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 ZNF721 170960 genome.wustl.edu 36 4 428000 428000 + Missense_Mutation SNP G A A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 4 428000 428000 G A SNP ZNF721 NM_133474 human genbank 54_36p -1 validated missense c.256 p.R86C 0.613 superfamily_C2H2 and C2HC zinc fingers superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors FAM86A 196483 genome.wustl.edu 36 16 5083515 5083515 + Missense_Mutation SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 16 5083515 5083515 G A SNP FAM86A NM_201400 human genbank 54_36p -1 validated missense c.211 p.R71W 0.175 NULL superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_Methyltransf_16 - no_errors TRIM5 85363 genome.wustl.edu 36 11 5657591 5657591 + Silent SNP T T C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 11 5657591 5657591 T C SNP TRIM5 NM_033034 human genbank 54_36p -1 reviewed silent c.393 p.T131 0.514 HMMPfam_zf-B_box,HMMSmart_SM00336 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY,HMMSmart_SM00449 - no_errors CHD5 26038 genome.wustl.edu 36 1 6114280 6114280 + Missense_Mutation SNP T T A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 1 6114280 6114280 T A SNP CHD5 NM_015557 human genbank 54_36p -1 provisional missense c.3260 p.N1087I 0.999 superfamily_SSF52540,HMMSmart_HELICc,HMMPfam_Helicase_C PatternScan_CHROMO_1,HMMPfam_CHDNT,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,HMMSmart_RING,superfamily_Chromodomain-like,HMMSmart_CHROMO,superfamily_SSF52540,HMMPfam_Chromo,HMMSmart_DEXDc,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DUF1087,HMMPfam_DUF1086,HMMPfam_CHDCT2 - no_errors FAM64A 54478 genome.wustl.edu 36 17 6289191 6289191 + Missense_Mutation SNP C C A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 17 6289191 6289191 C A SNP FAM64A NM_019013 human genbank 54_36p +1 predicted missense c.37 p.R13S 0.018 HMMPfam_DUF1466 HMMPfam_DUF1466 - no_errors DCHS1 8642 genome.wustl.edu 36 11 6610387 6610387 + Missense_Mutation SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 11 6610387 6610387 G A SNP DCHS1 NM_003737 human genbank 54_36p -1 reviewed missense c.2932 p.R978C 1.000 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7519000 7519000 + Nonsense_Mutation SNP G A A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 17 7519000 7519000 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.574 p.Q192* 1.000 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 FBN3 84467 genome.wustl.edu 36 19 8066335 8066335 + Missense_Mutation SNP G G C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 19 8066335 8066335 G C SNP FBN3 NM_032447 human genbank 54_36p -1 reviewed missense c.5709 p.C1903W 0.996 superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_TB module/8-cys domain,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,HMMPfam_EGF,superfamily_Growth factor receptor domain - no_errors MC2R 4158 genome.wustl.edu 36 18 13874676 13874676 + Missense_Mutation SNP G G C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 18 13874676 13874676 G C SNP MC2R NM_000529 human genbank 54_36p -1 reviewed missense c.842 p.P281R 0.984 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 DNAH5 1767 genome.wustl.edu 36 5 13939208 13939208 + Missense_Mutation SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 5 13939208 13939208 G A SNP DNAH5 NM_001369 human genbank 54_36p -1 validated missense c.2608 p.H870Y 0.979 NULL HMMPfam_DHC_N1,superfamily_Spectrin,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors SSBP4 170463 genome.wustl.edu 36 19 18403826 18403826 + Silent SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 19 18403826 18403826 C T SNP SSBP4 NM_032627 human genbank 54_36p +1 validated silent c.582 p.G194 0.983 HMMPfam_SSDP HMMSmart_LisH,HMMPfam_SSDP - no_errors HS3ST2 9956 genome.wustl.edu 36 16 22833894 22833894 + Missense_Mutation SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 16 22833894 22833894 G A SNP HS3ST2 NM_006043 human genbank 54_36p +1 reviewed missense c.614 p.R205Q 1.000 superfamily_SSF52540,HMMPfam_Sulfotransfer_1 