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 ABCA4 0 genome.wustl.edu 37 1 94505646 94505646 + Missense_Mutation SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 1 94505646 94505646 G A SNP ABCA4 ENST00000370225 human ensembl 69_37n -1 known missense c.3560 p.T1187M 0.138 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 347 1 0.29 105 59 35.98 - - - ADAMTS12 0 genome.wustl.edu 37 5 33642057 33642057 + Missense_Mutation SNP A A T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 5 33642057 33642057 A T SNP ADAMTS12 ENST00000504830 human ensembl 69_37n -1 known missense c.1576 p.C526S 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 62 0 0.00 76 15 16.30 - - - ANTXR1 0 genome.wustl.edu 37 2 69408958 69408958 + Missense_Mutation SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 2 69408958 69408958 C T SNP ANTXR1 ENST00000303714 human ensembl 69_37n +1 known missense c.1130 p.T377M 0.998 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 295 0 0.00 141 109 43.60 - - - ATP10A 0 genome.wustl.edu 37 15 25925334 25925334 + Missense_Mutation SNP G G T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 15 25925334 25925334 G T SNP ATP10A ENST00000356865 human ensembl 69_37n -1 known missense c.3800 p.A1267D 0.163 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ENSG00000206190 113 0 0.00 81 34 29.57 - - - ATP7B 0 genome.wustl.edu 37 13 52508972 52508972 + Missense_Mutation SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 13 52508972 52508972 G A SNP ATP7B ENST00000242839 human ensembl 69_37n -1 known missense c.4318 p.R1440W 0.655 NULL pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 84 0 0.00 24 27 52.94 - - - AURKC 0 genome.wustl.edu 37 19 57743593 57743593 + Splice_Site SNP G G C TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 19 57743593 57743593 G C SNP AURKC ENST00000302804 human ensembl 69_37n +1 known splice_site c.296+1 e3+1 1.000 - - - no_errors AURKC HGNC ENSG00000105146 52 0 0.00 42 11 20.75 - - - C10orf128 0 genome.wustl.edu 37 10 50369647 50369647 + Missense_Mutation SNP T T G TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 10 50369647 50369647 T G SNP C10orf128 ENST00000374151 human ensembl 69_37n -1 known missense c.447 p.Q149H 0.003 NULL NULL - no_errors C10orf128 HGNC ENSG00000204161 264 1 0.38 381 79 17.17 - - - CAMSAP1 0 genome.wustl.edu 37 9 138714775 138714775 + Missense_Mutation SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 9 138714775 138714775 C T SNP CAMSAP1 ENST00000409386 human ensembl 69_37n -1 known missense c.1765 p.G589R 0.562 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 53 0 0.00 76 20 20.83 - - - CDK5RAP2 0 genome.wustl.edu 37 9 123232463 123232463 + Missense_Mutation SNP A A C TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 9 123232463 123232463 A C SNP CDK5RAP2 ENST00000349780 human ensembl 69_37n -1 known missense c.1894 p.Y632D 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 97 0 0.00 24 10 29.41 - - - CHD4 0 genome.wustl.edu 37 12 6696712 6696712 + Silent SNP T T C TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 12 6696712 6696712 T C SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known silent c.3717 p.K1239 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 221 0 0.00 173 59 25.32 - - - CT47B1 0 genome.wustl.edu 37 X 120009253 120009253 + Missense_Mutation SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec X 120009253 120009253 G A SNP CT47B1 ENST00000371311 human ensembl 69_37n -1 known missense c.272 p.T91M 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 33 0 0.00 15 19 55.88 - - - CTDP1 0 genome.wustl.edu 37 18 77475211 77475211 + Missense_Mutation SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 18 77475211 77475211 C T SNP CTDP1 ENST00000299543 human ensembl 69_37n +1 known missense c.1751 p.T584M 0.010 NULL pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 49 0 0.00 26 5 15.62 - - - DISP1 0 genome.wustl.edu 37 1 223176396 223176396 + Missense_Mutation SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 1 223176396 223176396 G A SNP DISP1 ENST00000284476 human ensembl 69_37n +1 known missense c.1657 p.E553K 1.000 