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 ACSF2 0 genome.wustl.edu 37 17 48551936 48551936 + RNA SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 17 48551936 48551936 G A SNP ACSF2 ENST00000506085 human ensembl 69_37n +1 known rna NULL NULL 0.012 - - - no_errors ACSF2 HGNC ENSG00000167107 146 0 0.00 28 16 36.36 - - - AKAP12 0 genome.wustl.edu 37 6 151674316 151674316 + Frame_Shift_Del DEL A A - TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 6 151674316 151674316 A - DEL AKAP12 ENST00000253332 human ensembl 69_37n +1 known frame_shift_del c.4790 p.G1598fs 0.001 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 133 0 0.00 13 2 13.33 - - - AMOTL1 0 genome.wustl.edu 37 11 94532696 94532696 + Missense_Mutation SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 11 94532696 94532696 G A SNP AMOTL1 ENST00000433060 human ensembl 69_37n +1 known missense c.340 p.E114K 0.999 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 97 0 0.00 26 5 16.13 - - - ANKRD20A5P 0 genome.wustl.edu 37 18 14179217 14179217 + RNA DEL A A - TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 18 14179217 14179217 A - DEL ANKRD20A5P ENST00000581181 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 19 0 0.00 0 2 40.00 - - - ARHGEF19 0 genome.wustl.edu 37 1 16532853 16532853 + Missense_Mutation SNP C C T TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 1 16532853 16532853 C T SNP ARHGEF19 ENST00000441785 human ensembl 69_37n -1 known missense c.169 p.V57M 0.000 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,pfscan_DH-domain - no_start_codon ARHGEF19 HGNC ENSG00000142632 52 0 0.00 45 15 24.59 - - - C17orf49 0 genome.wustl.edu 37 17 6920583 6920583 + Silent SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 17 6920583 6920583 G A SNP C17orf49 ENST00000546495 human ensembl 69_37n +1 known silent c.522 p.L174 1.000 NULL superfamily_Homeodomain-like - no_errors C17orf49 Clone_based_vega_gene ENSG00000258315 385 0 0.00 19 3 13.64 - - - C19orf42 0 genome.wustl.edu 37 19 16770904 16770904 + Silent SNP C C T TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 19 16770904 16770904 C T SNP C19orf42 ENST00000487803 human ensembl 69_37n -1 known silent c.18 p.L6 1.000 NULL NULL - no_errors C19orf42 HGNC ENSG00000214046 43 0 0.00 28 4 12.50 - - - C1orf54 0 genome.wustl.edu 37 1 150248171 150248171 + Missense_Mutation SNP C C T TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 1 150248171 150248171 C T SNP C1orf54 ENST00000369099 human ensembl 69_37n +1 known missense c.152 p.T51I 1.000 NULL NULL - no_errors C1orf54 HGNC ENSG00000118292 376 0 0.00 85 11 11.46 - - - CDS1 0 genome.wustl.edu 37 4 85530598 85530598 + Missense_Mutation SNP A A G TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 4 85530598 85530598 A G SNP CDS1 ENST00000295887 human ensembl 69_37n +1 known missense c.262 p.I88V 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 619 0 0.00 45 16 26.23 - - - CHST3 0 genome.wustl.edu 37 10 73767932 73767932 + Silent SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 10 73767932 73767932 G A SNP CHST3 ENST00000373115 human ensembl 69_37n +1 known silent c.1143 p.K381 1.000 pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 9 0 0.00 25 6 19.35 - - - COTL1 0 genome.wustl.edu 37 16 84600388 84600388 + RNA SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 16 84600388 84600388 G A SNP COTL1 ENST00000567278 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors COTL1 HGNC ENSG00000103187 74 0 0.00 47 15 24.19 - - - CRIPAK 0 genome.wustl.edu 37 4 1388635 1388635 + Silent SNP T T C TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 4 1388635 1388635 T C SNP CRIPAK ENST00000324803 human ensembl 69_37n +1 known silent c.336 p.C112 0.008 smart_Post-SET_dom smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 99 1 1.00 127 32 20.13 - - - CTH 0 genome.wustl.edu 37 1 70904845 70904845 + RNA DEL G G - TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 1 70904845 70904845 G - DEL CTH ENST00000482383 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors CTH HGNC ENSG00000116761 213 0 0.00 16 2 11.11 - - - CYB5A 0 