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 USP14 9097 genome.wustl.edu 36 18 201269 201269 + Missense_Mutation SNP G G C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 18 201269 201269 G C SNP USP14 NM_005151 human genbank 54_36p +1 reviewed missense c.1470 p.E490D 0.998 NULL HMMSmart_UBQ,superfamily_SSF54236,PatternScan_UBIQUITIN_1,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors ENSG00000186777 0 genome.wustl.edu 36 4 255378 255378 + Missense_Mutation SNP C C G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 4 255378 255378 C G SNP ENSG00000186777 ENST00000341087 human ensembl 54_36p -1 known missense c.250 p.V84L 0.998 superfamily_SSF57667 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_stop_codon KRTAP5-6 440023 genome.wustl.edu 36 11 1675265 1675265 + Missense_Mutation SNP T T C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 11 1675265 1675265 T C SNP KRTAP5-6 NM_001012416 human genbank 54_36p +1 validated missense c.214 p.S72P 0.994 PatternScan_VWFC_1 PatternScan_MOLYBDOPTERIN_PROK_1,PatternScan_VWFC_1 - no_errors C4orf15 79441 genome.wustl.edu 36 4 2210250 2210250 + Missense_Mutation SNP G G T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 4 2210250 2210250 G T SNP C4orf15 NM_024511 human genbank 54_36p -1 predicted missense c.1228 p.Q410K 0.935 NULL NULL - no_errors NAGPA 51172 genome.wustl.edu 36 16 5018936 5018936 + Missense_Mutation SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 16 5018936 5018936 C T SNP NAGPA NM_016256 human genbank 54_36p -1 reviewed missense c.866 p.G289D 1.000 NULL HMMPfam_EGF_2,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2 - no_errors ACTB 60 genome.wustl.edu 36 7 5534744 5534744 + Missense_Mutation SNP A A G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 7 5534744 5534744 A G SNP ACTB NM_001101 human genbank 54_36p -1 reviewed missense c.496 p.Y166H 1.000 HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain superfamily_Actin-like ATPase domain,HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_1,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_2 - no_errors TP53 7157 genome.wustl.edu 36 17 7520102 7520102 + Nonsense_Mutation SNP G A A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 17 7520102 7520102 G A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.310 p.Q104* 0.941 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors C3orf32 51066 genome.wustl.edu 36 3 8644455 8644455 + Silent SNP G G C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 3 8644455 8644455 G C SNP C3orf32 NM_015931 human genbank 54_36p -1 predicted silent c.537 p.S179 0.065 NULL NULL - no_errors uc010dwx.1 0 genome.wustl.edu 36 19 10021712 10021712 + Missense_Mutation SNP C C G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 19 10021712 10021712 C G SNP uc010dwx.1 ENST00000333905 human ensembl 54_36p +1 known missense c.338 p.A113G 0.879 NULL HMMPfam_A2M,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp - no_errors DGKB 1607 genome.wustl.edu 36 7 14344702 14344702 + Silent SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 7 14344702 14344702 G A SNP DGKB NM_004080 human genbank 54_36p -1 reviewed silent c.2088 p.T696 0.794 HMMPfam_DAGK_acc,HMMSmart_SM00045 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,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 AP1S2 8905 genome.wustl.edu 36 X 15780519 15780519 + Missense_Mutation SNP T T A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 X 15780519 15780519 T A SNP AP1S2 NM_003916 human genbank 54_36p -1 reviewed missense c.50 p.K17I 1.000 HMMPfam_Clat_adaptor_s,superfamily_SNARE-like HMMPfam_Clat_adaptor_s,superfamily_SNARE-like,PatternScan_CLAT_ADAPTOR_S - no_errors LOC284232 284232 genome.wustl.edu 36 13 18310806 18310806 + RNA SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 13 18310806 18310806 C T SNP LOC284232 XR_037095 human genbank 54_36p -1 model rna NULL NULL 0.977 - - - pseudogene KLHDC7A 127707 genome.wustl.edu 36 1 18682352 18682352 + Missense_Mutation SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 18682352 18682352 G A SNP KLHDC7A NM_152375 human genbank 54_36p +1 validated missense c.2290 p.V764I 0.973 NULL superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch - no_errors OR4N2 390429 genome.wustl.edu 36 14 19365848 19365848 + Missense_Mutation SNP C C A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 14 19365848 19365848 C A SNP OR4N2 NM_001004723 human genbank 54_36p +1 provisional missense c.401 p.T134N 0.168 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors AKR7L 246181 genome.wustl.edu 36 1 19472973 19472973 + Silent SNP C T T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 19472973 19472973 C T SNP AKR7L ENST00000388886 human ensembl 54_36p -1 known silent c.183 p.L61 1.000 superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red superfamily_NAD(P)-linked oxidoreductase,HMMPfam_Aldo_ket_red - pseudogene WDR23 80344 genome.wustl.edu 36 14 23662080 23662080 + Missense_Mutation SNP G G C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 14 23662080 23662080 G C SNP WDR23 NM_025230 human genbank 54_36p +1 reviewed missense c.1460 p.R487P 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 - no_errors EXTL3 2137 genome.wustl.edu 36 8 28630021 28630021 + Missense_Mutation SNP G A A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 8 28630021 28630021 G A SNP EXTL3 NM_001440 human genbank 54_36p +1 provisional missense c.526 p.G176S 0.708 NULL HMMPfam_Exostosin,superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glyco_transf_64 - no_errors RBMS3 27303 genome.wustl.edu 36 3 29451396 29451396 + Silent SNP C C A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 3 29451396 29451396 C A SNP RBMS3 NM_001003793 human genbank 54_36p +1 reviewed silent c.234 p.I78 1.000 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors TRIM31 11074 genome.wustl.edu 36 6 30179418 30179418 + Silent SNP A A G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 6 30179418 30179418 A G SNP TRIM31 NM_007028 human genbank 54_36p -1 reviewed silent c.1152 p.S384 0.007 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336 - no_errors HLA-E 3133 genome.wustl.edu 36 6 30566932 30566932 + Missense_Mutation SNP A A C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 6 30566932 30566932 A C SNP HLA-E NM_005516 human genbank 54_36p +1 reviewed missense c.650 p.D217A 0.006 HMMPfam_C1-set,superfamily_SSF48726 HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog,HMMPfam_C1-set,superfamily_SSF48726,HMMSmart_IGc1,PatternScan_IG_MHC - no_errors ERAF 51327 genome.wustl.edu 36 16 31447512 31447512 + Nonstop_Mutation SNP A A T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 16 31447512 31447512 A T SNP ERAF NM_016633 human genbank 54_36p +1 validated nonstop c.308 p.*103L 0.003 NULL superfamily_Alpha-hemoglobin stabilizing protein AHSP,HMMPfam_AHSP - no_errors SUB1 10923 genome.wustl.edu 36 5 32624386 32624386 + Missense_Mutation SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 5 32624386 32624386 C T SNP SUB1 NM_006713 human genbank 54_36p +1 validated missense c.11 p.S4L 1.000 NULL HMMPfam_PC4,superfamily_ssDNA-binding transcriptional regulator domain - no_errors TTC23L 153657 genome.wustl.edu 36 5 34902786 34902786 + Missense_Mutation SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 5 34902786 34902786 C T SNP TTC23L NM_144725 human genbank 54_36p +1 validated missense c.695 p.A232V 0.708 superfamily_TPR-like superfamily_TPR-like - no_errors ZNF76 7629 genome.wustl.edu 36 6 35363549 35363549 + Silent SNP T T C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 6 35363549 35363549 T C SNP ZNF76 NM_003427 human genbank 54_36p +1 provisional silent c.381 p.D127 0.125 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors NIPBL 25836 genome.wustl.edu 36 5 37036732 37036732 + Nonsense_Mutation SNP A A T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 5 37036732 37036732 A T SNP NIPBL NM_133433 human genbank 54_36p +1 reviewed nonsense c.3559 p.K1187* 1.000 superfamily_ARM repeat superfamily_ARM repeat - no_errors SCN11A 11280 genome.wustl.edu 36 3 38925677 38925677 + Missense_Mutation SNP T T G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 3 38925677 38925677 T G SNP SCN11A