pfam_Patched,pfam_MMPL-typ,pfscan_SSD pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 141 0 0.00 217 28 11.43 - - - DLGAP1 0 genome.wustl.edu 37 18 3567558 3567558 + Missense_Mutation SNP C C A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 18 3567558 3567558 C A SNP DLGAP1 ENST00000315677 human ensembl 69_37n -1 known missense c.1987 p.D663Y 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 271 0 0.00 278 64 18.71 - - - DNAJC13 0 genome.wustl.edu 37 3 132245098 132245098 + Silent SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 3 132245098 132245098 G A SNP DNAJC13 ENST00000260818 human ensembl 69_37n +1 known silent c.6354 p.Q2118 1.000 superfamily_ARM-type_fold pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N - no_errors DNAJC13 HGNC ENSG00000138246 171 0 0.00 157 38 19.49 - - - DNASE2 0 genome.wustl.edu 37 19 12989580 12989580 + Frame_Shift_Del DEL C C - TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 19 12989580 12989580 C - DEL DNASE2 ENST00000222219 human ensembl 69_37n -1 known frame_shift_del c.415 p.A139fs 0.001 pfam_DNase_II pfam_DNase_II - no_errors DNASE2 HGNC ENSG00000105612 169 0 0.00 35 12 25.53 - - - DNM1P46 0 genome.wustl.edu 37 15 100345136 100345137 + Splice_Site INS - - A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 15 100345136 100345137 - A INS DNM1P46 ENST00000341853 human ensembl 69_37n -1 known splice_site_ins c.NULL NULL 0.074:0.098 - - - no_errors DNM1P46 HGNC ENSG00000182397 40 0 0.00 25 3 10.71 - - - ETV6 0 genome.wustl.edu 37 12 12022707 12022707 + Silent SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 12 12022707 12022707 C T SNP ETV6 ENST00000396373 human ensembl 69_37n +1 known silent c.813 p.S271 0.997 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV6 HGNC ENSG00000139083 70 0 0.00 58 9 13.43 - - - EVC2 0 genome.wustl.edu 37 4 5624559 5624559 + Missense_Mutation SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 4 5624559 5624559 G A SNP EVC2 ENST00000344408 human ensembl 69_37n -1 known missense c.2206 p.L736F 0.933 NULL pfam_EVC2-like - no_errors EVC2 HGNC ENSG00000173040 82 0 0.00 75 16 17.58 - - - FAM171A1 0 genome.wustl.edu 37 10 15325912 15325912 + Frame_Shift_Del DEL G G - TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 10 15325912 15325912 G - DEL FAM171A1 ENST00000378116 human ensembl 69_37n -1 known frame_shift_del c.290 p.P97fs 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 191 0 0.00 125 36 22.36 - - - FAM82B 0 genome.wustl.edu 37 8 87498796 87498796 + Nonsense_Mutation SNP C C A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 8 87498796 87498796 C A SNP FAM82B ENST00000406452 human ensembl 69_37n -1 known nonsense c.412 p.E138* 0.968 NULL NULL - no_errors FAM82B HGNC ENSG00000176623 138 0 0.00 52 42 44.21 - - - FBXO7 0 genome.wustl.edu 37 22 32881084 32881084 + Silent SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 22 32881084 32881084 G A SNP FBXO7 ENST00000266087 human ensembl 69_37n +1 known silent c.675 p.P225 0.011 pfam_Inhibitor_PI31 pfam_Inhibitor_PI31,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO7 HGNC ENSG00000100225 267 1 0.37 233 59 20.21 - - - GATA3 0 genome.wustl.edu 37 10 8115874 8115875 + Frame_Shift_Ins INS - - T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 10 8115874 8115875 - T INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1223_1224 p.P409fs 0.903:0.359 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 126 0 0.00 74 17 18.68 - - - GJA9 0 genome.wustl.edu 37 1 39340570 39340570 + Missense_Mutation SNP T T C TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 1 39340570 39340570 T C SNP GJA9 ENST00000357771 human ensembl 69_37n -1 known missense c.1201 p.M401V 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC ENSG00000131233 360 0 0.00 153 58 27.49 - - - HYDIN 0 genome.wustl.edu 37 16 71103181 71103181 + Missense_Mutation SNP C C A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 16 71103181 71103181 C A SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known missense c.1963 p.A655S 0.980 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 271 0 0.00 371 66 15.10 - - - IGSF9B 0 genome.wustl.edu 37 11 133801654 