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 2708 2708 + RNA SNP G G A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 MT 2708 2708 G A SNP ENSG00000210082 ENST00000387347 human ensembl 54_36p +1 known rna NULL NULL NULL - - - no_errors MT-CO1 4512 genome.wustl.edu 36 MT 6777 6777 + Silent SNP T T C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 MT 6777 6777 T C SNP MT-CO1 ENST00000361624 human ensembl 54_36p +1 known silent c.873 p.H291 NULL superfamily_Cytochrome c oxidase subunit I-like,HMMPfam_COX1,PatternScan_COX1_CUB superfamily_Cytochrome c oxidase subunit I-like,HMMPfam_COX1,PatternScan_COX1_CUB - no_stop_codon MT-CO1 4512 genome.wustl.edu 36 MT 7029 7029 + Silent SNP T T C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 MT 7029 7029 T C SNP MT-CO1 ENST00000361624 human ensembl 54_36p +1 known silent c.1125 p.A375 NULL HMMPfam_COX1,superfamily_Cytochrome c oxidase subunit I-like HMMPfam_COX1,PatternScan_COX1_CUB,superfamily_Cytochrome c oxidase subunit I-like - no_stop_codon MT-CO3 4514 genome.wustl.edu 36 MT 9707 9707 + Missense_Mutation SNP T T C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 MT 9707 9707 T C SNP MT-CO3 ENST00000362079 human ensembl 54_36p +1 known missense c.500 p.I167T NULL superfamily_CytC_oxdse_III,HMMPfam_COX3 superfamily_CytC_oxdse_III,HMMPfam_COX3 - no_stop_codon:bad_bp_length_for_coding_region MT-ND4 4538 genome.wustl.edu 36 MT 11720 11720 + Silent SNP A A G novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 MT 11720 11720 A G SNP MT-ND4 ENST00000361381 human ensembl 54_36p +1 known silent c.960 p.G320 NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1 - no_stop_codon:bad_bp_length_for_coding_region MT-ND5 4540 genome.wustl.edu 36 MT 13405 13405 + Silent SNP T T C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 MT 13405 13405 T C SNP MT-ND5 ENST00000361567 human ensembl 54_36p +1 known silent c.1068 p.I356 NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C - no_errors MT-ND5 4540 genome.wustl.edu 36 MT 14126 14126 + Silent SNP C C T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 MT 14126 14126 C T SNP MT-ND5 ENST00000361567 human ensembl 54_36p +1 known silent c.1789 p.L597 NULL HMMPfam_NADH5_C HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C - no_errors MT-CYB 4519 genome.wustl.edu 36 MT 14767 14767 + Missense_Mutation SNP T T C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 MT 14767 14767 T C SNP MT-CYB ENST00000361789 human ensembl 54_36p +1 known missense c.20 p.I7T NULL superfamily_Transmembr_di-haem_cytochrome superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N,HMMPfam_Cytochrom_B_C,superfamily_Cytochrome_b/b6_C - no_stop_codon:bad_bp_length_for_coding_region CLCN7 1186 genome.wustl.edu 36 16 1447738 1447738 + Silent SNP G G A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 16 1447738 1447738 G A SNP CLCN7 NM_001287 human genbank 54_36p -1 reviewed silent c.696 p.S232 0.344 superfamily_Cl-channel_core,HMMPfam_Voltage_CLC superfamily_Cl-channel_core,HMMPfam_Voltage_CLC,HMMPfam_CBS,HMMSmart_CBS,superfamily_SSF54631 - no_errors MYOM2 9172 genome.wustl.edu 36 8 1987747 1987747 + Missense_Mutation SNP T T A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 8 1987747 1987747 T A SNP MYOM2 NM_003970 human genbank 54_36p +1 validated missense c.172 p.S58T 0.109 NULL superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMPfam_ig,HMMSmart_IGc2 - no_errors C20orf194 25943 genome.wustl.edu 36 20 3277236 3277236 + Missense_Mutation SNP A A C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 20 3277236 3277236 A C SNP C20orf194 NM_001009984 human genbank 54_36p -1 validated missense c.725 p.F242C 1.000 NULL PatternScan_ZINC_FINGER_C2H2_1 - no_errors ADCY9 115 genome.wustl.edu 36 16 4104239 4104239 + Silent SNP G G C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 16 4104239 4104239 G C SNP ADCY9 NM_001116 human genbank 54_36p -1 reviewed silent c.1206 p.G402 0.994 HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7514725 7514725 + Nonsense_Mutation SNP C A A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 17 7514725 7514725 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.1027 p.E343* 0.805 HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors GRM7 2917 genome.wustl.edu 36 3 7595823 7595823 + Silent SNP A A C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 3 7595823 7595823 A C SNP GRM7 NM_181874 human genbank 54_36p +1 reviewed silent c.2230 p.R744 1.000 HMMPfam_7tm_3 superfamily_SSF53822,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3 - no_errors GDF3 9573 genome.wustl.edu 36 12 7734136 7734136 + Missense_Mutation SNP G G T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 12 7734136 7734136 G T SNP GDF3 NM_020634 human genbank 54_36p -1 reviewed missense c.700 p.L234M 1.000 NULL superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1 - no_errors ZNF700 90592 genome.wustl.edu 36 19 11921471 11921471 + Silent SNP C C G novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 19 11921471 11921471 C G SNP ZNF700 NM_144566 human genbank 54_36p +1 provisional silent c.1632 p.A544 0.684 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZNF834 0 genome.wustl.edu 36 21 13390660 13390660 + Missense_Mutation SNP C C A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 21 13390660 13390660 C A SNP ZNF834 ENST00000305570 human ensembl 54_36p -1 known missense c.1052 p.R351I 0.038 superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_start_codon CD97 976 genome.wustl.edu 36 19 14368970 14368970 + Missense_Mutation SNP G G A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 19 14368970 14368970 G A SNP CD97 NM_078481 human genbank 54_36p +1 reviewed missense c.560 p.R187H 0.031 HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL HMMSmart_SM00181,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors SREBF1 6720 genome.wustl.edu 36 17 17663093 17663093 + Missense_Mutation SNP T T C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 17 17663093 17663093 T C SNP SREBF1 NM_001005291 human genbank 54_36p -1 reviewed missense c.1117 p.I373V 1.000 superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH - no_errors LOC727980 727980 genome.wustl.edu 36 14 18925290 18925290 + RNA SNP G G A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 14 18925290 18925290 G A SNP LOC727980 XR_036910 human genbank 54_36p +1 model rna NULL NULL 0.086 - - - pseudogene LOC100129842 0 genome.wustl.edu 36 19 20540312 20540312 + RNA SNP C C A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 19 20540312 20540312 C A SNP LOC100129842 XR_042310 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - no_errors PINK1 65018 genome.wustl.edu 36 1 20843727 20843727 + Silent SNP C A A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 1 20843727 20843727 C A SNP PINK1 NM_032409 human genbank 54_36p +1 reviewed silent c.934 p.R312 0.993 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST - no_errors NCRNA00153 55857 genome.wustl.edu 36 20 21091060 21091060 + Silent SNP G G A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 20 21091060 21091060 G A SNP NCRNA00153 ENST00000246027 human ensembl 54_36p +1 known silent c.954 p.P318 0.002 NULL NULL - no_errors C12orf39 80763 genome.wustl.edu 36 12 21573205 21573205 + Missense_Mutation SNP G G C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 12 21573205 21573205 G C SNP C12orf39 NM_030572 human genbank 54_36p +1 predicted missense c.212 p.R71T 1.000 NULL NULL - no_errors RAPGEF5 9771 genome.wustl.edu 36 7 22131751 22131751 + Silent SNP C C T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 7 22131751 22131751 C T SNP RAPGEF5 NM_012294 human genbank 54_36p -1 validated silent c.2073 p.Q691 1.000 superfamily_Ras GEF,HMMSmart_SM00147 "superfamily_""Winged helix"" DNA-binding domain,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF" - no_errors GPR158 57512 genome.wustl.edu 36 10 25927343 25927343 + Missense_Mutation SNP C C T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 10 25927343 25927343 C T SNP GPR158 NM_020752 