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 LOC100129064 0 genome.wustl.edu 36 5 343335 343335 + RNA SNP T T G novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 5 343335 343335 T G SNP LOC100129064 XR_038303 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene SLC12A7 10723 genome.wustl.edu 36 5 1142099 1142099 + Missense_Mutation SNP A G G novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 5 1142099 1142099 A G SNP SLC12A7 NM_006598 human genbank 54_36p -1 validated missense c.487 p.C163R 0.998 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors WDR37 22884 genome.wustl.edu 36 10 1160849 1160849 + Splice_Site SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 10 1160849 1160849 G A SNP WDR37 NM_014023 human genbank 54_36p +1 reviewed splice_site c.1239-1 e12-1 1.000 - - - no_errors CREBBP 1387 genome.wustl.edu 36 16 3800722 3800722 + Missense_Mutation SNP C C A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 16 3800722 3800722 C A SNP CREBBP NM_004380 human genbank 54_36p -1 reviewed missense c.858 p.Q286H 1.000 NULL superfamily_TAZ_finger,HMMPfam_zf-TAZ,HMMSmart_ZnF_TAZ,HMMPfam_KIX,superfamily_KIX,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1,HMMPfam_DUF902,HMMPfam_DUF906,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,HMMPfam_Creb_binding,superfamily_Nuc_recept_coact - no_errors OR52A5 390054 genome.wustl.edu 36 11 5109548 5109548 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 11 5109548 5109548 G A SNP OR52A5 NM_001005160 human genbank 54_36p -1 provisional nonsense c.901 p.Q301* 0.916 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LOC442132 442132 genome.wustl.edu 36 5 7354425 7354425 + RNA SNP G A A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 5 7354425 7354425 G A SNP LOC442132 XR_040018 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - no_errors TP53 7157 genome.wustl.edu 36 17 7519132 7519132 + Missense_Mutation SNP G G C novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 17 7519132 7519132 G C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.523 p.R175G 0.993 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors DENND5A 23258 genome.wustl.edu 36 11 9148068 9148068 + Missense_Mutation SNP T T A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 11 9148068 9148068 T A SNP DENND5A NM_015213 human genbank 54_36p -1 validated missense c.2062 p.T688S 1.000 NULL HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_RUN,HMMSmart_SM00593,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT - no_errors CAP2 10486 genome.wustl.edu 36 6 17534837 17534837 + Missense_Mutation SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 6 17534837 17534837 G A SNP CAP2 NM_006366 human genbank 54_36p +1 reviewed missense c.159 p.M53I 1.000 HMMPfam_CAP_N,superfamily_N-terminal domain of adenylylcyclase associated protein CAP HMMPfam_CAP_N,PatternScan_CAP_1,superfamily_N-terminal domain of adenylylcyclase associated protein CAP,PatternScan_ADH_IRON_2,superfamily_C-terminal domain of adenylylcyclase associated protein,HMMPfam_CAP_C,HMMSmart_SM00673,PatternScan_CAP_2 - no_errors LOC729722 729722 genome.wustl.edu 36 15 18353031 18353031 + Silent SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 15 18353031 18353031 G A SNP LOC729722 XM_001716538 human genbank 54_36p +1 model silent c.525 p.L175 0.000 NULL HMMSmart_SM00248,HMMPfam_Ank,superfamily_Ankyrin repeat,PatternScan_ASP_PROTEASE - no_errors LOC400013 400013 genome.wustl.edu 36 12 19986448 19986448 + RNA SNP G G T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 12 19986448 19986448 G T SNP LOC400013 XR_017001 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene LOC400013 400013 genome.wustl.edu 36 12 19987053 19987053 + RNA SNP G G C novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 12 19987053 19987053 G C SNP LOC400013 XR_017001 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene NDN 4692 genome.wustl.edu 36 15 21483236 21483236 + Silent SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 15 21483236 21483236 C T SNP NDN NM_002487 human genbank 54_36p -1 reviewed silent c.222 p.A74 0.958 NULL HMMPfam_MAGE - no_errors SLC7A8 23428 genome.wustl.edu 36 14 22676970 22676970 + Missense_Mutation SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 14 22676970 22676970 C T SNP SLC7A8 NM_012244 human genbank 54_36p -1 validated missense c.1016 p.R339Q 1.000 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors LOC100130746 0 genome.wustl.edu 36 5 24207176 24207176 + RNA SNP C C A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 5 24207176 24207176 C A SNP LOC100130746 XR_038810 human genbank 54_36p +1 model rna NULL NULL 0.231 - - - pseudogene MASTL 84930 genome.wustl.edu 36 10 27499101 27499101 + Missense_Mutation SNP G G C novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 10 27499101 27499101 G C SNP MASTL NM_032844 human genbank 54_36p +1 validated missense c.1207 p.E403Q 0.999 superfamily_Kinase_like superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X - no_errors PLA2G3 50487 genome.wustl.edu 36 22 29866221 29866221 + Missense_Mutation SNP G G C novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 22 29866221 29866221 G C SNP PLA2G3 NM_015715 human genbank 54_36p -1 validated missense c.120 p.N40K 0.001 NULL superfamily_Phospholipase A2 PLA2,HMMPfam_Phospholip_A2_2,PatternScan_PA2_HIS - no_errors NOL4 8715 genome.wustl.edu 36 18 29963891 29963891 + Missense_Mutation SNP G G T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 18 29963891 29963891 G T SNP NOL4 NM_003787 human genbank 54_36p -1 validated missense c.356 p.T119K 1.000 NULL NULL - no_errors KRTAP27-1 643812 genome.wustl.edu 36 21 30631405 30631405 + Silent SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 21 30631405 30631405 G A SNP KRTAP27-1 NM_001077711 human genbank 54_36p -1 provisional silent c.453 p.F151 0.122 HMMPfam_PMG HMMPfam_PMG - no_errors ITGAD 3681 genome.wustl.edu 36 16 31336973 31336973 + Missense_Mutation SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 16 31336973 31336973 G A SNP ITGAD NM_005353 human genbank 54_36p +1 validated missense c.2576 p.R859H 0.933 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 CEP250 11190 genome.wustl.edu 36 20 33562667 33562667 + Missense_Mutation SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 20 33562667 33562667 G A SNP CEP250 NM_007186 human genbank 54_36p +1 reviewed missense c.7127 p.R2376H 0.126 NULL superfamily_Prefoldin - no_errors SSTR3 6753 genome.wustl.edu 36 22 35933318 35933318 + Silent SNP A G G novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 22 35933318 35933318 A G SNP SSTR3 NM_001051 human genbank 54_36p -1 reviewed silent c.471 p.A157 0.004 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LRRK2 120892 genome.wustl.edu 36 12 38979279 38979279 + Missense_Mutation SNP A A C novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 12 38979279 38979279 A C SNP LRRK2 NM_198578 human genbank 54_36p +1 reviewed missense c.3449 p.E1150A 0.362 superfamily_SSF52058,HMMPfam_LRR_1 superfamily_ARM-type_fold,superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52540,HMMPfam_Miro,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_WD40_like,HMMSmart_WD40,PatternScan_RCC1_2 - no_errors FAM187B 148109 genome.wustl.edu 36 19 40407790 40407790 + Silent SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 19 40407790 40407790 G A SNP FAM187B NM_152481 human genbank 54_36p -1 provisional silent c.888 p.F296 0.295 NULL NULL - no_errors PIGT 51604 genome.wustl.edu 36 20 43481586 43481586 + Missense_Mutation SNP A A G novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 20 43481586 43481586 A G SNP PIGT NM_015937 human genbank 54_36p +1 reviewed missense c.623 p.D208G 1.000 HMMPfam_Gpi16 HMMPfam_Gpi16 - no_errors MAP3K10 4294 genome.wustl.edu 36 19 45403027 45403027 + Missense_Mutation SNP T C C novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 19 45403027 45403027 T C SNP MAP3K10 NM_002446 human genbank 54_36p +1 reviewed missense c.1172 p.L391P 1.000 NULL superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors LOC648279 648279 genome.wustl.edu 36 12 48070154 48070154 + RNA SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 12 48070154 48070154 C T SNP LOC648279 XR_039433 human genbank 54_36p +1 model rna NULL NULL 0.003 - - - pseudogene SLC5A9 200010 genome.wustl.edu 36 1 48485623 48485623 + Missense_Mutation SNP