superfamily_SSF52540,HMMPfam_Sulfotransfer_1 - no_errors NEFM 4741 genome.wustl.edu 36 8 24827823 24827823 + Silent SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 8 24827823 24827823 C T SNP NEFM NM_005382 human genbank 54_36p +1 reviewed silent c.612 p.R204 1.000 HMMPfam_Filament HMMPfam_Filament_head,HMMPfam_Filament,PatternScan_IF - no_errors ZNF322A 79692 genome.wustl.edu 36 6 26746612 26746612 + Missense_Mutation SNP T T C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 6 26746612 26746612 T C SNP ZNF322A NM_024639 human genbank 54_36p -1 validated missense c.149 p.Q50R 0.996 superfamily_SSF57667,HMMSmart_ZnF_C2H2 superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZKSCAN4 387032 genome.wustl.edu 36 6 28322765 28322765 + Missense_Mutation SNP C C A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 6 28322765 28322765 C A SNP ZKSCAN4 NM_019110 human genbank 54_36p -1 provisional missense c.739 p.D247Y 0.009 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB HMMPfam_SCAN,HMMSmart_SCAN,superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors PRKD1 5587 genome.wustl.edu 36 14 29175262 29175262 + Missense_Mutation SNP G G C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 14 29175262 29175262 G C SNP PRKD1 NM_002742 human genbank 54_36p -1 validated missense c.1175 p.A392G 1.000 NULL superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors PCDH7 5099 genome.wustl.edu 36 4 30334459 30334459 + Missense_Mutation SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 4 30334459 30334459 G A SNP PCDH7 NM_032457 human genbank 54_36p +1 reviewed missense c.2176 p.D726N 1.000 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA HMMPfam_Cadherin_2,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMPfam_Protocadherin - no_errors ASXL1 171023 genome.wustl.edu 36 20 30486930 30486930 + Silent SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 20 30486930 30486930 C T SNP ASXL1 NM_015338 human genbank 54_36p +1 reviewed silent c.2754 p.H918 0.000 NULL NULL - no_errors BAT2 7916 genome.wustl.edu 36 6 31712040 31712040 + Silent SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 6 31712040 31712040 G A SNP BAT2 NM_080686 human genbank 54_36p +1 reviewed silent c.5700 p.Q1900 1.000 NULL HMMPfam_BAT2_N - no_errors LOC642305 642305 genome.wustl.edu 36 4 32689438 32689438 + RNA SNP T T C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 4 32689438 32689438 T C SNP LOC642305 XR_042368 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene uc001wtp.2 0 genome.wustl.edu 36 14 35910384 35910384 + Silent SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 14 35910384 35910384 G A SNP uc001wtp.2 ENST00000340350 human ensembl 54_36p +1 known silent c.15 p.Q5 0.000 NULL NULL - no_errors TGM5 9333 genome.wustl.edu 36 15 41314363 41314363 + Missense_Mutation SNP C C G novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 15 41314363 41314363 C G SNP TGM5 NM_201631 human genbank 54_36p -1 validated missense c.1771 p.D591H 0.994 superfamily_Transglutaminase two C-terminal domains,HMMPfam_Transglut_C superfamily_E set domains,HMMPfam_Transglut_N,superfamily_Cysteine proteinases,HMMSmart_SM00460,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglutaminase two C-terminal domains,HMMPfam_Transglut_C - no_errors TGM5 9333 genome.wustl.edu 36 15 41315306 41315306 + Missense_Mutation SNP A A C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 15 41315306 41315306 A C SNP TGM5 NM_201631 human genbank 54_36p -1 validated missense c.1367 p.V456G 0.752 superfamily_Cysteine proteinases HMMPfam_Transglut_N,HMMPfam_Transglut_core,HMMSmart_SM00460,HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains,PatternScan_TRANSGLUTAMINASES,superfamily_E set domains,superfamily_Cysteine proteinases - no_errors KPNB1 3837 genome.wustl.edu 36 17 43110730 43110730 + Missense_Mutation SNP T T C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 17 43110730 43110730 T C SNP KPNB1 NM_002265 human genbank 54_36p +1 reviewed missense c.2305 p.Y769H 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_IBN_N,HMMPfam_HEAT,HMMSmart_SM00185 - no_errors