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 FOXD4 2298 genome.wustl.edu 36 9 107579 107579 + Missense_Mutation SNP C C A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 9 107579 107579 C A SNP FOXD4 NM_207305 human genbank 54_36p -1 validated missense c.541 p.D181Y 1.000 HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2 - no_errors PAPOLB 56903 genome.wustl.edu 36 7 4867217 4867217 + Missense_Mutation SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 7 4867217 4867217 C T SNP PAPOLB NM_020144 human genbank 54_36p -1 validated missense c.751 p.A251T 1.000 HMMPfam_PAP_central,superfamily_SSF81631 HMMPfam_PAP_central,superfamily_SSF81301,HMMPfam_NTP_transf_2,superfamily_SSF81631,superfamily_PAP_C,HMMPfam_PAP_RNA-bind - no_errors JMJD2B 23030 genome.wustl.edu 36 19 4990897 4990897 + Silent SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 19 4990897 4990897 C T SNP JMJD2B NM_015015 human genbank 54_36p +1 validated silent c.192 p.D64 0.830 NULL HMMSmart_SM00545,HMMPfam_JmjN,HMMSmart_SM00558,HMMPfam_JmjC,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT,HMMPfam_LBR_tudor - no_errors TP53 7157 genome.wustl.edu 36 17 7517878 7517878 + Missense_Mutation SNP C C A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 17 7517878 7517878 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.785 p.G262V 0.996 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 SBF2 81846 genome.wustl.edu 36 11 9759714 9759714 + Missense_Mutation SNP A A C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 11 9759714 9759714 A C SNP SBF2 NM_030962 human genbank 54_36p -1 reviewed missense c.5367 p.I1789M 0.995 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_GRAM,HMMSmart_SM00568,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMPfam_PH,HMMSmart_SM00233 - no_errors GCNT2 2651 genome.wustl.edu 36 6 10694442 10694442 + Silent SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 6 10694442 10694442 G A SNP GCNT2 NM_145655 human genbank 54_36p +1 reviewed silent c.234 p.L78 0.356 NULL HMMPfam_Branch - no_errors FARSA 2193 genome.wustl.edu 36 19 12896072 12896072 + Silent SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 19 12896072 12896072 C T SNP FARSA NM_004461 human genbank 54_36p -1 validated silent c.1281 p.K427 1.000 superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2d "superfamily_""Winged helix"" DNA-binding domain,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2d" - no_errors SMCR8 140775 genome.wustl.edu 36 17 18160434 18160434 + Missense_Mutation SNP G G C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 17 18160434 18160434 G C SNP SMCR8 NM_144775 human genbank 54_36p +1 validated missense c.606 p.L202F 1.000 NULL NULL - no_errors LOC440225 440225 genome.wustl.edu 36 15 19386674 19386674 + RNA SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 15 19386674 19386674 C T SNP LOC440225 XR_042334 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene LOC100129842 0 genome.wustl.edu 36 19 20519579 20519579 + RNA SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 19 20519579 20519579 G A SNP LOC100129842 XR_042310 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - no_errors LOC646030 646030 genome.wustl.edu 36 17 26401392 26401392 + RNA SNP G G C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 17 26401392 26401392 G C SNP LOC646030 XR_039347 human genbank 54_36p -1 model rna NULL NULL 0.005 - - - pseudogene OTOF 9381 genome.wustl.edu 36 2 26553596 26553596 + Missense_Mutation SNP T T A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 2 26553596 26553596 T A SNP OTOF NM_194248 human genbank 54_36p -1 reviewed missense c.2471 p.K824M 1.000 NULL HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerB - no_errors NF1 4763 genome.wustl.edu 36 17 26689236 26689236 + Nonsense_Mutation SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 17 26689236 26689236 C T SNP NF1 NM_001042492 human genbank 54_36p +1 reviewed nonsense c.6772 p.R2258* 1.000 NULL HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516 - no_errors FKBP14 55033 genome.wustl.edu 36 7 30020917 30020917 + Missense_Mutation SNP T T C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 7 30020917 30020917 T C SNP FKBP14 NM_017946 human genbank 54_36p -1 validated missense c.595 p.I199V 1.000 superfamily_EF-hand,PatternScan_EF_HAND_1 superfamily_FKBP-like,HMMPfam_FKBP_C,superfamily_EF-hand,PatternScan_EF_HAND_1,PatternScan_ER_TARGET - no_errors TRIM39 56658 genome.wustl.edu 36 6 30405527 30405527 + Splice_Site SNP G G T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 6 30405527 30405527 G T SNP TRIM39 NM_021253 human genbank 54_36p +1 reviewed splice_site c.453+1 e1+1 1.000 - - - no_errors SETD1A 9739 genome.wustl.edu 36 16 30882950 30882950 + Missense_Mutation SNP C C G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 16 30882950 30882950 C G SNP SETD1A NM_014712 human genbank 54_36p +1 provisional missense c.674 p.A225G 0.742 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SSF82199,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET - no_errors ZNF438 220929 genome.wustl.edu 36 10 31178946 31178946 + Missense_Mutation SNP C C G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 10 31178946 31178946 C G SNP ZNF438 NM_182755 human genbank 54_36p -1 validated missense c.394 p.A132P 0.011 NULL superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors LTA 4049 genome.wustl.edu 36 6 31649131 31649131 + Silent SNP G G C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 6 31649131 31649131 G C SNP LTA NM_000595 human genbank 54_36p +1 reviewed silent c.300 p.L100 0.998 superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF,PatternScan_TNF_1 superfamily_TNF-like,HMMSmart_SM00207,HMMPfam_TNF,PatternScan_TNF_1 - no_errors TESK1 7016 genome.wustl.edu 36 9 35599518 35599518 + Missense_Mutation SNP C C A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 9 35599518 35599518 C A SNP TESK1 NM_006285 human genbank 54_36p +1 reviewed missense c.1660 p.P554T 0.995 NULL superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors MAPK14 1432 genome.wustl.edu 36 6 36183264 36183264 + Missense_Mutation SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 6 36183264 36183264 C T SNP MAPK14 NM_001315 human genbank 54_36p +1 reviewed missense c.896 p.A299V 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_MAPK - no_errors GRIK3 2899 genome.wustl.edu 36 1 37063790 37063790 + Splice_Site SNP C C A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 1 37063790 37063790 C A SNP GRIK3 NM_000831 human genbank 54_36p -1 reviewed splice_site c.1754+1 e11+1 1.000 - - - no_errors PAK6 56924 genome.wustl.edu 36 15 38345781 38345781 + Missense_Mutation SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 15 38345781 38345781 G A SNP PAK6 NM_020168 human genbank 54_36p +1 reviewed missense c.651 p.M217I 0.251 NULL HMMPfam_PBD,HMMSmart_SM00285,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP - no_errors CNTNAP3 79937 genome.wustl.edu 36 9 39099165 39099165 + Missense_Mutation SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 9 39099165 39099165 C T SNP CNTNAP3 NM_033655 human genbank 54_36p -1 reviewed missense c.2357 p.R786H 0.003 superfamily_Concanavalin A-like lectins/glucanases HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,superfamily_Fibrinogen C-terminal domain-like,PatternScan_GLYCO_HORMONE_BETA_1 - no_errors CNTN1 1272 genome.wustl.edu 36 12 39602490 39602490 + Silent SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 12 39602490 39602490 C T SNP CNTN1 NM_001843 human genbank 54_36p +1 reviewed silent c.393 p.S131 1.000 superfamily_Immunoglobulin,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_V-set,PatternScan_N6_MTASE,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors HKR1 284459 genome.wustl.edu 36 19 42545711 42545711 + Missense_Mutation SNP C C G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 19 42545711 42545711 C G SNP HKR1 NM_181786 human genbank 54_36p +1 provisional missense