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 ENSG00000210082 0 genome.wustl.edu 36 MT 2438 2438 + RNA SNP G A A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 MT 2438 2438 G A SNP ENSG00000210082 ENST00000387347 human ensembl 54_36p +1 known rna NULL NULL NULL - - - no_errors SNORD110 0 genome.wustl.edu 36 20 2582879 2582879 + RNA SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 20 2582879 2582879 C G SNP SNORD110 NR_003078 human genbank 54_36p +1 provisional rna NULL NULL 0.000 - - - no_errors SRRM2 23524 genome.wustl.edu 36 16 2753843 2753843 + Missense_Mutation SNP G G T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 16 2753843 2753843 G T SNP SRRM2 NM_016333 human genbank 54_36p +1 validated missense c.3313 p.V1105F 0.001 NULL HMMPfam_cwf21 - no_errors OR3A3 8392 genome.wustl.edu 36 17 3270889 3270889 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 17 3270889 3270889 G A SNP OR3A3 NM_012373 human genbank 54_36p +1 provisional missense c.278 p.R93H 0.000 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors EPB41L3 23136 genome.wustl.edu 36 18 5405930 5405930 + Missense_Mutation SNP A A G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 18 5405930 5405930 A G SNP EPB41L3 NM_012307 human genbank 54_36p -1 provisional missense c.1954 p.Y652H 0.998 NULL HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA,HMMPfam_SAB,HMMPfam_4_1_CTD - no_errors FBXO18 84893 genome.wustl.edu 36 10 6009467 6009467 + Missense_Mutation SNP T T G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 10 6009467 6009467 T G SNP FBXO18 NM_032807 human genbank 54_36p +1 reviewed missense c.2939 p.L980R 1.000 superfamily_SSF52540 superfamily_SSF81383,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF52540 - no_errors DCHS1 8642 genome.wustl.edu 36 11 6618160 6618160 + Missense_Mutation SNP T T G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 11 6618160 6618160 T G SNP DCHS1 NM_003737 human genbank 54_36p -1 reviewed missense c.1261 p.I421L 1.000 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1 - no_errors LOC100132467 0 genome.wustl.edu 36 9 6660110 6660110 + RNA SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 9 6660110 6660110 G A SNP LOC100132467 XR_039339 human genbank 54_36p -1 model rna NULL NULL 0.005 - - - pseudogene TP53 7157 genome.wustl.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 17 7518272 7518272 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245D 1.000 HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53 HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors SLC2A14 144195 genome.wustl.edu 36 12 7858362 7858362 + Silent SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 12 7858362 7858362 G A SNP SLC2A14 NM_153449 human genbank 54_36p -1 provisional silent c.1380 p.T460 0.011 superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1 - no_errors NLRP10 338322 genome.wustl.edu 36 11 7938119 7938119 + Missense_Mutation SNP G G T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 11 7938119 7938119 G T SNP NLRP10 NM_176821 human genbank 54_36p -1 reviewed missense c.1616 p.P539H 0.143 NULL superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,superfamily_SSF52540,HMMPfam_NACHT - no_errors PLCB1 23236 genome.wustl.edu 36 20 8637385 8637385 + Missense_Mutation SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 20 8637385 8637385 G C SNP PLCB1 NM_015192 human genbank 54_36p +1 reviewed missense c.1236 p.E412D 1.000 HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases superfamily_EF-hand,HMMPfam_efhand_like,HMMSmart_SM00148,HMMPfam_PI-PLC-X,superfamily_PLC-like phosphodiesterases,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_PLC-beta_C - no_errors ZNF121 7675 genome.wustl.edu 36 19 9538386 9538386 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 19 9538386 9538386 C G SNP ZNF121 NM_001008727 human genbank 54_36p -1 validated missense c.403 p.V135L 0.000 superfamily_SSF57667 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SCO1 6341 genome.wustl.edu 36 17 10536978 10536978 + Missense_Mutation SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 17 10536978 10536978 G C SNP SCO1 NM_004589 human genbank 54_36p -1 reviewed missense c.390 p.H130Q 0.005 superfamily_Thiordxn-like_fd superfamily_Thiordxn-like_fd,HMMPfam_SCO1-SenC - no_errors ZNF491 126069 genome.wustl.edu 36 19 11778874 11778874 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 19 11778874 11778874 C G SNP ZNF491 NM_152356 human genbank 54_36p +1 validated missense c.1106 p.S369C 0.000 superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors ZNF799 90576 genome.wustl.edu 36 19 12362999 12362999 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 19 12362999 12362999 G A SNP ZNF799 NM_001080821 human genbank 54_36p -1 validated missense c.1213 p.P405S 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,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors EGFL6 25975 genome.wustl.edu 36 X 13545776 13545776 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 13545776 13545776 C G SNP EGFL6 NM_015507 human genbank 54_36p +1 reviewed missense c.785 p.P262R 1.000 NULL superfamily_Growth factor receptor domain,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,superfamily_EGF/Laminin,HMMSmart_SM00137,HMMPfam_MAM - no_errors MACROD2 140733 genome.wustl.edu 36 20 15896271 15896271 + Silent SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 20 15896271 15896271 C G SNP MACROD2 NM_080676 human genbank 54_36p +1 validated silent c.981 p.P327 0.000 NULL superfamily_SSF52949,HMMSmart_A1pp,HMMPfam_Macro - no_errors MAP3K15 389840 genome.wustl.edu 36 X 19320095 19320095 + Missense_Mutation SNP A A T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 19320095 19320095 A T SNP MAP3K15 NM_001001671 human genbank 54_36p -1 validated missense c.802 p.F268I 1.000 HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SAM_homology - no_errors IGLV10-54 0 genome.wustl.edu 36 22 20899547 20899547 + Missense_Mutation SNP A A C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 22 20899547 20899547 A C SNP IGLV10-54 ENST00000390287 human ensembl 54_36p +1 known missense c.239 p.E80A 0.001 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406 - no_stop_codon:bad_bp_length_for_coding_region KRT18P40 390904 genome.wustl.edu 36 19 20936163 20936163 + RNA SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 19 20936163 20936163 G C SNP KRT18P40 XR_017288 human genbank 54_36p +1 model rna NULL NULL 0.704 - - - pseudogene EIF4G3 8672 genome.wustl.edu 36 1 21092665 21092665 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 21092665 21092665 G A SNP EIF4G3 NM_003760 human genbank 54_36p -1 validated nonsense c.2017 p.R673* 1.000 NULL superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543,HMMPfam_MA3,HMMSmart_SM00544,superfamily_PH domain-like,HMMSmart_SM00515,HMMPfam_W2 - no_errors USP48 84196 genome.wustl.edu 36 1 21956748 21956748 + Missense_Mutation SNP T T C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 21956748 21956748 T C SNP USP48 NM_032236 human genbank 54_36p -1 reviewed missense c.250 p.K84E 1.000 superfamily_Cysteine proteinases superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_Ubiquitin-like - no_errors CNR2 1269 genome.wustl.edu 36 1 24074470 24074470 + Silent SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 24074470 24074470 G A SNP CNR2 NM_001841 human genbank 54_36p -1 reviewed silent c.225 p.S75 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors CACNG3 10368 genome.wustl.edu 36 16 24280566 24280566 + Missense_Mutation SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 16 24280566 24280566 G C SNP CACNG3 NM_006539 human genbank 54_36p +1 reviewed missense c.829 p.G277R 1.000 NULL HMMPfam_PMP22_Claudin - no_errors DSG3 1830 genome.wustl.edu 36 18 27300616 27300616 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 18 27300616 27300616 G A SNP DSG3 NM_001944 human genbank 54_36p +1 reviewed missense c.1537 p.A513T 0.001 superfamily_Cadherin HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin,PatternScan_CADHERIN_1 - no_errors DSG3 1830 genome.wustl.edu 36 18 27306244 27306244 + Splice_Site SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 18 27306244 27306244 G C SNP DSG3 NM_001944 human genbank 54_36p +1 reviewed splice_site c.1898-1 e13-1 0.998 - - - no_errors C8orf80 389643 genome.wustl.edu 36 8 27954512 27954512 + Missense_Mutation SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 8 27954512 27954512 C T SNP C8orf80 NM_001010906 human genbank 54_36p -1 predicted missense c.1586 p.R529H 0.775 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors OR5V1 81696 genome.wustl.edu 36 6 29431128 29431128 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 6 29431128 29431128 G A SNP OR5V1 NM_030876 human genbank 54_36p -1 validated missense c.824 p.S275L 0.001 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 OR11A1 26531 genome.wustl.edu 36 6 29503321 29503321 + Missense_Mutation SNP T T C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 6 29503321 29503321 T C SNP OR11A1 NM_013937 human genbank 54_36p -1 provisional missense c.77 p.H26R 0.939 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 ADAMTS12 81792 genome.wustl.edu 36 5 33612657 33612657 + Missense_Mutation SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 5 33612657 33612657 G C SNP ADAMTS12 NM_030955 human genbank 54_36p -1 reviewed missense c.3231 p.S1077R 0.001 NULL "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 CTNNBL1 56259 genome.wustl.edu 36 20 35864712 35864712 + Missense_Mutation SNP T T A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 20 35864712 35864712 T A SNP CTNNBL1 NM_030877 human genbank 54_36p +1 reviewed missense c.1061 p.L354Q 1.000 superfamily_ARM repeat HMMPfam_DUF1716,superfamily_ARM repeat - no_errors KRT27 342574 genome.wustl.edu 36 17 36187372 36187372 + Missense_Mutation SNP A A G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 17 36187372 36187372 A G SNP KRT27 NM_181537 human genbank 54_36p -1 validated missense c.1111 p.Y371H 1.000 HMMPfam_Filament HMMPfam_Filament - no_errors FAM47C 442444 genome.wustl.edu 36 X 36937157 36937157 + Silent SNP C C A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 36937157 36937157 C A SNP FAM47C NM_001013736 human genbank 54_36p +1 provisional silent c.753 p.P251 0.002 NULL NULL - no_errors USP9X 8239 genome.wustl.edu 36 X 40875677 40875677 + Missense_Mutation SNP T T G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 40875677 40875677 T G SNP USP9X NM_001039590 human genbank 54_36p +1 reviewed missense c.266 p.L89W 1.000 NULL superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors HIVEP3 59269 genome.wustl.edu 36 1 41820379 41820379 + Missense_Mutation SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 41820379 41820379 G C SNP HIVEP3 NM_024503 human genbank 54_36p -1 validated missense c.2677 p.L893V 0.994 NULL PatternScan_AIPM_HOMOCIT_SYNTH_1,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers - no_errors MYST3 7994 genome.wustl.edu 36 8 41910634 41910634 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 8 41910634 41910634 C G SNP MYST3 NM_001099412 human genbank 54_36p -1 validated missense c.4261 p.D1421H 1.000 NULL HMMSmart_H15,superfamily_SSF46785,HMMSmart_PHD,HMMPfam_PHD,HMMSmart_RING,PatternScan_ZF_PHD_1,superfamily_FYVE_PHD_ZnF,superfamily_Acyl_CoA_acyltransferase,HMMPfam_MOZ_SAS - no_errors C1orf84 149469 genome.wustl.edu 36 1 43660824 43660824 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 43660824 43660824 C G SNP C1orf84 ENST00000406439 human ensembl 54_36p +1 known missense c.1856 p.S619C 1.000 NULL NULL - no_errors ACTN4 81 genome.wustl.edu 36 19 43892770 43892770 + Missense_Mutation SNP C C A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 19 43892770 43892770 C A SNP ACTN4 NM_004924 human genbank 54_36p +1 reviewed missense c.767 p.A256D 1.000 superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_efhand_Ca_insen - no_errors ITGA3 3675 genome.wustl.edu 36 17 45508692 45508692 + Missense_Mutation SNP A A C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 17 45508692 45508692 A C SNP ITGA3 NM_005501 human genbank 54_36p +1 reviewed missense c.1678 p.N560H 0.999 HMMPfam_Integrin_alpha2,superfamily_Integrin domains superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains - no_errors MYO5B 4645 genome.wustl.edu 36 18 45820580 45820580 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 