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 ACTL6A 0 genome.wustl.edu 37 3 179291212 179291212 + Nonsense_Mutation SNP C C G TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 3 179291212 179291212 C G SNP ACTL6A ENST00000487978 human ensembl 69_37n +1 known nonsense c.317 p.S106* 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ACTL6A HGNC ENSG00000136518 209 0 0.00 215 48 17.91 - - - ALOXE3 0 genome.wustl.edu 37 17 8000125 8000125 + Splice_Site SNP C C G TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 17 8000125 8000125 C G SNP ALOXE3 ENST00000318227 human ensembl 69_37n -1 known splice_site c.2353-1 e16-1 1.000 - - - no_errors ALOXE3 HGNC ENSG00000179148 436 1 0.23 47 42 47.19 - - - ANO2 0 genome.wustl.edu 37 12 5936967 5936967 + Missense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 12 5936967 5936967 C T SNP ANO2 ENST00000356134 human ensembl 69_37n -1 known missense c.851 p.R284H 1.000 NULL pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 45 0 0.00 66 8 10.81 - - - APEX2 0 genome.wustl.edu 37 X 55033173 55033173 + Missense_Mutation SNP G G A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 X 55033173 55033173 G A SNP APEX2 ENST00000374987 human ensembl 69_37n +1 known missense c.862 p.D288N 0.048 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III - no_errors APEX2 HGNC ENSG00000169188 155 1 0.64 50 18 26.47 - - - ATRX 0 genome.wustl.edu 37 X 76890106 76890106 + Missense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 X 76890106 76890106 C T SNP ATRX ENST00000373344 human ensembl 69_37n -1 known missense c.4788 p.M1596I 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 231 0 0.00 332 84 20.19 - - - ATRX 0 genome.wustl.edu 37 X 76940061 76940061 + Silent SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 X 76940061 76940061 C T SNP ATRX ENST00000373344 human ensembl 69_37n -1 known silent c.687 p.L229 1.000 superfamily_Znf_FYVE_PHD pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 52 0 0.00 51 12 19.05 - - - BBS10 0 genome.wustl.edu 37 12 76740150 76740150 + Missense_Mutation SNP G G A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 12 76740150 76740150 G A SNP BBS10 ENST00000393262 human ensembl 69_37n -1 known missense c.1615 p.P539S 0.001 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS10 HGNC ENSG00000179941 191 0 0.00 253 225 47.07 - - - BTK 0 genome.wustl.edu 37 X 100614283 100614283 + Missense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 X 100614283 100614283 C T SNP BTK ENST00000308731 human ensembl 69_37n -1 known missense c.892 p.E298K 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 198 0 0.00 120 40 25.00 - - - C12orf42 0 genome.wustl.edu 37 12 103695971 103695971 + Missense_Mutation SNP G G A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 12 103695971 103695971 G A SNP C12orf42 ENST00000378113 human ensembl 69_37n -1 known missense c.998 p.S333L 0.000 NULL NULL - no_errors C12orf42 HGNC ENSG00000179088 14 0 0.00 17 6 26.09 - - - C14orf102 0 genome.wustl.edu 37 14 90756754 90756754 + Frame_Shift_Del DEL G G - TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 14 90756754 90756754 G - DEL C14orf102 ENST00000354366 human ensembl 69_37n -1 known frame_shift_del c.2040 p.F680fs 0.000 NULL pfam_NRDE-2 - no_errors C14orf102 HGNC ENSG00000119720 118 0 0.00 69 39 34.82 - - - C14orf102 0 genome.wustl.edu 37 14 90756755 90756755 + Missense_Mutation SNP A A T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 14 90756755 90756755 A T SNP C14orf102 ENST00000354366 human ensembl 69_37n -1 known missense c.2039 p.F680Y 0.002 NULL pfam_NRDE-2 - no_errors C14orf102 HGNC ENSG00000119720 120 0 0.00 71 40 36.04 - - - C5 0 genome.wustl.edu 37 9 123722615 123722615 + Missense_Mutation SNP G G A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 9 123722615 123722615 G A SNP C5 ENST00000223642 human ensembl 69_37n -1 known missense c.4589 p.A1530V 1.000 superfamily_TIMP-like_OB-fold pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C5 HGNC ENSG00000106804 179 0 0.00 187 63 25.10 - - - C9orf43 0 genome.wustl.edu 37 9 116175869 116175869 + Missense_Mutation SNP G G C TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 9 116175869 116175869 G C SNP C9orf43 ENST00000288462 human ensembl 69_37n +1 known missense c.96 p.E32D 0.972 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 175 0 0.00 81 20 19.80 - - - CBLB 0 genome.wustl.edu 37 3 105439088 105439088 + Missense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 3 105439088 105439088 C T SNP CBLB ENST00000264122 human ensembl 69_37n -1 known missense c.1210 p.D404N 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 115 0 0.00 92 16 14.81 - - - CDKN1B 0 genome.wustl.edu 37 12 12870853 12870853 + Nonsense_Mutation SNP C C A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 12 12870853 12870853 C A SNP CDKN1B ENST00000228872 human ensembl 69_37n +1 known nonsense c.80 p.S27* 1.000 NULL pfam_CDI - no_errors CDKN1B HGNC ENSG00000111276 37 0 0.00 58 24 29.27 - - - CEMP1 0 genome.wustl.edu 37 16 2580833 2580833 + Missense_Mutation SNP C C G TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 16 2580833 2580833 C G SNP CEMP1 ENST00000382350 human ensembl 69_37n -1 known missense c.242 p.R81P 0.000 NULL NULL - no_errors CEMP1 HGNC ENSG00000205923 33 0 0.00 32 17 34.69 - - - CHPT1 0 genome.wustl.edu 37 12 102117533 102117533 + Nonsense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 12 102117533 102117533 C T SNP CHPT1 ENST00000229266 human ensembl 69_37n +1 known nonsense c.973 p.Q325* 1.000 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CHPT1 HGNC ENSG00000111666 102 0 0.00 301 134 30.80 - - - CNTN6 0 genome.wustl.edu 37 3 1424982 1424982 + Nonsense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 3 1424982 1424982 C T SNP CNTN6 ENST00000350110 human ensembl 69_37n +1 known nonsense c.2407 p.Q803* 0.994 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN6 HGNC ENSG00000134115 215 0 0.00 199 96 32.54 - - - CWH43 0 genome.wustl.edu 37 4 49030718 49030718 + Missense_Mutation SNP C C G TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 4 49030718 49030718 C G SNP CWH43 ENST00000226432 human ensembl 69_37n +1 known missense c.1339 p.L447V 0.939 superfamily_Endo/exonuclease/phosphatase superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 265 0 0.00 166 47 21.96 - - - CYP4F11 0 genome.wustl.edu 37 19 16034795 16034795 + Missense_Mutation SNP G G C TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 19 16034795 16034795 G C SNP CYP4F11 ENST00000248041 human ensembl 69_37n -1 known missense c.745 p.L249V 0.820 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 189 0 0.00 103 23 18.25 - - - DNAJC9 0 genome.wustl.edu 37 10 75003169 75003169 + Missense_Mutation SNP C C G TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 10 75003169 75003169 C G SNP DNAJC9 ENST00000372950 human ensembl 69_37n -1 known missense c.772 p.E258Q 1.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors DNAJC9 HGNC ENSG00000213551 102 0 0.00 190 110 36.67 - - - EGFR 0 genome.wustl.edu 37 7 55223635 55223635 + Silent SNP C C A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 7 55223635 55223635 C A SNP EGFR ENST00000275493 human ensembl 69_37n +1 known silent c.1002 p.R334 0.993 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 37 0 0.00 16 6 27.27 - - - FRMPD4 0 genome.wustl.edu 37 X 12734858 12734858 + Silent SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 X 12734858 12734858 C T SNP FRMPD4 ENST00000380682 human ensembl 69_37n +1 known silent c.2280 p.L760 0.972 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors FRMPD4 HGNC ENSG00000169933 228 0 0.00 110 19 14.62 - - - GPR110 0 genome.wustl.edu 37 6 46977528 46977528 + Missense_Mutation SNP C C A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 6 46977528 46977528 C A SNP GPR110 ENST00000371253 human ensembl 69_37n -1 known missense c.1643 p.G548V 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 266 0 0.00 85 74 46.54 - - - GRK1 0 genome.wustl.edu 37 13 114324090 114324093 + Frame_Shift_Del DEL TCTG TCTG - TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 TCTG TCTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 13 114324090 114324093 TCTG - DEL GRK1 ENST00000335678 human ensembl 69_37n +1 known frame_shift_del c.788_791 p.C264fs 1.000:1.000:1.000:1.000 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,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom - no_errors GRK1 HGNC ENSG00000185974 127 0 0.00 152 49 24.14 - - - IQUB 0 genome.wustl.edu 37 7 123152129 123152129 + Missense_Mutation SNP G G A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 7 123152129 123152129 G A SNP IQUB ENST00000324698 human ensembl 69_37n -1 known missense c.266 p.S89L 0.000 NULL pfam_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 358 0 0.00 280 56 16.67 - - - KCNB2 0 genome.wustl.edu 37 8 73849283 73849283 + Missense_Mutation SNP G G A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 8 73849283 73849283 G A SNP KCNB2 ENST00000523207 human ensembl 69_37n +1 known missense c.1693 p.E565K 0.597 pfam_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv2.2 pfam_K_chnl_volt-dep_Kv2,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_Kv2.2,prints_K_chnl_volt-dep_Kv2,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_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 167 1 0.60 123 26 17.45 - - - KIAA1210 0 genome.wustl.edu 37 X 118223589 118223589 + Missense_Mutation SNP C C G TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 X 118223589 118223589 C G SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.1604 p.R535T 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 885 0 0.00 568 266 31.86 - - - LAMTOR2 0 genome.wustl.edu 37 1 156024726 156024726 + Missense_Mutation SNP A A G TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 1 156024726 156024726 A G SNP LAMTOR2 ENST00000368302 human ensembl 69_37n +1 known missense c.46 p.T16A 1.000 pfam_Dynein_light-rel,smart_Dynein_light-rel pfam_Dynein_light-rel,smart_Dynein_light-rel - no_errors LAMTOR2 HGNC ENSG00000116586 12 0 0.00 17 10 37.04 - - - LCA5L 0 genome.wustl.edu 37 21 40783710 40783710 + Missense_Mutation SNP C C G TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 21 40783710 40783710 C G SNP LCA5L ENST00000288350 human ensembl 69_37n -1 known missense c.994 p.E332Q 0.986 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 72 0 0.00 221 42 15.79 - - - LYZL6 0 genome.wustl.edu 37 17 34264771 34264771 + Missense_Mutation SNP C C G TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 17 34264771 34264771 C G SNP LYZL6 ENST00000293274 human ensembl 69_37n -1 known missense c.289 p.D97H 0.009 pfam_Glyco_hydro_22,pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL6 HGNC ENSG00000161572 153 1 0.65 147 29 16.48 - - - MAGEB2 0 genome.wustl.edu 37 X 30237091 30237091 + Missense_Mutation SNP G G A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 X 30237091 30237091 G A SNP MAGEB2 ENST00000378988 human ensembl 69_37n +1 known missense c.394 p.V132I 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC ENSG00000099399 139 0 0.00 165 75 31.25 - - - MAPK1 0 genome.wustl.edu 37 22 22162014 22162014 + Missense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 22 22162014 22162014 C T SNP MAPK1 ENST00000215832 human ensembl 69_37n -1 known missense c.241 p.E81K 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,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 402 0 0.00 266 99 27.12 - - - MRPL45 0 genome.wustl.edu 37 17 36478038 36478038 + Silent SNP G G A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 17 36478038 36478038 G A SNP MRPL45 ENST00000312513 human ensembl 69_37n +1 known silent c.690 p.R230 0.986 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45 pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45 - no_errors MRPL45 HGNC ENSG00000174100 279 0 0.00 123 88 41.51 - - - MUS81 0 genome.wustl.edu 37 11 65629461 65629461 + Nonsense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 11 65629461 65629461 C T SNP MUS81 ENST00000524647 human ensembl 69_37n +1 known nonsense c.289 p.Q97* 0.994 NULL pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA-dir_DNA_pol_X_beta-like_N,smart_ERCC4_domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MUS81 HGNC ENSG00000172732 10 0 0.00 45 10 17.86 - - - OR10D3 0 genome.wustl.edu 37 11 124056377 124056377 + Missense_Mutation SNP T T C TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 11 124056377 124056377 T C SNP OR10D3 ENST00000318666 human ensembl 69_37n +1 known missense c.401 p.V134A 0.009 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 OR10D3 HGNC ENSG00000197309 27 0 0.00 9 11 55.00 - - - PAPPA 0 genome.wustl.edu 37 9 119097272 119097272 + Missense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 9 119097272 119097272 C T SNP PAPPA ENST00000328252 human ensembl 69_37n +1 known missense c.3530 p.A1177V 1.000 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 116 0 0.00 20 17 45.95 - - - PCDHB1 0 genome.wustl.edu 37 5 140431164 140431164 + Missense_Mutation SNP G G C TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 5 140431164 140431164 G C SNP PCDHB1 ENST00000306549 human ensembl 69_37n +1 known missense c.109 p.E37Q 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 156 0 0.00 177 61 25.52 - - - PF4 0 