genome.wustl.edu 37 18 71930670 71930670 + Missense_Mutation SNP C C T TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 18 71930670 71930670 C T SNP CYB5A ENST00000340533 human ensembl 69_37n -1 known missense c.172 p.D58N 1.000 pfam_Cyt_B5,superfamily_Cyt_B5,prints_Cyt_B5,pfscan_Cyt_B5 pfam_Cyt_B5,superfamily_Cyt_B5,prints_Cyt_B5,pfscan_Cyt_B5 - no_errors CYB5A HGNC ENSG00000166347 250 0 0.00 29 4 12.12 - - - DMXL1 0 genome.wustl.edu 37 5 118465089 118465089 + Missense_Mutation SNP C C A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 5 118465089 118465089 C A SNP DMXL1 ENST00000539542 human ensembl 69_37n +1 known missense c.1286 p.S429Y 0.615 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 124 0 0.00 34 8 18.60 - - - DYNC1H1 0 genome.wustl.edu 37 14 102500367 102500367 + Nonsense_Mutation SNP G G T TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 14 102500367 102500367 G T SNP DYNC1H1 ENST00000360184 human ensembl 69_37n +1 known nonsense c.10468 p.E3490* 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 180 0 0.00 30 4 11.76 - - - EPHA6 0 genome.wustl.edu 37 3 96706581 96706581 + Missense_Mutation SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 3 96706581 96706581 G A SNP EPHA6 ENST00000506569 human ensembl 69_37n +1 putative missense c.691 p.G231S 0.977 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EPHA6 HGNC ENSG00000080224 204 0 0.00 17 9 34.62 - - - FAM157B 0 genome.wustl.edu 37 9 141107536 141107537 + RNA INS - - GCA TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 9 141107536 141107537 - GCA INS FAM157B ENST00000446912 human ensembl 69_37n +1 known rna NULL NULL 0.033:0.036 - - - no_errors FAM157B HGNC ENSG00000233013 70 0 0.00 48 19 28.36 - - - FAM157C 0 genome.wustl.edu 37 16 90168691 90168691 + RNA SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 16 90168691 90168691 G A SNP FAM157C ENST00000563357 human ensembl 69_37n +1 known rna NULL NULL 0.006 - - - no_errors FAM157C HGNC ENSG00000260528 72 0 0.00 88 14 13.73 - - - GALNT10 0 genome.wustl.edu 37 5 153789185 153789185 + Missense_Mutation SNP G G T TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 5 153789185 153789185 G T SNP GALNT10 ENST00000297107 human ensembl 69_37n +1 known missense c.1249 p.A417S 0.672 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 135 0 0.00 35 4 10.26 - - - GPR112 0 genome.wustl.edu 37 X 135430311 135430311 + Silent SNP C C A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df X 135430311 135430311 C A SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known silent c.4446 p.S1482 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 58 0 0.00 54 11 16.92 - - - IL21R 0 genome.wustl.edu 37 16 27457410 27457411 + Splice_Site DEL GT GT - TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 16 27457410 27457411 GT - DEL IL21R ENST00000337929 human ensembl 69_37n +1 known splice_site_del c.867+1_867+1 e7+1 1.000:0.992 - - - no_errors IL21R HGNC ENSG00000103522 56 0 0.00 17 2 10.53 - - - KRTAP5-2 0 genome.wustl.edu 37 11 1619181 1619181 + Silent SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 11 1619181 1619181 G A SNP KRTAP5-2 ENST00000412090 human ensembl 69_37n -1 known silent c.300 p.S100 0.053 NULL NULL - no_errors KRTAP5-2 HGNC ENSG00000205867 102 0 0.00 66 8 10.81 - - - KRTAP5-2 0 genome.wustl.edu 37 11 1619184 1619184 + Silent SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 11 1619184 1619184 G A SNP KRTAP5-2 ENST00000412090 human ensembl 69_37n -1 known silent c.297 p.G99 0.365 NULL NULL - no_errors KRTAP5-2 HGNC ENSG00000205867 90 0 0.00 58 11 15.94 - - - MGAM 0 genome.wustl.edu 37 7 141794263 141794263 + Silent SNP A A G TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 7 141794263 141794263 A G SNP MGAM ENST00000475668 human ensembl 69_37n +1 putative silent c.7275 p.T2425 0.003 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 57 0 0.00 35 5 12.50 - - - MUC3A 0 genome.wustl.edu 37 7 100552549 100552549 + Missense_Mutation SNP C C A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 7 100552549 100552549 C A SNP MUC3A ENST00000319509 human ensembl 69_37n +1 known missense