18 45820580 45820580 G A SNP MYO5B NM_001080467 human genbank 54_36p -1 provisional missense c.241 p.H81Y 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,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_DIL - no_errors CXXC1 30827 genome.wustl.edu 36 18 46064140 46064140 + Missense_Mutation SNP C C A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 18 46064140 46064140 C A SNP CXXC1 NM_001101654 human genbank 54_36p -1 validated missense c.1469 p.C490F 1.000 NULL superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMPfam_zf-CXXC - no_errors PRKAR2A 5576 genome.wustl.edu 36 3 48803040 48803040 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 3 48803040 48803040 G A SNP PRKAR2A NM_004157 human genbank 54_36p -1 reviewed nonsense c.376 p.Q126* 1.000 superfamily_cNMP_binding superfamily_cAMP-dep_prot_kin_reg_I/II_a/b,HMMPfam_RIIa,HMMSmart_RIIa,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2 - no_errors FSHR 2492 genome.wustl.edu 36 2 49098204 49098204 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 2 49098204 49098204 C G SNP FSHR NM_000145 human genbank 54_36p -1 reviewed missense c.302 p.R101T 1.000 superfamily_L domain-like superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors DGKK 139189 genome.wustl.edu 36 X 50160849 50160849 + Missense_Mutation SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 50160849 50160849 G C SNP DGKK ENST00000376025 human ensembl 54_36p -1 known missense c.1337 p.S446C 0.992 superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045 - no_errors ENSG00000213861 0 genome.wustl.edu 36 19 55254964 55254964 + Silent SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 19 55254964 55254964 C T SNP ENSG00000213861 ENST00000396607 human ensembl 54_36p -1 known silent c.387 p.G129 0.957 superfamily_SSF57667 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_start_codon OR8H3 390152 genome.wustl.edu 36 11 55647031 55647031 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 11 55647031 55647031 G A SNP OR8H3 NM_001005201 human genbank 54_36p +1 provisional missense c.607 p.A203T 0.185 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors RP1 6101 genome.wustl.edu 36 8 55700568 55700568 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 8 55700568 55700568 C G SNP RP1 ENST00000220676 human ensembl 54_36p +1 known missense c.1573 p.Q525E 0.000 NULL superfamily_SSF89837,HMMSmart_DCX,HMMPfam_DCX - no_errors B4GALNT1 2583 genome.wustl.edu 36 12 56308287 56308287 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 12 56308287 56308287 G A SNP B4GALNT1 NM_001478 human genbank 54_36p -1 reviewed missense c.1028 p.A343V 1.000 superfamily_SSF53448,HMMPfam_Glycos_transf_2 superfamily_SSF53448,HMMPfam_Glycos_transf_2 - no_errors PRKCG 5582 genome.wustl.edu 36 19 59099808 59099808 + Silent SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 19 59099808 59099808 G A SNP PRKCG NM_002739 human genbank 54_36p +1 reviewed silent c.1764 p.G588 1.000 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C - no_errors NLRP4 147945 genome.wustl.edu 36 19 61061734 61061734 + Missense_Mutation SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 19 61061734 61061734 C T SNP NLRP4 NM_134444 human genbank 54_36p +1 validated missense c.1163 p.P388L 0.002 NULL superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368 - no_errors ZSCAN5A 79149 genome.wustl.edu 36 19 61425891 61425891 + Missense_Mutation SNP T T A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 19 61425891 61425891 T A SNP ZSCAN5A NM_024303 human genbank 54_36p -1 provisional missense c.620 p.D207V 0.000 NULL HMMPfam_SCAN,HMMSmart_SCAN,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SNX1 6642 genome.wustl.edu 36 15 62215592 62215592 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 15 62215592 62215592 G A SNP SNX1 NM_003099 human genbank 54_36p +1 reviewed missense c.1376 p.R459Q 0.961 HMMPfam_Vps5 HMMPfam_Sorting_nexin,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMPfam_Vps5 - no_errors DIS3L 115752 genome.wustl.edu 36 15 64402210 64402210 + Missense_Mutation SNP T T A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 15 64402210 64402210 T A SNP DIS3L NM_133375 human genbank 54_36p +1 validated missense c.1209 p.D403E 0.997 HMMPfam_RNB HMMPfam_RNB,PatternScan_RIBONUCLEASE_II - no_errors ESRP2 80004 genome.wustl.edu 36 16 66823362 66823362 + Silent SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 16 66823362 66823362 C G SNP ESRP2 NM_024939 human genbank 54_36p -1 validated silent c.1143 p.L381 1.000 HMMSmart_RRM,superfamily_SSF54928 superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 - no_errors GPR142 350383 genome.wustl.edu 36 17 69877293 69877293 + Missense_Mutation SNP G A A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 17 69877293 69877293 G A SNP GPR142 NM_181790 human genbank 54_36p +1 provisional missense c.335 p.R112Q 0.000 NULL superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors MAP3K9 4293 genome.wustl.edu 36 14 70337290 70337290 + Missense_Mutation SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 14 70337290 70337290 C T SNP MAP3K9 NM_033141 human genbank 54_36p -1 validated missense c.667 p.A223T 1.000 superfamily_Kinase_like,HMMSmart_TyrKc,HMMPfam_Pkinase superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_Kinase_like,HMMSmart_TyrKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors ACRC 93953 genome.wustl.edu 36 X 70740710 70740710 + Silent SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 70740710 70740710 C T SNP ACRC NM_052957 human genbank 54_36p +1 validated silent c.858 p.D286 0.003 NULL HMMPfam_SprT-like,HMMSmart_SM00731 - no_errors LLGL2 3993 genome.wustl.edu 36 17 71081261 71081261 + Missense_Mutation SNP C T T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 17 71081261 71081261 C T SNP LLGL2 NM_001031803 human genbank 54_36p +1 reviewed missense c.2830 p.R944C 0.002 NULL HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_LLGL,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors MUC7 4589 genome.wustl.edu 36 4 71381221 71381221 + Silent SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 4 71381221 71381221 G A SNP MUC7 NM_152291 human genbank 54_36p +1 