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 ANKRD34C 0 genome.wustl.edu 37 15 79586581 79586581 + Frame_Shift_Del DEL A A - TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 15 79586581 79586581 A - DEL ANKRD34C ENST00000421388 human ensembl 69_37n +1 known frame_shift_del c.955 p.K319fs 0.811 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34C HGNC ENSG00000235711 38 0 0.00 10 2 16.67 - - - ANKRD52 0 genome.wustl.edu 37 12 56651611 56651611 + Splice_Site DEL C C - TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 12 56651611 56651611 C - DEL ANKRD52 ENST00000267116 human ensembl 69_37n -1 known splice_site_del c.111+1 e2+1 1.000 - - - no_errors ANKRD52 HGNC ENSG00000139645 87 0 0.00 15 2 11.76 - - - BCL9L 0 genome.wustl.edu 37 11 118769652 118769652 + Frame_Shift_Del DEL G G - TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 11 118769652 118769652 G - DEL BCL9L ENST00000334801 human ensembl 69_37n -1 known frame_shift_del c.3972 p.F1324fs 0.993 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 85 0 0.00 17 2 10.53 - - - COL5A1 0 genome.wustl.edu 37 9 137687132 137687132 + Missense_Mutation SNP C C T TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 9 137687132 137687132 C T SNP COL5A1 ENST00000371817 human ensembl 69_37n +1 known missense c.2770 p.R924W 0.985 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 128 0 0.00 24 13 35.14 - - - CRIPAK 0 genome.wustl.edu 37 4 1388682 1388683 + Frame_Shift_Ins INS - - CA TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 4 1388682 1388683 - CA INS CRIPAK ENST00000324803 human ensembl 69_37n +1 known frame_shift_ins c.383_384 p.R130fs 0.006:0.026 NULL smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 106 1 0.93 17 3 15.00 - - - CTC1 0 genome.wustl.edu 37 17 8138378 8138378 + Frame_Shift_Del DEL C C - TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 17 8138378 8138378 C - DEL CTC1 ENST00000315684 human ensembl 69_37n -1 known frame_shift_del c.1432 p.A478fs 0.871 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 46 0 0.00 3 2 40.00 - - - CTCF 0 genome.wustl.edu 37 16 67670628 67670628 + Nonsense_Mutation SNP G G T TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 16 67670628 67670628 G T SNP CTCF ENST00000264010 human ensembl 69_37n +1 known nonsense c.1873 p.E625* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 94 0 0.00 0 29 100.00 - - - DAB2IP 0 genome.wustl.edu 37 9 124522318 124522318 + Missense_Mutation SNP G G A TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 9 124522318 124522318 G A SNP DAB2IP ENST00000408936 human ensembl 69_37n +1 known missense c.770 p.G257D 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 91 0 0.00 8 5 38.46 - - - DRD3 0 genome.wustl.edu 37 3 113890710 113890710 + Missense_Mutation SNP C C T TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 3 113890710 113890710 C T SNP DRD3 ENST00000383673 human ensembl 69_37n -1 known missense c.130 p.V44I 0.481 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Dopa_D3_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 129 0 0.00 9 13 59.09 - - - EFHA2 0 genome.wustl.edu 37 8 16944521 16944521 + Missense_Mutation SNP G G C TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 8 16944521 16944521 G C SNP EFHA2 ENST00000318063 human ensembl 69_37n +1 known missense c.826 p.D276H 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHA2 HGNC ENSG00000155970 504 0 0.00 147 94 39.00 - - - EIF2C1 0 genome.wustl.edu 37 1 36359982 36359982 + Missense_Mutation SNP G G A TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 1 36359982 36359982 G A SNP EIF2C1 ENST00000373204 human ensembl 69_37n +1 known missense c.851 p.R284H 1.000 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C1 