c.1174 p.R392G 0.927 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 RET 5979 genome.wustl.edu 36 10 42920522 42920522 + Missense_Mutation SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 10 42920522 42920522 G A SNP RET NM_020975 human genbank 54_36p +1 reviewed missense c.742 p.G248S 0.003 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors YIF1B 90522 genome.wustl.edu 36 19 43492095 43492095 + Missense_Mutation SNP C C G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 19 43492095 43492095 C G SNP YIF1B NM_001039672 human genbank 54_36p -1 validated missense c.87 p.Q29H 0.946 NULL HMMPfam_YIF1 - no_errors PTPRF 5792 genome.wustl.edu 36 1 43843185 43843185 + Missense_Mutation SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 1 43843185 43843185 C T SNP PTPRF NM_002840 human genbank 54_36p +1 reviewed missense c.3062 p.A1021V 0.510 HMMSmart_SM00060,superfamily_Fibronectin type III superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors FCGBP 8857 genome.wustl.edu 36 19 45125691 45125691 + Missense_Mutation SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 19 45125691 45125691 C T SNP FCGBP NM_003890 human genbank 54_36p -1 validated missense c.418 p.G140S 1.000 NULL HMMSmart_FOLN,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL,HMMPfam_TIL_assoc,HMMSmart_VWC - no_errors CORIN 10699 genome.wustl.edu 36 4 47300366 47300366 + Missense_Mutation SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 4 47300366 47300366 G A SNP CORIN NM_006587 human genbank 54_36p -1 reviewed missense c.2617 p.R873C 0.150 superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_SRCR-like,HMMSmart_SM00202,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_SRCR_1,PatternScan_TRYPSIN_SER - no_errors C12orf62 84987 genome.wustl.edu 36 12 48800262 48800262 + Missense_Mutation SNP A A T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 12 48800262 48800262 A T SNP C12orf62 NM_032901 human genbank 54_36p +1 predicted missense c.169 p.M57L 0.065 NULL NULL - no_errors USP4 7375 genome.wustl.edu 36 3 49352440 49352440 + Missense_Mutation SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 3 49352440 49352440 G A SNP USP4 NM_003363 human genbank 54_36p -1 validated missense c.22 p.R8C 0.111 NULL HMMSmart_SM00695,HMMPfam_DUF1055,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors RBM6 10180 genome.wustl.edu 36 3 49980104 49980104 + Missense_Mutation SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 3 49980104 49980104 C T SNP RBM6 NM_005777 human genbank 54_36p +1 provisional missense c.242 p.P81L 0.858 NULL superfamily_SSF54928,HMMSmart_RRM,HMMSmart_ZnF_C2H2,HMMSmart_G_patch,HMMPfam_G-patch - no_errors KRT79 338785 genome.wustl.edu 36 12 51510292 51510292 + Silent SNP C C G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 12 51510292 51510292 C G SNP KRT79 NM_175834 human genbank 54_36p -1 validated silent c.750 p.V250 0.998 HMMPfam_Filament HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF - no_errors IQCF2 389123 genome.wustl.edu 36 3 51870730 51870730 + Missense_Mutation SNP T T C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 3 51870730 51870730 T C SNP IQCF2 NM_203424 human genbank 54_36p +1 validated missense c.8 p.V3A 0.003 NULL superfamily_SSF52540,HMMSmart_IQ,HMMPfam_IQ - no_errors NPAS1 4861 genome.wustl.edu 36 19 52234231 52234231 + Silent SNP C C G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 19 52234231 52234231 C G SNP NPAS1 NM_002517 human genbank 54_36p +1 reviewed silent c.786 p.V262 1.000 NULL superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH,HMMPfam_PAS,HMMSmart_PAS,superfamily_SSF55785,HMMPfam_PAS_3,HMMSmart_PAC - no_errors OR5J2 282775 genome.wustl.edu 36 11 55701415 55701415 + Missense_Mutation SNP C C G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 11 55701415 55701415 C G SNP OR5J2 NM_001005492 human genbank 54_36p +1 provisional missense c.746 p.T249S 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LYN 4067 genome.wustl.edu 36 8 57029099 57029099 + Splice_Site SNP T T G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 8 57029099 57029099 T G SNP LYN NM_002350 human genbank 54_36p +1 validated splice_site c.790+2 e7+2 1.000 - - - no_errors ZNF841 284371 genome.wustl.edu 36 19 57261537 57261537 + Silent SNP T T C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 19 57261537 57261537 T C SNP ZNF841 ENST00000389534 human ensembl 54_36p -1 known silent c.1062 p.S354 0.