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 MT-ATP6 4508 genome.wustl.edu 36 MT 9101 9101 + Missense_Mutation SNP A A G novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 MT 9101 9101 A G SNP MT-ATP6 ENST00000361899 human ensembl 54_36p +1 known missense c.574 p.I192V NULL HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A,PatternScan_ATPASE_A - no_errors TRNT1 51095 genome.wustl.edu 36 3 3161274 3161274 + Missense_Mutation SNP A A G novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 3 3161274 3161274 A G SNP TRNT1 NM_182916 human genbank 54_36p +1 validated missense c.488 p.D163G 1.000 superfamily_Nucleotidyltransferase,HMMPfam_PolyA_pol superfamily_Nucleotidyltransferase,HMMPfam_PolyA_pol,superfamily_Poly A polymerase C-terminal region-like - no_errors LOC158345 158345 genome.wustl.edu 36 9 7468285 7468285 + RNA SNP G G A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 9 7468285 7468285 G A SNP LOC158345 XR_017130 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene LOC727815 727815 genome.wustl.edu 36 12 7483128 7483128 + RNA SNP C C T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 12 7483128 7483128 C T SNP LOC727815 XR_015164 human genbank 54_36p -1 model rna NULL NULL 0.008 - - - no_errors PTPRM 5797 genome.wustl.edu 36 18 8103615 8103615 + Missense_Mutation SNP C C A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 18 8103615 8103615 C A SNP PTPRM NM_001105244 human genbank 54_36p +1 reviewed missense c.1988 p.A663E 1.000 superfamily_Fibronectin type III,HMMSmart_SM00060 HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors OR2Z1 284383 genome.wustl.edu 36 19 8702727 8702727 + Missense_Mutation SNP G G T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 19 8702727 8702727 G T SNP OR2Z1 NM_001004699 human genbank 54_36p +1 provisional missense c.337 p.V113F 0.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR2Z1 284383 genome.wustl.edu 36 19 8702880 8702880 + Silent SNP C C T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 19 8702880 8702880 C T SNP OR2Z1 NM_001004699 human genbank 54_36p +1 provisional silent c.490 p.L164 0.006 HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like - no_errors LDLR 3949 genome.wustl.edu 36 19 11085402 11085402 + Missense_Mutation SNP C C A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 19 11085402 11085402 C A SNP LDLR NM_000527 human genbank 54_36p +1 reviewed missense c.1550 p.S517Y 0.355 superfamily_YWTD domain,HMMPfam_Ldl_recept_b,HMMSmart_SM00135 superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b - no_errors ZNF20 7568 genome.wustl.edu 36 19 12105149 12105149 + Silent SNP C C T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 19 12105149 12105149 C T SNP ZNF20 NM_021143 human genbank 54_36p -1 validated silent c.852 p.E284 0.006 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors FRMPD4 9758 genome.wustl.edu 36 X 12618249 12618249 + Silent SNP C C G novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 X 12618249 12618249 C G SNP FRMPD4 NM_014728 human genbank 54_36p +1 validated silent c.696 p.T232 0.913 HMMSmart_B41 PatternScan_WW_DOMAIN_1,PatternScan_FERM_1,PatternScan_FERM_2,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M - no_errors CAPN7 23473 genome.wustl.edu 36 3 15257287 15257287 + Missense_Mutation SNP T T A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 3 15257287 15257287 T A SNP CAPN7 NM_014296 human genbank 54_36p +1 reviewed missense c.1575 p.D525E 1.000 superfamily_SSF54001,HMMSmart_CysPc,HMMPfam_Peptidase_C2 PatternScan_THIOL_PROTEASE_CYS,PatternScan_THIOL_PROTEASE_HIS,PatternScan_THIOL_PROTEASE_ASN,HMMSmart_MIT,HMMPfam_MIT,superfamily_SSF54001,HMMSmart_CysPc,HMMPfam_Peptidase_C2,superfamily_Peptidase_C2,HMMPfam_Calpain_III,HMMSmart_calpain_III - no_errors OR4M1 441670 genome.wustl.edu 36 14 19318757 19318757 + Missense_Mutation SNP G G