NM_014139 human genbank 54_36p -1 validated missense c.1114 p.T372P 0.009 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc - no_errors IDO1 3620 genome.wustl.edu 36 8 39894637 39894637 + Missense_Mutation SNP A A T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 8 39894637 39894637 A T SNP IDO1 NM_002164 human genbank 54_36p +1 validated missense c.174 p.R58S 0.430 HMMPfam_IDO HMMPfam_IDO,PatternScan_IDO_1,PatternScan_IDO_2 - no_errors EFTUD2 9343 genome.wustl.edu 36 17 40312494 40312494 + Missense_Mutation SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 17 40312494 40312494 G A SNP EFTUD2 NM_004247 human genbank 54_36p -1 validated missense c.658 p.R220C 1.000 superfamily_SSF52540,HMMPfam_GTP_EFTU PatternScan_EFACTOR_GTP,superfamily_SSF52540,HMMPfam_GTP_EFTU,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_EFG_III_V,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_EFG_IV,HMMPfam_EFG_C - no_errors LRFN2 57497 genome.wustl.edu 36 6 40507989 40507989 + Missense_Mutation SNP T T A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 6 40507989 40507989 T A SNP LRFN2 NM_020737 human genbank 54_36p -1 provisional missense c.842 p.E281V 1.000 superfamily_L domain-like,HMMSmart_SM00082,superfamily_Immunoglobulin superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors LOC100131183 0 genome.wustl.edu 36 7 42119462 42119462 + RNA SNP C C A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 7 42119462 42119462 C A SNP LOC100131183 XR_039424 human genbank 54_36p +1 model rna NULL NULL 0.014 - - - pseudogene ZNF573 126231 genome.wustl.edu 36 19 42922416 42922416 + Missense_Mutation SNP T T G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 19 42922416 42922416 T G SNP ZNF573 NM_152360 human genbank 54_36p -1 provisional missense c.641 p.K214T 0.948 superfamily_SSF57667 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors WFDC12 128488 genome.wustl.edu 36 20 43186298 43186298 + Silent SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 20 43186298 43186298 G A SNP WFDC12 NM_080869 human genbank 54_36p -1 reviewed silent c.102 p.C34 0.024 superfamily_WAP,HMMPfam_WAP,HMMSmart_WAP superfamily_WAP,HMMPfam_WAP,HMMSmart_WAP,PatternScan_4_DISULFIDE_CORE - no_errors B4GALNT2 124872 genome.wustl.edu 36 17 44601243 44601243 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 17 44601243 44601243 C T SNP B4GALNT2 NM_153446 human genbank 54_36p +1 provisional nonsense c.1477 p.Q493* 0.125 NULL superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2 - no_errors LOC728576 728576 genome.wustl.edu 36 4 47403152 47403152 + RNA SNP G G T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 4 47403152 47403152 G T SNP LOC728576 XR_015608 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene MSH2 4436 genome.wustl.edu 36 2 47563537 47563537 + Missense_Mutation SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 2 47563537 47563537 C T SNP MSH2 NM_000251 human genbank 54_36p +1 reviewed missense c.2750 p.A917V 0.861 NULL HMMPfam_MutS_I,HMMPfam_MutS_II,HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2 - no_errors HDC 3067 genome.wustl.edu 36 15 48321975 48321975 + Missense_Mutation SNP T T C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 15 48321975 48321975 T C SNP HDC NM_002112 human genbank 54_36p -1 validated missense c.1763 p.N588S 1.000 NULL superfamily_PyrdxlP-dep_Trfase_major,HMMPfam_Pyridoxal_deC,PatternScan_DDC_GAD_HDC_YDC - no_errors HDAC6 10013 genome.wustl.edu 36 X 48563541 48563541 + Missense_Mutation SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 X 48563541 48563541 G A SNP HDAC6 NM_006044 human genbank 54_36p +1 reviewed missense c.2272 p.G758S 1.000 superfamily_SSF52768,HMMPfam_Hist_deacetyl superfamily_SSF52768,HMMPfam_Hist_deacetyl,HMMSmart_ZnF_UBP,HMMPfam_zf-UBP - no_errors ZNF227 7770 genome.wustl.edu 36 19 49430892 49430892 + Missense_Mutation SNP A A G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 19 49430892 49430892 A G SNP ZNF227 NM_182490 human genbank 54_36p +1 provisional missense c.469 p.K157E 0.003 NULL superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors DOCK3 1795 