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_IG_MHC - no_errors SDR16C5 195814 genome.wustl.edu 36 8 57391353 57391353 + Missense_Mutation SNP C C A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 8 57391353 57391353 C A SNP SDR16C5 NM_138969 human genbank 54_36p -1 validated missense c.108 p.K36N 1.000 NULL superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short - no_errors ADRM1 11047 genome.wustl.edu 36 20 60316511 60316511 + Missense_Mutation SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 20 60316511 60316511 C T SNP ADRM1 NM_007002 human genbank 54_36p +1 reviewed missense c.896 p.P299L 1.000 HMMPfam_ARM_1 HMMPfam_ARM_1 - no_errors MTA2 9219 genome.wustl.edu 36 11 62122408 62122408 + Missense_Mutation SNP C C G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 11 62122408 62122408 C G SNP MTA2 NM_004739 human genbank 54_36p -1 reviewed missense c.339 p.E113D 0.998 HMMPfam_BAH,HMMSmart_BAH PatternScan_GATA_ZN_FINGER_1,HMMPfam_BAH,HMMSmart_BAH,HMMPfam_ELM2,HMMSmart_SANT,HMMPfam_Myb_DNA-binding,superfamily_SSF57716,HMMSmart_ZnF_GATA,HMMPfam_GATA - no_errors PRKCA 5578 genome.wustl.edu 36 17 62213461 62213461 + Silent SNP T T G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 17 62213461 62213461 T G SNP PRKCA NM_002737 human genbank 54_36p +1 reviewed silent c.1620 p.G540 0.380 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C - no_errors MDH1 4190 genome.wustl.edu 36 2 63678045 63678045 + Missense_Mutation SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 2 63678045 63678045 G A SNP MDH1 NM_005917 human genbank 54_36p +1 reviewed missense c.208 p.A70T 0.996 superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Ldh_1_N superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Ldh_1_N,PatternScan_MDH,HMMPfam_Ldh_1_C,superfamily_LDH C-terminal domain-like - no_errors NUDT22 84304 genome.wustl.edu 36 11 63750947 63750947 + Missense_Mutation SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 11 63750947 63750947 G A SNP NUDT22 NM_032344 human genbank 54_36p +1 validated missense c.247 p.G83S 1.000 NULL NULL - no_errors EHD1 10938 genome.wustl.edu 36 11 64384146 64384146 + Silent SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 11 64384146 64384146 G A SNP EHD1 NM_006795 human genbank 54_36p -1 reviewed silent c.741 p.P247 0.811 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,superfamily_EF-hand,HMMSmart_SM00027,PatternScan_EF_HAND_1 - no_errors DYSF 8291 genome.wustl.edu 36 2 71654853 71654853 + Silent SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 2 71654853 71654853 G A SNP DYSF NM_003494 human genbank 54_36p +1 reviewed silent c.3192 p.A1064 0.042 NULL HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerA,HMMPfam_FerB,HMMSmart_SM00693,HMMSmart_SM00694 - no_errors GCNT4 51301 genome.wustl.edu 36 5 74361338 74361338 + Missense_Mutation SNP T T C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 5 74361338 74361338 T C SNP GCNT4 NM_016591 human genbank 54_36p -1 validated missense c.281 p.D94G 0.010 NULL HMMPfam_Branch - no_errors TRPM6 140803 genome.wustl.edu 36 9 76580754 76580754 + Missense_Mutation SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 9 76580754 76580754 G A SNP TRPM6 NM_017662 human genbank 54_36p -1 validated missense c.3268 p.R1090C 1.000 NULL HMMPfam_Ion_trans,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00811,HMMPfam_Alpha_kinase - no_errors SAMD9L 219285 genome.wustl.edu 36 7 92601431 92601431 + Missense_Mutation SNP C C G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 7 92601431 