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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ADAM21 8747 genome.wustl.edu 37 14 70924602 70924602 + Missense_Mutation SNP T T G TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 14 70924602 70924602 T G SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known missense c.386 p.F129C 0.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC AKR1C2 1646 genome.wustl.edu 37 10 5041580 5041580 + RNA SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 10 5041580 5041580 C T SNP AKR1C2 ENST00000460124 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AKR1C2 HGNC ANKRD12 23253 genome.wustl.edu 37 18 9256897 9256897 + Missense_Mutation SNP G G T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 18 9256897 9256897 G T SNP ANKRD12 ENST00000262126 human ensembl 70_37 +1 known missense c.3632 p.S1211I 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ANO2 57101 genome.wustl.edu 37 12 5685041 5685041 + Silent SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 12 5685041 5685041 C T SNP ANO2 ENST00000356134 human ensembl 70_37 -1 known silent c.2583 p.Q861 0.090 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ATXN1 6310 genome.wustl.edu 37 6 16327014 16327014 + Missense_Mutation SNP T T C TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 6 16327014 16327014 T C SNP ATXN1 ENST00000244769 human ensembl 70_37 -1 known missense c.1528 p.T510A 0.966 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC BIRC2 329 genome.wustl.edu 37 11 102220740 102220740 + Missense_Mutation SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 11 102220740 102220740 C T SNP BIRC2 ENST00000227758 human ensembl 70_37 +1 known missense c.155 p.T52I 1.000 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC BRIX1 55299 genome.wustl.edu 37 5 34919960 34919960 + Missense_Mutation SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 5 34919960 34919960 G A SNP BRIX1 ENST00000336767 human ensembl 70_37 +1 known missense c.287 p.R96H 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors BRIX1 HGNC CARS 833 genome.wustl.edu 37 11 3038339 3038339 + Silent SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 11 3038339 3038339 C T SNP CARS ENST00000380525 human ensembl 70_37 -1 known silent c.1914 p.L638 0.973 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC CCDC40 55036 genome.wustl.edu 37 17 78064063 78064064 + Frame_Shift_Ins INS - - A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 17 78064063 78064064 - A INS CCDC40 ENST00000374877 human ensembl 70_37 +1 known frame_shift_ins c.2958_2959 p.G986fs 0.005:0.005 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC CCDC40 55036 genome.wustl.edu 37 17 78064065 78064066 + In_Frame_Ins INS - - CAC TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 17 78064065 78064066 - CAC INS CCDC40 ENST00000374877 human ensembl 70_37 +1 known in_frame_ins c.2960_2961 p.988in_frame_insT 0.007:0.009 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC CMAHP 8418 genome.wustl.edu 37 6 25109773 25109773 + Missense_Mutation SNP C C A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 6 25109773 25109773 C A SNP CMAHP ENST00000377989 human ensembl 70_37 -1 known missense c.478 p.G160C 1.000 NULL NULL - no_errors CMAHP HGNC CMBL 134147 genome.wustl.edu 37 5 10286563 10286563 + Silent SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 5 10286563 10286563 G A SNP CMBL ENST00000296658 human ensembl 70_37 -1 known silent c.369 p.A123 0.935 pfam_Dienelactn_hydro,pfam_PLipase/COase/thioEstase pfam_Dienelactn_hydro,pfam_PLipase/COase/thioEstase - no_errors CMBL HGNC CNTN2 6900 genome.wustl.edu 37 1 205033553 205033553 + Silent SNP C C G TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 1 205033553 205033553 C G SNP CNTN2 ENST00000331830 human ensembl 70_37 +1 known silent c.1344 p.A448 0.008 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN2 HGNC DIAPH1 1729 genome.wustl.edu 37 5 140953564 140953566 + In_Frame_Del DEL GGA GGA - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 5 140953564 140953566 GGA - DEL DIAPH1 ENST00000253811 human ensembl 70_37 -1 known in_frame_del c.1853_1851 p.P620in_frame_del 0.010:0.008:0.007 pfam_Formin_homology_1 pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH1 HGNC EME2 197342 genome.wustl.edu 37 16 1825175 1825175 + Missense_Mutation SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 16 1825175 1825175 G A SNP EME2 ENST00000307394 human ensembl 70_37 +1 known missense c.611 p.R204Q 0.000 pfam_ERCC4_domain,smart_ERCC4_domain pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME2 HGNC ENSG00000210127 0 genome.wustl.edu 37 MT 5610 5610 + RNA SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e MT 5610 5610 G A SNP ENSG00000210127 ENST00000387392 human ensembl 70_37 -1 novel rna NULL NULL NULL - - - no_errors J01415.8 Clone_based_ensembl_gene ENSG00000221672 0 genome.wustl.edu 37 22 47243816 47243819 + RNA DEL GTGT GTGT - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 22 47243816 47243819 GTGT - DEL ENSG00000221672 ENST00000408745 human ensembl 70_37 +1 novel rna NULL NULL 0.000:0.000:0.001:0.000 - - - no_errors Z97351.1 Clone_based_ensembl_gene ENSG00000261759 0 genome.wustl.edu 37 16 19132370 19132370 + RNA DEL T T - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 16 19132370 19132370 T - DEL ENSG00000261759 ENST00000567236 human ensembl 70_37 -1 known rna NULL NULL 0.985 - - - no_errors RP11-626G11.3 Clone_based_vega_gene FAM194A 131831 genome.wustl.edu 37 3 150421460 150421460 + Missense_Mutation SNP C C G TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 3 150421460 150421460 C G SNP FAM194A ENST00000295910 human ensembl 70_37 -1 known missense c.226 p.E76Q 0.003 NULL NULL - no_errors FAM194A HGNC FCGBP 8857 genome.wustl.edu 37 19 40382747 40382747 + Missense_Mutation SNP A A G TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 19 40382747 40382747 A G SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.10139 p.V3380A 0.952 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FLJ22184 80164 genome.wustl.edu 37 19 7937597 7937597 + Missense_Mutation SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 19 7937597 7937597 C T SNP FLJ22184 ENST00000539422 human ensembl 70_37 -1 known missense c.533 p.R178H 0.958 NULL NULL - no_errors FLJ22184 Uniprot_genename FLJ36000 284124 genome.wustl.edu 37 17 21910820 21910820 + RNA SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 17 21910820 21910820 G A SNP FLJ36000 ENST00000581223 human ensembl 70_37 +1 known rna NULL NULL 0.016 - - - no_errors RP11-744K17.9 Clone_based_vega_gene HDX 139324 genome.wustl.edu 37 X 83724357 83724360 + Frame_Shift_Del DEL TGTT TGTT - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 TGTT TGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e X 83724357 83724360 TGTT - DEL HDX ENST00000297977 human ensembl 70_37 -1 known frame_shift_del c.374_371 p.K124fs 0.372:0.362:0.325:0.948 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HDX HGNC KCNK2 3776 genome.wustl.edu 37 1 215259781 215259781 + Silent SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 1 215259781 215259781 G A SNP KCNK2 ENST00000444842 human ensembl 70_37 +1 known silent c.117 p.T39 0.984 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC KIF1A 547 genome.wustl.edu 37 2 241696841 241696843 + In_Frame_Del DEL TCC TCC - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 2 241696841 241696843 TCC - DEL KIF1A ENST00000498729 human ensembl 70_37 -1 known in_frame_del c.2753_2751 p.E917in_frame_del 1.000:1.000:1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC KRTAP5-9 3846 genome.wustl.edu 37 11 71259966 71259966 + Missense_Mutation SNP G G T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 11 71259966 71259966 G T SNP KRTAP5-9 ENST00000528743 human ensembl 70_37 +1 known missense c.263 p.C88F 0.862 NULL NULL - no_errors KRTAP5-9 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 12962 12962 + Missense_Mutation SNP G G T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e MT 12962 12962 G T SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.626 p.S209I NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MUC20 200958 genome.wustl.edu 37 3 195453332 195453332 + Missense_Mutation SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 3 195453332 195453332 G A SNP MUC20 ENST00000447234 human ensembl 70_37 +1 known missense c.1858 p.G620R 0.004 NULL NULL - no_errors MUC20 HGNC MYH4 4622 genome.wustl.edu 37 17 10357006 10357006 + Missense_Mutation SNP A A G TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 17 10357006 10357006 A G SNP MYH4 ENST00000255381 human ensembl 70_37 -1 known missense c.2888 p.L963P 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC MYH9 4627 genome.wustl.edu 37 22 36685206 36685206 + Silent SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 22 36685206 36685206 C T SNP MYH9 ENST00000216181 human ensembl 70_37 -1 known silent c.4482 p.E1494 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC NME6 10201 genome.wustl.edu 37 3 48337645 48337645 + Missense_Mutation SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 3 48337645 48337645 C T SNP NME6 ENST00000421967 human ensembl 70_37 -1 known missense c.221 p.R74H 0.996 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME6 HGNC NOP56 10528 genome.wustl.edu 37 20 2635849 2635849 + RNA SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 20 2635849 2635849 G A SNP NOP56 ENST00000484998 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors NOP56 HGNC PDK3 5165 genome.wustl.edu 37 X 24517162 24517162 + RNA DEL T T - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e X 24517162 24517162 T - DEL PDK3 ENST00000493226 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors PDK3 HGNC PLCB4 5332 genome.wustl.edu 37 20 9460165 9460165 + RNA SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 20 9460165 9460165 C T SNP PLCB4 ENST00000464199 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PLCB4 HGNC PLCH1 23007 genome.wustl.edu 37 3 155093577 155093578 + Frame_Shift_Ins INS - - TC TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 3 155093577 155093578 - TC INS PLCH1 ENST00000494598 human ensembl 70_37 -1 known frame_shift_ins c.2940_2939 p.D980fs 0.001:0.001 