genome.wustl.edu 36 3 51374451 51374451 + Missense_Mutation SNP C C A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 3 51374451 51374451 C A SNP DOCK3 NM_004947 human genbank 54_36p +1 validated missense c.5128 p.L1710M 0.990 NULL superfamily_SH3-domain,HMMPfam_SH3_2,HMMPfam_Ded_cyto - no_errors ZC3H4 23211 genome.wustl.edu 36 19 52289639 52289639 + Silent SNP G A A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 19 52289639 52289639 G A SNP ZC3H4 NM_015168 human genbank 54_36p -1 validated silent c.228 p.S76 0.028 NULL HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 - no_errors TRAM2 9697 genome.wustl.edu 36 6 52480380 52480380 + Missense_Mutation SNP C C G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 6 52480380 52480380 C G SNP TRAM2 NM_012288 human genbank 54_36p -1 reviewed missense c.556 p.E186Q 1.000 HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8 HMMPfam_TRAM1,HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8 - no_errors MRPS23 51649 genome.wustl.edu 36 17 53273335 53273335 + Missense_Mutation SNP G G C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 17 53273335 53273335 G C SNP MRPS23 NM_016070 human genbank 54_36p -1 reviewed missense c.371 p.A124G 1.000 HMMPfam_MRP-S23 HMMPfam_MRP-S23 - no_errors OR2AP1 0 genome.wustl.edu 36 12 54255256 54255256 + Missense_Mutation SNP A A G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 12 54255256 54255256 A G SNP OR2AP1 ENST00000321688 human ensembl 54_36p +1 known missense c.791 p.E264G 0.001 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors TBPL2 387332 genome.wustl.edu 36 14 54973162 54973162 + Missense_Mutation SNP G G T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 14 54973162 54973162 G T SNP TBPL2 NM_199047 human genbank 54_36p -1 validated missense c.478 p.P160T 0.000 NULL superfamily_TFIID_C/glycos_N,HMMPfam_TBP,PatternScan_TFIID - no_errors OR5L2 26338 genome.wustl.edu 36 11 55352132 55352132 + Missense_Mutation SNP C C G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 11 55352132 55352132 C G SNP OR5L2 NM_001004739 human genbank 54_36p +1 provisional missense c.862 p.L288V 0.034 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PPAT 5471 genome.wustl.edu 36 4 56964294 56964294 + Missense_Mutation SNP T T A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 4 56964294 56964294 T A SNP PPAT NM_002703 human genbank 54_36p -1 reviewed missense c.433 p.S145C 0.970 HMMPfam_GATase_2,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) HMMPfam_GATase_2,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),superfamily_PRTase-like,HMMPfam_Pribosyltran - no_errors OR10W1 81341 genome.wustl.edu 36 11 57791918 57791918 + Missense_Mutation SNP G G T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 11 57791918 57791918 G T SNP OR10W1 ENST00000395079 human ensembl 54_36p -1 known missense c.16 p.H6N 0.001 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_start_codon:no_stop_codon FGGY 55277 genome.wustl.edu 36 1 59846065 59846065 + Silent SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 59846065 59846065 C T SNP FGGY NM_018291 human genbank 54_36p +1 validated silent c.570 p.I190 1.000 superfamily_SSF53067 superfamily_SSF53067,HMMPfam_FGGY_C - no_errors PRICKLE2 166336 genome.wustl.edu 36 3 64060146 64060146 + Missense_Mutation SNP G G C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 3 64060146 64060146 G C SNP PRICKLE2 NM_198859 human genbank 54_36p -1 validated missense c.2156 p.A719G 1.000 NULL HMMPfam_PET,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_SSF57716 - no_errors NRXN2 9379 genome.wustl.edu 36 11 64174546 64174546 + Missense_Mutation SNP G G T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 11 64174546 64174546 G T SNP NRXN2 NM_015080 human genbank 54_36p -1 reviewed missense c.3059 p.S1020Y 1.000 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00294 - no_errors MIRN124-2 0 genome.wustl.edu 36 8 65454352 65454352 + RNA SNP C C A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 8 65454352 65454352 C A SNP MIRN124-2 ENST00000385081 human ensembl 54_36p +1 known rna NULL NULL 1.000 - - - no_errors FAM65A 