genome.wustl.edu 37 4 74847580 74847580 + Missense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 4 74847580 74847580 C T SNP PF4 ENST00000296029 human ensembl 69_37n -1 known missense c.91 p.A31T 0.380 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC - no_errors PF4 HGNC ENSG00000163737 30 0 0.00 17 5 22.73 - - - PIK3CA 0 genome.wustl.edu 37 3 178916944 178916946 + In_Frame_Del DEL AAG AAG - TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 3 178916944 178916946 AAG - DEL PIK3CA ENST00000263967 human ensembl 69_37n +1 known in_frame_del c.331_333 p.K111in_frame_del 1.000:1.000:1.000 NULL 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 61 0 0.00 87 61 40.94 - - - PLD5 0 genome.wustl.edu 37 1 242277235 242277235 + Missense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 1 242277235 242277235 C T SNP PLD5 ENST00000536534 human ensembl 69_37n -1 known missense c.1027 p.A343T 0.979 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 249 0 0.00 264 42 13.68 - - - PPP2R5E 0 genome.wustl.edu 37 14 63842801 63842801 + Missense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 14 63842801 63842801 C T SNP PPP2R5E ENST00000337537 human ensembl 69_37n -1 known missense c.1330 p.E444K 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC ENSG00000154001 632 0 0.00 484 119 19.73 - - - PSMD1 0 genome.wustl.edu 37 2 232035376 232035376 + Missense_Mutation SNP G G A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 2 232035376 232035376 G A SNP PSMD1 ENST00000308696 human ensembl 69_37n +1 known missense c.2812 p.E938K 1.000 pirsf_26S_Psome_Rpn2 pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 422 0 0.00 207 74 26.24 - - - RARB 0 genome.wustl.edu 37 3 25622090 25622090 + Silent SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 3 25622090 25622090 C T SNP RARB ENST00000404969 human ensembl 69_37n +1 known silent c.684 p.F228 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 217 0 0.00 159 33 17.19 - - - RBMXL3 0 genome.wustl.edu 37 X 114424076 114424076 + Silent SNP C C A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 X 114424076 114424076 C A SNP RBMXL3 ENST00000424776 human ensembl 69_37n +1 known silent c.72 p.L24 0.147 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 26 0 0.00 81 50 37.88 - - - RELN 0 genome.wustl.edu 37 7 103301856 103301856 + Missense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 7 103301856 103301856 C T SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.1408 p.G470S 0.971 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 284 0 0.00 156 69 30.67 - - - RIF1 0 genome.wustl.edu 37 2 152320040 152320040 + Missense_Mutation SNP G G A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 2 152320040 152320040 G A SNP RIF1 ENST00000243326 human ensembl 69_37n +1 known missense c.4006 p.E1336K 0.934 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 84 0 0.00 176 87 33.08 - - - SLC12A2 0 genome.wustl.edu 37 5 127474341 127474341 + Missense_Mutation SNP C C G TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 5 127474341 127474341 C G SNP SLC12A2 ENST00000262461 human ensembl 69_37n +1 known missense c.1461 p.F487L 1.000 pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 253 0 0.00 695 110 13.65 - - - SNTG1 0 genome.wustl.edu 37 8 51363125 51363125 + Missense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 8 51363125 51363125 C T SNP SNTG1 ENST00000518864 human ensembl 69_37n +1 known missense c.287 p.S96L 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 444 0 0.00 551 97 14.97 - - - SPATA19 0 genome.wustl.edu 37 11 133712412 133712412 + Silent SNP G G A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 11 133712412 133712412 G A SNP SPATA19 ENST00000299140 human ensembl 69_37n -1 known silent c.405 p.I135 0.022 NULL NULL - no_errors SPATA19 HGNC ENSG00000166118 324 1 0.31 177 42 19.18 - - - TGFBR1 0 genome.wustl.edu 37 9 101908824 101908824 + Missense_Mutation SNP C C G TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 9 101908824 101908824 C G SNP TGFBR1 ENST00000374994 human ensembl 69_37n +1 known missense c.1188 p.F396L 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,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,superfamily_Quinolinate_PRibosylTrfase_C,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TGFBR1 HGNC ENSG00000106799 286 0 0.00 252 173 40.71 - - - TGFBR2 0 genome.wustl.edu 37 3 30691805 30691805 + Missense_Mutation SNP G G