133801654 + Nonsense_Mutation SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 11 133801654 133801654 G A SNP IGSF9B ENST00000321016 human ensembl 69_37n -1 known nonsense c.1147 p.R383* 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9B HGNC ENSG00000080854 52 0 0.00 8 14 63.64 - - - ITPR2 0 genome.wustl.edu 37 12 26752146 26752146 + Missense_Mutation SNP A A T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 12 26752146 26752146 A T SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known missense c.3934 p.F1312I 1.000 pfam_Ca-rel_channel,superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 532 0 0.00 611 94 13.28 - - - IVNS1ABP 0 genome.wustl.edu 37 1 185269464 185269465 + Frame_Shift_Del DEL AT AT - TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 1 185269464 185269465 AT - DEL IVNS1ABP ENST00000367498 human ensembl 69_37n -1 known frame_shift_del c.1254_1253 p.Y418fs 1.000:1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IVNS1ABP HGNC ENSG00000116679 95 0 0.00 199 58 22.48 - - - KANK4 0 genome.wustl.edu 37 1 62734091 62734091 + Missense_Mutation SNP T T C TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 1 62734091 62734091 T C SNP KANK4 ENST00000371153 human ensembl 69_37n -1 known missense c.2099 p.D700G 0.003 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 54 0 0.00 42 6 12.50 - - - KCNK18 0 genome.wustl.edu 37 10 118969429 118969429 + Missense_Mutation SNP G G T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 10 118969429 118969429 G T SNP KCNK18 ENST00000334549 human ensembl 69_37n +1 known missense c.774 p.L258F 0.000 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl - no_errors KCNK18 HGNC ENSG00000186795 290 0 0.00 205 48 18.97 - - - KCNQ3 0 genome.wustl.edu 37 8 133187705 133187705 + Missense_Mutation SNP C C G TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 8 133187705 133187705 C G SNP KCNQ3 ENST00000388996 human ensembl 69_37n -1 known missense c.928 p.G310R 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 430 0 0.00 309 74 19.27 - - - LYN 0 genome.wustl.edu 37 8 56922638 56922638 + Missense_Mutation SNP C C A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 8 56922638 56922638 C A SNP LYN ENST00000519728 human ensembl 69_37n +1 known missense c.1508 p.A503D 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 51 0 0.00 22 28 56.00 - - - MLH3 0 genome.wustl.edu 37 14 75498872 75498872 + Missense_Mutation SNP C C G TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 14 75498872 75498872 C G SNP MLH3 ENST00000355774 human ensembl 69_37n -1 known missense c.3726 p.E1242D 1.000 pfam_MutL_C,smart_MutL_C pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 262 0 0.00 69 47 40.52 - - - MPDZ 0 genome.wustl.edu 37 9 13206024 13206025 + Frame_Shift_Del DEL CA CA - TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 9 13206024 13206025 CA - DEL MPDZ ENST00000319217 human ensembl 69_37n -1 known frame_shift_del c.1365_1364 p.V455fs 0.692:0.996 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 295 0 0.00 166 72 30.00 - - - MRE11A 0 genome.wustl.edu 37 11 94194141 94194141 + Silent SNP T T C TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 11 94194141 94194141 T C SNP MRE11A ENST00000323929 human ensembl 69_37n -1 known silent c.1287 p.V429 0.980 pfam_Mre11_DNA-bd,pirsf_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 297 0 0.00 382 463 54.79 - - - MYPN 0 genome.wustl.edu 37 10 69948709 69948709 + Missense_Mutation SNP G G C TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 10 69948709 69948709 G C SNP MYPN ENST00000358913 human ensembl 69_37n +1 known missense c.2751 p.E917D 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYPN HGNC ENSG00000138347 327 0 0.00 472 139 22.75 - - - NBPF1 0 genome.wustl.edu 37 1 16905869 16905869 + RNA SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 1 16905869 16905869 G A SNP NBPF1 ENST00000430580 human ensembl 69_37n -1 known rna NULL NULL 0.241 - - - no_errors NBPF1 HGNC ENSG00000219481 11 0 0.00 14 8 36.36 - - - NPY 0 genome.wustl.edu 37 7 24331283 24331283 + Missense_Mutation SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 7 24331283 24331283 