T T C novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 1 48485623 48485623 T C SNP SLC5A9 NM_001011547 human genbank 54_36p +1 validated missense c.1921 p.W641R 0.376 NULL HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1 - no_errors ITGA1 3672 genome.wustl.edu 36 5 52237488 52237488 + Missense_Mutation SNP G G C novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 5 52237488 52237488 G C SNP ITGA1 NM_181501 human genbank 54_36p +1 reviewed missense c.1448 p.G483A 1.000 superfamily_SSF69318 superfamily_SSF69318,HMMSmart_Int_alpha,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA - no_errors OR8I2 120586 genome.wustl.edu 36 11 55618059 55618059 + Missense_Mutation SNP C C A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 11 55618059 55618059 C A SNP OR8I2 NM_001003750 human genbank 54_36p +1 provisional missense c.700 p.Q234K 0.007 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 STAT6 6778 genome.wustl.edu 36 12 55782895 55782895 + Missense_Mutation SNP T T C novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 12 55782895 55782895 T C SNP STAT6 NM_003153 human genbank 54_36p -1 reviewed missense c.1289 p.N430S 1.000 HMMPfam_STAT_bind,superfamily_p53-like transcription factors superfamily_Transcription factor STAT-4 N-domain,HMMPfam_STAT_int,HMMPfam_STAT_alpha,superfamily_STAT,HMMPfam_STAT_bind,superfamily_p53-like transcription factors,superfamily_SH2 domain,HMMPfam_SH2,HMMSmart_SM00252 - no_errors ZNF528 84436 genome.wustl.edu 36 19 57611194 57611194 + Missense_Mutation SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 19 57611194 57611194 G A SNP ZNF528 NM_032423 human genbank 54_36p +1 validated missense c.1277 p.R426Q 0.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors NLRP8 126205 genome.wustl.edu 36 19 61151352 61151352 + Missense_Mutation SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 19 61151352 61151352 G A SNP NLRP8 NM_176811 human genbank 54_36p +1 provisional missense c.272 p.R91H 0.002 superfamily_DEATH domain,HMMPfam_PAAD_DAPIN superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368 - no_errors IQCH 64799 genome.wustl.edu 36 15 65468376 65468376 + Missense_Mutation SNP C C G novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 15 65468376 65468376 C G SNP IQCH NM_001031715 human genbank 54_36p +1 provisional missense c.1610 p.P537R 1.000 NULL HMMPfam_IQ - no_errors DNAJC6 9829 genome.wustl.edu 36 1 65640136 65640136 + Missense_Mutation SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 1 65640136 65640136 G A SNP DNAJC6 NM_014787 human genbank 54_36p +1 validated missense c.2041 p.D681N 1.000 NULL superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ - no_errors CORO2B 10391 genome.wustl.edu 36 15 66805344 66805344 + Missense_Mutation SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 15 66805344 66805344 C T SNP CORO2B NM_006091 human genbank 54_36p +1 validated missense c.1420 p.R474C 1.000 NULL HMMPfam_DUF1899,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMPfam_DUF1900 - no_errors SERBP1 26135 genome.wustl.edu 36 1 67668443 67668443 + Silent SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 1 67668443 67668443 C T SNP SERBP1 NM_001018067 human genbank 54_36p -1 validated silent c.129 p.G43 1.000 NULL HMMPfam_HABP4_PAI-RBP1 - no_errors UGT2B28 54490 genome.wustl.edu 36 4 70195048 70195048 + Missense_Mutation SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 4 70195048 70195048 G A SNP UGT2B28 NM_053039 human genbank 54_36p +1 provisional missense c.1522 p.V508I 0.000 HMMPfam_UDPGT superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT - no_errors CSN2 1447 genome.wustl.edu 36 4 70857628 70857628 + Missense_Mutation SNP T T C novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 4 70857628 70857628 T C SNP CSN2 NM_001891 human genbank 54_36p -1 validated missense c.628 p.I210V 0.000 HMMPfam_Casein PatternScan_CASEIN_ALPHA_BETA,HMMPfam_Casein - no_errors ADAMTS3 9508 genome.wustl.edu 36 4 73373438 73373438 + Silent SNP G G C novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 4 73373438 73373438 G C SNP ADAMTS3 NM_014243 human genbank 54_36p -1 reviewed silent c.2943 p.T981 1.000 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors VCL 7414 genome.wustl.edu 36 10 75537099 75537099 + Missense_Mutation SNP C C G novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 10 75537099 75537099 C G SNP VCL NM_014000 human genbank 54_36p +1 reviewed missense c.2540 p.P847R 1.000 HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin superfamily_alpha-catenin/vinculin,HMMPfam_Vinculin,PatternScan_VINCULIN_1,PatternScan_VINCULIN_2 - no_errors LOC286157 286157 genome.wustl.edu 36 8 75678914 75678914 + RNA SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 8 75678914 75678914 C T SNP LOC286157 XR_038608 human genbank 54_36p -1 model rna NULL NULL 0.832 - - - pseudogene ACADM 34 genome.wustl.edu 36 1 75988723 75988723 + Splice_Site SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 1 75988723 75988723 G A SNP ACADM NM_000016 human genbank 54_36p +1 reviewed splice_site c.850-1 e10-1 1.000 - - - no_errors CENPN 55839 genome.wustl.edu 36 16 79623743 79623743 + Silent SNP G G T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 16 79623743 79623743 G T SNP CENPN NM_001100625 human genbank 54_36p +1 validated silent c.1005 p.P335 0.012 HMMPfam_CHL4 HMMPfam_CHL4 - no_errors ADAMTSL3 57188 genome.wustl.edu 36 15 82442310 82442310 + Missense_Mutation SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 15 82442310 82442310 G A SNP ADAMTSL3 NM_207517 human genbank 54_36p +1 validated missense c.2926 p.D976N 0.993 HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_PLAC - no_errors MBTPS1 8720 genome.wustl.edu 36 16 82676179 82676179 + Missense_Mutation SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 16 82676179 82676179 C T SNP MBTPS1 NM_003791 human genbank 54_36p -1 reviewed missense c.1196 p.R399Q 1.000 superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8 PatternScan_SUBTILASE_ASP,superfamily_Pept_S8_S53,HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER - no_errors SYNCRIP 10492 genome.wustl.edu 36 6 86381336 86381336 + Missense_Mutation SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 6 86381336 86381336 G A SNP SYNCRIP NM_006372 human genbank 54_36p -1 provisional missense c.1729 p.R577W 1.000 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors EPHA3 2042 genome.wustl.edu 36 3 89539143 89539143 + Silent SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 3 89539143 89539143 C T SNP EPHA3 NM_005233 human genbank 54_36p +1 reviewed silent c.1629 p.V543 0.087 NULL superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,PatternScan_EGF_2,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,HMMSmart_SM00454,HMMPfam_SAM_2,superfamily_SAM/Pointed domain - no_errors FAT3 120114 genome.wustl.edu 36 11 92172907 92172907 + Silent SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 11 92172907 92172907 C T SNP FAT3 NM_001008781 human genbank 54_36p +1 validated silent c.7080 p.C2360 0.976 superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2 - no_errors LOC400061 400061 genome.wustl.edu 36 12 93439855 93439855 + RNA SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 12 93439855 93439855 C T SNP LOC400061 XR_016608 human genbank 54_36p -1 model rna NULL NULL 0.007 - - - pseudogene LTA4H 4048 genome.wustl.edu 36 12 94939046 94939046 + Missense_Mutation SNP C C A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 12 94939046 94939046 C A SNP LTA4H NM_000895 human genbank 54_36p -1 provisional missense c.586 p.V196F 1.000 superfamily_Leukotriene A4 hydrolase N-terminal domain,HMMPfam_Peptidase_M1 "superfamily_Leukotriene A4 hydrolase N-terminal domain,HMMPfam_Peptidase_M1,superfamily_Metalloproteases (""zincins"") catalytic domain,superfamily_ARM repeat,HMMPfam_Leuk-A4-hydro_C" - no_errors LOC100131859 0 genome.wustl.edu 36 7 98878537 98878537 + RNA SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 7 98878537 98878537 G A SNP LOC100131859 XR_039392 human genbank 54_36p -1 model rna NULL NULL 0.521 - - - pseudogene FBXL4 26235 genome.wustl.edu 36 6 99428887 99428887 + Silent SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 6 99428887 99428887 G A SNP FBXL4 NM_012160 human genbank 54_36p -1 reviewed silent c.1854 p.S618 1.000 NULL superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52047,HMMSmart_LRR_CC - no_errors DRP2 1821 genome.wustl.edu 36 X 100390221 100390221 + Missense_Mutation SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 X 100390221 100390221 C T SNP DRP2 NM_001939 human genbank 54_36p +1 validated missense c.1517 p.T506M 0.996 superfamily_SSF47473 HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_SSF47473,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1 - no_errors MUC17 140453 genome.wustl.edu 36 7 100465020 100465020 + Silent SNP T T A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 7 100465020 100465020 T A SNP MUC17 NM_001040105 human genbank 54_36p +1 provisional silent c.3603 p.P1201 0.000 NULL superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors FILIP1L 11259 genome.wustl.edu 36 3 101052330 101052330 + Missense_Mutation SNP C C G novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 3 101052330 101052330 C G SNP FILIP1L NM_182909 human genbank 54_36p -1 validated missense c.880 p.E294Q 0.989 HMMPfam_CortBP2 HMMPfam_CortBP2,superfamily_Prefoldin - no_errors FNDC7 163479 genome.wustl.edu 36 1 109072832 109072832 + Silent SNP T T C novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 1 109072832 109072832 T C SNP FNDC7 ENST00000370017 human ensembl 54_36p +1 known silent c.1014 p.N338 0.001 HMMSmart_SM00060,superfamily_Fibronectin type III superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors PLCXD2 257068 genome.wustl.edu 36 3 112909520 112909520 + Missense_Mutation SNP A A G novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 3 112909520 112909520 A G SNP PLCXD2 NM_153268 human genbank 54_36p +1 validated missense c.221 p.Q74R 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors PHLDB2 90102 genome.wustl.edu 36 3 113085990 113085990 + Missense_Mutation SNP G G C novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 3 113085990 113085990 G C SNP PHLDB2 NM_145753 human genbank 54_36p +1 validated missense c.376 p.A126P 0.994 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors CAMK2D 817 genome.wustl.edu 36 4 114598044 114598044 + Missense_Mutation SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 4 114598044 114598044 C T SNP CAMK2D NM_001221 human genbank 54_36p -1 reviewed missense c.1329 p.M443I 1.000 superfamily_Protein kinase-like (PK-like),HMMPfam_CaMKII_AD superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMPfam_CaMKII_AD - no_errors PNLIPRP2 5408 genome.wustl.edu 36 10 118391637 118391637 + Missense_Mutation SNP A A G novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 10 118391637 118391637 A G SNP PNLIPRP2 NM_005396 human genbank 54_36p +1 validated missense c.1202 p.Q401R 0.003 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region COL14A1 7373 genome.wustl.edu 36 8 121367352 121367352 + Missense_Mutation SNP C C A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 8 121367352 121367352 C A SNP COL14A1 NM_021110 human genbank 54_36p +1 validated missense c.4039 p.P1347T 1.000 HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen - no_errors QRFPR 84109 genome.wustl.edu 36 4 122470306 122470306 + Missense_Mutation SNP C C A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 4 122470306 122470306 C A SNP QRFPR NM_198179 human genbank 54_36p -1 validated missense c.909 p.K303N 0.991 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors EIF2B1 1967 genome.wustl.edu 36 12 122672352 122672352 + Silent SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 12 122672352 122672352 G A SNP EIF2B1 NM_001414 human genbank 54_36p -1 validated silent c.822 p.D274 1.000 superfamily_NagB/RpiA/CoA transferase-like,HMMPfam_IF-2B superfamily_NagB/RpiA/CoA transferase-like,HMMPfam_IF-2B - no_errors FLJ30058 158763 genome.wustl.edu 36 X 130048281 130048281 + Missense_Mutation SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 X 130048281 130048281 C T SNP FLJ30058 NM_144967 human genbank 54_36p +1 validated missense c.1447 p.R483W 0.447 NULL superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors DOLK 22845 genome.wustl.edu 36 9 130749064 130749064 + Missense_Mutation SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 9 130749064 130749064 C T SNP DOLK NM_014908 human genbank 54_36p -1 validated missense c.340 p.V114M 