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 ARAP2 0 genome.wustl.edu 37 4 36212227 36212227 + Missense_Mutation SNP A A T TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 4 36212227 36212227 A T SNP ARAP2 ENST00000303965 human ensembl 69_37n -1 known missense c.1272 p.S424R 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 373 0 0.00 471 99 17.34 - - - ATP6V0A4 0 genome.wustl.edu 37 7 138394499 138394499 + Missense_Mutation SNP G G C TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 7 138394499 138394499 G C SNP ATP6V0A4 ENST00000310018 human ensembl 69_37n -1 known missense c.2299 p.L767V 1.000 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_errors ATP6V0A4 HGNC ENSG00000105929 245 0 0.00 345 87 20.09 - - - ATXN3L 0 genome.wustl.edu 37 X 13337012 13337012 + Missense_Mutation SNP T T A TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a X 13337012 13337012 T A SNP ATXN3L ENST00000380622 human ensembl 69_37n -1 known missense c.1042 p.N348Y 0.006 NULL pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3L HGNC ENSG00000123594 366 0 0.00 425 98 18.74 - - - B3GAT2 0 genome.wustl.edu 37 6 71603840 71603840 + Missense_Mutation SNP C C T TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 6 71603840 71603840 C T SNP B3GAT2 ENST00000230053 human ensembl 69_37n -1 known missense c.727 p.D243N 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT2 HGNC ENSG00000112309 142 0 0.00 123 28 18.54 - - - BCL7C 0 genome.wustl.edu 37 16 30899222 30899223 + Frame_Shift_Ins INS - - G TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 16 30899222 30899223 - G INS BCL7C ENST00000215115 human ensembl 69_37n -1 known frame_shift_ins c.618_617 p.L207fs 1.000:1.000 NULL pfam_BCL7 - no_errors BCL7C HGNC ENSG00000099385 28 0 0.00 43 7 14.00 - - - CFH 0 genome.wustl.edu 37 1 196684769 196684769 + Missense_Mutation SNP C C A TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 1 196684769 196684769 C A SNP CFH ENST00000367429 human ensembl 69_37n +1 known missense c.1566 p.D522E 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 193 0 0.00 314 64 16.89 - - - CRHR1 0 genome.wustl.edu 37 17 43911164 43911165 + Frame_Shift_Ins INS - - T TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 17 43911164 43911165 - T INS CRHR1 ENST00000398285 human ensembl 69_37n +1 known frame_shift_ins c.1101_1102 p.V367fs 1.000:1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 29 0 0.00 13 27 67.50 - - - CRHR1 0 genome.wustl.edu 37 17 43911167 43911168 + Frame_Shift_Ins INS - - A TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 17 43911167 43911168 - A INS CRHR1 ENST00000398285 human ensembl 69_37n +1 known frame_shift_ins c.1104_1105 p.S368fs 1.000:1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 31 0 0.00 15 27 64.29 - - - CXADR 0 genome.wustl.edu 37 21 18931412 18931412 + Silent SNP G G A TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 21 18931412 18931412 G A SNP CXADR ENST00000284878 human ensembl 69_37n +1 known silent c.534 p.L178 0.762 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CXADR HGNC ENSG00000154639 279 0 0.00 272 61 18.32 - - - CXorf58 0 genome.wustl.edu 37 X 23934438 23934438 + Nonsense_Mutation SNP C C A TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a X 23934438 23934438 C A SNP CXorf58 ENST00000379211 human ensembl 69_37n +1 known nonsense c.416 p.S139* 0.803 NULL NULL - no_errors CXorf58 HGNC ENSG00000165182 71 0 0.00 76 26 25.49 - - - DDX28 0 genome.wustl.edu 37 16 68055678 68055679 + Frame_Shift_Ins INS - - G TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 16 68055678 68055679 - G INS DDX28 ENST00000332395 human ensembl 69_37n -1 known frame_shift_ins c.1428_1427 p.T477fs 0.173:0.181 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX28 HGNC ENSG00000182810 62 0 0.00 23 5 17.86 - - - DNTT 0 genome.wustl.edu 37 10 98064304 98064304 + Missense_Mutation SNP G G A TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 