HGNC ENSG00000092847 207 0 0.00 31 31 50.00 - - - EXTL3 0 genome.wustl.edu 37 8 28595139 28595139 + Missense_Mutation SNP G G C TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 8 28595139 28595139 G C SNP EXTL3 ENST00000220562 human ensembl 69_37n +1 known missense c.2380 p.E794Q 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 241 0 0.00 26 15 36.59 - - - FAM75A6 0 genome.wustl.edu 37 9 43624850 43624850 + Silent SNP C C T TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 9 43624850 43624850 C T SNP FAM75A6 ENST00000332857 human ensembl 69_37n -1 known silent c.3837 p.R1279 0.001 NULL NULL - no_errors FAM75A6 HGNC ENSG00000185775 92 0 0.00 25 3 10.71 - - - FAM83G 0 genome.wustl.edu 37 17 18891586 18891586 + Frame_Shift_Del DEL C C - TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 17 18891586 18891586 C - DEL FAM83G ENST00000345041 human ensembl 69_37n -1 known frame_shift_del c.664 p.A222fs 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 101 0 0.00 9 2 18.18 - - - FANCD2 0 genome.wustl.edu 37 3 10106486 10106486 + Missense_Mutation SNP C C T TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 3 10106486 10106486 C T SNP FANCD2 ENST00000287647 human ensembl 69_37n +1 known missense c.2095 p.L699F 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 127 0 0.00 33 18 35.29 - - - FMN2 0 genome.wustl.edu 37 1 240374531 240374531 + Missense_Mutation SNP A A G TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 1 240374531 240374531 A G SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.4061 p.K1354R 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 316 0 0.00 72 73 50.34 - - - FRY 0 genome.wustl.edu 37 13 32869412 32869412 + Missense_Mutation SNP C C T TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 13 32869412 32869412 C T SNP FRY ENST00000380250 human ensembl 69_37n +1 known missense c.8857 p.R2953C 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 271 0 0.00 46 36 43.90 - - - GALNT11 0 genome.wustl.edu 37 7 151807732 151807732 + Splice_Site SNP T T A TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 7 151807732 151807732 T A SNP GALNT11 ENST00000320311 human ensembl 69_37n +1 known splice_site c.1080+2 e6+2 1.000 - - - no_errors GALNT11 HGNC ENSG00000178234 391 0 0.00 171 22 11.40 - - - GUCY2F 0 genome.wustl.edu 37 X 108718516 108718516 + Missense_Mutation SNP C C A TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 X 108718516 108718516 C A SNP GUCY2F ENST00000218006 human ensembl 69_37n -1 known missense c.650 p.G217V 1.000 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 100 1 0.99 12 5 29.41 - - - HAS3 0 genome.wustl.edu 37 16 69148464 69148464 + Frame_Shift_Del DEL C C - TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 16 69148464 69148464 C - DEL HAS3 ENST00000306560 human ensembl 69_37n +1 known frame_shift_del c.957 p.L320fs 1.000 pfam_Chitin_synth_fng pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC ENSG00000103044 91 0 0.00 7 2 22.22 - - - HECTD4 0 genome.wustl.edu 37 12 112657218 112657218 + Frame_Shift_Del DEL G G - TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 12 112657218 112657218 G - DEL HECTD4 ENST00000377560 human ensembl 69_37n -1 known frame_shift_del c.6530 p.P2177fs 1.000 superfamily_ConA-like_lec_gl pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 93 0 0.00 18 2 10.00 - - - HYOU1 0 genome.wustl.edu 37 11 118925916 118925916 + Missense_Mutation SNP C C A TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 11 118925916 118925916 C A SNP HYOU1 ENST00000404233 human ensembl 69_37n -1 known missense c.400 p.V134L 0.999 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 132 0 0.00 0 12 100.00 - - - KCNS3 0 genome.wustl.edu 37 2 18112662 18112662 + Silent SNP C C T TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 2 18112662 18112662 C T SNP KCNS3 ENST00000304101 human ensembl 69_37n +1 known silent c.387 p.H129 0.038 superfamily_BTB/POZ_fold pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 151 0 0.00 27 14 34.15 - - - KIAA0922 0 genome.wustl.edu 37 4 154471282 154471282 + Silent SNP T T C TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 4 154471282 154471282 T C SNP KIAA0922 ENST00000409959 human ensembl 69_37n +1 known silent c.297 p.D99 1.