1.000 NULL NULL - no_errors COL29A1 256076 genome.wustl.edu 36 3 131645090 131645090 + Missense_Mutation SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 3 131645090 131645090 G A SNP COL29A1 NM_153264 human genbank 54_36p +1 validated missense c.685 p.D229N 0.000 NULL HMMSmart_VWA,superfamily_SSF53300,HMMPfam_VWA - no_errors LATS1 9113 genome.wustl.edu 36 6 150039480 150039480 + Missense_Mutation SNP A A T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 6 150039480 150039480 A T SNP LATS1 NM_004690 human genbank 54_36p -1 reviewed missense c.2680 p.L894I 0.991 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_UBA-like,HMMPfam_UBA,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase_C - no_errors DAP3 7818 genome.wustl.edu 36 1 153967780 153967780 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 1 153967780 153967780 G T SNP DAP3 NM_004632 human genbank 54_36p +1 reviewed nonsense c.853 p.E285* 1.000 HMMPfam_DAP3 HMMPfam_DAP3 - no_errors SYT11 23208 genome.wustl.edu 36 1 154104757 154104757 + Missense_Mutation SNP A A T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 1 154104757 154104757 A T SNP SYT11 NM_152280 human genbank 54_36p +1 validated missense c.412 p.S138C 0.949 NULL superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors LPA 4018 genome.wustl.edu 36 6 160952727 160952727 + Missense_Mutation SNP C C A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 6 160952727 160952727 C A SNP LPA NM_005577 human genbank 54_36p -1 validated missense c.2460 p.R820S 0.564 superfamily_Kringle-like superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors ODZ2 57451 genome.wustl.edu 36 5 167622185 167622185 + Missense_Mutation SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 5 167622185 167622185 C T SNP ODZ2 ENST00000388903 human ensembl 54_36p +1 known missense c.8114 p.T2705M 0.126 NULL HMMPfam_Ten_N,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Carboxypeptidase regulatory domain,superfamily_NHL repeat,HMMPfam_NHL,HMMPfam_RHS_repeat - no_errors METTL13 51603 genome.wustl.edu 36 1 170032415 170032415 + Silent SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 1 170032415 170032415 C T SNP METTL13 NM_015935 human genbank 54_36p +1 validated silent c.1996 p.L666 0.338 superfamily_S-adenosyl-L-methionine-dependent methyltransferases superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_11 - no_errors TTN 7273 genome.wustl.edu 36 2 179127933 179127933 + Missense_Mutation SNP A A T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 2 179127933 179127933 A T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.76442 p.I25481N 1.000 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors SORBS2 8470 genome.wustl.edu 36 4 186781074 186781074 + Missense_Mutation SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 4 186781074 186781074 C T SNP SORBS2 NM_021069 human genbank 54_36p -1 reviewed missense c.2491 p.G831S 0.002 NULL HMMPfam_Sorb,HMMSmart_SM00459,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_errors COL5A2 1290 genome.wustl.edu 36 2 189641198 189641198 + Missense_Mutation SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 2 189641198 189641198 G A SNP COL5A2 NM_000393 human genbank 54_36p -1 reviewed missense c.1301 p.T434M 0.949 HMMPfam_Collagen HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI - no_errors CACNA1S 779 genome.wustl.edu 36 1 199313674 199313674 + Silent SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 1 199313674 199313674 G A SNP CACNA1S NM_000069 human genbank 54_36p -1 reviewed silent c.1575 p.S525 0.995 superfamily_SSF81324,HMMPfam_Ion_trans superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ - no_errors CASP8 841 genome.wustl.edu 36 2 201858282 201858282 + Missense_Mutation SNP C C T novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 2 201858282 201858282 C T SNP CASP8 NM_001080125 human genbank 54_36p +1 reviewed missense c.1478 p.P493L 0.997 superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14 superfamily_DEATH domain,HMMSmart_SM00031,HMMPfam_DED,superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS - no_errors KCNH1 3756 genome.wustl.edu 36 1 209259167 209259167 + Missense_Mutation SNP T T