NNT 23530 genome.wustl.edu 36 5 43648975 43648975 + Silent SNP G G T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 5 43648975 43648975 G T SNP NNT NM_012343 human genbank 54_36p +1 reviewed silent c.360 p.L120 1.000 superfamily_SSF52283,HMMPfam_AlaDh_PNT_N superfamily_SSF52283,PatternScan_ALADH_PNT_1,HMMPfam_AlaDh_PNT_N,superfamily_NAD(P)-bd,HMMPfam_AlaDh_PNT_C,PatternScan_ALADH_PNT_2,HMMPfam_PNTB,superfamily_SSF52467 - no_errors CELSR1 9620 genome.wustl.edu 36 22 45166234 45166234 + Silent SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 22 45166234 45166234 G A SNP CELSR1 NM_014246 human genbank 54_36p -1 reviewed silent c.6108 p.C2036 0.992 superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_ASX_HYDROXYL,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2 - no_errors GPR110 266977 genome.wustl.edu 36 6 47096446 47096446 + Silent SNP C C A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 6 47096446 47096446 C A SNP GPR110 NM_153840 human genbank 54_36p -1 validated silent c.591 p.S197 0.340 superfamily_SEA domain,HMMPfam_SEA superfamily_SEA domain,HMMPfam_SEA,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2 - no_errors DEFB111 245914 genome.wustl.edu 36 6 50094655 50094655 + Silent SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 6 50094655 50094655 C T SNP DEFB111 NM_001037497 human genbank 54_36p -1 provisional silent c.198 p.Q66 0.003 NULL HMMPfam_Defensin_beta - no_errors PODN 127435 genome.wustl.edu 36 1 53308296 53308296 + Missense_Mutation SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 1 53308296 53308296 C T SNP PODN NM_153703 human genbank 54_36p +1 validated missense c.325 p.P109S 0.002 superfamily_SSF52058 superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,superfamily_SSF52047 - no_errors MMP2 4313 genome.wustl.edu 36 16 54089805 54089805 + Silent SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 16 54089805 54089805 C T SNP MMP2 NM_004530 human genbank 54_36p +1 reviewed silent c.1713 p.A571 0.891 superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX superfamily_PGBD_like,HMMPfam_PG_binding_1,PatternScan_CYSTEINE_SWITCH,superfamily_SSF55486,HMMSmart_ZnMc,HMMPfam_Peptidase_M10,superfamily_Kringle-like,HMMSmart_FN2,HMMPfam_fn2,PatternScan_FN2_1,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN - no_errors VSTM2A 222008 genome.wustl.edu 36 7 54579897 54579897 + Silent SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 7 54579897 54579897 G A SNP VSTM2A NM_182546 human genbank 54_36p +1 validated silent c.168 p.S56 0.929 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG - no_errors SCAF1 58506 genome.wustl.edu 36 19 54847778 54847778 + Missense_Mutation SNP G G T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 19 54847778 54847778 G T SNP SCAF1 NM_021228 human genbank 54_36p +1 provisional missense c.2320 p.D774Y 0.093 NULL NULL - no_errors USP32 84669 genome.wustl.edu 36 17 55613472 55613472 + Missense_Mutation SNP T T C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 17 55613472 55613472 T C SNP USP32 NM_032582 human genbank 54_36p -1 validated missense c.4543 p.I1515V 1.000 superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_2 superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,HMMSmart_DUSP,HMMPfam_DUF1055,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors KDR 3791 genome.wustl.edu 36 4 55658690 55658690 + Missense_Mutation SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 4 55658690 55658690 C T SNP KDR NM_002253 human genbank 54_36p -1 validated missense c.2510 p.G837D 1.000 superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR - no_errors MOS 4342 genome.wustl.edu 36 8 57188890 57188890 + Missense_Mutation SNP C C G novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 8 57188890 57188890 C G SNP MOS NM_005372 human genbank 54_36p -1 validated missense c.206 p.G69A 0.986 superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors DTX4 23220 genome.wustl.edu 36 11 58705868 58705868 + Missense_Mutation SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 11 58705868 58705868 G A SNP DTX4 NM_015177 