human genbank 54_36p +1 validated missense c.2782 p.R928C 0.011 NULL PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,HMMPfam_7tm_3 - no_errors MASTL 84930 genome.wustl.edu 36 10 27494373 27494373 + Missense_Mutation SNP C C T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 10 27494373 27494373 C T SNP MASTL NM_032844 human genbank 54_36p +1 validated missense c.710 p.A237V 0.014 superfamily_Kinase_like superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X - no_errors HIST1H4K 8362 genome.wustl.edu 36 6 27907017 27907017 + Missense_Mutation SNP C C T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 6 27907017 27907017 C T SNP HIST1H4K NM_003541 human genbank 54_36p -1 reviewed missense c.268 p.A90T 1.000 superfamily_Histone-fold,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803 superfamily_Histone-fold,PatternScan_HISTONE_H4,HMMSmart_SM00417,HMMPfam_Histone,HMMSmart_SM00803 - no_errors EWSR1 2130 genome.wustl.edu 36 22 28018506 28018506 + Missense_Mutation SNP G G A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 22 28018506 28018506 G A SNP EWSR1 NM_005243 human genbank 54_36p +1 reviewed missense c.1075 p.D359N 1.000 superfamily_RNA-binding domain RBD HMMPfam_SVS_QK,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Znf265 first zinc-finger domain,HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1 - no_errors C22orf30 253143 genome.wustl.edu 36 22 30443269 30443269 + Missense_Mutation SNP C A A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 22 30443269 30443269 C A SNP C22orf30 ENST00000327423 human ensembl 54_36p -1 known missense c.556 p.V186L 1.000 NULL NULL - no_errors CCL15 6359 genome.wustl.edu 36 17 31352628 31352628 + Missense_Mutation SNP G G A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 17 31352628 31352628 G A SNP CCL15 NM_032965 human genbank 54_36p -1 reviewed missense c.17 p.A6V 0.039 NULL superfamily_Chemokine_IL8,HMMPfam_IL8,HMMSmart_SCY,PatternScan_SMALL_CYTOKINES_CC - no_errors LY6G6F 259215 genome.wustl.edu 36 6 31783329 31783329 + Silent SNP C A A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 6 31783329 31783329 C A SNP LY6G6F NM_001003693 human genbank 54_36p +1 provisional silent c.168 p.G56 0.116 superfamily_Immunoglobulin,HMMSmart_SM00409 superfamily_Immunoglobulin,HMMSmart_SM00409 - no_errors PDZD2 23037 genome.wustl.edu 36 5 32019017 32019017 + Splice_Site SNP G G T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 5 32019017 32019017 G T SNP PDZD2 NM_178140 human genbank 54_36p +1 reviewed splice_site c.477-1 e2-1 1.000 - - - no_errors SON 6651 genome.wustl.edu 36 21 33837290 33837290 + Missense_Mutation SNP A A C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 21 33837290 33837290 A C SNP SON NM_138927 human genbank 54_36p +1 reviewed missense c.22 p.I8L 1.000 NULL HMMSmart_SM00443,HMMPfam_G-patch,superfamily_dsRNA-binding domain-like,HMMPfam_dsrm - no_errors LOC100130041 0 genome.wustl.edu 36 16 34581895 34581895 + RNA SNP T T G novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 16 34581895 34581895 T G SNP LOC100130041 XR_037947 human genbank 54_36p +1 model rna NULL NULL 0.998 - - - pseudogene KRT9 3857 genome.wustl.edu 36 17 36978286 36978286 + Missense_Mutation SNP C G G novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 17 36978286 36978286 C G SNP KRT9 NM_000226 human genbank 54_36p -1 reviewed missense c.1170 p.K390N 1.000 HMMPfam_Filament HMMPfam_Filament,PatternScan_IF - no_errors ALG10B 144245 genome.wustl.edu 36 12 37000565 37000565 + Missense_Mutation SNP G G C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 12 37000565 37000565 G C SNP ALG10B NM_001013620 human genbank 54_36p +1 validated missense c.705 p.Q235H 0.180 HMMPfam_DIE2_ALG10 HMMPfam_DIE2_ALG10 - no_errors DDX17 10521 genome.wustl.edu 36 22 37225406 37225406 + Missense_Mutation SNP C C G novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 22 37225406 37225406 C G SNP DDX17 NM_001098504 human genbank 54_36p -1 reviewed missense c.483 p.R161S 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors RPGR 6103 genome.wustl.edu 36 X 38029978 38029978 + Missense_Mutation SNP C C G novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 X 38029978 38029978 C G SNP RPGR NM_001034853 human genbank 54_36p -1 reviewed missense c.3218 p.G1073A 0.014 NULL superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1 - no_errors CHD6 84181 genome.wustl.edu 36 20 39483108 39483108 + Nonsense_Mutation SNP G G A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 20 39483108 39483108 G A SNP CHD6 NM_032221 human genbank 54_36p -1 reviewed nonsense c.5581 p.Q1861* 1.000 NULL superfamily_Chromo domain-like,HMMSmart_SM00298,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_SM00592 - no_errors TMEM62 80021 genome.wustl.edu 36 15 41226051 41226051 + Nonsense_Mutation SNP C C A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 15 41226051 41226051 C A SNP TMEM62 NM_024956 human genbank 54_36p +1 provisional nonsense c.545 p.S182* 1.000 superfamily_SSF56300 superfamily_SSF56300 - no_errors EPB42 2038 genome.wustl.edu 36 15 41288264 41288264 + Silent SNP C C A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 15 41288264 41288264 C A SNP EPB42 NM_000119 human genbank 54_36p -1 reviewed silent c.924 p.V308 0.998 superfamily_SSF54001,HMMSmart_TGc,PatternScan_TRANSGLUTAMINASES,HMMPfam_Transglut_core superfamily_Ig_E-set,HMMPfam_Transglut_N,superfamily_SSF54001,HMMSmart_TGc,PatternScan_TRANSGLUTAMINASES,HMMPfam_Transglut_core,superfamily_Transglut_C,HMMPfam_Transglut_C - no_errors ZNF345 25850 genome.wustl.edu 36 19 42060704 42060704 + Missense_Mutation SNP G G T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 19 42060704 42060704 G T SNP ZNF345 NM_003419 human genbank 54_36p +1 provisional missense c.1132 p.A378S 0.107 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SLC24A5 283652 genome.wustl.edu 36 15 46201474 46201474 + Missense_Mutation SNP T T A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 15 46201474 46201474 T A SNP SLC24A5 NM_205850 human genbank 54_36p +1 reviewed missense c.250 p.S84T 0.988 HMMPfam_Na_Ca_ex HMMPfam_Na_Ca_ex - no_errors CCR3 1232 genome.wustl.edu 36 3 46282414 46282414 + Missense_Mutation SNP C C A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 3 46282414 46282414 C A SNP CCR3 NM_001837 human genbank 54_36p +1 reviewed missense c.761 p.P254H 0.998 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors COL2A1 1280 genome.wustl.edu 36 12 46656105 46656105 + Missense_Mutation SNP C C T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 12 46656105 46656105 C T SNP COL2A1 NM_001844 human genbank 54_36p -1 reviewed missense c.3505 p.V1169I 0.998 HMMPfam_Collagen HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI - no_errors KCNG1 3755 genome.wustl.edu 36 20 49060280 49060280 + Missense_Mutation SNP C C T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 20 49060280 49060280 C T SNP KCNG1 NM_002237 human genbank 54_36p -1 reviewed missense c.3 p.M1I 1.000 NULL superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors BSN 8927 genome.wustl.edu 36 3 49674458 49674458 + Silent SNP A A T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 3 49674458 49674458 A T SNP BSN NM_003458 human genbank 54_36p +1 validated silent c.10176 p.A3392 0.981 NULL HMMPfam_zf-piccolo,superfamily_FYVE_PHD_ZnF - no_errors SYT3 84258 genome.wustl.edu 36 19 55827442 55827442 + Missense_Mutation SNP G G C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 19 55827442 55827442 G C SNP SYT3 NM_032298 human genbank 54_36p -1 provisional missense c.587 p.S196C 0.733 NULL superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors PLEK 5341 genome.wustl.edu 36 2 68461409 68461409 + Silent SNP A A T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 2 68461409 68461409 A T SNP PLEK NM_002664 human genbank 54_36p +1 validated silent c.249 p.A83 0.990 superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_SSF46785,HMMPfam_DEP,HMMSmart_DEP - no_errors PPFIA1 8500 genome.wustl.edu 36 11 69872011 69872011 + Missense_Mutation