c.1300 p.L434I 0.020 NULL pfam_SEA,smart_EGF-like,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_start_codon MUC3A HGNC ENSG00000169894 9 0 0.00 30 7 18.92 - - - NASP 0 genome.wustl.edu 37 1 46073222 46073222 + Frame_Shift_Del DEL A A - TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 1 46073222 46073222 A - DEL NASP ENST00000402363 human ensembl 69_37n +1 known frame_shift_del c.645 p.G217fs 0.076 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 77 0 0.00 56 8 12.50 - - - NLRP2 0 genome.wustl.edu 37 19 55501622 55501622 + Missense_Mutation SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 19 55501622 55501622 G A SNP NLRP2 ENST00000543277 human ensembl 69_37n +1 known missense c.225 p.M75I 0.000 NULL NULL - no_start_codon NLRP2 HGNC ENSG00000022556 90 0 0.00 21 6 22.22 - - - NPTX1 0 genome.wustl.edu 37 17 78447237 78447237 + Missense_Mutation SNP T T G TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 17 78447237 78447237 T G SNP NPTX1 ENST00000306773 human ensembl 69_37n -1 known missense c.660 p.K220N 0.989 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin - no_errors NPTX1 HGNC ENSG00000171246 166 0 0.00 75 9 10.71 - - - ODZ1 0 genome.wustl.edu 37 X 123554275 123554275 + Frame_Shift_Del DEL C C - TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df X 123554275 123554275 C - DEL ODZ1 ENST00000422452 human ensembl 69_37n -1 known frame_shift_del c.4868 p.G1623fs 0.993 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 95 0 0.00 38 5 11.63 - - - OR4C13 0 genome.wustl.edu 37 11 49974289 49974289 + Missense_Mutation SNP C C A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 11 49974289 49974289 C A SNP OR4C13 ENST00000555099 human ensembl 69_37n +1 known missense c.315 p.F105L 0.006 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4C13 HGNC ENSG00000258817 271 1 0.37 79 22 21.78 - - - PCDHB12 0 genome.wustl.edu 37 5 140590635 140590635 + Missense_Mutation SNP C C A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 5 140590635 140590635 C A SNP PCDHB12 ENST00000239450 human ensembl 69_37n +1 known missense c.2156 p.A719E 0.002 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 56 0 0.00 111 25 18.38 - - - PKN1 0 genome.wustl.edu 37 19 14578443 14578443 + Missense_Mutation SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 19 14578443 14578443 G A SNP PKN1 ENST00000342216 human ensembl 69_37n +1 known missense c.1816 p.A606T 0.225 NULL pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN1 HGNC ENSG00000123143 79 0 0.00 26 5 16.13 - - - PNLDC1 0 genome.wustl.edu 37 6 160225641 160225641 + Missense_Mutation SNP A A G TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 6 160225641 160225641 A G SNP PNLDC1 ENST00000275275 human ensembl 69_37n +1 known missense c.400 p.I134V 0.967 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 303 0 0.00 101 18 15.13 - - - POU5F1 0 genome.wustl.edu 37 6 31132414 31132414 + Silent SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 6 31132414 31132414 G A SNP POU5F1 ENST00000259915 human ensembl 69_37n -1 known silent c.1047 p.S349 0.565 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU5F1 HGNC ENSG00000204531 75 0 0.00 34 4 10.53 - - - RASSF1 0 genome.wustl.edu 37 3 50369009 50369009 + Silent SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 3 50369009 50369009 G A SNP RASSF1 ENST00000357043 human ensembl 69_37n -1 known silent c.753 p.R251 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF1 HGNC ENSG00000068028 58 0 0.00 20 7 25.93 - - - RBMX 0 genome.wustl.edu 37 X 135956107 135956107 + RNA SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df X 135956107 135956107 G A SNP RBMX ENST00000496459 human ensembl 69_37n -1 known rna NULL NULL 0.702 - - - no_errors RBMX HGNC ENSG00000147274 9 0 0.00 33 19 36.54 - - - RETSAT 0 genome.wustl.edu 37 2 85573033 85573033 + Silent SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 2 85573033 85573033 G A SNP RETSAT ENST00000438611 human ensembl 69_37n -1 known silent c.283 p.L95 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RETSAT HGNC ENSG00000042445 56 0 0.00 32 4 11.11 - - - RFC1 0 genome.wustl.edu 