10 98064304 98064304 G A SNP DNTT ENST00000371174 human ensembl 69_37n +1 known missense c.50 p.R17Q 0.144 pirsf_DNA_nucleotidylexotransferase pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors DNTT HGNC ENSG00000107447 93 0 0.00 91 29 24.17 - - - DPY19L2P2 0 genome.wustl.edu 37 7 102875162 102875162 + RNA SNP T T C TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 7 102875162 102875162 T C SNP DPY19L2P2 ENST00000312132 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 19 0 0.00 22 6 21.43 - - - EIF3B 0 genome.wustl.edu 37 7 2409146 2409146 + Silent SNP C C T TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 7 2409146 2409146 C T SNP EIF3B ENST00000360876 human ensembl 69_37n +1 known silent c.1443 p.F481 0.993 pirsf_eIF3b pfam_TIF2A_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3b,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 165 0 0.00 354 137 27.79 - - - EXOC3 0 genome.wustl.edu 37 5 457086 457087 + In_Frame_Ins INS - - AGG TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 5 457086 457087 - AGG INS EXOC3 ENST00000315013 human ensembl 69_37n +1 known in_frame_ins c.1129_1130 p.SELL377in_frame_ins* 1.000:1.000 pfam_Sec6 pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 14 0 0.00 19 12 38.71 - - - FAM47C 0 genome.wustl.edu 37 X 37027582 37027582 + Missense_Mutation SNP C C T TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a X 37027582 37027582 C T SNP FAM47C ENST00000358047 human ensembl 69_37n +1 known missense c.1099 p.R367C 0.002 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 237 0 0.00 233 60 20.48 - - - FGF7 0 genome.wustl.edu 37 15 49716681 49716681 + Missense_Mutation SNP G G C TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 15 49716681 49716681 G C SNP FGF7 ENST00000267843 human ensembl 69_37n +1 known missense c.187 p.D63H 1.000 superfamily_Cytokine_IL1-like,smart_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF7 HGNC ENSG00000140285 272 0 0.00 293 74 20.16 - - - GALNT6 0 genome.wustl.edu 37 12 51758021 51758021 + Silent SNP G G A TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 12 51758021 51758021 G A SNP GALNT6 ENST00000356317 human ensembl 69_37n -1 known silent c.933 p.P311 0.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT6 HGNC ENSG00000139629 102 0 0.00 49 33 40.24 - - - GANC 0 genome.wustl.edu 37 15 42602936 42602936 + Missense_Mutation SNP A A G TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 15 42602936 42602936 A G SNP GANC ENST00000318010 human ensembl 69_37n +1 known missense c.949 p.R317G 0.073 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANC HGNC ENSG00000214013 321 1 0.31 352 81 18.71 - - - KBTBD4 0 genome.wustl.edu 37 11 47599398 47599398 + Missense_Mutation SNP C C T TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 11 47599398 47599398 C T SNP KBTBD4 ENST00000430070 human ensembl 69_37n -1 known missense c.202 p.E68K 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 43 0 0.00 41 301 75.44 - - - KLF4 0 genome.wustl.edu 37 9 110249348 110249348 + Missense_Mutation SNP T T G TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 9 110249348 110249348 T G SNP KLF4 ENST00000374672 human ensembl 69_37n -1 known missense c.1225 p.K409Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF4 HGNC ENSG00000136826 70 0 0.00 11 6 35.29 - - - LYVE1 0 genome.wustl.edu 37 11 10590003 10590003 + Missense_Mutation SNP C C T TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 11 10590003 10590003 C T SNP LYVE1 ENST00000256178 human ensembl 69_37n -1 known missense c.77 p.R26H 0.000 NULL pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link - no_errors LYVE1 HGNC ENSG00000133800 83 0 0.00 77 19 19.79 - - - MADD 0 genome.wustl.edu 37 11 47304060 47304060 + Missense_Mutation SNP C C T TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 11 47304060 47304060 C T SNP MADD ENST00000311027 human ensembl 69_37n +1 known missense c.1598 p.P533L 