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 AIM1L 0 genome.wustl.edu 37 1 26658066 26658067 + Frame_Shift_Ins INS - - A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 1 26658066 26658067 - A INS AIM1L ENST00000527815 human ensembl 69_37n -1 known frame_shift_ins c.1606_1605 p.I535fs 0.994:0.993 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 37 0 0.00 49 129 72.47 - - - AIM1L 0 genome.wustl.edu 37 1 26658066 26658067 + Frame_Shift_Ins INS - - A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 1 26658066 26658067 - A INS AIM1L ENST00000527815 human ensembl 69_37n -1 known frame_shift_ins c.1606_1605 p.I535fs 0.994:0.993 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 35 0 0.00 49 129 72.47 - - - ANXA13 0 genome.wustl.edu 37 8 124693590 124693590 + Nonsense_Mutation SNP G G A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 8 124693590 124693590 G A SNP ANXA13 ENST00000262219 human ensembl 69_37n -1 known nonsense c.964 p.Q322* 0.471 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 248 0 0.00 431 150 25.82 - - - ANXA13 0 genome.wustl.edu 37 8 124693590 124693590 + Nonsense_Mutation SNP G G A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 8 124693590 124693590 G A SNP ANXA13 ENST00000262219 human ensembl 69_37n -1 known nonsense c.964 p.Q322* 0.471 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 260 0 0.00 431 150 25.82 - - - BTNL3 0 genome.wustl.edu 37 5 180420116 180420116 + Missense_Mutation SNP C C A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 5 180420116 180420116 C A SNP BTNL3 ENST00000342868 human ensembl 69_37n +1 known missense c.353 p.S118Y 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTNL3 HGNC ENSG00000168903 43 0 0.00 82 21 20.39 - - - BTNL3 0 genome.wustl.edu 37 5 180420116 180420116 + Missense_Mutation SNP C C A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 5 180420116 180420116 C A SNP BTNL3 ENST00000342868 human ensembl 69_37n +1 known missense c.353 p.S118Y 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTNL3 HGNC ENSG00000168903 44 0 0.00 82 21 20.39 - - - CBLN1 0 genome.wustl.edu 37 16 49315311 49315312 + Frame_Shift_Ins INS - - A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 16 49315311 49315312 - A INS CBLN1 ENST00000219197 human ensembl 69_37n -1 known frame_shift_ins c.66_65 p.Q22fs 1.000:1.000 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 12 0 0.00 9 11 55.00 - - - CCDC74A 0 genome.wustl.edu 37 2 132289349 132289349 + Silent SNP A A G TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 2 132289349 132289349 A G SNP CCDC74A ENST00000295171 human ensembl 69_37n +1 known silent c.657 p.K219 0.017 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 35 0 0.00 41 5 10.87 - - - CDH24 0 genome.wustl.edu 37 14 23523784 23523785 + Frame_Shift_Ins INS - - C TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 14 23523784 23523785 - C INS CDH24 ENST00000267383 human ensembl 69_37n -1 known frame_shift_ins c.715_714 p.L238fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 22 0 0.00 46 6 11.54 - - - CDK14 0 genome.wustl.edu 37 7 90233551 90233551 + Silent SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 7 90233551 90233551 C T SNP CDK14 ENST00000380050 human ensembl 69_37n +1 known silent c.111 p.T37 1.000 NULL 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 CDK14 HGNC ENSG00000058091 25 0 0.00 24 4 14.29 - - - CDRT15P1 0 genome.wustl.edu 37 17 13928289 13928289 + RNA SNP G G A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 17 13928289 13928289 G A SNP CDRT15P1 ENST00000268714 human ensembl 69_37n +1 known rna NULL NULL 0.004 - - - no_errors CDRT15P1 HGNC ENSG00000141028 18 0 0.00 17 8 32.00 - - - CLN3 0 genome.wustl.edu 37 16 28498857 28498858 + Frame_Shift_Ins INS - - G TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 16 28498857 28498858 - G INS CLN3 ENST00000359984 human ensembl 69_37n -1 known frame_shift_ins c.380_379 p.R127fs 1.000:1.000 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 - no_errors CLN3 HGNC ENSG00000188603 31 0 0.00 27 8 22.86 - - - CLN3 0 genome.wustl.edu 37 16 28498857 28498858 + Frame_Shift_Ins INS - - G TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 16 28498857 28498858 - G INS CLN3 ENST00000359984 human ensembl 69_37n -1 known frame_shift_ins c.380_379 p.R127fs 1.000:1.000 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 - no_errors CLN3 HGNC ENSG00000188603 40 0 0.00 27 8 22.86 - - - DEDD2 0 genome.wustl.edu 37 19 42713899 42713900 + Frame_Shift_Ins INS - - GC TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 19 42713899 42713900 - GC INS DEDD2 ENST00000336034 human ensembl 69_37n -1 known frame_shift_ins c.542_541 p.Q181fs 1.000:1.000 NULL pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED - no_errors DEDD2 HGNC ENSG00000160570 91 0 0.00 103 79 43.41 - - - DEDD2 0 genome.wustl.edu 37 19 42713899 42713900 + Frame_Shift_Ins INS - - GC TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 19 42713899 42713900 - GC INS DEDD2 ENST00000336034 human ensembl 69_37n -1 known frame_shift_ins c.542_541 p.Q181fs 1.000:1.000 NULL pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED - no_errors DEDD2 HGNC ENSG00000160570 50 0 0.00 103 79 43.41 - - - DEDD2 0 genome.wustl.edu 37 19 42713903 42713903 + Frame_Shift_Del DEL G G - TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 19 42713903 42713903 G - DEL DEDD2 ENST00000336034 human ensembl 69_37n -1 known frame_shift_del c.538 p.Q180fs 0.998 NULL pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED - no_errors DEDD2 HGNC ENSG00000160570 86 0 0.00 86 76 46.91 - - - DEDD2 0 genome.wustl.edu 37 19 42713903 42713903 + Frame_Shift_Del DEL G G - TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 19 42713903 42713903 G - DEL DEDD2 ENST00000336034 human ensembl 69_37n -1 known frame_shift_del c.538 p.Q180fs 0.998 NULL pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED - no_errors DEDD2 HGNC ENSG00000160570 54 0 0.00 86 76 46.91 - - - DHX32 0 genome.wustl.edu 37 10 127530357 127530357 + Missense_Mutation SNP A A T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 10 127530357 127530357 A T SNP DHX32 ENST00000284690 human ensembl 69_37n -1 known missense c.1498 p.F500I 1.000 pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 63 0 0.00 65 43 39.81 - - - DHX32 0 genome.wustl.edu 37 10 127530357 127530357 + Missense_Mutation SNP A A T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 10 127530357 127530357 A T SNP DHX32 ENST00000284690 human ensembl 69_37n -1 known missense c.1498 p.F500I 1.000 pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 81 0 0.00 65 43 39.81 - - - EPN1 0 genome.wustl.edu 37 19 56203361 56203361 + Missense_Mutation SNP G G A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 19 56203361 56203361 G A SNP EPN1 ENST00000411543 human ensembl 69_37n +1 known missense c.1262 p.G421D 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 10 0 0.00 7 9 56.25 - - - ESX1 0 genome.wustl.edu 37 X 103494943 103494944 + Frame_Shift_Ins INS - - T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc X 103494943 103494944 - T INS ESX1 ENST00000372588 human ensembl 69_37n -1 known frame_shift_ins c.1187_1186 p.V396fs 0.004:0.104 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_POU,pfscan_Homeodomain - no_errors ESX1 HGNC ENSG00000123576 59 0 0.00 46 6 11.54 - - - FAM217B 0 genome.wustl.edu 37 20 58520079 58520079 + Missense_Mutation SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 20 58520079 58520079 C T SNP FAM217B ENST00000358293 human ensembl 69_37n +1 known missense c.1081 p.H361Y 0.000 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 111 0 0.00 219 28 11.34 - - - FAM217B 0 genome.wustl.edu 37 20 58520079 58520079 + Missense_Mutation SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 20 58520079 58520079 C T SNP FAM217B ENST00000358293 human ensembl 69_37n +1 known missense c.1081 p.H361Y 0.000 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 116 0 0.00 219 28 11.34 - - - FNDC1 0 genome.wustl.edu 37 6 159670105 159670105 + Missense_Mutation SNP C C A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 6 159670105 159670105 C A SNP FNDC1 ENST00000329629 human ensembl 69_37n +1 novel missense c.4411 p.H1471N 0.985 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FNDC1 HGNC ENSG00000164694 26 0 0.00 7 16 69.57 - - - FNDC1 0 genome.wustl.edu 37 6 159670105 159670105 + Missense_Mutation SNP C C A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 6 159670105 159670105 C A SNP FNDC1 ENST00000329629 human ensembl 69_37n +1 novel missense c.4411 p.H1471N 0.985 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FNDC1 HGNC ENSG00000164694 28 0 0.00 7 16 69.57 - - - HDGFRP2 0 genome.wustl.edu 37 19 4499592 4499594 + In_Frame_Del DEL AGT AGT - TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 AGT AGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 19 4499592 4499594 AGT - DEL HDGFRP2 ENST00000301284 human ensembl 69_37n +1 known in_frame_del c.1680_1682 p.V561in_frame_del 0.727:0.733:0.021 pfam_LEDGF pfam_LEDGF,pfam_PWWP,smart_PWWP,pfscan_PWWP - no_errors CTB-50L17.10 Clone_based_vega_gene ENSG00000167674 15 0 0.00 10 8 44.44 - - - HNRNPD 0 genome.wustl.edu 37 4 83277695 83277695 + Missense_Mutation SNP T T C TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 4 83277695 83277695 T C SNP HNRNPD ENST00000313899 human ensembl 69_37n -1 known missense c.995 p.Y332C 1.000 NULL pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPD HGNC ENSG00000138668 163 0 0.00 46 117 71.78 - - - HNRNPD 0 genome.wustl.edu 37 4 83277695 83277695 + Missense_Mutation SNP T T C TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 4 83277695 83277695 T C SNP HNRNPD ENST00000313899 human ensembl 69_37n -1 known missense c.995 p.Y332C 1.000 NULL pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPD HGNC ENSG00000138668 272 0 0.00 46 117 71.78 - - - KIAA0195 0 genome.wustl.edu 37 17 73490997 73490997 + Frame_Shift_Del DEL C C - TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 17 73490997 73490997 C - DEL KIAA0195 ENST00000314256 human ensembl 69_37n +1 known frame_shift_del c.2610 p.L871fs 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 36 0 0.00 66 56 45.90 - - - KIAA0195 0 genome.wustl.edu 37 17 73490997 73490997 + Frame_Shift_Del DEL C C - TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 17 73490997 73490997 C - DEL KIAA0195 ENST00000314256 human ensembl 69_37n +1 known frame_shift_del c.2610 p.L871fs 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 48 0 0.00 66 56 45.90 - - - MUC5B 0 genome.wustl.edu 37 11 1268931 1268931 + Silent SNP A A C TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 11 1268931 1268931 A C SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known silent c.10830 p.A3610 0.000 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 9 0 0.00 1 4 80.00 - - - MUC5B 0 genome.wustl.edu 37 11 1270250 1270250 + Missense_Mutation SNP G G T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 11 1270250 1270250 G T SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known missense c.12149 p.G4050V 0.000 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 12 0 0.00 5 3 37.50 - - - MYO10 0 genome.wustl.edu 37 5 16675085 16675085 + Missense_Mutation SNP G G C TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 5 16675085 16675085 G C SNP MYO10 ENST00000513610 human ensembl 69_37n -1 known missense c.4841 p.T1614S 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 120 0 0.00 147 23 13.53 - - - MYO10 0 genome.wustl.edu 37 5 16675085 16675085 + Missense_Mutation SNP G G C TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 5 16675085 16675085 G C SNP MYO10 ENST00000513610 human ensembl 69_37n -1 known missense c.4841 p.T1614S 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 129 0 0.00 147 23 13.53 - - - OR2G6 0 genome.wustl.edu 37 1 248685620 248685620 + Missense_Mutation SNP G G T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 1 248685620 248685620 G T SNP OR2G6 ENST00000343414 human ensembl 69_37n +1 known missense c.673 p.V225L 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 305 0 0.00 289 174 37.50 - - - OR2G6 0 genome.wustl.edu 37 1 248685620 248685620 + Missense_Mutation SNP G G T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 1 248685620 248685620 G T SNP OR2G6 ENST00000343414 human ensembl 69_37n +1 known missense c.673 p.V225L 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 298 0 0.00 289 174 37.50 - - - PCDHA1 0 genome.wustl.edu 37 5 140167742 140167742 + Missense_Mutation SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 5 140167742 140167742 C T SNP PCDHA1 ENST00000504120 human ensembl 69_37n +1 known missense c.1867 p.R623C 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 19 0 0.00 59 20 25.32 - - - PCDHA1 0 genome.wustl.edu 37 5 140167742 140167742 + Missense_Mutation SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 5 140167742 140167742 C T SNP PCDHA1 ENST00000504120 human ensembl 69_37n +1 known missense c.1867 p.R623C 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 40 0 0.00 59 20 25.32 - - - PHF15 0 genome.wustl.edu 37 5 133896481 133896481 + Missense_Mutation SNP A A G TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 5 133896481 133896481 A G SNP PHF15 ENST00000448712 human ensembl 69_37n +1 known missense c.566 p.E189G 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 29 0 0.00 12 13 52.00 - - - PHF15 0 genome.wustl.edu 37 5 133896481 133896481 + Missense_Mutation SNP A A G TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 5 133896481 133896481 A G SNP PHF15 ENST00000448712 human