human genbank 54_36p +1 validated missense c.292 p.D98N 1.000 HMMPfam_WWE,HMMSmart_SM00678 HMMPfam_WWE,HMMSmart_SM00678,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 - no_errors VPS13C 54832 genome.wustl.edu 36 15 59988609 59988609 + Missense_Mutation SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 15 59988609 59988609 C T SNP VPS13C NM_020821 human genbank 54_36p -1 validated missense c.8852 p.G2951D 0.954 HMMPfam_DUF1162 HMMPfam_DUF1162 - no_errors FIZ1 84922 genome.wustl.edu 36 19 60796625 60796625 + Missense_Mutation SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 19 60796625 60796625 C T SNP FIZ1 NM_032836 human genbank 54_36p -1 reviewed missense c.494 p.G165D 0.013 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_2FE2S_FER_1 - no_errors UBA6 55236 genome.wustl.edu 36 4 68183864 68183864 + Missense_Mutation SNP A A T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 4 68183864 68183864 A T SNP UBA6 NM_018227 human genbank 54_36p -1 validated missense c.1744 p.L582I 1.000 superfamily_Activating enzymes of the ubiquitin-like proteins,HMMPfam_ThiF superfamily_Activating enzymes of the ubiquitin-like proteins,HMMPfam_ThiF,HMMPfam_UBA_e1_thiolCys,HMMPfam_UBACT,HMMPfam_UBA_e1_C - no_errors ZNF638 27332 genome.wustl.edu 36 2 71508022 71508022 + Missense_Mutation SNP C C A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 2 71508022 71508022 C A SNP ZNF638 NM_001014972 human genbank 54_36p +1 reviewed missense c.5515 p.L1839I 0.981 NULL HMMSmart_SM00451,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors SMAP1 60682 genome.wustl.edu 36 6 71521477 71521477 + Missense_Mutation SNP C C G novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 6 71521477 71521477 C G SNP SMAP1 NM_001044305 human genbank 54_36p +1 reviewed missense c.326 p.P109R 1.000 superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105 superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105 - no_errors RHBDF2 79651 genome.wustl.edu 36 17 71987004 71987004 + Missense_Mutation SNP G A A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 17 71987004 71987004 G A SNP RHBDF2 ENST00000389762 human ensembl 54_36p -1 known missense c.148 p.H50Y 0.011 NULL HMMPfam_Rhomboid - no_start_codon LOXL3 84695 genome.wustl.edu 36 2 74617525 74617525 + Missense_Mutation SNP T T C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 2 74617525 74617525 T C SNP LOXL3 NM_032603 human genbank 54_36p -1 reviewed missense c.731 p.H244R 1.000 HMMSmart_SR,superfamily_Srcr_receptor,HMMPfam_SRCR superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Lysyl_oxidase,PatternScan_LYSYL_OXIDASE - no_errors TTC18 118491 genome.wustl.edu 36 10 74777968 74777968 + Silent SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 10 74777968 74777968 C T SNP TTC18 NM_145170 human genbank 54_36p -1 provisional silent c.381 p.L127 0.900 NULL HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1 - no_errors MYCBP2 23077 genome.wustl.edu 36 13 76523230 76523230 + Silent SNP A A G novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 13 76523230 76523230 A G SNP MYCBP2 NM_015057 human genbank 54_36p -1 validated silent c.13710 p.F4570 1.000 NULL superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,HMMPfam_PHR,superfamily_E set domains,superfamily_Galactose-binding domain-like,superfamily_RING/U-box,HMMSmart_SM00184 - no_errors MYO6 4646 genome.wustl.edu 36 6 76629104 76629104 + Missense_Mutation SNP G G T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 6 76629104 76629104 G T SNP MYO6 NM_004999 human genbank 54_36p +1 reviewed missense c.1618 p.D540Y 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ - no_errors LOC642585 0 genome.wustl.edu 36 X 80071819 80071819 + RNA SNP G A A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f X 80071819 80071819 G A SNP LOC642585 XR_038848 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene PAQR3 152559 genome.wustl.edu 36 4 80079343 80079343 + Nonsense_Mutation SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 4 80079343 80079343 C T SNP PAQR3 NM_001040202 human genbank 54_36p -1 validated nonsense