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 ABCF2 0 genome.wustl.edu 37 7 150921061 150921061 + Silent SNP C C T TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 7 150921061 150921061 C T SNP ABCF2 ENST00000222388 human ensembl 69_37n -1 known silent c.507 p.R169 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 55 0 0.00 104 24 18.75 - - - ANKRD26P1 0 genome.wustl.edu 37 16 46597801 46597802 + RNA INS - - T TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 16 46597801 46597802 - T INS ANKRD26P1 ENST00000566201 human ensembl 69_37n -1 known rna NULL NULL 0.945:0.029 - - - no_errors ANKRD26P1 HGNC ENSG00000261239 15 0 0.00 9 2 18.18 - - - ASUN 0 genome.wustl.edu 37 12 27069033 27069033 + Missense_Mutation SNP T T C TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 12 27069033 27069033 T C SNP ASUN ENST00000261191 human ensembl 69_37n -1 known missense c.1150 p.I384V 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_errors ASUN HGNC ENSG00000064102 66 0 0.00 52 10 16.13 - - - CABIN1 0 genome.wustl.edu 37 22 24480534 24480534 + Silent SNP G G A TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 22 24480534 24480534 G A SNP CABIN1 ENST00000263119 human ensembl 69_37n +1 known silent c.2913 p.V971 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 131 0 0.00 136 29 17.58 - - - EDN1 0 genome.wustl.edu 37 6 12296218 12296218 + Missense_Mutation SNP T T A TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 6 12296218 12296218 T A SNP EDN1 ENST00000379375 human ensembl 69_37n +1 known missense c.557 p.V186D 1.000 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN1 HGNC ENSG00000078401 299 0 0.00 246 47 16.04 - - - EPHX1 0 genome.wustl.edu 37 1 226026417 226026417 + Missense_Mutation SNP C C T TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 1 226026417 226026417 C T SNP EPHX1 ENST00000272167 human ensembl 69_37n +1 known missense c.427 p.P143S 0.995 pfam_Epoxide_hydro_N,pirsf_Epoxide_hydrolase pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 131 0 0.00 186 37 16.52 - - - ETS2 0 genome.wustl.edu 37 21 40186843 40186843 + Missense_Mutation SNP T T C TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 21 40186843 40186843 T C SNP ETS2 ENST00000360214 human ensembl 69_37n +1 known missense c.443 p.L148P 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transforming_factor_C-ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS2 HGNC ENSG00000157557 91 0 0.00 69 27 28.12 - - - FAM136A 0 genome.wustl.edu 37 2 70524439 70524439 + Silent SNP G G A TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 2 70524439 70524439 G A SNP FAM136A ENST00000037869 human ensembl 69_37n -1 known silent c.399 p.L133 0.812 pfam_DUF842_euk pfam_DUF842_euk - no_errors FAM136A HGNC ENSG00000035141 110 0 0.00 87 26 23.01 - - - FGFR3 0 genome.wustl.edu 37 4 1806180 1806181 + Frame_Shift_Ins INS - - C TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 4 1806180 1806181 - C INS FGFR3 ENST00000340107 human ensembl 69_37n +1 known frame_shift_ins c.1205_1206 p.K405fs 0.996:0.987 pirsf_Tyr_kinase_fibroblast_GF_rcpt pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FGFR3 HGNC ENSG00000068078 20 0 0.00 17 3 15.00 - - - GNAZ 0 genome.wustl.edu 37 22 23438487 23438488 + Frame_Shift_Ins INS - - G TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 22 23438487 23438488 - G INS GNAZ ENST00000248996 human ensembl 69_37n +1 known frame_shift_ins c.605_606 p.Q205fs 1.000:1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 33 0 0.00 43 6 12.24 - - - HAL 0 genome.wustl.edu 37 12 96380925 96380925 + Missense_Mutation SNP C C G TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 12 96380925 96380925 C G SNP HAL ENST00000261208 human ensembl 69_37n -1 known missense c.971 p.S324T 1.000 pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH pfam_Aromatic_Lyase,superfamily_L-Aspartase-like,tigrfam_HutH - no_errors HAL HGNC ENSG00000084110 114 0 0.00 113 16 12.40 - - - HLA-C 0 genome.wustl.edu 37 6 31239010 31239010 + Missense_Mutation SNP G G A TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 6 31239010 31239010 G A SNP HLA-C ENST00000415537 human ensembl 69_37n -1 novel missense c.457 p.P153S 1.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HLA-C HGNC ENSG00000204525 15 0 0.00 18 6 25.00 - - - IGDCC4 0 genome.wustl.edu 37 15 65681239 65681240 + Frame_Shift_Ins INS - - G TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 15 65681239 65681240 - G INS IGDCC4 ENST00000352385 human ensembl 69_37n -1 novel frame_shift_ins c.2614_2613 p.T871fs 0.007:0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC4 HGNC ENSG00000103742 23 0 0.00 25 4 13.79 - - - MAGED2 0 genome.wustl.edu 37 X 54841196 54841197 + Frame_Shift_Ins INS - - T TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 X 54841196 54841197 - T INS MAGED2 ENST00000218439 human ensembl 69_37n +1 known frame_shift_ins c.1374_1375 p.A459fs 1.000:1.000 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGED2 HGNC ENSG00000102316 90 0 0.00 70 16 18.60 - - - MAP2K4 0 genome.wustl.edu 37 17 12044530 12044530 + Missense_Mutation SNP C C G TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 