C T SNP NPY ENST00000242152 human ensembl 69_37n +1 known missense c.271 p.L91F 1.000 NULL pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like - no_errors NPY HGNC ENSG00000122585 269 0 0.00 217 39 15.23 - - - NSDHL 0 genome.wustl.edu 37 X 152036194 152036194 + Nonsense_Mutation SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec X 152036194 152036194 C T SNP NSDHL ENST00000370274 human ensembl 69_37n +1 known nonsense c.766 p.R256* 0.001 pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA - no_errors NSDHL HGNC ENSG00000147383 60 0 0.00 54 6 10.00 - - - OR1M1 0 genome.wustl.edu 37 19 9204487 9204487 + Nonsense_Mutation SNP C C A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 19 9204487 9204487 C A SNP OR1M1 ENST00000429566 human ensembl 69_37n +1 known nonsense c.567 p.C189* 0.083 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1M1 HGNC ENSG00000170929 83 0 0.00 72 22 23.40 - - - OR2D3 0 genome.wustl.edu 37 11 6943082 6943082 + Missense_Mutation SNP A A G TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 11 6943082 6943082 A G SNP OR2D3 ENST00000317834 human ensembl 69_37n +1 known missense c.850 p.K284E 0.004 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2D3 HGNC ENSG00000178358 136 0 0.00 131 78 37.32 - - - OR5D14 0 genome.wustl.edu 37 11 55563102 55563102 + Missense_Mutation SNP A A T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 11 55563102 55563102 A T SNP OR5D14 ENST00000335605 human ensembl 69_37n +1 known missense c.71 p.K24M 0.138 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 83 0 0.00 137 31 18.45 - - - OTOP2 0 genome.wustl.edu 37 17 72929557 72929557 + Missense_Mutation SNP A A T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 17 72929557 72929557 A T SNP OTOP2 ENST00000331427 human ensembl 69_37n +1 known missense c.1606 p.I536F 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 49 0 0.00 29 7 19.44 - - - PARK2 0 genome.wustl.edu 37 6 161781222 161781222 + Missense_Mutation SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 6 161781222 161781222 C T SNP PARK2 ENST00000366898 human ensembl 69_37n -1 known missense c.1183 p.E395K 0.268 pirsf_Parkin pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,prints_Parkin,prints_Ubiquitin_subgr,pfscan_Ubiquitin_supergroup - no_errors PARK2 HGNC ENSG00000185345 262 0 0.00 155 116 42.80 - - - PARS2 0 genome.wustl.edu 37 1 55224704 55224704 + Missense_Mutation SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 1 55224704 55224704 C T SNP PARS2 ENST00000371279 human ensembl 69_37n -1 known missense c.131 p.R44H 0.201 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pfscan_aa-tRNA-synth_II,prints_Pro-tRNA-synth_IIa - no_errors PARS2 HGNC ENSG00000162396 81 0 0.00 23 33 57.89 - - - PELP1 0 genome.wustl.edu 37 17 4576579 4576579 + Missense_Mutation SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 17 4576579 4576579 G A SNP PELP1 ENST00000301396 human ensembl 69_37n -1 known missense c.2243 p.A748V 1.000 pfam_Uncharacterised_NUC202 pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 101 0 0.00 19 37 66.07 - - - PIAS3 0 genome.wustl.edu 37 1 145578592 145578592 + RNA SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 1 145578592 145578592 C T SNP PIAS3 ENST00000484423 human ensembl 69_37n +1 known rna NULL NULL 0.206 - - - no_errors PIAS3 HGNC ENSG00000131788 307 0 0.00 419 150 26.36 - - - PRDM1 0 genome.wustl.edu 37 6 106547224 106547224 + Missense_Mutation SNP A A G TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 6 106547224 106547224 A G SNP PRDM1 ENST00000369096 human ensembl 69_37n +1 known missense c.461 p.E154G 1.000 pfam_SET_dom,smart_SET_dom,pirsf_Znf_PRDM1,pfscan_SET_dom pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 154 0 0.00 193 48 19.92 - - - PRICKLE3 0 genome.wustl.edu 37 X 49032341 49032341 + Missense_Mutation SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec X 49032341 49032341 C T SNP PRICKLE3 ENST00000376317 human ensembl 69_37n -1 known missense c.1529 p.R510H 0.