c.60 p.W20* 1.000 NULL HMMPfam_HlyIII - no_errors CCDC81 60494 genome.wustl.edu 36 11 85797973 85797973 + Missense_Mutation SNP A A T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 11 85797973 85797973 A T SNP CCDC81 NM_021827 human genbank 54_36p +1 provisional missense c.866 p.E289V 0.989 NULL NULL - no_errors TGFBR3 7049 genome.wustl.edu 36 1 91921903 91921903 + Missense_Mutation SNP G G T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 1 91921903 91921903 G T SNP TGFBR3 NM_003243 human genbank 54_36p -1 validated missense c.2537 p.S846Y 1.000 NULL HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1 - no_errors TGFBR3 7049 genome.wustl.edu 36 1 91954804 91954804 + Missense_Mutation SNP C C G novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 1 91954804 91954804 C G SNP TGFBR3 NM_003243 human genbank 54_36p -1 validated missense c.1616 p.G539A 1.000 HMMPfam_Zona_pellucida,HMMSmart_ZP HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1 - no_errors CKAP4 10970 genome.wustl.edu 36 12 105165418 105165418 + Silent SNP G T T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 12 105165418 105165418 G T SNP CKAP4 NM_006825 human genbank 54_36p -1 validated silent c.342 p.L114 0.991 NULL NULL - no_errors DUS4L 11062 genome.wustl.edu 36 7 107005203 107005203 + Missense_Mutation SNP G G C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 7 107005203 107005203 G C SNP DUS4L NM_181581 human genbank 54_36p +1 validated missense c.916 p.A306P 1.000 superfamily_FMN-linked oxidoreductases,HMMPfam_Dus superfamily_FMN-linked oxidoreductases,HMMPfam_Dus,PatternScan_UPF0034 - no_errors PRPF38B 55119 genome.wustl.edu 36 1 109043838 109043838 + Missense_Mutation SNP G G C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 1 109043838 109043838 G C SNP PRPF38B NM_018061 human genbank 54_36p +1 validated missense c.1314 p.R438S 1.000 NULL HMMPfam_PRP38 - no_errors ADPRHL1 113622 genome.wustl.edu 36 13 113155616 113155616 + Silent SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 13 113155616 113155616 G A SNP ADPRHL1 NM_138430 human genbank 54_36p -1 validated silent c.138 p.L46 0.964 superfamily_ADP-ribosylglycohydrolase,HMMPfam_ADP_ribosyl_GH superfamily_ADP-ribosylglycohydrolase,HMMPfam_ADP_ribosyl_GH - no_errors SFXN4 119559 genome.wustl.edu 36 10 120910425 120910425 + Missense_Mutation SNP C C A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 10 120910425 120910425 C A SNP SFXN4 NM_213649 human genbank 54_36p -1 validated missense c.326 p.R109L 0.960 HMMPfam_Mtc HMMPfam_Mtc - no_errors GOLGB1 2804 genome.wustl.edu 36 3 122895677 122895677 + Missense_Mutation SNP A A C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 3 122895677 122895677 A C SNP GOLGB1 NM_004487 human genbank 54_36p -1 validated missense c.6368 p.L2123R 0.987 NULL superfamily_Spectrin repeat,superfamily_Prefoldin,HMMSmart_SM00340 - no_errors TR2IT1 645840 genome.wustl.edu 36 3 127773994 127773994 + Missense_Mutation SNP C C A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 3 127773994 127773994 C A SNP TR2IT1 NM_001039783 human genbank 54_36p -1 predicted missense c.83 p.R28L 0.000 NULL PatternScan_TUBULIN_B_AUTOREG - no_errors OPCML 4978 genome.wustl.edu 36 11 131904259 131904259 + Silent SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 11 131904259 131904259 G A SNP OPCML NM_002545 human genbank 54_36p -1 reviewed silent c.432 p.D144 0.983 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_I-set,HMMPfam_ig - no_errors B3GAT1 27087 genome.wustl.edu 36 11 133758077 133758077 + Missense_Mutation SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 11 133758077 133758077 C T SNP B3GAT1 NM_018644 human genbank 54_36p -1 reviewed missense c.655 p.V219I 0.800 superfamily_SSF53448,HMMPfam_Glyco_transf_43 superfamily_SSF53448,HMMPfam_Glyco_transf_43 - no_errors HBS1L 10767 genome.wustl.edu 36 6 135329196 135329196 + Silent SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 6 135329196 135329196 G A SNP HBS1L NM_006620 human genbank 54_36p -1 validated silent c.2007 p.Y669 0.999 HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain HMMPfam_DUF1916,superfamily_HBS1-like domain,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GTP_EFTU,superfamily_Translation proteins,HMMPfam_GTP_EFTU_D2,HMMPfam_GTP_EFTU_D3,superfamily_EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain - no_errors LOC392100 392100 genome.wustl.edu 36 7 136049854 136049854 + RNA SNP C C G novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 7 136049854 136049854 C G SNP LOC392100 XR_017485 human genbank 54_36p +1 model rna NULL NULL 0.996 - - - pseudogene SCRIB 23513 genome.wustl.edu 36 8 144967084 144967084 + Silent SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 8 144967084 144967084 G A SNP SCRIB NM_182706 human genbank 54_36p -1 validated silent c.678 p.D226 0.991 superfamily_RNI-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1 superfamily_RNI-like,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors MPP1 4354 genome.wustl.edu 36 X 153673252 153673252 + Missense_Mutation SNP A C C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f X 153673252 153673252 A C SNP MPP1 NM_002436 human genbank 54_36p -1 reviewed missense c.311 p.M104R 1.000 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin - no_errors RBM46 166863 genome.wustl.edu 36 4 155939585 155939585 + Missense_Mutation SNP C C G novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 4 155939585 155939585 C G SNP RBM46 NM_144979 human genbank 54_36p +1 validated missense c.821 p.A274G 1.000 superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 - no_errors HK3 3101 genome.wustl.edu 36 5 176249318 176249318 + Missense_Mutation SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 5 176249318 176249318 C T SNP HK3 NM_002115 human genbank 54_36p -1 reviewed missense c.664 p.D222N 1.000 superfamily_SSF53067,HMMPfam_Hexokinase_1 superfamily_SSF53067,HMMPfam_Hexokinase_1,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES - no_errors EIF4G1 1981 genome.wustl.edu 36 3 185522320 185522320 + Silent SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 3 185522320 185522320 C T SNP EIF4G1 NM_182917 human genbank 54_36p +1 reviewed silent c.1254 p.V418 0.999 NULL superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543,HMMPfam_MA3,HMMSmart_SM00544,HMMSmart_SM00515,HMMPfam_W2 - no_errors COL3A1 1281 genome.wustl.edu 36 2 189571257 189571257 + Silent SNP T T C novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 2 189571257 189571257 T C SNP COL3A1 NM_000090 human genbank 54_36p +1 reviewed silent c.1944 p.G648 1.000 HMMPfam_Collagen HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI - no_errors TRAF5 7188 genome.wustl.edu 36 1 209612412 209612412 + Silent SNP G G T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 1 209612412 209612412 G T SNP TRAF5 NM_001033910 human genbank 54_36p +1 reviewed silent c.1419 p.L473 0.999 superfamily_TRAF domain-like,HMMSmart_SM00061,HMMPfam_MATH superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_TRAF domain-like,HMMPfam_zf-TRAF,HMMSmart_SM00061,HMMPfam_MATH - no_errors MAP2 4133 genome.wustl.edu 36 2 210226152 210226152 + Missense_Mutation SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 2 210226152 210226152 C T SNP MAP2 NM_002374 human genbank 54_36p +1 reviewed missense c.13 p.R5W 0.964 NULL HMMPfam_RII_binding_1,HMMPfam_MAP2_projctn,HMMPfam_Tubulin-binding,PatternScan_TAU_MAP - no_errors LGALS8 3964 genome.wustl.edu 36 1 234774732 234774732 + Missense_Mutation SNP G G A novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 1 234774732 234774732 G A SNP LGALS8 NM_006499 human genbank 54_36p +1 reviewed missense c.824 p.R275H 1.000 superfamily_ConA_like_lec_gl,HMMSmart_GLECT,HMMPfam_Gal-bind_lectin superfamily_ConA_like_lec_gl,HMMSmart_GLECT,HMMPfam_Gal-bind_lectin - no_errors SH3BP5L 80851 genome.wustl.edu 36 1 247085658 247085658 + Missense_Mutation SNP C C T novel unknown TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e97a1340-6d99-400d-80c5-141096e642ac 3a2fc426-b531-4bb9-b517-b6bdeaa7d38f 1 247085658 247085658 C T SNP SH3BP5L NM_030645 human genbank 54_36p -1 provisional missense c.100 p.E34K 0.144 NULL HMMPfam_SH3BP5 - no_errors