37 4 39297368 39297368 + Silent SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 4 39297368 39297368 G A SNP RFC1 ENST00000381897 human ensembl 69_37n -1 known silent c.2823 p.A941 0.996 pfam_DNA_replication_fac_RFC1_C,superfamily_DNA_pol3_clamp-load_cplx_C,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 133 0 0.00 34 4 10.53 - - - SH3KBP1 0 genome.wustl.edu 37 X 19560045 19560045 + Missense_Mutation SNP C C A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df X 19560045 19560045 C A SNP SH3KBP1 ENST00000397821 human ensembl 69_37n -1 known missense c.1890 p.Q630H 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 78 0 0.00 75 24 24.24 - - - SLC45A4 0 genome.wustl.edu 37 8 142222352 142222352 + Missense_Mutation SNP C C T TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 8 142222352 142222352 C T SNP SLC45A4 ENST00000517878 human ensembl 69_37n -1 known missense c.2245 p.V749M 0.000 NULL superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 25 0 0.00 44 8 15.38 - - - SRL 0 genome.wustl.edu 37 16 4242562 4242562 + Silent SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 16 4242562 4242562 G A SNP SRL ENST00000399609 human ensembl 69_37n -1 known silent c.1014 p.I338 1.000 NULL pfam_Dynamin_GTPase,pfam_GTP_binding_domain - no_errors SRL HGNC ENSG00000185739 190 1 0.52 101 16 13.68 - - - TBP 0 genome.wustl.edu 37 6 170871004 170871004 + Silent SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 6 170871004 170871004 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.180 p.Q60 0.991 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 44 0 0.00 41 6 12.77 - - - TBP 0 genome.wustl.edu 37 6 170871052 170871052 + Silent SNP G G A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 6 170871052 170871052 G A SNP TBP ENST00000230354 human ensembl 69_37n +1 known silent c.228 p.Q76 0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 27 0 0.00 23 20 45.45 - - - THOC5 0 genome.wustl.edu 37 22 29907214 29907214 + Frame_Shift_Del DEL G G - TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 22 29907214 29907214 G - DEL THOC5 ENST00000397871 human ensembl 69_37n -1 known frame_shift_del c.1869 p.N624fs 1.000 NULL pfam_THO_Thoc5 - no_errors THOC5 HGNC ENSG00000100296 73 0 0.00 13 2 13.33 - - - TRIM60 0 genome.wustl.edu 37 4 165962604 165962604 + Silent SNP T T C TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 4 165962604 165962604 T C SNP TRIM60 ENST00000341062 human ensembl 69_37n +1 known silent c.1380 p.P460 0.051 superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM60 HGNC ENSG00000176979 169 0 0.00 45 7 13.46 - - - TULP3 0 genome.wustl.edu 37 12 3040227 3040227 + Missense_Mutation SNP A A C TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 12 3040227 3040227 A C SNP TULP3 ENST00000228245 human ensembl 69_37n +1 known missense c.517 p.T173P 0.000 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP3 HGNC ENSG00000078246 106 1 0.93 52 10 15.87 - - - ZC3H13 0 genome.wustl.edu 37 13 46616352 46616352 + Missense_Mutation SNP C C A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 13 46616352 46616352 C A SNP ZC3H13 ENST00000242848 human ensembl 69_37n -1 known missense c.286 p.V96L 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 309 0 0.00 48 7 12.73 - - - ZNF208 0 genome.wustl.edu 37 19 22156863 22156863 + Missense_Mutation SNP C C A TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 19 22156863 22156863 C A SNP ZNF208 ENST00000397126 human ensembl 69_37n -1 known missense c.973 p.V325F 0.000 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 ZNF208 HGNC ENSG00000160321 71 0 0.00 21 5 19.23 - - - ZNF799 0 genome.wustl.edu 37 19 12501969 12501970 + Frame_Shift_Del DEL GA GA - TCGA-BH-A1ES-06A-12D-A243-09 TCGA-BH-A1ES-11A-33D-A135-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e4c67368-9525-4d6f-8015-be7960045be1 b281f983-29fc-4389-bea2-cabf4c90b3df 19 12501969 12501970 GA - DEL ZNF799 ENST00000430385 human ensembl 69_37n -1 known frame_shift_del c.1243_1242 p.T416fs 0.990:0.062 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 ZNF799 HGNC ENSG00000196466 233 0 0.00 64 8 11.11 - - -