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 276 0 0.00 170 133 43.89 - - - LIF 0 genome.wustl.edu 37 22 30639826 30639826 + Nonsense_Mutation SNP G G A TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 22 30639826 30639826 G A SNP LIF ENST00000403987 human ensembl 69_37n -1 putative nonsense c.244 p.R82* 0.000 NULL NULL - no_errors LIF HGNC ENSG00000128342 432 0 0.00 8 54 85.71 - - - MADD 0 genome.wustl.edu 37 11 47303974 47303974 + Frame_Shift_Del DEL G G - TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 11 47303974 47303974 G - DEL MADD ENST00000311027 human ensembl 69_37n +1 known frame_shift_del c.1512 p.G505fs 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 139 0 0.00 12 2 14.29 - - - NFATC2 0 genome.wustl.edu 37 20 50048860 50048860 + Silent SNP G G A TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 20 50048860 50048860 G A SNP NFATC2 ENST00000396009 human ensembl 69_37n -1 known silent c.2466 p.C822 0.944 NULL pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD - no_errors NFATC2 HGNC ENSG00000101096 102 1 0.97 15 15 50.00 - - - NTM 0 genome.wustl.edu 37 11 132180029 132180029 + Frame_Shift_Del DEL A A - TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 11 132180029 132180029 A - DEL NTM ENST00000539799 human ensembl 69_37n +1 known frame_shift_del c.685 p.K229fs 0.998 smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors NTM HGNC ENSG00000182667 105 0 0.00 15 2 11.76 - - - PALMD 0 genome.wustl.edu 37 1 100154698 100154698 + Silent SNP G G A TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 1 100154698 100154698 G A SNP PALMD ENST00000263174 human ensembl 69_37n +1 known silent c.882 p.L294 0.002 NULL pfam_Paralemmin - no_errors PALMD HGNC ENSG00000099260 185 0 0.00 61 31 33.70 - - - PARD3 0 genome.wustl.edu 37 10 34620061 34620061 + Missense_Mutation SNP A A T TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 10 34620061 34620061 A T SNP PARD3 ENST00000374789 human ensembl 69_37n -1 known missense c.2826 p.D942E 0.316 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 242 1 0.41 28 24 46.15 - - - PDCD1 0 genome.wustl.edu 37 2 242793270 242793270 + Silent SNP G G A TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 2 242793270 242793270 G A SNP PDCD1 ENST00000334409 human ensembl 69_37n -1 known silent c.807 p.D269 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PDCD1 HGNC ENSG00000188389 32 0 0.00 8 12 60.00 - - - PRPF39 0 genome.wustl.edu 37 14 45566145 45566145 + Missense_Mutation SNP A A G TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 14 45566145 45566145 A G SNP PRPF39 ENST00000355765 human ensembl 69_37n +1 known missense c.506 p.Y169C 1.000 smart_HAT smart_HAT - no_errors PRPF39 HGNC ENSG00000185246 252 0 0.00 94 53 35.81 - - - PSD2 0 genome.wustl.edu 37 5 139202313 139202313 + Frame_Shift_Del DEL G G - TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 5 139202313 139202313 G - DEL PSD2 ENST00000274710 human ensembl 69_37n +1 known frame_shift_del c.1213 p.I406fs 1.000 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology,pfscan_Sec7 - no_errors PSD2 HGNC ENSG00000146005 54 0 0.00 13 2 13.33 - - - PTPN5 0 genome.wustl.edu 37 11 18765723 