92601431 C G SNP SAMD9L NM_152703 human genbank 54_36p -1 validated missense c.1790 p.R597T 0.039 NULL superfamily_SAM/Pointed domain - no_errors IL1RL1 9173 genome.wustl.edu 36 2 102334562 102334562 + Missense_Mutation SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 2 102334562 102334562 G A SNP IL1RL1 NM_016232 human genbank 54_36p +1 reviewed missense c.1420 p.D474N 0.985 superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR - no_errors UBR5 51366 genome.wustl.edu 36 8 103386627 103386627 + Missense_Mutation SNP G G T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 8 103386627 103386627 G T SNP UBR5 NM_015902 human genbank 54_36p -1 reviewed missense c.2689 p.Q897K 1.000 NULL HMMPfam_zf-UBR,HMMSmart_ZnF_UBR1,superfamily_HECT,superfamily_PABP_HYD,HMMPfam_PABP,HMMSmart_PolyA,HMMSmart_HECTc,HMMPfam_HECT - no_errors ENSG00000211934 0 genome.wustl.edu 36 14 105523811 105523811 + Missense_Mutation SNP T A A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 14 105523811 105523811 T A SNP ENSG00000211934 ENST00000390594 human ensembl 54_36p -1 known missense c.256 p.R86W 0.017 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406 - no_stop_codon:bad_bp_length_for_coding_region MID2 11043 genome.wustl.edu 36 X 106971239 106971239 + Missense_Mutation SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 X 106971239 106971239 G A SNP MID2 NM_012216 human genbank 54_36p +1 reviewed missense c.628 p.A210T 1.000 HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMSmart_SM00336,HMMPfam_zf-B_box,superfamily_B-box zinc-binding domain,HMMSmart_SM00502,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_SPRY,HMMSmart_SM00449 - no_errors AMPD2 271 genome.wustl.edu 36 1 109970480 109970480 + Missense_Mutation SNP G G T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 1 109970480 109970480 G T SNP AMPD2 NM_004037 human genbank 54_36p +1 validated missense c.601 p.G201C 0.230 NULL superfamily_Metallo-dependent hydrolases,HMMPfam_A_deaminase,PatternScan_A_DEAMINASE - no_errors GPR6 2830 genome.wustl.edu 36 6 110407293 110407293 + Silent SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 6 110407293 110407293 G A SNP GPR6 NM_005284 human genbank 54_36p +1 validated silent c.285 p.A95 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LOC389141 389141 genome.wustl.edu 36 3 111884554 111884554 + RNA SNP G G C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 3 111884554 111884554 G C SNP LOC389141 XR_016945 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene LOC128322 128322 genome.wustl.edu 36 1 113092511 113092511 + Missense_Mutation SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 1 113092511 113092511 C T SNP LOC128322 XM_060943 human genbank 54_36p +1 model missense c.272 p.A91V 1.000 superfamily_NTF2-like,HMMPfam_NTF2 superfamily_NTF2-like,HMMPfam_NTF2,PatternScan_WD_REPEATS_1 - no_errors SLC9A10 285335 genome.wustl.edu 36 3 113409785 113409785 + Missense_Mutation SNP A A T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 3 113409785 113409785 A T SNP SLC9A10 NM_183061 human genbank 54_36p -1 validated missense c.1916 p.I639N 0.002 superfamily_Voltage-gated potassium channels HMMPfam_Na_H_Exchanger,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,PatternScan_WD_REPEATS_1,superfamily_cAMP-binding domain-like,HMMPfam_cNMP_binding - no_errors CCDC112 153733 genome.wustl.edu 36 5 114634980 114634980 + Silent SNP A A G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 5 114634980 114634980 A G SNP CCDC112 NM_001040440 human genbank 54_36p -1 validated silent c.1161 p.H387 0.723 NULL NULL - no_errors DSCAML1 57453 genome.wustl.edu 36 11 116807555 116807555 + Missense_Mutation SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 11 116807555 116807555 C T SNP DSCAML1 NM_020693 human genbank 54_36p -1 provisional missense c.5459 p.R1820H 0.999 NULL superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors TBCEL 219899 genome.wustl.edu 36 11 120423543 120423543 + Missense_Mutation SNP C C