17 12044530 12044530 C G SNP MAP2K4 ENST00000415385 human ensembl 69_37n +1 known missense c.1186 p.L396V 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors MAP2K4 HGNC ENSG00000065559 189 0 0.00 123 26 17.45 - - - MAP3K1 0 genome.wustl.edu 37 5 56183347 56183347 + Silent SNP G G A TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 5 56183347 56183347 G A SNP MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel silent c.4257 p.E1419 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 302 0 0.00 262 58 18.12 - - - MLL3 0 genome.wustl.edu 37 7 151945622 151945622 + Frame_Shift_Del DEL C C - TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 7 151945622 151945622 C - DEL MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_del c.1897 p.E633fs 0.982 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 196 0 0.00 148 33 17.93 - - - MUC5B 0 genome.wustl.edu 37 11 1266173 1266173 + Missense_Mutation SNP C C T TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 11 1266173 1266173 C T SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.8072 p.P2691L 0.011 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 22 0 0.00 22 4 15.38 - - - NAA30 0 genome.wustl.edu 37 14 57858091 57858092 + Frame_Shift_Del DEL CT CT - TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 14 57858091 57858092 CT - DEL NAA30 ENST00000556492 human ensembl 69_37n +1 known frame_shift_del c.416_417 p.H140fs 0.911:0.880 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA30 HGNC ENSG00000139977 32 0 0.00 15 21 58.33 - - - NOP9 0 genome.wustl.edu 37 14 24769173 24769173 + Frame_Shift_Del DEL C C - TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 14 24769173 24769173 C - DEL NOP9 ENST00000267425 human ensembl 69_37n +1 known frame_shift_del c.13 p.P5fs 0.996 NULL superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt - no_errors NOP9 HGNC ENSG00000196943 17 0 0.00 15 2 11.76 - - - PEX2 0 genome.wustl.edu 37 8 77895511 77895511 + Missense_Mutation SNP C C T TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 8 77895511 77895511 C T SNP PEX2 ENST00000357039 human ensembl 69_37n -1 known missense c.904 p.V302I 1.000 NULL pfam_Pex_N,smart_Znf_RING,pfscan_Znf_RING - no_errors PEX2 HGNC ENSG00000164751 310 0 0.00 295 61 17.13 - - - PIK3CA 0 genome.wustl.edu 37 3 178928079 178928079 + Missense_Mutation SNP G G A TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 3 178928079 178928079 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1357 p.E453K 1.000 pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB 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 135 0 0.00 135 38 21.97 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 88 0 0.00 64 19 22.89 - - - PIPSL 0 genome.wustl.edu 37 10 95718375 95718377 + RNA DEL TTC TTC - TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 10 95718375 95718377 TTC - DEL PIPSL ENST00000480546 human ensembl 69_37n -1 putative rna NULL NULL 0.070:0.070:0.070 - - - no_errors PIPSL HGNC ENSG00000180764 13 0 0.00 3 2 40.00 - - - PKHD1 0 genome.wustl.edu 37 6 51944778 51944778 + Silent SNP G G A TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 6 51944778 51944778 G A SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known silent c.310 p.L104 0.001 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 241 0 0.00 144 34 19.10 - - - POTEM 0 genome.wustl.edu 37 14 20010197 20010197 + Missense_Mutation SNP C C T TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 14 20010197 20010197 C T SNP POTEM ENST00000547848 human ensembl 69_37n -1 known missense c.961 p.V321I 0.063 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEM HGNC ENSG00000187537 18 0 0.00 18 5 21.74 - - - RNF14 0 genome.wustl.edu 37 5 141359713 141359714 + In_Frame_Ins INS - - AGG TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 5 141359713 141359714 - AGG INS RNF14 ENST00000347642 human ensembl 69_37n +1 known in_frame_ins c.860_861 p.288in_frame_insG 1.000:0.980 NULL pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC ENSG00000013561 86 0 0.00 98 18 15.52 - - - TNS4 0 genome.wustl.edu 37 17 38643408 38643408 + Silent SNP G G T TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 17 38643408 38643408 G T SNP TNS4 ENST00000254051 human ensembl 69_37n -1 known silent c.1168 p.R390 0.019 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 82 0 0.00 79 22 21.78 - - - ZNF292 0 genome.wustl.edu 37 6 87967879 87967879 + Missense_Mutation SNP A A G TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 6 87967879 87967879 A G SNP ZNF292 ENST00000369577 human ensembl 69_37n +1 known missense c.4532 p.H1511R 0.990 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 117 0 0.00 68 22 24.44 - - - ZNF692 0 genome.wustl.edu 37 1 249151656 249151656 + Missense_Mutation SNP C C T TCGA-AO-A0JF-01A-11W-A071-09 TCGA-AO-A0JF-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 191caa1a-5ab8-4db5-b42a-f1c5964b0b0d 58109f2e-3c8d-4313-bc3e-1de6c5b245c4 1 249151656 249151656 C T SNP ZNF692 ENST00000477070 human ensembl 69_37n -1 known missense c.41 p.C14Y 0.997 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZNF692 HGNC ENSG00000171163 38 0 0.00 68 13 16.05 - - -