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 97 0 0.00 187 39 17.26 - - - MAU2 0 genome.wustl.edu 37 19 19454747 19454748 + Frame_Shift_Ins INS - - CC TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 19 19454747 19454748 - CC INS MAU2 ENST00000262815 human ensembl 69_37n +1 known frame_shift_ins c.1075_1076 p.E359fs 1.000:1.000 pfam_Cohesin_loading_factor pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 19 0 0.00 10 3 23.08 - - - MICALL1 0 genome.wustl.edu 37 22 38327919 38327919 + Frame_Shift_Del DEL C C - TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 22 38327919 38327919 C - DEL MICALL1 ENST00000215957 human ensembl 69_37n +1 known frame_shift_del c.1995 p.P667fs 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 37 0 0.00 24 66 68.04 - - - MICALL1 0 genome.wustl.edu 37 22 38327923 38327924 + Frame_Shift_Del DEL CC CC - TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 22 38327923 38327924 CC - DEL MICALL1 ENST00000215957 human ensembl 69_37n +1 known frame_shift_del c.1999_2000 p.P667fs 1.000:1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 34 0 0.00 23 66 74.16 - - - MRPL43 0 genome.wustl.edu 37 10 102746498 102746499 + Frame_Shift_Ins INS - - C TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 10 102746498 102746499 - C INS MRPL43 ENST00000318364 human ensembl 69_37n -1 known frame_shift_ins c.473_472 p.A158fs 0.000:0.000 NULL pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH - no_errors MRPL43 HGNC ENSG00000055950 21 0 0.00 5 3 37.50 - - - MYO5B 0 genome.wustl.edu 37 18 47431047 47431047 + Missense_Mutation SNP G G A TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 18 47431047 47431047 G A SNP MYO5B ENST00000285039 human ensembl 69_37n -1 known missense c.2566 p.R856C 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 34 0 0.00 27 9 25.00 - - - OR13A1 0 genome.wustl.edu 37 10 45799219 45799219 + Frame_Shift_Del DEL C C - TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 10 45799219 45799219 C - DEL OR13A1 ENST00000374401 human ensembl 69_37n -1 known frame_shift_del c.652 p.V218fs 0.005 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 OR13A1 HGNC ENSG00000256574 133 0 0.00 100 94 47.96 - - - OR52M1 0 genome.wustl.edu 37 11 4567110 4567110 + Silent SNP G G T TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 11 4567110 4567110 G T SNP OR52M1 ENST00000360213 human ensembl 69_37n +1 known silent c.690 p.G230 0.005 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR52M1 HGNC ENSG00000197790 516 2 0.39 531 97 15.45 - - - PAPOLB 0 genome.wustl.edu 37 7 4900572 4900572 + Silent SNP C C T TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 7 4900572 4900572 C T SNP PAPOLB ENST00000404991 human ensembl 69_37n -1 known silent c.867 p.E289 1.000 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 315 0 0.00 108 23 17.56 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 185 1 0.54 310 82 20.87 - - - SEMA3B 0 genome.wustl.edu 37 3 50311832 50311832 + RNA DEL G G - TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 3 50311832 50311832 G - DEL SEMA3B ENST00000316347 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SEMA3B HGNC ENSG00000012171 69 0 0.00 13 2 13.33 - - - WNK1 0 genome.wustl.edu 37 12 970284 970284 + Missense_Mutation SNP C C T TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a 12 970284 970284 C T SNP WNK1 ENST00000530271 human ensembl 69_37n +1 known missense c.1726 p.R576W 0.957 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ENSG00000060237 402 1 0.24 430 96 18.01 - - - ZCCHC16 0 genome.wustl.edu 37 X 111698592 111698592 + Nonsense_Mutation SNP C C A TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 351275c7-70ca-4ddc-be76-a6ff4dc7655e b7b01df0-5282-4fbd-89f4-d52e050d047a X 111698592 111698592 C A SNP ZCCHC16 ENST00000340433 human ensembl 69_37n +1 known nonsense c.636 p.C212* 0.999 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC16 HGNC ENSG00000187823 873 0 0.00 808 189 18.96 - - -