18765723 + Frame_Shift_Del DEL C C - TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 11 18765723 18765723 C - DEL PTPN5 ENST00000358540 human ensembl 69_37n -1 known frame_shift_del c.121 p.E41fs 0.975 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 103 0 0.00 15 2 11.76 - - - RETNLB 0 genome.wustl.edu 37 3 108474726 108474726 + Missense_Mutation SNP C C T TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 3 108474726 108474726 C T SNP RETNLB ENST00000295755 human ensembl 69_37n -1 known missense c.235 p.G79S 1.000 pfam_Resistin,superfamily_Resistin pfam_Resistin,superfamily_Resistin - no_errors RETNLB HGNC ENSG00000163515 70 0 0.00 20 6 23.08 - - - RGPD8 0 genome.wustl.edu 37 2 113161599 113161599 + Missense_Mutation SNP A A T TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 2 113161599 113161599 A T SNP RGPD8 ENST00000302558 human ensembl 69_37n -1 known missense c.1220 p.I407N 0.992 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC ENSG00000169629 74 0 0.00 22 11 33.33 - - - SCN11A 0 genome.wustl.edu 37 3 38938447 38938447 + Silent SNP G G A TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 3 38938447 38938447 G A SNP SCN11A ENST00000302328 human ensembl 69_37n -1 known silent c.2292 p.I764 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 316 0 0.00 34 30 46.88 - - - SHROOM4 0 genome.wustl.edu 37 X 50377366 50377366 + Silent SNP C C T TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 X 50377366 50377366 C T SNP SHROOM4 ENST00000289292 human ensembl 69_37n -1 known silent c.1707 p.R569 0.000 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 116 0 0.00 9 12 57.14 - - - SYNDIG1L 0 genome.wustl.edu 37 14 74876345 74876345 + Frame_Shift_Del DEL G G - TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 14 74876345 74876345 G - DEL SYNDIG1L ENST00000331628 human ensembl 69_37n -1 known frame_shift_del c.103 p.Q35fs 1.000 NULL pfam_Interferon-induced_TM_protein - no_errors SYNDIG1L HGNC ENSG00000183379 64 0 0.00 17 2 10.53 - - - SYNM 0 genome.wustl.edu 37 15 99672941 99672941 + Missense_Mutation SNP C C T TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 15 99672941 99672941 C T SNP SYNM ENST00000336292 human ensembl 69_37n +1 known missense c.4373 p.S1458L 0.834 NULL pfam_F - no_errors SYNM HGNC ENSG00000182253 157 0 0.00 15 5 25.00 - - - TBC1D10C 0 genome.wustl.edu 37 11 67173127 67173127 + Missense_Mutation SNP G G A TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 11 67173127 67173127 G A SNP TBC1D10C ENST00000312390 human ensembl 69_37n +1 known missense c.422 p.R141H 0.998 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10C HGNC ENSG00000175463 87 0 0.00 42 12 22.22 - - - THBS2 0 genome.wustl.edu 37 6 169626380 169626380 + Silent SNP T T C TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 6 169626380 169626380 T C SNP THBS2 ENST00000366787 human ensembl 69_37n -1 known silent c.2433 p.E811 0.895 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 185 0 0.00 32 22 40.74 - - - UBR4 0 genome.wustl.edu 37 1 19491831 19491831 + Silent SNP T T C TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 1 19491831 19491831 T C SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known silent c.4224 p.V1408 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 80 0 0.00 23 4 14.81 - - - UGT1A6 0 genome.wustl.edu 37 2 234601744 234601744 + Missense_Mutation SNP G G T TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx eff74709-36af-4da4-91c1-01100ddc7735 ffc2b70d-1e0c-4ada-8c9a-3553d8c19b25 2 234601744 234601744 G T SNP UGT1A6 ENST00000305139 human ensembl 69_37n +1 known missense c.94 p.V32F 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A6 HGNC ENSG00000167165 88 0 0.00 12 14 53.85 - - -