A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 14 19318757 19318757 G A SNP OR4M1 NM_001005500 human genbank 54_36p +1 provisional missense c.436 p.A146T 0.002 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ENSG00000187928 0 genome.wustl.edu 36 19 20104313 20104313 + Nonsense_Mutation SNP A A T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 19 20104313 20104313 A T SNP ENSG00000187928 ENST00000339844 human ensembl 54_36p -1 known nonsense c.87 p.Y29* 0.537 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB - no_stop_codon HERC2P2 400322 genome.wustl.edu 36 15 20882010 20882010 + RNA SNP C A A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 15 20882010 20882010 C A SNP HERC2P2 NR_002824 human genbank 54_36p -1 validated rna NULL NULL 1.000 - - - pseudogene ENSG00000211782 0 genome.wustl.edu 36 14 21335756 21335756 + Missense_Mutation SNP C C T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 14 21335756 21335756 C T SNP ENSG00000211782 ENST00000390430 human ensembl 54_36p +1 known missense c.199 p.L67F 0.923 HMMPfam_V-set,superfamily_SSF48726 HMMPfam_V-set,superfamily_SSF48726 - no_stop_codon:bad_bp_length_for_coding_region LOC100132820 0 genome.wustl.edu 36 17 21828894 21828894 + Missense_Mutation SNP C C G novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 17 21828894 21828894 C G SNP LOC100132820 XM_001716790 human genbank 54_36p +1 model missense c.151 p.H51D 0.000 NULL NULL - no_errors SS18 6760 genome.wustl.edu 36 18 21921500 21921500 + Missense_Mutation SNP C C A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 18 21921500 21921500 C A SNP SS18 NM_001007559 human genbank 54_36p -1 validated missense c.109 p.D37Y 1.000 HMMPfam_SSXT HMMPfam_SSXT - no_errors OSBPL3 26031 genome.wustl.edu 36 7 24840697 24840697 + Missense_Mutation SNP C C T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 7 24840697 24840697 C T SNP OSBPL3 NM_015550 human genbank 54_36p -1 reviewed missense c.1679 p.C560Y 1.000 HMMPfam_Oxysterol_BP superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Oxysterol_BP,PatternScan_OSBP - no_errors RARB 5915 genome.wustl.edu 36 3 25477773 25477773 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 3 25477773 25477773 C A SNP RARB NM_000965 human genbank 54_36p +1 reviewed nonsense c.243 p.C81* 1.000 superfamily_SSF57716,HMMSmart_ZnF_C4,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1 superfamily_SSF57716,HMMSmart_ZnF_C4,HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep - no_errors HIST1H1C 3006 genome.wustl.edu 36 6 26164294 26164294 + Silent SNP C C A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 6 26164294 26164294 C A SNP HIST1H1C NM_005319 human genbank 54_36p -1 reviewed silent c.342 p.G114 0.094 NULL "HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Linker_histone" - no_errors LOC646755 646755 genome.wustl.edu 36 13 30014522 30014522 + RNA SNP T C C novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 13 30014522 30014522 T C SNP LOC646755 XR_037386 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene TEX15 56154 genome.wustl.edu 36 8 30823325 30823325 + Missense_Mutation SNP G G T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 8 30823325 30823325 G T SNP TEX15 NM_031271 human genbank 54_36p -1 validated missense c.2751 p.S917R 0.732 NULL NULL - no_errors DNMT3B 1789 genome.wustl.edu 36 20 30848457 30848457 + Missense_Mutation SNP T T G novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 20 30848457 30848457 T G SNP DNMT3B ENST00000375623 human ensembl 54_36p +1 known missense c.1625 p.L542R 0.000 NULL superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293 - no_start_codon CCL15 6359 genome.wustl.edu 36 17 31352614 31352614 + Missense_Mutation SNP G G A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 17 31352614 31352614 G A SNP CCL15 NM_032965 human genbank 54_36p -1 reviewed