SNP G G C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 11 69872011 69872011 G C SNP PPFIA1 NM_003626 human genbank 54_36p +1 reviewed missense c.2000 p.G667A 0.850 NULL superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1,HMMPfam_SAM_2 - no_errors UGT2B4 7363 genome.wustl.edu 36 4 70380963 70380963 + Missense_Mutation SNP C C A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 4 70380963 70380963 C A SNP UGT2B4 NM_021139 human genbank 54_36p -1 validated missense c.1565 p.G522V 0.004 HMMPfam_UDPGT superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT - no_errors LOC653079 653079 genome.wustl.edu 36 12 75578492 75578492 + RNA SNP C C A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 12 75578492 75578492 C A SNP LOC653079 XR_016115 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene DUPD1 338599 genome.wustl.edu 36 10 76467762 76467762 + Silent SNP G G A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 10 76467762 76467762 G A SNP DUPD1 NM_001003892 human genbank 54_36p -1 provisional silent c.501 p.D167 1.000 superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc superfamily_SSF52799,HMMPfam_DSPc,HMMSmart_DSPc,PatternScan_TYR_PHOSPHATASE_1 - no_errors ARSB 411 genome.wustl.edu 36 5 78112074 78112074 + Silent SNP G A A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 5 78112074 78112074 G A SNP ARSB NM_000046 human genbank 54_36p -1 reviewed silent c.1504 p.L502 0.960 superfamily_Alkaline_phosphatase_core HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2 - no_errors SEC31A 22872 genome.wustl.edu 36 4 83961238 83961238 + Silent SNP C G G novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 4 83961238 83961238 C G SNP SEC31A NM_001077207 human genbank 54_36p -1 reviewed silent c.3459 p.L1153 0.996 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors C9orf79 286234 genome.wustl.edu 36 9 89692727 89692727 + Missense_Mutation SNP G G C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 9 89692727 89692727 G C SNP C9orf79 NM_178828 human genbank 54_36p +1 validated missense c.3505 p.A1169P 0.001 NULL NULL - no_errors UNC5C 8633 genome.wustl.edu 36 4 96441874 96441874 + Silent SNP T C C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 4 96441874 96441874 T C SNP UNC5C NM_003728 human genbank 54_36p -1 reviewed silent c.396 p.E132 0.996 superfamily_Immunoglobulin superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ZU5,HMMSmart_SM00218,superfamily_DEATH domain,HMMSmart_SM00005,HMMPfam_Death - no_errors VPS13B 157680 genome.wustl.edu 36 8 100473063 100473063 + Missense_Mutation SNP G G T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 8 100473063 100473063 G T SNP VPS13B NM_017890 human genbank 54_36p +1 reviewed missense c.3037 p.A1013S 1.000 NULL PatternScan_ZINC_PROTEASE - no_errors SORCS1 114815 genome.wustl.edu 36 10 108479812 108479812 + Missense_Mutation SNP C C T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 10 108479812 108479812 C T SNP SORCS1 NM_001013031 human genbank 54_36p -1 reviewed missense c.1010 p.R337K 0.988 superfamily_SSF110296,HMMSmart_VPS10 superfamily_SSF110296,HMMSmart_VPS10,HMMSmart_PKD,superfamily_PKD,HMMPfam_PKD - no_errors PITX2 5308 genome.wustl.edu 36 4 111758764 111758764 + Missense_Mutation SNP C G G novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 4 111758764 111758764 C G SNP PITX2 NM_000325 human genbank 54_36p -1 reviewed missense c.941 p.S314T 1.000 NULL superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_OAR - no_errors USP28 57646 genome.wustl.edu 36 11 113179805 113179805 + Nonsense_Mutation SNP C C T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 11 113179805 113179805 C T SNP USP28 NM_020886 human genbank 54_36p -1 validated nonsense c.2663 p.W888* 1.000 NULL superfamily_UBA-like,superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,PatternScan_CPSASE_2 - no_errors RPL23AP7 118433 genome.wustl.edu 36 2 114086061 114086061 + RNA SNP A T T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 2 114086061 114086061 A T