reviewed silent c.171 p.P57 0.000 NULL NULL - no_errors CLEC18B 0 genome.wustl.edu 36 16 73002259 73002259 + Missense_Mutation SNP T T C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 16 73002259 73002259 T C SNP CLEC18B ENST00000268492 human ensembl 54_36p -1 known missense c.17 p.D6G 0.000 NULL HMMPfam_Lectin_C,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1 - no_start_codon TRPA1 8989 genome.wustl.edu 36 8 73097894 73097894 + Missense_Mutation SNP A A G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 8 73097894 73097894 A G SNP TRPA1 NM_007332 human genbank 54_36p -1 reviewed missense c.3161 p.L1054P 0.910 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_EF_HAND_1,HMMPfam_Ion_trans - no_errors P4HA3 283208 genome.wustl.edu 36 11 73686959 73686959 + Silent SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 11 73686959 73686959 C T SNP P4HA3 NM_182904 human genbank 54_36p -1 reviewed silent c.663 p.E221 1.000 superfamily_TPR-like HMMPfam_P4Ha_N,superfamily_TPR-like,HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy - no_errors KIAA2022 340533 genome.wustl.edu 36 X 73876886 73876886 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 73876886 73876886 C G SNP KIAA2022 NM_001008537 human genbank 54_36p -1 validated missense c.4231 p.G1411R 0.979 NULL NULL - no_errors CD109 135228 genome.wustl.edu 36 6 74574677 74574677 + Missense_Mutation SNP A A G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 6 74574677 74574677 A G SNP CD109 NM_133493 human genbank 54_36p +1 validated missense c.3340 p.R1114G 0.996 superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp HMMPfam_A2M_N,HMMPfam_A2M_N_2,HMMPfam_A2M,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_A2M_comp,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_recep - no_errors CRISPLD1 83690 genome.wustl.edu 36 8 76104182 76104182 + Silent SNP C C A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 8 76104182 76104182 C A SNP CRISPLD1 NM_031461 human genbank 54_36p +1 validated silent c.1326 p.S442 0.997 superfamily_LCCL domain,HMMSmart_SM00603,HMMPfam_LCCL superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP,PatternScan_CRISP_2,superfamily_LCCL domain,HMMSmart_SM00603,HMMPfam_LCCL - no_errors LRRIQ1 84125 genome.wustl.edu 36 12 83962640 83962640 + Silent SNP A A G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 12 83962640 83962640 A G SNP LRRIQ1 NM_001079910 human genbank 54_36p +1 validated silent c.258 p.G86 0.020 NULL superfamily_RNI-like,HMMSmart_SM00015,HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors SNAP91 9892 genome.wustl.edu 36 6 84327371 84327371 + Silent SNP A A T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 6 84327371 84327371 A T SNP SNAP91 NM_014841 human genbank 54_36p -1 validated silent c.2457 p.P819 1.000 NULL superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273,superfamily_GAT-like domain - no_errors NTRK2 4915 genome.wustl.edu 36 9 86532398 86532398 + Missense_Mutation SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 9 86532398 86532398 C T SNP NTRK2 NM_006180 human genbank 54_36p +1 reviewed missense c.863 p.T288I 0.993 superfamily_SSF48726 superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRRCT,HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IGc2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II - no_errors ATP6V0D2 245972 genome.wustl.edu 36 8 87231528 87231528 + Silent SNP A A G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 8 87231528 87231528 A G SNP ATP6V0D2 NM_152565 human genbank 54_36p +1 validated silent c.711 p.R237 1.000 superfamily_ATPase_V0/A0_c/d,HMMPfam_vATP-synt_AC39 superfamily_ATPase_V0/A0_c/d,HMMPfam_vATP-synt_AC39 - no_errors MESP2 145873 genome.wustl.edu 36 15 88121123 88121123 + Silent SNP G A A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 15 88121123 88121123 G A SNP MESP2 NM_001039958 human genbank 54_36p +1 reviewed silent c.531 p.A177 0.865 NULL superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353 - no_errors RNGTT 8732 genome.wustl.edu 36 6 89610806 89610806 + Missense_Mutation SNP T T G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 6 89610806 89610806 T G SNP RNGTT NM_003800 human genbank 54_36p -1 validated missense c.1258 p.T420P 0.999 superfamily_DNA ligase/mRNA capping enzyme catalytic domain,HMMPfam_mRNA_cap_enzyme superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,PatternScan_TYR_PHOSPHATASE_1,superfamily_DNA ligase/mRNA capping enzyme catalytic domain,HMMPfam_mRNA_cap_enzyme,HMMPfam_mRNA_cap_C,superfamily_Nucleic acid-binding proteins - no_errors SV2B 9899 genome.wustl.edu 36 15 89612790 89612790 + Missense_Mutation SNP T T C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 15 89612790 89612790 T C SNP SV2B NM_014848 human genbank 54_36p +1 validated missense c.1324 p.F442L 1.000 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 - no_errors LOC100133304 0 genome.wustl.edu 36 9 91210331 91210331 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 9 91210331 91210331 C G SNP LOC100133304 XM_001716330 human genbank 54_36p -1 model missense c.385 p.D129H 0.000 NULL NULL - no_errors COL1A2 1278 genome.wustl.edu 36 7 93885780 93885780 + Missense_Mutation SNP C C A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 7 93885780 93885780 C A SNP COL1A2 NM_000089 human genbank 54_36p +1 reviewed missense c.2005 p.P669T 0.027 HMMPfam_Collagen HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI - no_errors RPA4 29935 genome.wustl.edu 36 X 96026213 96026213 + Missense_Mutation SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 96026213 96026213 C T SNP RPA4 NM_013347 human genbank 54_36p +1 reviewed missense c.248 p.A83V 0.000 superfamily_Nucleic_acid_OB,HMMPfam_tRNA_anti superfamily_Nucleic_acid_OB,HMMPfam_tRNA_anti,HMMPfam_RPA_C,superfamily_SSF46785 - no_errors AGL 178 genome.wustl.edu 36 1 100119322 100119322 + Splice_Site SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 100119322 100119322 G C SNP AGL NM_000028 human genbank 54_36p +1 validated splice_site c.2001+1 e14+1 1.000 - - - no_errors DYNC1H1 1778 genome.wustl.edu 36 14 101569173 101569173 + Missense_Mutation SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 14 101569173 101569173 G C SNP