missense c.31 p.L11F 0.069 NULL superfamily_Chemokine_IL8,HMMPfam_IL8,HMMSmart_SCY,PatternScan_SMALL_CYTOKINES_CC - no_errors C11orf41 25758 genome.wustl.edu 36 11 33521992 33521992 + Silent SNP A A G novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 11 33521992 33521992 A G SNP C11orf41 NM_012194 human genbank 54_36p +1 validated silent c.1416 p.A472 0.003 NULL NULL - no_errors ENSG00000209785 0 genome.wustl.edu 36 12 34209765 34209765 + RNA SNP G G A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 12 34209765 34209765 G A SNP ENSG00000209785 ENST00000387050 human ensembl 54_36p +1 novel rna NULL NULL 0.998 - - - pseudogene KIF21A 55605 genome.wustl.edu 36 12 38020344 38020344 + Nonsense_Mutation SNP T T A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 12 38020344 38020344 T A SNP KIF21A NM_017641 human genbank 54_36p -1 validated nonsense c.2161 p.R721* 1.000 superfamily_WD40 repeat-like superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_WD40 repeat-like,superfamily_Prefoldin,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors ADAM32 203102 genome.wustl.edu 36 8 39113365 39113365 + Missense_Mutation SNP G G T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 8 39113365 39113365 G T SNP ADAM32 NM_145004 human genbank 54_36p +1 validated missense c.171 p.E57D 0.091 HMMPfam_Pep_M12B_propep "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2,PatternScan_EGF_2" - no_errors EFTUD2 9343 genome.wustl.edu 36 17 40285354 40285354 + Silent SNP C C A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 17 40285354 40285354 C A SNP EFTUD2 NM_004247 human genbank 54_36p -1 validated silent c.2664 p.R888 1.000 HMMPfam_EFG_C,superfamily_EFG_III_V PatternScan_EFACTOR_GTP,superfamily_SSF52540,HMMPfam_GTP_EFTU,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_EFG_III_V,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_EFG_IV,HMMPfam_EFG_C - no_errors NPEPPS 9520 genome.wustl.edu 36 17 43019703 43019703 + Silent SNP T T G novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 17 43019703 43019703 T G SNP NPEPPS NM_006310 human genbank 54_36p +1 reviewed silent c.957 p.V319 1.000 "HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" "superfamily_Leukotriene A4 hydrolase N-terminal domain,HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain" - no_errors KCNK6 9424 genome.wustl.edu 36 19 43509131 43509131 + Silent SNP G G T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 19 43509131 43509131 G T SNP KCNK6 NM_004823 human genbank 54_36p +1 reviewed silent c.381 p.A127 0.127 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2 - no_errors SLC12A5 57468 genome.wustl.edu 36 20 44117017 44117017 + Missense_Mutation SNP G G A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 20 44117017 44117017 G A SNP SLC12A5 NM_020708 human genbank 54_36p +1 reviewed missense c.2735 p.R912H 1.000 NULL HMMPfam_AA_permease - no_errors RHOA 387 genome.wustl.edu 36 3 49372774 49372774 + Missense_Mutation SNP C C A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 3 49372774 49372774 C A SNP RHOA NM_001664 human genbank 54_36p -1 validated missense c.454 p.G152C 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00174 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00174 - no_errors ITGA2 3673 genome.wustl.edu 36 5 52413255 52413255 + Missense_Mutation SNP G G A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 5 52413255 52413255 G A SNP ITGA2 NM_002203 human genbank 54_36p +1 reviewed missense c.3116 p.S1039N 0.992 HMMPfam_Integrin_alpha2,superfamily_Integrin domains superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors OR10P1 121130 genome.wustl.edu 36 12 54317785 54317785 + Silent SNP C C A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 12 54317785 54317785 C A SNP OR10P1 NM_206899 human genbank 54_36p +1 provisional silent c.843 p.V281 