ensembl 69_37n +1 known missense c.566 p.E189G 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 15 0 0.00 12 13 52.00 - - - POP5 0 genome.wustl.edu 37 12 121018957 121018957 + Nonsense_Mutation SNP C C A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 12 121018957 121018957 C A SNP POP5 ENST00000357500 human ensembl 69_37n -1 known nonsense c.124 p.G42* 1.000 pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5 pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5 - no_errors POP5 HGNC ENSG00000167272 39 0 0.00 41 21 33.87 - - - POP5 0 genome.wustl.edu 37 12 121018957 121018957 + Nonsense_Mutation SNP C C A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 12 121018957 121018957 C A SNP POP5 ENST00000357500 human ensembl 69_37n -1 known nonsense c.124 p.G42* 1.000 pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5 pfam_RNase_P/MRP_subunit,pirsf_RNase_P/MRP_POP5 - no_errors POP5 HGNC ENSG00000167272 49 0 0.00 41 21 33.87 - - - PRUNE2 0 genome.wustl.edu 37 9 79324439 79324439 + Missense_Mutation SNP A A T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 9 79324439 79324439 A T SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.1674 p.D558E 0.276 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 226 0 0.00 73 184 71.60 - - - PRUNE2 0 genome.wustl.edu 37 9 79324439 79324439 + Missense_Mutation SNP A A T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 9 79324439 79324439 A T SNP PRUNE2 ENST00000428286 human ensembl 69_37n -1 known missense c.1674 p.D558E 0.276 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 382 0 0.00 73 184 71.60 - - - RHOXF2 0 genome.wustl.edu 37 X 119293081 119293081 + Silent SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 X 119293081 119293081 C T SNP RHOXF2 ENST00000371388 human ensembl 69_37n +1 known silent c.240 p.G80 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors RHOXF2 HGNC ENSG00000131721 80 0 0.00 63 11 14.67 - - - RHOXF2 0 genome.wustl.edu 37 X 119293081 119293081 + Silent SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc X 119293081 119293081 C T SNP RHOXF2 ENST00000371388 human ensembl 69_37n +1 known silent c.240 p.G80 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors RHOXF2 HGNC ENSG00000131721 99 0 0.00 63 11 14.67 - - - RSC1A1 0 genome.wustl.edu 37 1 15987818 15987818 + Silent SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 1 15987818 15987818 C T SNP RSC1A1 ENST00000345034 human ensembl 69_37n +1 known silent c.1455 p.H485 0.009 NULL superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors RSC1A1 HGNC ENSG00000215695 119 0 0.00 120 14 10.45 - - - RSC1A1 0 genome.wustl.edu 37 1 15987818 15987818 + Silent SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 1 15987818 15987818 C T SNP RSC1A1 ENST00000345034 human ensembl 69_37n +1 known silent c.1455 p.H485 0.009 NULL superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors RSC1A1 HGNC ENSG00000215695 139 0 0.00 120 14 10.45 - - - SDPR 0 genome.wustl.edu 37 2 192700907 192700907 + Silent SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 2 192700907 192700907 C T SNP SDPR ENST00000304141 human ensembl 69_37n -1 known silent c.1020 p.A340 0.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 223 0 0.00 164 78 32.23 - - - SDPR 0 genome.wustl.edu 37 2 192700907 192700907 + Silent SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 2 192700907 192700907 C T SNP SDPR ENST00000304141 human ensembl 69_37n -1 known silent c.1020 p.A340 0.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 167 0 0.00 164 78 32.23 - - - SMARCA4 0 genome.wustl.edu 37 19 11144187 11144188 + Frame_Shift_Del DEL GG GG - TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 19 11144187 11144188 GG - DEL SMARCA4 ENST00000358026 human ensembl 69_37n +1 known frame_shift_del c.3768_3769 p.D1257fs 1.000:1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 45 0 0.00 35 45 56.25 - - - SMARCA4 0 genome.wustl.edu 37 19 11144187 11144188 + Frame_Shift_Del DEL GG GG - TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 19 11144187 11144188 GG - DEL SMARCA4 ENST00000358026 human ensembl 69_37n +1 known frame_shift_del c.3768_3769 p.D1257fs 1.000:1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 20 0 0.00 35 45 56.25 - - - SMARCA4 0 genome.wustl.edu 37 19 11144189 11144190 + Frame_Shift_Ins INS - - C TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 19 11144189 11144190 - C INS SMARCA4 ENST00000358026 human ensembl 69_37n +1 known frame_shift_ins c.3770_3771 p.E1258fs 1.000:0.906 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 