DYNC1H1 NM_001376 human genbank 54_36p +1 reviewed missense c.10098 p.K3366N 1.000 NULL HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors DYNC2H1 79659 genome.wustl.edu 36 11 102659003 102659003 + Silent SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 11 102659003 102659003 C T SNP DYNC2H1 NM_001080463 human genbank 54_36p +1 provisional silent c.10890 p.S3630 0.998 HMMPfam_Dynein_heavy HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors COL11A1 1301 genome.wustl.edu 36 1 103117852 103117852 + Missense_Mutation SNP A A C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 103117852 103117852 A C SNP COL11A1 NM_080629 human genbank 54_36p -1 reviewed missense c.5285 p.I1762S 1.000 HMMSmart_COLFI,HMMPfam_COLFI HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI - no_errors UBR5 51366 genome.wustl.edu 36 8 103367988 103367988 + Missense_Mutation SNP T T C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 8 103367988 103367988 T C SNP UBR5 NM_015902 human genbank 54_36p -1 reviewed missense c.4991 p.D1664G 1.000 NULL HMMPfam_zf-UBR,HMMSmart_ZnF_UBR1,superfamily_HECT,superfamily_PABP_HYD,HMMPfam_PABP,HMMSmart_PolyA,HMMSmart_HECTc,HMMPfam_HECT - no_errors NHEDC1 150159 genome.wustl.edu 36 4 104087388 104087388 + Silent SNP T T C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 4 104087388 104087388 T C SNP NHEDC1 NM_139173 human genbank 54_36p -1 reviewed silent c.390 p.L130 1.000 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger - no_errors TEX13A 56157 genome.wustl.edu 36 X 104351379 104351379 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 104351379 104351379 G A SNP TEX13A ENST00000255513 human ensembl 54_36p -1 known missense c.359 p.T120M 0.000 NULL superfamily_Znf265 first zinc-finger domain,HMMPfam_zf-RanBP,PatternScan_ZF_RANBP2_1 - no_errors TEX13A 56157 genome.wustl.edu 36 X 104351449 104351449 + Missense_Mutation SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 104351449 104351449 C T SNP TEX13A ENST00000255513 human ensembl 54_36p -1 known missense c.289 p.A97T 0.035 NULL HMMPfam_zf-RanBP,PatternScan_ZF_RANBP2_1,superfamily_Znf265 first zinc-finger domain - no_errors LAMB1 3912 genome.wustl.edu 36 7 107413710 107413710 + Missense_Mutation SNP C C A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 7 107413710 107413710 C A SNP LAMB1 NM_002291 human genbank 54_36p -1 reviewed missense c.669 p.R223S 1.000 HMMSmart_SM00136,HMMPfam_Laminin_N HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_Prefoldin - no_errors COL4A5 1287 genome.wustl.edu 36 X 107810834 107810834 + Missense_Mutation SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 107810834 107810834 G C SNP COL4A5 NM_033380 human genbank 54_36p +1 reviewed missense c.4079 p.G1360A 0.965 HMMPfam_Collagen HMMPfam_Collagen,superfamily_C-type_lectin_fold,HMMPfam_C4,HMMSmart_C4 - no_errors EPS8L3 79574 genome.wustl.edu 36 1 110096175 110096175 + Missense_Mutation SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 110096175 110096175 G C SNP EPS8L3 NM_139053 human genbank 54_36p -1 reviewed missense c.1402 p.R468G 0.996 superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 HMMPfam_PTB,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 - no_errors AHCYL1 10768 genome.wustl.edu 36 1 110363711 110363711 + Missense_Mutation SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 110363711 110363711 C T SNP AHCYL1 NM_006621 human genbank 54_36p +1 validated missense c.1405 p.L469F 1.000 superfamily_Formate/glycerate dehydrogenase catalytic domain-like,HMMPfam_AdoHcyase superfamily_Formate/glycerate dehydrogenase catalytic domain-like,HMMPfam_AdoHcyase,PatternScan_ADOHCYASE_1,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_AdoHcyase_NAD,PatternScan_ADOHCYASE_2 - no_errors C12orf30 80018 genome.wustl.edu 36 12 110994157 110994157 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 12 110994157 110994157 G A SNP C12orf30 NM_024953 human genbank 54_36p -1 validated nonsense c.961 p.R321* 1.000 superfamily_TPR-like,HMMPfam_NatB_MDM20 superfamily_TPR-like,HMMPfam_NatB_MDM20 - no_errors LOC285412 285412 genome.wustl.edu 36 4 113597588 113597588 + RNA SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 4 113597588 113597588 C G SNP LOC285412 XR_017405 human genbank 54_36p +1 model rna NULL NULL 0.006 - - - pseudogene ZDHHC23 254887 genome.wustl.edu 36 3 115150403 115150403 + Missense_Mutation SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 3 115150403 115150403 C T SNP ZDHHC23 NM_173570 human genbank 54_36p +1 validated missense c.64 p.P22S 1.000 NULL HMMPfam_zf-DHHC - no_errors GOPC 57120 genome.wustl.edu 36 6 118006772 118006772 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 6 118006772 118006772 G A SNP GOPC NM_020399 human genbank 54_36p -1 validated missense c.434 p.T145I 1.000 NULL superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,PatternScan_RCC1_2 - no_errors DMXL1 1657 genome.wustl.edu 36 5 118528135 118528135 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 5 118528135 118528135 C G SNP DMXL1 NM_005509 human genbank 54_36p +1 validated missense c.4737 p.H1579Q 0.994 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_SUBTILASE_ASP,PatternScan_WD_REPEATS_1 - no_errors GRIK4 2900 genome.wustl.edu 36 11 120338511 120338511 + Missense_Mutation SNP T T A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 11 120338511 120338511 T A SNP GRIK4 NM_014619 human genbank 54_36p +1 reviewed missense c.2177 p.M726K 1.000 HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors C4orf31 79625 genome.wustl.edu 36 4 122186319 122186319 + Missense_Mutation SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 4 122186319 122186319 C T SNP C4orf31 NM_024574 human genbank 54_36p -1 validated missense c.124 p.D42N 1.000 NULL superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_DUF2369 - no_errors TRPC3 7222 genome.wustl.edu 36 4 123073185 123073185 + Silent SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 4 123073185 123073185 G A SNP TRPC3 NM_003305 human genbank 54_36p -1 validated silent c.459 p.D153 1.000 superfamily_ANK superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_TRP_2,HMMPfam_Ion_trans - no_errors DMBT1 1755 genome.wustl.edu 36 10 124349652 