SNP RPL23AP7 NR_000029 human genbank 54_36p -1 validated rna NULL NULL 1.000 - - - pseudogene CD1C 911 genome.wustl.edu 36 1 156529872 156529872 + Missense_Mutation SNP A A C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 1 156529872 156529872 A C SNP CD1C ENST00000368169 human ensembl 54_36p +1 known missense c.893 p.H298P 0.005 superfamily_Immunoglobulin superfamily_MHC antigen-recognition domain,HMMPfam_MHC_I,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407 - no_errors LRRIQ4 344657 genome.wustl.edu 36 3 171031083 171031083 + Missense_Mutation SNP A A T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 3 171031083 171031083 A T SNP LRRIQ4 NM_001080460 human genbank 54_36p +1 inferred missense c.1304 p.Q435L 0.834 superfamily_SSF52058 superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_IQ,HMMPfam_IQ - no_errors SERPINC1 462 genome.wustl.edu 36 1 172139747 172139747 + Missense_Mutation SNP G G C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 1 172139747 172139747 G C SNP SERPINC1 NM_000488 human genbank 54_36p -1 validated missense c.1298 p.T433S 0.993 superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN superfamily_Prot_inh_serpin,HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN - no_errors MSX2 4488 genome.wustl.edu 36 5 174088884 174088884 + Missense_Mutation SNP T T A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 5 174088884 174088884 T A SNP MSX2 NM_002449 human genbank 54_36p +1 reviewed missense c.496 p.Y166N 1.000 superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors LMAN2 10960 genome.wustl.edu 36 5 176691850 176691850 + Missense_Mutation SNP T T C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 5 176691850 176691850 T C SNP LMAN2 NM_006816 human genbank 54_36p -1 reviewed missense c.914 p.N305S 1.000 NULL superfamily_ConA_like_lec_gl,HMMPfam_Lectin_leg-like - no_errors LRRN2 10446 genome.wustl.edu 36 1 202854465 202854465 + Missense_Mutation SNP G G C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 1 202854465 202854465 G C SNP LRRN2 NM_006338 human genbank 54_36p -1 reviewed missense c.1279 p.R427G 0.992 superfamily_Immunoglobulin,HMMPfam_I-set superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408 - no_errors TRPM8 79054 genome.wustl.edu 36 2 234534428 234534428 + Silent SNP C C T novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 2 234534428 234534428 C T SNP TRPM8 NM_024080 human genbank 54_36p +1 validated silent c.1632 p.D544 0.046 NULL HMMPfam_Ion_trans - no_errors HEATR1 55127 genome.wustl.edu 36 1 234785364 234785364 + Silent SNP T T C novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 1 234785364 234785364 T C SNP HEATR1 NM_018072 human genbank 54_36p -1 validated silent c.5778 p.E1926 0.996 superfamily_ARM-type_fold,HMMPfam_BP28CT superfamily_ARM-type_fold,HMMPfam_HEAT,HMMPfam_BP28CT - no_errors CAPG 822 genome.wustl.edu 36 2 85482546 85482547 + Frame_Shift_Ins INS - - A novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 2 85482546 85482547 - A INS CAPG NM_001747 human genbank 54_36p -1 reviewed frame_shift_ins c.69_68 p.W24fs 0.145:0.187 superfamily_Actin depolymerizing proteins,HMMSmart_SM00262 superfamily_Actin depolymerizing proteins,HMMSmart_SM00262,HMMPfam_Gelsolin - no_errors FAM58B 339521 genome.wustl.edu 36 1 198449327 198449350 + In_Frame_Del DEL GAGGACGCCGGAGAGGAGGCCGGA GAGGACGCCGGAGAGGAGGCCGGA - novel unknown TCGA-04-1651-01A-01W-0639-09 TCGA-04-1651-11A-01W-0639-09 GAGGACGCCGGAGAGGAGGCCGGA GAGGACGCCGGAGAGGAGGCCGGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f02d550d-d80c-449f-9d69-37ffb1e649b6 8e8ba185-6faf-49df-9784-594e179731c5 1 198449327 198449350 GAGGACGCCGGAGAGGAGGCCGGA - DEL FAM58B NM_001105517 human genbank 54_36p +1 inferred in_frame_del c.13_36 p.GEEAGEDA8in_frame_del 0.017:0.005:0.003:0.002:0.001:0.001:0.001:0.000:0.001:0.001:0.005:0.006:0.008:0.007:0.007:0.007:0.005:0.005:0.007:0.009:0.009:0.008:0.007:0.007 NULL PatternScan_CYCLINS,superfamily_Cyclin_like,HMMSmart_CYCLIN (deletion:cds_exon[198449315,198450073]) no_errors