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors CES7 221223 genome.wustl.edu 36 16 54438096 54438096 + Splice_Site SNP C C G novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 16 54438096 54438096 C G SNP CES7 NM_145024 human genbank 54_36p -1 validated splice_site c.1347-1 e12-1 0.996 - - - no_errors EXOC1 55763 genome.wustl.edu 36 4 56463417 56463417 + Missense_Mutation SNP A A C novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 4 56463417 56463417 A C SNP EXOC1 NM_001024924 human genbank 54_36p +1 reviewed missense c.2488 p.K830Q 1.000 HMMPfam_Sec3 HMMPfam_Sec3 - no_errors OR5B2 390190 genome.wustl.edu 36 11 57947239 57947239 + Silent SNP G G T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 11 57947239 57947239 G T SNP OR5B2 NM_001005566 human genbank 54_36p -1 provisional silent c.72 p.P24 0.039 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors KIR2DL3 3804 genome.wustl.edu 36 19 59955760 59955760 + Missense_Mutation SNP G G C novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 19 59955760 59955760 G C SNP KIR2DL3 NM_015868 human genbank 54_36p +1 reviewed missense c.1003 p.E335Q 0.011 NULL superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig - no_errors NCF1B 654816 genome.wustl.edu 36 7 72281634 72281634 + Silent SNP G G C novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 7 72281634 72281634 G C SNP NCF1B ENST00000338578 human ensembl 54_36p +1 known silent c.552 p.V184 1.000 superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 superfamily_PX,HMMPfam_PX,HMMSmart_PX,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,HMMPfam_p47_phox_C - no_errors USP33 23032 genome.wustl.edu 36 1 77972665 77972665 + Missense_Mutation SNP C C A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 1 77972665 77972665 C A SNP USP33 NM_015017 human genbank 54_36p -1 validated missense c.572 p.G191V 1.000 superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1 HMMSmart_SM00290,HMMPfam_zf-UBP,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,HMMSmart_SM00695 - no_errors LOC642546 0 genome.wustl.edu 36 X 79714046 79714046 + RNA SNP G G A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 X 79714046 79714046 G A SNP LOC642546 XR_038841 human genbank 54_36p -1 model rna NULL NULL 0.939 - - - pseudogene ELMOD3 0 genome.wustl.edu 36 2 85471398 85471398 + Silent SNP G G A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 2 85471398 85471398 G A SNP ELMOD3 ENST00000393852 human ensembl 54_36p +1 known silent c.948 p.L316 0.846 NULL HMMPfam_ELMO_CED12 - no_errors MIRN1179 0 genome.wustl.edu 36 15 86952351 86952351 + RNA SNP G G T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 15 86952351 86952351 G T SNP MIRN1179 ENST00000408703 human ensembl 54_36p +1 known rna NULL NULL 0.004 - - - no_errors RGPD4 285190 genome.wustl.edu 36 2 107844080 107844080 + Splice_Site SNP A A G novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 2 107844080 107844080 A G SNP RGPD4 ENST00000354986 human ensembl 54_36p +1 known splice_site c.1921-2 e14-2 0.993 - - - no_errors GUCY2F 2986 genome.wustl.edu 36 X 108560277 108560277 + Missense_Mutation SNP T T A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 X 108560277 108560277 T A SNP GUCY2F NM_001522 human genbank 54_36p -1 reviewed missense c.1706 p.D569V 1.000 superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1 - no_errors AMPD2 271 genome.wustl.edu 36 1 109972270 109972270 + Missense_Mutation SNP C C T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 1 109972270 109972270 C T SNP AMPD2 NM_004037 human genbank 54_36p +1 validated missense c.1285 p.H429Y 1.000 superfamily_Metallo-dependent hydrolases,HMMPfam_A_deaminase superfamily_Metallo-dependent hydrolases,HMMPfam_A_deaminase,PatternScan_A_DEAMINASE - no_errors TMCO3 55002 genome.wustl.edu 36 13 113200781 113200781 + Missense_Mutation SNP G G