124349652 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 10 124349652 124349652 C G SNP DMBT1 ENST00000398134 human ensembl 54_36p +1 known missense c.2694 p.H898Q 0.001 NULL superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR,PatternScan_SRCR_1,superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB,HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1 - no_errors MBNL3 55796 genome.wustl.edu 36 X 131352774 131352774 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 131352774 131352774 G A SNP MBNL3 NM_018388 human genbank 54_36p -1 provisional missense c.553 p.R185C 1.000 superfamily_CCCH zinc finger,HMMSmart_SM00356,HMMPfam_zf-CCCH HMMSmart_SM00356,HMMPfam_zf-CCCH,superfamily_CCCH zinc finger - no_errors PLXNA4 91584 genome.wustl.edu 36 7 131480456 131480456 + Silent SNP A A T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 7 131480456 131480456 A T SNP PLXNA4 NM_020911 human genbank 54_36p -1 validated silent c.5187 p.I1729 0.988 HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP - no_errors PCDH10 57575 genome.wustl.edu 36 4 134303649 134303649 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 4 134303649 134303649 G A SNP PCDH10 NM_032961 human genbank 54_36p +1 reviewed missense c.2865 p.M955I 1.000 NULL HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin,PatternScan_EGF_1 - no_errors GPR112 139378 genome.wustl.edu 36 X 135309867 135309867 + Missense_Mutation SNP T T G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 135309867 135309867 T G SNP GPR112 NM_153834 human genbank 54_36p +1 validated missense c.8501 p.M2834R 1.000 HMMPfam_7tm_2 superfamily_ConA_like_lec_gl,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors FAM13B 51306 genome.wustl.edu 36 5 137303872 137303872 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 5 137303872 137303872 C G SNP FAM13B NM_016603 human genbank 54_36p -1 validated missense c.2689 p.A897P 1.000 NULL superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP - no_errors IFNGR1 3459 genome.wustl.edu 36 6 137561356 137561356 + Silent SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 6 137561356 137561356 C T SNP IFNGR1 NM_000416 human genbank 54_36p -1 reviewed silent c.975 p.P325 0.000 HMMPfam_IFNGR1 HMMPfam_IFNGR1,superfamily_Fibronectin type III - no_errors STAG1 10274 genome.wustl.edu 36 3 137675074 137675074 + Missense_Mutation SNP G G T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 3 137675074 137675074 G T SNP STAG1 NM_005862 human genbank 54_36p -1 reviewed missense c.1122 p.F374L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,HMMPfam_STAG - no_errors THSD7B 80731 genome.wustl.edu 36 2 138094737 138094737 + Missense_Mutation SNP C C A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 2 138094737 138094737 C A SNP THSD7B NM_001080427 human genbank 54_36p +1 provisional missense c.3683 p.T1228K 0.998 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1 - no_errors PCDHGB2 56103 genome.wustl.edu 36 5 140720543 140720543 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 5 140720543 140720543 C G SNP PCDHGB2 NM_018923 human genbank 54_36p +1 reviewed missense c.657 p.D219E 0.002 superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors PCDHGB3 56102 genome.wustl.edu 36 5 140730914 140730914 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 5 140730914 140730914 G A SNP PCDHGB3 NM_018924 human genbank 54_36p +1 reviewed missense c.769 p.A257T 0.000 superfamily_Cadherin-like,HMMPfam_Cadherin HMMSmart_SM00112,superfamily_Cadherin-like,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors LOC257039 257039 genome.wustl.edu 36 3 145057448 145057448 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 3 145057448 145057448 C G SNP LOC257039 XM_172230 human genbank 54_36p -1 model missense c.492 p.E164D 1.000 HMMPfam_Ribosomal_S17e HMMPfam_Ribosomal_S17e - no_errors CUL1 8454 genome.wustl.edu 36 7 148117844 148117844 + Missense_Mutation SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 7 148117844 148117844 C T SNP CUL1 NM_003592 human genbank 54_36p +1 validated missense c.1667 p.P556L 1.000 HMMPfam_Cullin,superfamily_Cullin homology domain,HMMSmart_SM00182 "superfamily_Cullin repeat,HMMPfam_Cullin,superfamily_Cullin homology domain,HMMSmart_SM00182,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Cullin_Nedd8,PatternScan_CULLIN_1" - no_errors NR3C2 4306 genome.wustl.edu 36 4 149254777 149254777 + Silent SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 4 149254777 149254777 C T SNP NR3C2 NM_000901 human genbank 54_36p -1 validated silent c.2727 p.K909 1.000 superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep HMMSmart_ZnF_C4,HMMPfam_zf-C4,superfamily_SSF57716,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Str_ncl_receptor,HMMSmart_HOLI,HMMPfam_Hormone_recep - no_errors VMA21 203547 genome.wustl.edu 36 X 150322818 150322818 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 150322818 150322818 G A SNP VMA21 NM_001017980 human genbank 54_36p +1 provisional missense c.111 p.M37I 1.000 HMMPfam_VMA21 HMMPfam_VMA21 - no_errors SLC4A2 6522 genome.wustl.edu 36 7 150402733 150402733 + Silent SNP A A T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 7 150402733 150402733 A T SNP SLC4A2 NM_003040 human genbank 54_36p +1 validated silent c.2919 p.P973 0.004 HMMPfam_HCO3_cotransp superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp,PatternScan_ANION_EXCHANGER_1,PatternScan_ANION_EXCHANGER_2 - no_errors FLG 2312 genome.wustl.edu 36 1 150552495 150552495 + Missense_Mutation SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 150552495 150552495 G C SNP FLG NM_002016 human genbank 54_36p -1 provisional missense c.1491 p.H497Q 0.000 NULL superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin - no_errors FCRL2 79368 genome.wustl.edu 36 1 156003359 156003359 + Missense_Mutation SNP T T A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 156003359 156003359 T A SNP FCRL2 NM_138738 human genbank 54_36p -1 validated missense c.430 p.M144L 0.000 NULL superfamily_Immunoglobulin - no_errors AIM2 9447 genome.wustl.edu 36 1 157304983 157304983 + Missense_Mutation SNP T T A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 157304983 157304983 T A SNP AIM2 NM_004833 