79567 genome.wustl.edu 36 16 66130064 66130064 + Missense_Mutation SNP C C A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 16 66130064 66130064 C A SNP FAM65A ENST00000379312 human ensembl 54_36p +1 known missense c.105 p.S35R 0.000 NULL superfamily_ARM repeat - no_errors RIMS1 22999 genome.wustl.edu 36 6 73024606 73024606 + Missense_Mutation SNP A A C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 6 73024606 73024606 A C SNP RIMS1 NM_014989 human genbank 54_36p +1 validated missense c.2828 p.Q943P 1.000 NULL superfamily_FYVE/PHD zinc finger,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors CANT1 124583 genome.wustl.edu 36 17 74504852 74504852 + Missense_Mutation SNP C C G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 17 74504852 74504852 C G SNP CANT1 NM_138793 human genbank 54_36p -1 provisional missense c.448 p.D150H 0.005 superfamily_Apyrase,HMMPfam_Apyrase superfamily_Apyrase,HMMPfam_Apyrase - no_errors HK2 3099 genome.wustl.edu 36 2 74970049 74970049 + Missense_Mutation SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 2 74970049 74970049 C T SNP HK2 NM_000189 human genbank 54_36p +1 reviewed missense c.2545 p.R849C 0.998 HMMPfam_Hexokinase_2,superfamily_SSF53067 HMMPfam_Hexokinase_1,superfamily_SSF53067,PatternScan_HEXOKINASES,HMMPfam_Hexokinase_2 - no_errors LHX8 431707 genome.wustl.edu 36 1 75399160 75399160 + Missense_Mutation SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 75399160 75399160 C T SNP LHX8 NM_001001933 human genbank 54_36p +1 validated missense c.1063 p.H355Y 1.000 NULL superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors SLC44A5 204962 genome.wustl.edu 36 1 75456154 75456154 + Missense_Mutation SNP C C G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 75456154 75456154 C G SNP SLC44A5 NM_152697 human genbank 54_36p -1 validated missense c.1609 p.D537H 1.000 HMMPfam_DUF580 HMMPfam_DUF580 - no_errors GAB2 9846 genome.wustl.edu 36 11 77608048 77608048 + Missense_Mutation SNP T T C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 11 77608048 77608048 T C SNP GAB2 NM_080491 human genbank 54_36p -1 reviewed missense c.1949 p.K650R 1.000 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors LOC727874 727874 genome.wustl.edu 36 X 79703554 79703554 + RNA SNP C C A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 X 79703554 79703554 C A SNP LOC727874 XR_042356 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene DNHL1 284944 genome.wustl.edu 36 2 84633556 84633556 + Missense_Mutation SNP A A T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 2 84633556 84633556 A T SNP DNHL1 ENST00000237449 human ensembl 54_36p +1 known missense c.1489 p.T497S 0.000 NULL HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors HS2ST1 9653 genome.wustl.edu 36 1 87330916 87330916 + Silent SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 87330916 87330916 G A SNP HS2ST1 NM_012262 human genbank 54_36p +1 reviewed silent c.564 p.R188 1.000 HMMPfam_HS2ST,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_HS2ST,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors WDR21C 138009 genome.wustl.edu 36 8 88955257 88955257 + Missense_Mutation SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 8 88955257 88955257 C T SNP WDR21C NM_152418 human genbank 54_36p -1 validated missense c.59 p.R20K 0.482 superfamily_WD40_like PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 - no_errors HERC3 8916 genome.wustl.edu 36 4 89844708 89844708 + Silent SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 4 89844708 89844708 G A SNP HERC3 NM_014606 human genbank 54_36p +1 provisional silent c.2868 p.S956 0.688 superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors GPRIN3 285513 genome.wustl.edu 36 4 90388003 90388003 + Missense_Mutation SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 4 90388003 90388003 C T SNP GPRIN3 NM_198281 human genbank 54_36p -1 validated missense c.2282 p.R761Q 0.445 NULL NULL - no_errors TC2N 123036 genome.wustl.edu 36 14 91323626 91323626 + Silent SNP T T G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 14 91323626 91323626 T G SNP TC2N NM_152332 