44 0 0.00 37 45 54.88 - - - SMARCA4 0 genome.wustl.edu 37 19 11144189 11144190 + Frame_Shift_Ins INS - - C TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 19 11144189 11144190 - C INS SMARCA4 ENST00000358026 human ensembl 69_37n +1 known frame_shift_ins c.3770_3771 p.E1258fs 1.000:0.906 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 22 0 0.00 37 45 54.88 - - - SMO 0 genome.wustl.edu 37 7 128852230 128852230 + Missense_Mutation SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 7 128852230 128852230 C T SNP SMO ENST00000249373 human ensembl 69_37n +1 known missense c.2302 p.P768S 0.996 NULL pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 58 0 0.00 71 18 20.00 - - - SMO 0 genome.wustl.edu 37 7 128852230 128852230 + Missense_Mutation SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 7 128852230 128852230 C T SNP SMO ENST00000249373 human ensembl 69_37n +1 known missense c.2302 p.P768S 0.996 NULL pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 49 0 0.00 71 18 20.00 - - - SPEN 0 genome.wustl.edu 37 1 16265833 16265834 + Frame_Shift_Del DEL GA GA - TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 1 16265833 16265834 GA - DEL SPEN ENST00000375759 human ensembl 69_37n +1 known frame_shift_del c.10906_10907 p.H3638fs 0.999:1.000 superfamily_SPOC-like,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 136 0 0.00 75 13 14.77 - - - SPEN 0 genome.wustl.edu 37 1 16265833 16265834 + Frame_Shift_Del DEL GA GA - TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 1 16265833 16265834 GA - DEL SPEN ENST00000375759 human ensembl 69_37n +1 known frame_shift_del c.10906_10907 p.H3638fs 0.999:1.000 superfamily_SPOC-like,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 160 0 0.00 75 13 14.77 - - - SRGAP1 0 genome.wustl.edu 37 12 64474111 64474111 + Missense_Mutation SNP C C A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 12 64474111 64474111 C A SNP SRGAP1 ENST00000355086 human ensembl 69_37n +1 known missense c.1369 p.Q457K 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 105 0 0.00 102 69 40.35 - - - SRGAP1 0 genome.wustl.edu 37 12 64474111 64474111 + Missense_Mutation SNP C C A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 12 64474111 64474111 C A SNP SRGAP1 ENST00000355086 human ensembl 69_37n +1 known missense c.1369 p.Q457K 1.000 NULL pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 161 0 0.00 102 69 40.35 - - - ST14 0 genome.wustl.edu 37 11 130078396 130078396 + Missense_Mutation SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 11 130078396 130078396 C T SNP ST14 ENST00000278742 human ensembl 69_37n +1 known missense c.2086 p.R696C 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_CUB,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ST14 HGNC ENSG00000149418 32 0 0.00 24 5 17.24 - - - ST14 0 genome.wustl.edu 37 11 130078396 130078396 + Missense_Mutation SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 11 130078396 130078396 C T SNP ST14 ENST00000278742 human ensembl 69_37n +1 known missense c.2086 p.R696C 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_CUB,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_matripase,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ST14 HGNC ENSG00000149418 32 0 0.00 24 5 17.24 - - - STAT2 0 genome.wustl.edu 37 12 56750353 56750353 + Missense_Mutation SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 12 56750353 56750353 C T SNP STAT2 ENST00000314128 human ensembl 69_37n -1 known missense c.3 p.M1I 1.000 superfamily_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 130 0 0.00 192 32 14.29 - - - STAT2 0 genome.wustl.edu 37 12 56750353 56750353 + Missense_Mutation SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 12 56750353 56750353 C T SNP STAT2 ENST00000314128 human ensembl 69_37n -1 known missense c.3 p.M1I 1.000 superfamily_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 132 0 0.00 192 32 14.29 - - - STAT5B 0 genome.wustl.edu 37 17 40371806 40371806 + Missense_Mutation SNP G G A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 17 40371806 40371806 G A SNP STAT5B ENST00000293328 human ensembl 69_37n -1 known missense c.605 p.T202M 1.000 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil 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,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 27 0 0.00 17 15 46.88 - - - STAT5B 0 genome.wustl.edu 37 17 40371806 40371806 + Missense_Mutation SNP G G A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 17 40371806 40371806 G A SNP STAT5B