A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 3 30691805 30691805 G A SNP TGFBR2 ENST00000359013 human ensembl 69_37n +1 known missense c.382 p.D128N 1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom - no_errors TGFBR2 HGNC ENSG00000163513 264 0 0.00 173 68 28.22 - - - TRBV7-4 0 genome.wustl.edu 37 7 142176456 142176456 + Nonsense_Mutation SNP G G A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 7 142176456 142176456 G A SNP TRBV7-4 ENST00000390369 human ensembl 69_37n -1 known nonsense c.220 p.R74* 0.000 pfam_Ig_V-set,pfscan_Ig-like pfam_Ig_V-set,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV7-4 HGNC ENSG00000253409 265 0 0.00 109 47 29.94 - - - TRIM5 0 genome.wustl.edu 37 11 5686469 5686469 + Missense_Mutation SNP G G C TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 11 5686469 5686469 G C SNP TRIM5 ENST00000305836 human ensembl 69_37n -1 known missense c.1052 p.S351C 0.000 superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM5 HGNC ENSG00000132256 410 0 0.00 107 87 44.62 - - - WHAMMP2 0 genome.wustl.edu 37 15 28986360 28986360 + RNA SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 15 28986360 28986360 C T SNP WHAMMP2 ENST00000508764 human ensembl 69_37n +1 putative rna NULL NULL 0.999 - - - no_errors WHAMMP2 HGNC ENSG00000248334 194 0 0.00 243 66 21.36 - - - WSCD1 0 genome.wustl.edu 37 17 6021367 6021367 + Missense_Mutation SNP G G A TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 17 6021367 6021367 G A SNP WSCD1 ENST00000317744 human ensembl 69_37n +1 known missense c.1234 p.E412K 1.000 NULL pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 80 0 0.00 48 50 51.02 - - - ZNF131 0 genome.wustl.edu 37 5 43175143 43175143 + Missense_Mutation SNP G G C TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 5 43175143 43175143 G C SNP ZNF131 ENST00000399534 human ensembl 69_37n +1 known missense c.1780 p.D594H 0.003 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 107 0 0.00 84 68 44.74 - - - ZNF268 0 genome.wustl.edu 37 12 133779637 133779637 + Silent SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 12 133779637 133779637 C T SNP ZNF268 ENST00000228289 human ensembl 69_37n +1 known silent c.1365 p.F455 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF268 HGNC ENSG00000090612 158 0 0.00 274 49 15.12 - - - ZNF484 0 genome.wustl.edu 37 9 95608938 95608938 + Missense_Mutation SNP G G C TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 9 95608938 95608938 G C SNP ZNF484 ENST00000395506 human ensembl 69_37n -1 known missense c.2137 p.Q713E 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF484 HGNC ENSG00000127081 87 0 0.00 128 70 35.18 - - - ZNF484 0 genome.wustl.edu 37 9 95609116 95609116 + Silent SNP G G C TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 9 95609116 95609116 G C SNP ZNF484 ENST00000395506 human ensembl 69_37n -1 known silent c.1959 p.L653 0.036 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF484 HGNC ENSG00000127081 111 0 0.00 132 73 35.44 - - - ZNF484 0 genome.wustl.edu 37 9 95610467 95610467 + Missense_Mutation SNP G G C TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 9 95610467 95610467 G C SNP ZNF484 ENST00000395506 human ensembl 69_37n -1 known missense c.608 p.S203C 0.039 NULL 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 ZNF484 HGNC ENSG00000127081 118 0 0.00 160 107 39.93 - - - ZNF521 0 genome.wustl.edu 37 18 22806691 22806691 + Silent SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 18 22806691 22806691 C T SNP ZNF521 ENST00000361524 human ensembl 69_37n -1 known silent c.1191 p.S397 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 98 0 0.00 137 34 19.88 - - - ZNF737 0 genome.wustl.edu 37 19 20728657 20728657 + Missense_Mutation SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 19 20728657 20728657 C T SNP ZNF737 ENST00000427401 human ensembl 69_37n -1 known missense c.352 p.E118K 0.716 NULL 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 ZNF737 HGNC ENSG00000237440 467 0 0.00 498 104 17.28 - - - ZSCAN12 0 genome.wustl.edu 37 6 28358960 28358960 + Silent SNP C C T TCGA-BH-A0B5-01A-11D-A12Q-09 TCGA-BH-A0B5-11A-23W-A14O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx dfa0f8ea-ae94-4673-9751-f6cdad26022a 74428f88-9ecb-427b-83a6-faee8ee09c24 6 28358960 28358960 C T SNP ZSCAN12 ENST00000361028 human ensembl 69_37n -1 known silent c.1107 p.Q369 0.068 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN12 HGNC ENSG00000158691 329 0 0.00 148 80 35.09 - - -