A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 13 113200781 113200781 G A SNP TMCO3 NM_017905 human genbank 54_36p +1 validated missense c.568 p.A190T 1.000 NULL HMMPfam_Na_H_Exchanger - no_errors TECTA 7007 genome.wustl.edu 36 11 120506014 120506014 + Missense_Mutation SNP G G A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 11 120506014 120506014 G A SNP TECTA NM_005422 human genbank 54_36p +1 reviewed missense c.2825 p.R942H 1.000 HMMPfam_C8 HMMSmart_SM00539,HMMPfam_NIDO,HMMSmart_SM00215,HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00181,PatternScan_EGF_2,PatternScan_FA58C_2,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1,superfamily_EGF/Laminin - no_errors FAM3C 10447 genome.wustl.edu 36 7 120777773 120777773 + Missense_Mutation SNP C C T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 7 120777773 120777773 C T SNP FAM3C NM_001040020 human genbank 54_36p -1 reviewed missense c.662 p.C221Y 1.000 NULL NULL - no_errors CNTNAP5 129684 genome.wustl.edu 36 2 125121910 125121910 + Missense_Mutation SNP G G A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 2 125121910 125121910 G A SNP CNTNAP5 NM_130773 human genbank 54_36p +1 reviewed missense c.1979 p.S660N 0.994 superfamily_ConA_like_lec_gl PatternScan_FA58C_1,PatternScan_FIBRIN_AG_C_DOMAIN,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_FA58C,superfamily_Gal_bind_like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_2,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMSmart_EGF,HMMPfam_EGF,superfamily_Fibrinogen_a/b/g_C - no_errors LOC653269 653269 genome.wustl.edu 36 2 130937852 130937852 + Silent SNP C C A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 2 130937852 130937852 C A SNP LOC653269 XM_928585 human genbank 54_36p -1 model silent c.2235 p.G745 1.000 superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268 superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2 - no_errors TMEM163 81615 genome.wustl.edu 36 2 134930768 134930768 + Missense_Mutation SNP T T G novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 2 134930768 134930768 T G SNP TMEM163 NM_030923 human genbank 54_36p -1 validated missense c.859 p.M287L 1.000 NULL NULL - no_errors PCDHB4 56131 genome.wustl.edu 36 5 140482205 140482205 + Silent SNP G G A novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 5 140482205 140482205 G A SNP PCDHB4 NM_018938 human genbank 54_36p +1 reviewed silent c.441 p.P147 0.303 superfamily_Cadherin,HMMPfam_Cadherin HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA - no_errors KCNK9 51305 genome.wustl.edu 36 8 140700412 140700412 + Missense_Mutation SNP C C T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 8 140700412 140700412 C T SNP KCNK9 NM_016601 human genbank 54_36p -1 reviewed missense c.396 p.M132I 1.000 superfamily_SSF81324,HMMPfam_Ion_trans_2 superfamily_SSF81324,HMMPfam_Ion_trans_2 - no_errors SSPO 23145 genome.wustl.edu 36 7 149148974 149148974 + Missense_Mutation SNP C T T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 7 149148974 149148974 C T SNP SSPO NM_198455 human genbank 54_36p +1 provisional missense c.12397 p.P4133S 0.997 NULL HMMSmart_SM00216,HMMPfam_VWD,superfamily_LDL receptor-like module,HMMSmart_SM00192,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_Serine proterase inhibitors,HMMSmart_SM00214,HMMSmart_SM00215,HMMPfam_VWC,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,HMMPfam_Ldl_recept_a,PatternScan_LDLRA_1,HMMPfam_TIL,superfamily_PMP inhibitors,PatternScan_EGF_1,PatternScan_VWFC_1,PatternScan_GLYCO_HORMONE_BETA_1 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region GABRA6 2559 genome.wustl.edu 36 5 161049829 161049829 + Missense_Mutation SNP A A T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 5 161049829 161049829 A T SNP GABRA6 NM_000811 human genbank 54_36p +1 reviewed missense c.718 p.M240L 1.000 superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,superfamily_Neurotransmitter-gated ion-channel transmembrane pore superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb - no_errors LRRC52 440699 genome.wustl.edu 36 1 163799514 163799514 + Silent SNP C C T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 1 163799514 163799514 C T SNP LRRC52 NM_001005214 human genbank 54_36p +1 validated silent c.771 p.A257 0.819 NULL HMMPfam_LRRNT,HMMSmart_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1 - no_errors TCP10 6953 genome.wustl.edu 36 6 167709503 167709503 + Missense_Mutation SNP G G T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 6 167709503 167709503 G T SNP TCP10 NM_004610 human genbank 54_36p -1 validated missense c.629 p.P210Q 0.014 HMMPfam_Tcp10_C HMMPfam_Tcp10_C - no_errors HSPD1 3329 genome.wustl.edu 36 2 198071746 198071746 + Silent SNP C C T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 2 198071746 198071746 C T SNP HSPD1 NM_002156 human genbank 54_36p -1 reviewed silent c.72 p.R24 0.986 NULL superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,superfamily_SSF54849,superfamily_SSF52029,PatternScan_CHAPERONINS_CPN60 - no_errors TLR5 7100 genome.wustl.edu 36 1 221352198 221352198 + Missense_Mutation SNP C C T novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 1 221352198 221352198 C T SNP TLR5 NM_003268 human genbank 54_36p -1 validated missense c.799 p.A267T 0.001 superfamily_SSF52058 superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_LRRCT,superfamily_TIR,HMMSmart_TIR,HMMPfam_TIR - no_errors DOCK10 55619 genome.wustl.edu 36 2 225379152 225379152 + Missense_Mutation SNP G G C novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 2 225379152 225379152 G C SNP DOCK10 NM_014689 human genbank 54_36p -1 validated missense c.3749 p.T1250R 0.999 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto - no_errors TP53 7157 genome.wustl.edu 36 17 7514728 7514728 + Frame_Shift_Del DEL G G - novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 17 7514728 7514728 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.1024 p.R342fs 0.397 HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain (deletion:cds_exon[7514652,7514758]) no_errors LOC100133546 0 genome.wustl.edu 36 9 34651174 34651204 + RNA DEL CAGGGTATTAGTATTAGTACTAATACTCTTC CAGGGTATTAGTATTAGTACTAATACTCTTC - novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 CAGGGTATTAGTATTAGTACTAATACTCTTC CAGGGTATTAGTATTAGTACTAATACTCTTC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 9 34651174 34651204 CAGGGTATTAGTATTAGTACTAATACTCTTC - DEL LOC100133546 XR_039196 human genbank 54_36p -1 model rna NULL NULL 0.004:0.010:0.016:0.021:0.026:0.030:0.033:0.035:0.037:0.039:0.039:0.039:0.045:0.046:0.048:0.049:0.050:0.050:0.050:0.050:0.057:0.078:0.092:0.129:0.155:0.181:0.205:0.228:0.249:0.322:0.395 - - (deletion:rna[34646796,34651770]) pseudogene ADCK2 90956 genome.wustl.edu 36 7 140020034 140020034 + Frame_Shift_Del DEL C C - novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 7 140020034 140020034 C - DEL ADCK2 NM_052853 human genbank 54_36p +1 validated frame_shift_del c.435 p.Y145fs 0.994 NULL HMMPfam_ABC1,superfamily_Protein kinase-like (PK-like) (deletion:cds_exon[140019600,140020532]) no_errors IRF2 3660 genome.wustl.edu 36 4 185557208 185557216 + In_Frame_Del DEL CAGATGGGA CAGATGGGA - novel unknown TCGA-61-1901-01A-01W-0639-09 TCGA-61-1901-11A-01W-0640-09 CAGATGGGA CAGATGGGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 14779002-3885-4e83-9c90-b5cc9b90a5f1 6393bf53-b679-445c-9c6f-55a90a252a01 4 185557208 185557216 CAGATGGGA - DEL IRF2 NM_002199 human genbank 54_36p -1 reviewed in_frame_del c.549_541 p.SHL181in_frame_del 0.975:0.995:0.996:0.990:0.994:0.987:0.830:0.997:0.999 NULL "HMMSmart_SM00348,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_IRF,PatternScan_IRF" (deletion:cds_exon[185557063,185557227]) no_errors