A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 1 209259167 209259167 T A SNP KCNH1 NM_172362 human genbank 54_36p -1 reviewed missense c.613 p.T205S 1.000 NULL superfamily_PYP-like sensor domain (PAS domain),HMMSmart_SM00086,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding - no_errors MAP2 4133 genome.wustl.edu 36 2 210226360 210226360 + Missense_Mutation SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 2 210226360 210226360 G A SNP MAP2 NM_002374 human genbank 54_36p +1 reviewed missense c.221 p.G74E 1.000 NULL HMMPfam_RII_binding_1,HMMPfam_MAP2_projctn,HMMPfam_Tubulin-binding,PatternScan_TAU_MAP - no_errors EPHX1 2052 genome.wustl.edu 36 1 224093152 224093152 + Missense_Mutation SNP T T A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 1 224093152 224093152 T A SNP EPHX1 NM_000120 human genbank 54_36p +1 reviewed missense c.539 p.V180D 1.000 superfamily_SSF53474,HMMPfam_Abhydrolase_1 superfamily_SSF53474,HMMPfam_EHN,HMMPfam_Abhydrolase_1 - no_errors NEU2 4759 genome.wustl.edu 36 2 233607323 233607323 + Missense_Mutation SNP G G A novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 2 233607323 233607323 G A SNP NEU2 NM_005383 human genbank 54_36p +1 reviewed missense c.455 p.R152Q 0.000 superfamily_Sialidase superfamily_Sialidase - no_errors KRT10 3858 genome.wustl.edu 36 17 36228834 36228845 + In_Frame_Del DEL GCCGCCGTGGCC GCCGCCGTGGCC - novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 GCCGCCGTGGCC GCCGCCGTGGCC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 17 36228834 36228845 GCCGCCGTGGCC - DEL KRT10 NM_000421 human genbank 54_36p -1 reviewed in_frame_del c.1479_1468 p.GHGG490in_frame_del 0.000:0.000:0.000:0.001:0.022:0.019:0.015:0.010:0.005:0.015:0.064:0.069 NULL HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF (deletion:cds_exon[36228565,36228939]) no_errors LOC100132430 0 genome.wustl.edu 36 14 49430922 49430924 + RNA DEL TTT TTT - novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 TTT TTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 14 49430922 49430924 TTT - DEL LOC100132430 XR_038888 human genbank 54_36p -1 model rna NULL NULL 0.000:0.013:0.002 - - (deletion:rna[49430514,49433522]) pseudogene CSRNP2 81566 genome.wustl.edu 36 12 49747741 49747744 + Frame_Shift_Del DEL CTGG CTGG - novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 CTGG CTGG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 12 49747741 49747744 CTGG - DEL CSRNP2 NM_030809 human genbank 54_36p -1 provisional frame_shift_del c.690_687 p.S229fs 1.000:1.000:1.000:0.999 NULL NULL (deletion:cds_exon[49747723,49748019]) no_errors CSRNP2 81566 genome.wustl.edu 36 12 49747751 49747755 + Frame_Shift_Del DEL GCACA GCACA - novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 GCACA GCACA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 12 49747751 49747755 GCACA - DEL CSRNP2 NM_030809 human genbank 54_36p -1 provisional frame_shift_del c.680_676 p.C226fs 1.000:1.000:1.000:1.000:1.000 NULL NULL (deletion:cds_exon[49747723,49748019]) no_errors LOC646791 646791 genome.wustl.edu 36 15 73402019 73402040 + RNA DEL GGCGGCGCGGTCCTGGGTGGCG GGCGGCGCGGTCCTGGGTGGCG - novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 GGCGGCGCGGTCCTGGGTGGCG GGCGGCGCGGTCCTGGGTGGCG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 15 73402019 73402040 GGCGGCGCGGTCCTGGGTGGCG - DEL LOC646791 XR_017650 human genbank 54_36p -1 model rna NULL NULL 0.004:0.001:0.001:0.000:0.001:0.000:0.001:0.001:0.002:0.003:0.002:0.001:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.001:0.001:0.007 - - (deletion:rna[73401167,73402105]) no_errors CENPF 1063 genome.wustl.edu 36 1 212881845 212881848 + Frame_Shift_Del DEL AGAG AGAG - novel unknown TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 AGAG AGAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 9db2682f-aa52-4b1f-b4bc-047084a9aac5 1aafabff-3396-4bf7-85c6-b43cd48003a0 1 212881845 212881848 AGAG - DEL CENPF NM_016343 human genbank 54_36p +1 reviewed frame_shift_del c.3541_3544 p.E1182fs 0.831:0.255:0.250:0.321 NULL HMMPfam_Cenp-F_N,superfamily_Spectrin repeat,HMMPfam_Cenp-F_leu_zip,superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F (deletion:cds_exon[212879887,212883290]) no_errors