ENST00000293328 human ensembl 69_37n -1 known missense c.605 p.T202M 1.000 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil 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,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 26 0 0.00 17 15 46.88 - - - STAT6 0 genome.wustl.edu 37 12 57499326 57499326 + Missense_Mutation SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 12 57499326 57499326 C T SNP STAT6 ENST00000300134 human ensembl 69_37n -1 known missense c.737 p.G246D 0.993 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil 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,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 26 0 0.00 51 8 13.56 - - - STAT6 0 genome.wustl.edu 37 12 57499326 57499326 + Missense_Mutation SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 12 57499326 57499326 C T SNP STAT6 ENST00000300134 human ensembl 69_37n -1 known missense c.737 p.G246D 0.993 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil 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,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 33 0 0.00 51 8 13.56 - - - SYNE1 0 genome.wustl.edu 37 6 152652194 152652194 + Silent SNP G G A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 6 152652194 152652194 G A SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known silent c.13626 p.V4542 0.970 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 308 0 0.00 362 46 11.25 - - - SYNE1 0 genome.wustl.edu 37 6 152652194 152652194 + Silent SNP G G A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 6 152652194 152652194 G A SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known silent c.13626 p.V4542 0.970 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 314 0 0.00 362 46 11.25 - - - USH2A 0 genome.wustl.edu 37 1 215955505 215955505 + Missense_Mutation SNP C C A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 1 215955505 215955505 C A SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.10619 p.G3540V 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 118 0 0.00 145 111 43.36 - - - USH2A 0 genome.wustl.edu 37 1 215955505 215955505 + Missense_Mutation SNP C C A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 1 215955505 215955505 C A SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.10619 p.G3540V 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 191 0 0.00 145 111 43.36 - - - ZFP112 0 genome.wustl.edu 37 19 44834085 44834085 + Silent SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 19 44834085 44834085 C T SNP ZFP112 ENST00000536500 human ensembl 69_37n -1 known silent c.294 p.R98 0.875 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 ZFP112 HGNC ENSG00000062370 42 0 0.00 59 45 43.27 - - - ZFP112 0 genome.wustl.edu 37 19 44834085 44834085 + Silent SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 19 44834085 44834085 C T SNP ZFP112 ENST00000536500 human ensembl 69_37n -1 known silent c.294 p.R98 0.875 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 ZFP112 HGNC ENSG00000062370 82 0 0.00 59 45 43.27 - - - ZNF527 0 genome.wustl.edu 37 19 37879753 37879753 + Missense_Mutation SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 19 37879753 37879753 C T SNP ZNF527 ENST00000436120 human ensembl 69_37n +1 known missense c.802 p.H268Y 0.948 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 ZNF527 HGNC ENSG00000189164 397 0 0.00 398 260 39.51 - - - ZNF527 0 genome.wustl.edu 37 19 37879753 37879753 + Missense_Mutation SNP C C T TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 19 37879753 37879753 C T SNP ZNF527 ENST00000436120 human ensembl 69_37n +1 known missense c.802 p.H268Y 0.948 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 ZNF527 HGNC ENSG00000189164 390 1 0.26 398 260 39.51 - - - ZNF672 0 genome.wustl.edu 37 1 249141669 249141669 + Missense_Mutation SNP G G A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 362512ab-407f-47d5-9d9a-dd29647fd176 1 249141669 249141669 G A SNP ZNF672 ENST00000306562 human ensembl 69_37n +1 known missense c.196 p.G66S 0.662 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ENSG00000171161 11 0 0.00 17 11 39.29 - - - ZNF672 0 genome.wustl.edu 37 1 249141669 249141669 + Missense_Mutation SNP G G A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 29798513-2bb1-49f8-8cf3-c903d72072c3 371bff18-75e9-459a-9cf6-417ced089cfc 1 249141669 249141669 G A SNP ZNF672 ENST00000306562 human ensembl 69_37n +1 known missense c.196 p.G66S 0.662 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF672 HGNC ENSG00000171161 10 0 0.00 17 11 39.29 - - -