human genbank 54_36p -1 reviewed missense c.395 p.K132M 0.051 NULL superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_HIN - no_errors ITGB6 3694 genome.wustl.edu 36 2 160702858 160702858 + Missense_Mutation SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 2 160702858 160702858 G C SNP ITGB6 NM_000888 human genbank 54_36p -1 provisional missense c.1206 p.H402Q 0.441 HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_Integrin domains HMMSmart_SM00423,HMMPfam_Integrin_beta,HMMSmart_SM00187,superfamily_Integrin domains,superfamily_vWA-like,PatternScan_EGF_1,superfamily_EGF/Laminin,HMMPfam_EGF_2,PatternScan_INTEGRIN_BETA,PatternScan_EGF_2,superfamily_Integrin beta tail domain,HMMPfam_Integrin_B_tail,HMMPfam_Integrin_b_cyt - no_errors LOC646085 646085 genome.wustl.edu 36 3 162530195 162530195 + RNA SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 3 162530195 162530195 C T SNP LOC646085 XR_017630 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene FIGN 55137 genome.wustl.edu 36 2 164175267 164175267 + Missense_Mutation SNP G G T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 2 164175267 164175267 G T SNP FIGN NM_018086 human genbank 54_36p -1 validated missense c.1321 p.P441T 0.998 NULL superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,PatternScan_AAA - no_errors SCN3A 6328 genome.wustl.edu 36 2 165705699 165705699 + Missense_Mutation SNP C C A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 2 165705699 165705699 C A SNP SCN3A NM_006922 human genbank 54_36p -1 reviewed missense c.1727 p.S576I 1.000 NULL superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ - no_errors DDX60 55601 genome.wustl.edu 36 4 169420438 169420438 + Missense_Mutation SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 4 169420438 169420438 G C SNP DDX60 NM_017631 human genbank 54_36p -1 validated missense c.3115 p.Q1039E 0.024 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors DOCK2 1794 genome.wustl.edu 36 5 169438586 169438586 + Missense_Mutation SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 5 169438586 169438586 C T SNP DOCK2 NM_004946 human genbank 54_36p +1 validated missense c.5024 p.T1675M 0.551 NULL superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Cytochrome c - no_errors ASTN1 460 genome.wustl.edu 36 1 175100126 175100126 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 175100126 175100126 G A SNP ASTN1 NM_004319 human genbank 54_36p -1 validated missense c.3802 p.L1268F 1.000 NULL HMMSmart_EGF,HMMSmart_MACPF,superfamily_FN_III-like,HMMSmart_FN3 - no_errors SNCB 6620 genome.wustl.edu 36 5 175986345 175986345 + Missense_Mutation SNP C C G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 5 175986345 175986345 C G SNP SNCB NM_001001502 human genbank 54_36p -1 reviewed missense c.145 p.V49L 1.000 HMMPfam_Synuclein HMMPfam_Synuclein - no_errors HMCN1 83872 genome.wustl.edu 36 1 184361418 184361418 + Missense_Mutation SNP A A C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 184361418 184361418 A C SNP HMCN1 NM_031935 human genbank 54_36p +1 reviewed missense c.12559 p.I4187L 0.007 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408 superfamily_vWA-like,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,HMMPfam_I-set,HMMSmart_SM00406,PatternScan_CECROPIN,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00682,HMMPfam_G2F,superfamily_GFP-like,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_EGF_CA,PatternScan_EGF_2 - no_errors MCF2L2 23101 genome.wustl.edu 36 3 184424654 184424654 + Missense_Mutation SNP A A C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 3 184424654 184424654 A C SNP MCF2L2 NM_015078 human genbank 54_36p -1 validated missense c.2134 p.Y712D 0.999 superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325 HMMSmart_SM00516,superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors TPR 7175 genome.wustl.edu 36 1 184554333 184554333 + Silent SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 184554333 184554333 G A SNP TPR NM_003292 human genbank 54_36p -1 reviewed silent c.6690 p.T2230 0.932 NULL superfamily_Prefoldin,HMMPfam_TPR_MLP1_2 - no_errors WDR53 348793 genome.wustl.edu 36 3 197772650 197772650 + Missense_Mutation SNP C C T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 3 197772650 197772650 C T SNP WDR53 NM_182627 human genbank 54_36p -1 provisional missense c.94 p.D32N 0.955 HMMSmart_SM00320,superfamily_WD40 repeat-like HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors PIK3C2B 5287 genome.wustl.edu 36 1 202669661 202669661 + Silent SNP A A G novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 202669661 202669661 A G SNP PIK3C2B NM_002646 human genbank 54_36p -1 reviewed silent c.3726 p.Y1242 1.000 superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146 superfamily_Ubiquitin-like,HMMPfam_PI3K_rbd,HMMSmart_SM00144,HMMSmart_SM00142,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PI3K_C2,superfamily_ARM repeat,HMMSmart_SM00145,HMMPfam_PI3Ka,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMSmart_SM00239,HMMPfam_C2 - no_errors DUSP5P 574029 genome.wustl.edu 36 1 226852867 226852867 + RNA SNP G G C novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 226852867 226852867 G C SNP DUSP5P NR_002834 human genbank 54_36p +1 provisional rna NULL NULL 0.997 - - - pseudogene TARBP1 6894 genome.wustl.edu 36 1 232680543 232680543 + Missense_Mutation SNP G T T novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 232680543 232680543 G T SNP TARBP1 NM_005646 human genbank 54_36p -1 reviewed missense c.930 p.N310K 0.291 NULL superfamily_ARM-type_fold,superfamily_SSF75217,HMMPfam_SpoU_methylase - no_errors RYR2 6262 genome.wustl.edu 36 1 235820663 235820663 + Missense_Mutation SNP G G A novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 1 235820663 235820663 G A SNP RYR2 NM_001035 human genbank 54_36p +1 reviewed missense c.3908 p.R1303H 0.877 NULL HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans - no_errors ALLC 55821 genome.wustl.edu 36 2 3727027 3727029 + In_Frame_Del DEL GAA GAA - novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 GAA GAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 2 3727027 3727029 GAA - DEL ALLC NM_018436 human genbank 54_36p +1 validated in_frame_del c.901_903 p.E303in_frame_del 0.866:0.921:0.929 superfamily_Gal_bind_like,HMMPfam_Allantoicase superfamily_Gal_bind_like,HMMPfam_Allantoicase (deletion:cds_exon[3726977,3727101]) no_errors ELAVL3 1995 genome.wustl.edu 36 19 11430102 11430125 + Splice_Site DEL CTGCCAGGGGGCAGGGATGTCCAT CTGCCAGGGGGCAGGGATGTCCAT - novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 CTGCCAGGGGGCAGGGATGTCCAT CTGCCAGGGGGCAGGGATGTCCAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 19 11430102 11430125 CTGCCAGGGGGCAGGGATGTCCAT - DEL ELAVL3 NM_001420 human genbank 54_36p -1 reviewed splice_site_del c.488-24_488-1 e5-1 1.000:1.000:0.998:0.245:0.027:0.000:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.002:0.025:0.046:0.000:0.000:0.001:0.001:0.001:0.001:0.000:0.000 - - (deletion:intron[11430102,11430272]) no_errors CTPS2 56474 genome.wustl.edu 36 X 16626379 16626403 + Frame_Shift_Del DEL AACTGTAGAAAGAAGTATTAATACA AACTGTAGAAAGAAGTATTAATACA - novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 AACTGTAGAAAGAAGTATTAATACA AACTGTAGAAAGAAGTATTAATACA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 X 16626379 16626403 AACTGTAGAAAGAAGTATTAATACA - DEL CTPS2 NM_019857 human genbank 54_36p -1 reviewed frame_shift_del c.339_338 p.V113fs 0.999:1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_CTP_synth_N superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_CTP_synth_N,superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase (deletion:cds_exon[16626280,16626380], intron[16626381,16626966]) no_errors ENSG00000196306 0 genome.wustl.edu 36 6 29963560 29963565 + In_Frame_Del DEL CCCTGA CCCTGA - novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 CCCTGA CCCTGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 6 29963560 29963565 CCCTGA - DEL ENSG00000196306 ENST00000360432 human ensembl 54_36p +1 known in_frame_del c.53_58 p.LT21in_frame_del 0.006:0.005:0.008:0.010:0.007:0.004 NULL HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC,HMMPfam_MHC_I_C (deletion:cds_exon[29963508,29963586]) no_errors RALY 22913 genome.wustl.edu 36 20 32128525 32128526 + In_Frame_Ins INS - - CAG novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 20 32128525 32128526 - CAG INS RALY NM_016732 human genbank 54_36p +1 reviewed in_frame_ins c.689_690 p.231in_frame_insS 0.001:0.002 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors CARD10 29775 genome.wustl.edu 36 22 36236255 36236260 + In_Frame_Del DEL CTCCTT CTCCTT - novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 CTCCTT CTCCTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 22 36236255 36236260 CTCCTT - DEL CARD10 NM_014550 human genbank 54_36p -1 reviewed in_frame_del c.819_814 p.KE272in_frame_del 0.883:0.892:0.901:0.911:0.921:0.932 NULL superfamily_DEATH_like,HMMPfam_CARD,superfamily_SSF52540 (deletion:cds_exon[36236165,36236374]) no_errors TTBK1 84630 genome.wustl.edu 36 6 43358704 43358706 + In_Frame_Del DEL GAA GAA - novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 GAA GAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 6 43358704 43358706 GAA - DEL TTBK1 NM_032538 human genbank 54_36p +1 validated in_frame_del c.2248_2250 p.E753in_frame_del 0.944:0.724:0.281 NULL superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP (deletion:cds_exon[43358443,43360028]) no_errors MOAP1 64112 genome.wustl.edu 36 14 92719878 92719894 + Frame_Shift_Del DEL GCTGAAGAGCCTCTAAT GCTGAAGAGCCTCTAAT - novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 GCTGAAGAGCCTCTAAT GCTGAAGAGCCTCTAAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 14 92719878 92719894 GCTGAAGAGCCTCTAAT - DEL MOAP1 NM_022151 human genbank 54_36p -1 reviewed frame_shift_del c.463_447 p.L150fs 0.967:0.967:0.962:0.918:0.885:0.811:0.641:0.007:0.005:0.002:0.000:0.000:0.001:0.003:0.267:0.282:0.347 NULL NULL (deletion:cds_exon[92719285,92720340]) no_errors ZAN 7455 genome.wustl.edu 36 7 100223498 100223532 + Frame_Shift_Del DEL GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT - novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 7 100223498 100223532 GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT - DEL ZAN ENST00000349350 human ensembl 54_36p +1 known frame_shift_del c.7028_7062 p.F2344fs 0.088:0.076:0.047:0.031:0.008:0.004:0.007:0.317:0.790:0.908:0.967:0.964:0.963:0.997:1.000:0.999:0.997:0.968:0.891:0.954:1.000:1.000:1.000:0.999:0.998:0.998:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.990:0.736 HMMSmart_SM00216,HMMPfam_VWD HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_Serine proterase inhibitors,HMMPfam_TIL,PatternScan_EGF_2,HMMSmart_SM00215,HMMPfam_TIL_assoc,HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,HMMSmart_SM00181,HMMSmart_SM00214,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_EGF_1 (deletion:cds_exon[100223447,100223694]) no_errors GOT1 2805 genome.wustl.edu 36 10 101170481 101170499 + Frame_Shift_Del DEL CATTAGCAATCTTCTGCTC CATTAGCAATCTTCTGCTC - novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 CATTAGCAATCTTCTGCTC CATTAGCAATCTTCTGCTC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 10 101170481 101170499 CATTAGCAATCTTCTGCTC - DEL GOT1 NM_002079 human genbank 54_36p -1 reviewed frame_shift_del c.190_172 p.E58fs 0.893:0.005:0.024:0.031:0.067:0.984:0.997:0.995:1.000:1.000:1.000:0.998:0.994:0.996:1.000:1.000:1.000:1.000:1.000 superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2 superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2,PatternScan_AA_TRANSFER_CLASS_1 (deletion:cds_exon[101170371,101170552]) no_errors ATM 472 genome.wustl.edu 36 11 107683908 107683928 + Frame_Shift_Del DEL AGAAGACAAAAGAGGTAATGT AGAAGACAAAAGAGGTAATGT - novel unknown TCGA-61-1727-01A-01W-0639-09 TCGA-61-1727-11A-01W-0639-09 AGAAGACAAAAGAGGTAATGT AGAAGACAAAAGAGGTAATGT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx a937f182-b6f2-4c03-acec-95f76d7bf20c 98704722-7d91-4cee-a64f-cdf4de6c0658 11 107683908 107683928 AGAAGACAAAAGAGGTAATGT - DEL ATM NM_000051 human genbank 54_36p +1 reviewed frame_shift_del c.5749_5762 p.R1917fs 1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_FAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC (deletion:cds_exon[107683834,107683921], intron[107683922,107686096]) no_errors