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 52 0 0.00 40 37 47.44 - - - PROCR 0 genome.wustl.edu 37 20 33762727 33762727 + Missense_Mutation SNP G G T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 20 33762727 33762727 G T SNP PROCR ENST00000216968 human ensembl 69_37n +1 known missense c.293 p.R98L 0.004 superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 31 0 0.00 190 30 13.57 - - - RBM26 0 genome.wustl.edu 37 13 79911273 79911273 + Silent SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 13 79911273 79911273 C T SNP RBM26 ENST00000327303 human ensembl 69_37n -1 known silent c.2697 p.T899 0.927 smart_RRM_dom,pfscan_RRM_dom pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 138 0 0.00 109 36 24.83 - - - RNF10 0 genome.wustl.edu 37 12 121002888 121002888 + Missense_Mutation SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 12 121002888 121002888 G A SNP RNF10 ENST00000413266 human ensembl 69_37n +1 known missense c.1694 p.R565H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 180 0 0.00 114 30 20.83 - - - SDHAP1 0 genome.wustl.edu 37 3 195711423 195711423 + RNA SNP A A G TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 3 195711423 195711423 A G SNP SDHAP1 ENST00000427841 human ensembl 69_37n -1 known rna NULL NULL 0.011 - - - no_errors SDHAP1 HGNC ENSG00000185485 19 0 0.00 22 6 21.43 - - - SERPINB3 0 genome.wustl.edu 37 18 61322965 61322965 + Missense_Mutation SNP G G C TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 18 61322965 61322965 G C SNP SERPINB3 ENST00000283752 human ensembl 69_37n -1 known missense c.1099 p.H367D 1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB3 HGNC ENSG00000057149 234 0 0.00 300 74 19.79 - - - SIX5 0 genome.wustl.edu 37 19 46269231 46269232 + Frame_Shift_Ins INS - - G TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 19 46269231 46269232 - G INS SIX5 ENST00000317578 human ensembl 69_37n -1 known frame_shift_ins c.1748_1747 p.L583fs 0.236:0.236 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX5 HGNC ENSG00000177045 23 0 0.00 4 2 33.33 - - - SLC6A10P 0 genome.wustl.edu 37 16 32893876 32893876 + RNA SNP T T C TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 16 32893876 32893876 T C SNP SLC6A10P ENST00000330048 human ensembl 69_37n -1 known rna NULL NULL 0.959 - - - no_errors SLC6A10P HGNC ENSG00000214617 20 0 0.00 4 2 33.33 - - - SP3 0 genome.wustl.edu 37 2 174820722 174820722 + Missense_Mutation SNP A A C TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 2 174820722 174820722 A C SNP SP3 ENST00000310015 human ensembl 69_37n -1 known missense c.518 p.I173R 1.000 superfamily_Galactose-bd-like pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP3 HGNC ENSG00000172845 131 0 0.00 108 48 30.57 - - - SRCAP 0 genome.wustl.edu 37 16 30750833 30750833 + Missense_Mutation SNP C C G TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 16 30750833 30750833 C G SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known missense c.9472 p.Q3158E 0.989 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 15 0 0.00 15 6 28.57 - - - STAG2 0 genome.wustl.edu 37 X 123195113 123195113 + Missense_Mutation SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec X 123195113 123195113 G A SNP STAG2 ENST00000218089 human ensembl 69_37n +1 known missense c.1456 p.D486N 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 177 0 0.00 160 37 18.78 - - - STAG3L3 0 genome.wustl.edu 37 7 72470053 72470053 + Silent SNP G G T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 7 72470053 72470053 G T SNP STAG3L3 ENST00000308103 human ensembl 69_37n -1 known silent c.288 p.I96 0.980 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors STAG3L3 HGNC ENSG00000174353 1604 0 0.00 869 129 12.90 - - - STAT4 0 genome.wustl.edu 37 2 191896229 191896229 + Silent SNP T T A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 2 191896229 191896229 T A SNP STAT4 ENST00000358470 human ensembl 69_37n -1 known silent c.2058 p.T686 1.000 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 397 0 0.00 212 77 26.64 - - - SVOP 0 genome.wustl.edu 37 12 109334559 109334559 + Splice_Site SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 12 109334559 109334559 C T SNP SVOP ENST00000299134 human ensembl 69_37n -1 known splice_site c.572+1 e6+1 1.000 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SVOP