T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 11 120423543 120423543 C T SNP TBCEL NM_152715 human genbank 54_36p +1 validated missense c.230 p.S77L 0.984 superfamily_SSF52047 PatternScan_UBIQUITIN_1,superfamily_SSF52047,superfamily_SSF54236 - no_errors ADAMTS19 171019 genome.wustl.edu 36 5 129100707 129100707 + Missense_Mutation SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 5 129100707 129100707 G A SNP ADAMTS19 NM_133638 human genbank 54_36p +1 reviewed missense c.3521 p.R1174Q 0.884 HMMPfam_PLAC "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_PLAC" - no_errors LOC401010 401010 genome.wustl.edu 36 2 131918818 131918818 + RNA SNP A G G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 2 131918818 131918818 A G SNP LOC401010 NR_002826 human genbank 54_36p -1 validated rna NULL NULL 0.093 - - - pseudogene TMEM71 137835 genome.wustl.edu 36 8 133803529 133803529 + Missense_Mutation SNP G G C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 8 133803529 133803529 G C SNP TMEM71 NM_144649 human genbank 54_36p -1 validated missense c.634 p.Q212E 0.001 NULL NULL - no_errors GPR112 139378 genome.wustl.edu 36 X 135256297 135256297 + Missense_Mutation SNP T T G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 X 135256297 135256297 T G SNP GPR112 NM_153834 human genbank 54_36p +1 validated missense c.2766 p.S922R 0.008 NULL superfamily_ConA_like_lec_gl,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors GYPA 2993 genome.wustl.edu 36 4 145257532 145257532 + Silent SNP G G C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 4 145257532 145257532 G C SNP GYPA NM_002099 human genbank 54_36p -1 reviewed silent c.282 p.L94 0.001 HMMPfam_Glycophorin_A HMMPfam_Glycophorin_A,PatternScan_GLYCOPHORIN_A - no_errors AFF2 2334 genome.wustl.edu 36 X 147775157 147775157 + Silent SNP T T C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 X 147775157 147775157 T C SNP AFF2 NM_002025 human genbank 54_36p +1 validated silent c.1308 p.L436 0.998 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors ATF6 22926 genome.wustl.edu 36 1 160056091 160056091 + Missense_Mutation SNP A A T novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 1 160056091 160056091 A T SNP ATF6 NM_007348 human genbank 54_36p +1 validated missense c.954 p.E318D 1.000 HMMSmart_BRLZ,HMMPfam_bZIP_1,PatternScan_BZIP_BASIC HMMSmart_BRLZ,HMMPfam_bZIP_1,PatternScan_BZIP_BASIC - no_errors QSOX1 5768 genome.wustl.edu 36 1 178429970 178429970 + Splice_Site SNP G G C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 1 178429970 178429970 G C SNP QSOX1 NM_002826 human genbank 54_36p +1 reviewed splice_site c.1289-1 e11-1 0.168 - - - no_errors FAM5C 339479 genome.wustl.edu 36 1 188334280 188334280 + Missense_Mutation SNP G G A novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 1 188334280 188334280 G A SNP FAM5C NM_199051 human genbank 54_36p -1 provisional missense c.1792 p.R598W 1.000 NULL HMMPfam_MACPF,HMMSmart_SM00457 - no_errors ARID4B 51742 genome.wustl.edu 36 1 233464419 233464419 + Silent SNP A A C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 1 233464419 233464419 A C SNP ARID4B NM_016374 human genbank 54_36p -1 reviewed silent c.597 p.P199 1.000 HMMPfam_RBB1NT HMMSmart_SM00333,HMMPfam_RBB1NT,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501 - no_errors HEATR1 55127 genome.wustl.edu 36 1 234817933 234817933 + Missense_Mutation SNP C C G novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 1 234817933 234817933 C G SNP HEATR1 NM_018072 human genbank 54_36p -1 validated missense c.1564 p.V522L 0.939 NULL superfamily_ARM-type_fold,HMMPfam_HEAT,HMMPfam_BP28CT - no_errors C1orf101 257044 genome.wustl.edu 36 1 242821650 242821650 + Missense_Mutation SNP T T C novel unknown TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx c0e2ee16-f147-4b50-8efe-48f5303a1dee 23e88e28-f8a7-4d32-8b1e-0aad28fc8135 1 242821650 242821650 T C SNP C1orf101 NM_173807 human genbank 54_36p +1 validated missense c.2183 p.I728T 0.806 NULL NULL - no_errors