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PPP1R1C 151242 genome.wustl.edu 37 2 182928496 182928496 + Silent SNP G G C TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 2 182928496 182928496 G C SNP PPP1R1C ENST00000409137 human ensembl 70_37 +1 known silent c.219 p.V73 1.000 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1C HGNC RIPK1 8737 genome.wustl.edu 37 6 3078028 3078028 + Silent SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 6 3078028 3078028 C T SNP RIPK1 ENST00000259808 human ensembl 70_37 +1 known silent c.180 p.L60 0.991 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC SLC5A11 115584 genome.wustl.edu 37 16 24921753 24921753 + Missense_Mutation SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 16 24921753 24921753 G A SNP SLC5A11 ENST00000347898 human ensembl 70_37 +1 known missense c.1777 p.V593I 0.011 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC SNORD3B-2 780852 genome.wustl.edu 37 17 18967372 18967372 + RNA SNP G G T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 17 18967372 18967372 G T SNP SNORD3B-2 ENST00000364880 human ensembl 70_37 -1 known rna NULL NULL 0.077 - - - no_errors SNORD3B-2 HGNC STARD6 147323 genome.wustl.edu 37 18 51851221 51851221 + Silent SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 18 51851221 51851221 C T SNP STARD6 ENST00000307844 human ensembl 70_37 -1 known silent c.504 p.V168 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD6 HGNC STAT5B 6777 genome.wustl.edu 37 17 40362483 40362483 + Missense_Mutation SNP C C A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 17 40362483 40362483 C A SNP STAT5B ENST00000293328 human ensembl 70_37 -1 known missense c.1713 p.W571C 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 SV2C 22987 genome.wustl.edu 37 5 75580985 75580985 + Splice_Site SNP A A G TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 5 75580985 75580985 A G SNP SV2C ENST00000502798 human ensembl 70_37 +1 known splice_site c.914-2 e4-2 1.000 - - - no_errors SV2C HGNC SYNDIG1L 646658 genome.wustl.edu 37 14 74876248 74876248 + Nonsense_Mutation SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 14 74876248 74876248 C T SNP SYNDIG1L ENST00000331628 human ensembl 70_37 -1 known nonsense c.200 p.W67* 1.000 NULL pfam_Interferon-induced_TM_protein - no_errors SYNDIG1L HGNC TMEM254 80195 genome.wustl.edu 37 10 81841429 81841432 + RNA DEL AAAG AAAG - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 AAAG AAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 10 81841429 81841432 AAAG - DEL TMEM254 ENST00000463029 human ensembl 70_37 +1 known rna NULL NULL 0.019:0.020:0.019:0.021 - - - no_errors TMEM254 HGNC TMEM8A 58986 genome.wustl.edu 37 16 422230 422230 + Missense_Mutation SNP C C A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 16 422230 422230 C A SNP TMEM8A ENST00000431232 human ensembl 70_37 -1 known missense c.2073 p.W691C 1.000 pfam_DUF3522 pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC TRAF3 7187 genome.wustl.edu 37 14 103369593 103369593 + Missense_Mutation SNP G G A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 14 103369593 103369593 G A SNP TRAF3 ENST00000392745 human ensembl 70_37 +1 known missense c.962 p.R321Q 1.000 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC TRIM5 85363 genome.wustl.edu 37 11 5687321 5687321 + Frame_Shift_Del DEL A A - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 11 5687321 5687321 A - DEL TRIM5 ENST00000396853 human ensembl 70_37 -1 known frame_shift_del c.761 p.L254fs 0.002 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC TSC22D3 1831 genome.wustl.edu 37 X 107018613 107018613 + Missense_Mutation SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e X 107018613 107018613 C T SNP TSC22D3 ENST00000315660 human ensembl 70_37 -1 known missense c.37 p.G13S 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC TTLL6 284076 genome.wustl.edu 37 17 46863530 46863530 + Missense_Mutation SNP T T A TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 17 46863530 46863530 T A SNP TTLL6 ENST00000393382 human ensembl 70_37 -1 known missense c.1757 p.K586I 0.997 NULL pfam_Tub_tyr_ligase - no_errors TTLL6 HGNC UBAP2L 9898 genome.wustl.edu 37 1 154201178 154201178 + Missense_Mutation SNP C C T TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 1 154201178 154201178 C T SNP UBAP2L ENST00000361546 human ensembl 70_37 +1 known missense c.256 p.L86F 1.000 superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC VLDLR 7436 genome.wustl.edu 37 9 2643216 2643216 + Missense_Mutation SNP A A G TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 9 2643216 2643216 A G SNP VLDLR ENST00000382100 human ensembl 70_37 +1 known missense c.505 p.R169G 0.984 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC VPS45 11311 genome.wustl.edu 37 1 150082514 150082514 + RNA DEL A A - TCGA-IR-A3L7-01A-21D-A20U-09 TCGA-IR-A3L7-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3ae4ff71-2436-454a-bd10-33c454f966ef 0af7301e-afd2-4a54-9421-a69ef71c956e 1 150082514 150082514 A - DEL VPS45 ENST00000484306 human ensembl 70_37 +1 known rna NULL NULL 0.965 - - - no_errors VPS45 HGNC