HGNC ENSG00000166111 229 0 0.00 174 97 35.79 - - - TBC1D28 0 genome.wustl.edu 37 17 18544650 18544650 + Missense_Mutation SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 17 18544650 18544650 C T SNP TBC1D28 ENST00000345096 human ensembl 69_37n -1 known missense c.16 p.D6N 0.665 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D28 HGNC ENSG00000189375 130 0 0.00 94 16 14.41 - - - TMEM182 0 genome.wustl.edu 37 2 103414461 103414461 + Splice_Site SNP T T C TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 2 103414461 103414461 T C SNP TMEM182 ENST00000412401 human ensembl 69_37n +1 known splice_site c.469+2 e4+2 1.000 - - - no_errors TMEM182 HGNC ENSG00000170417 136 0 0.00 72 32 30.77 - - - TMTC4 0 genome.wustl.edu 37 13 101288959 101288959 + Missense_Mutation SNP C C A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 13 101288959 101288959 C A SNP TMTC4 ENST00000342624 human ensembl 69_37n -1 known missense c.1029 p.L343F 1.000 pfam_DUF1736 pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 170 0 0.00 83 19 18.45 - - - TP53 0 genome.wustl.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 17 7578526 7578526 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.404 p.C135Y 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 138 0 0.00 59 56 48.28 - - - TRO 0 genome.wustl.edu 37 X 54955699 54955699 + Missense_Mutation SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec X 54955699 54955699 G A SNP TRO ENST00000173898 human ensembl 69_37n +1 known missense c.2542 p.G848S 0.937 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 36 0 0.00 40 12 23.08 - - - TTN 0 genome.wustl.edu 37 2 179422748 179422748 + Silent SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 2 179422748 179422748 G A SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.79629 p.D26543 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 68 0 0.00 45 18 28.57 - - - TTN 0 genome.wustl.edu 37 2 179641907 179641907 + Missense_Mutation SNP T T A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 2 179641907 179641907 T A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.4783 p.I1595F 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 275 0 0.00 215 70 24.48 - - - UGT8 0 genome.wustl.edu 37 4 115544067 115544067 + Silent SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 4 115544067 115544067 C T SNP UGT8 ENST00000310836 human ensembl 69_37n +1 known silent c.31 p.L11 1.000 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC ENSG00000174607 80 0 0.00 65 21 24.42 - - - UNC93A 0 genome.wustl.edu 37 6 167709557 167709557 + Missense_Mutation SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 6 167709557 167709557 G A SNP UNC93A ENST00000230256 human ensembl 69_37n +1 known missense c.307 p.G103R 0.988 pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 139 0 0.00 100 34 25.37 - - - UTRN 0 genome.wustl.edu 37 6 144832252 144832252 + Missense_Mutation SNP C C G TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 6 144832252 144832252 C G SNP UTRN ENST00000367545 human ensembl 69_37n +1 known missense c.4937 p.T1646S 0.915 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 71 0 0.00 121 27 18.24 - - - VCPIP1 0 genome.wustl.edu 37 8 67547342 67547342 + Silent SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 8 67547342 67547342 G A SNP VCPIP1 ENST00000310421 human ensembl 69_37n -1 known silent c.3063 p.N1021 0.999 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 116 0 0.00 88 30 25.42 - - - ZFP64 0 genome.wustl.edu 37 20 50769440 50769440 + Missense_Mutation SNP C C A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 20 50769440 50769440 C A SNP ZFP64 ENST00000216923 human ensembl 69_37n -1 known missense c.1291 p.D431Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 34 0 0.00 60 15 20.00 - - - ZNF876P 0 genome.wustl.edu 37 4 247392 247392 + RNA SNP C C T TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d2291482-9bbb-4f8f-a65b-c0737cf3acea eba08b28-762e-4d9d-a5ee-c180ce7621ec 4 247392 247392 C T SNP ZNF876P ENST00000356347 human ensembl 69_37n +1 known rna NULL NULL 0.003 - - - no_errors ZNF876P HGNC ENSG00000198155 33 0 0.00 19 6 24.00 - - -