human genbank 54_36p -1 validated silent c.1146 p.S382 0.970 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2 - no_errors SLC36A4 120103 genome.wustl.edu 36 11 92521397 92521397 + Missense_Mutation SNP G G C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 11 92521397 92521397 G C SNP SLC36A4 NM_152313 human genbank 54_36p -1 provisional missense c.1469 p.P490R 0.001 NULL HMMPfam_Aa_trans - no_errors SLC15A1 6564 genome.wustl.edu 36 13 98176651 98176651 + Silent SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 13 98176651 98176651 G A SNP SLC15A1 NM_005073 human genbank 54_36p -1 validated silent c.75 p.C25 0.997 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter,PatternScan_PTR2_1,HMMPfam_PTR2,PatternScan_PTR2_2 - no_errors AZGP1 563 genome.wustl.edu 36 7 99407505 99407505 + Missense_Mutation SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 7 99407505 99407505 G A SNP AZGP1 NM_001185 human genbank 54_36p -1 validated missense c.137 p.A46V 0.019 HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain HMMPfam_MHC_I,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC - no_errors SNORD113-5 0 genome.wustl.edu 36 14 100474287 100474287 + RNA SNP A A T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 14 100474287 100474287 A T SNP SNORD113-5 NR_003233 human genbank 54_36p +1 provisional rna NULL NULL 0.021 - - - no_errors MMP27 64066 genome.wustl.edu 36 11 102067804 102067804 + Missense_Mutation SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 11 102067804 102067804 G A SNP MMP27 NM_022122 human genbank 54_36p -1 reviewed missense c.1445 p.A482V 0.000 NULL "HMMPfam_PG_binding_1,superfamily_PGBD-like,PatternScan_CYSTEINE_SWITCH,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120,PatternScan_HEMOPEXIN" - no_errors IGHD 0 genome.wustl.edu 36 14 105378358 105378358 + Missense_Mutation SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 14 105378358 105378358 G A SNP IGHD ENST00000390556 human ensembl 54_36p -1 known missense c.725 p.T242M 0.004 superfamily_Immunoglobulin,HMMPfam_ig,HMMSmart_SM00407 superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC,HMMPfam_ig - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PIK3CG 5294 genome.wustl.edu 36 7 106296607 106296607 + Silent SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 7 106296607 106296607 G A SNP PIK3CG NM_002649 human genbank 54_36p +1 reviewed silent c.1365 p.K455 0.353 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PI3K_C2 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 - no_errors TRHR 7201 genome.wustl.edu 36 8 110200708 110200708 + Missense_Mutation SNP A A T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 8 110200708 110200708 A T SNP TRHR NM_003301 human genbank 54_36p +1 provisional missense c.1045 p.S349C 1.000 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SPAG17 200162 genome.wustl.edu 36 1 118317674 118317674 + Missense_Mutation SNP G G T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 118317674 118317674 G T SNP SPAG17 NM_206996 human genbank 54_36p -1 validated missense c.6038 p.T2013N 0.999 NULL NULL - no_errors CABP1 9478 genome.wustl.edu 36 12 119578380 119578380 + Silent SNP G A A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 12 119578380 119578380 G A SNP CABP1 NM_031205 human genbank 54_36p +1 reviewed silent c.147 p.Q49 1.000 NULL superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors PTPRZ1 5803 genome.wustl.edu 36 7 121336025 121336025 + Silent SNP A A T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 7 121336025 121336025 A T SNP PTPRZ1 ENST00000393385 human ensembl 54_36p +1 known silent c.18 p.T6 0.003 NULL superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase,PatternScan_TYR_PHOSPHATASE_1 - no_start_codon DTX3L 151636 genome.wustl.edu 36 3 123765992 123765992 + Missense_Mutation SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 3 123765992 123765992 C T SNP DTX3L NM_138287 human genbank 54_36p +1 validated missense c.29 p.P10L 1.000 NULL superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1 - no_errors ATAD2 29028 genome.wustl.edu 36 8 124417845 124417845 + Missense_Mutation SNP C C G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 8 124417845 124417845 C G SNP ATAD2 NM_014109 human genbank 54_36p -1 reviewed missense c.3160 p.D1054H 1.000 superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain HMMPfam_YL1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain - no_errors GSDMC 56169 genome.wustl.edu 36 8 130830025 130830025 + Silent SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 8 130830025 130830025 C T SNP GSDMC NM_031415 human genbank 54_36p -1 validated silent c.1431 p.L477 0.000 HMMPfam_Gasdermin HMMPfam_Gasdermin - no_errors LAMC3 10319 genome.wustl.edu 36 9 132922157 132922157 + Missense_Mutation SNP G G T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 9 132922157 132922157 G T SNP LAMC3 NM_006059 human genbank 54_36p +1 reviewed missense c.1960 p.V654F 0.070 HMMPfam_Laminin_B HMMSmart_LamNT,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMPfam_Laminin_B,PatternScan_EGF_2 - no_errors NCAPD3 23310 genome.wustl.edu 36 11 133551420 133551420 + Silent SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 11 133551420 133551420 G A SNP NCAPD3 NM_015261 human genbank 54_36p -1 validated silent c.3093 p.D1031 0.869 superfamily_ARM-type_fold superfamily_ARM-type_fold,HMMPfam_HEAT - no_errors MATR3 9782 genome.wustl.edu 36 5 138671063 138671063 + Missense_Mutation SNP C C G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 5 138671063 138671063 C G SNP MATR3 NM_018834 human genbank 54_36p +1 reviewed missense c.60 p.D20E 1.000 NULL HMMSmart_ZnF_U1,HMMSmart_ZnF_C2H2,HMMSmart_RRM,superfamily_SSF54928 - no_errors A4GNT 51146 genome.wustl.edu 36 3 139332631 139332631 + Missense_Mutation SNP A A T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 3 139332631 139332631 A T SNP A4GNT NM_016161 human genbank 54_36p -1 reviewed missense c.158 p.V53E 0.965 NULL HMMPfam_Gly_transf_sug,HMMPfam_Gb3_synth - no_errors DENND2A 27147 genome.wustl.edu 36 7 139913500 139913500 + Missense_Mutation SNP T T A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 7 139913500 139913500 T A SNP DENND2A NM_015689 human genbank 54_36p -1 validated missense c.1634 p.Q545L 1.000 NULL HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801 - no_errors PCDHA10 56139 genome.wustl.edu 36 5 140216244 140216244 + Missense_Mutation SNP G G C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 5 140216244 140216244 G C SNP PCDHA10 NM_018901 human genbank 54_36p +1 reviewed missense c.427 p.E143Q 0.975 superfamily_Cadherin-like,HMMPfam_Cadherin superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors CTAGE4 0 genome.wustl.edu 36 7 143513442 143513442 + RNA SNP G G T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 7 143513442 143513442 G T SNP CTAGE4 XR_038147 human genbank 54_36p +1 model rna NULL NULL 0.967 - - - no_errors CNTNAP2 26047 genome.wustl.edu 36 7 146460284 146460284 + Silent SNP T T C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 7 146460284 146460284 T C SNP CNTNAP2 NM_014141 human genbank 54_36p +1 reviewed silent c.1098 p.F366 0.984 superfamily_Concanavalin A-like lectins/glucanases HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,superfamily_Fibrinogen C-terminal domain-like,PatternScan_GLYCO_HORMONE_BETA_1,HMMSmart_SM00294 - no_errors JAKMIP2 9832 genome.wustl.edu 36 5 147003840 147003840 + Missense_Mutation SNP G G C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 5 147003840 147003840 G C SNP JAKMIP2 NM_014790 human genbank 54_36p -1 provisional missense c.1198 p.Q400E 1.000 NULL NULL - no_errors LOC100128542 0 genome.wustl.edu 36 7 150077933 150077933 + Silent SNP C C A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 7 150077933 150077933 C A SNP LOC100128542 XM_001720451 human genbank 54_36p +1 model silent c.177 p.T59 0.897 HMMPfam_SNARE HMMPfam_SNARE - no_errors IVL 3713 genome.wustl.edu 36 1 151150410 151150410 + Missense_Mutation SNP C C G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 151150410 151150410 C G SNP IVL NM_005547 human genbank 54_36p +1 reviewed missense c.1513 p.Q505E 0.299 HMMPfam_Involucrin PatternScan_INVOLUCRIN,HMMPfam_Involucrin_N,HMMPfam_Involucrin - no_errors LRBA 987 genome.wustl.edu 36 4 151461965 151461965 + Silent SNP T T A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 4 151461965 151461965 T A SNP LRBA NM_006726 human genbank 54_36p -1 validated silent c.7491 p.P2497 0.986 superfamily_WD40 repeat-like superfamily_ARM repeat,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors MAB21L2 10586 genome.wustl.edu 36 4 151724657 151724657 + Silent SNP C C A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 4 151724657 151724657 C A SNP MAB21L2 NM_006439 human genbank 54_36p +1 reviewed silent c.1026 p.T342 1.000 HMMPfam_Mab-21 HMMPfam_Mab-21 - no_errors CCT8L1 155100 genome.wustl.edu 36 7 151774408 151774408 + Missense_Mutation SNP C C A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 7 151774408 151774408 C A SNP CCT8L1 NM_001029866 human genbank 54_36p +1 inferred missense c.914 p.T305K 0.000 superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,superfamily_SSF54849,superfamily_SSF52029 PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,superfamily_SSF54849,superfamily_SSF52029 - no_errors NEB 4703 genome.wustl.edu 36 2 152261396 152261396 + Splice_Site SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 2 152261396 152261396 C T SNP NEB NM_004543 human genbank 54_36p -1 reviewed splice_site c.1569+1 e15+1 1.000 - - - no_errors C1orf104 284618 genome.wustl.edu 36 1 153557484 153557484 + Missense_Mutation SNP A A C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 153557484 153557484 A C SNP C1orf104 NM_001039517 human genbank 54_36p -1 predicted missense c.420 p.I140M 0.001 NULL NULL - no_errors GRIA2 2891 genome.wustl.edu 36 4 158444384 158444384 + Missense_Mutation SNP A A C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 4 158444384 158444384 A C SNP GRIA2 NM_000826 human genbank 54_36p +1 reviewed missense c.460 p.S154R 1.000 superfamily_SSF53822,HMMPfam_ANF_receptor superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors CD244 51744 genome.wustl.edu 36 1 159074864 159074864 + Splice_Site SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 159074864 159074864 C T SNP CD244 NM_016382 human genbank 54_36p -1 validated splice_site c.834+1 e5+1 0.002 - - - no_errors RXRG 6258 genome.wustl.edu 36 1 163642698 163642698 + Missense_Mutation SNP G G T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 163642698 163642698 G T SNP RXRG NM_006917 human genbank 54_36p -1 reviewed missense c.1219 p.Q407K 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 XIRP2 129446 genome.wustl.edu 36 2 167813573 167813573 + Silent SNP G G C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 2 167813573 167813573 G C SNP XIRP2 NM_152381 human genbank 54_36p +1 validated silent c.7425 p.T2475 0.000 NULL HMMPfam_Xin - no_errors LOC646804 646804 genome.wustl.edu 36 1 169319331 169319331 + Silent SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 169319331 169319331 G A SNP LOC646804 XM_929761 human genbank 54_36p +1 model silent c.75 p.E25 0.998 NULL PatternScan_RIBOSOMAL_L23 - no_errors RC3H1 149041 genome.wustl.edu 36 1 172208270 172208270 + Silent SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 172208270 172208270 C T SNP RC3H1 NM_172071 human genbank 54_36p -1 validated silent c.1221 p.Q407 1.000 NULL superfamily_RING/U-box,HMMPfam_zf-C3HC4,HMMSmart_SM00184,PatternScan_ZF_RING_1,superfamily_CCCH zinc finger,HMMSmart_SM00356,HMMPfam_zf-CCCH - no_errors ECT2 1894 genome.wustl.edu 36 3 173985248 173985248 + Missense_Mutation SNP C C G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 3 173985248 173985248 C G SNP ECT2 NM_018098 human genbank 54_36p +1 reviewed missense c.1693 p.P565A 1.000 superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1 superfamily_BRCT domain,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like - no_errors TTN 7273 genome.wustl.edu 36 2 179147407 179147407 + Missense_Mutation SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 2 179147407 179147407 G A SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.59641 p.R19881W 1.000 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors TTN 7273 genome.wustl.edu 36 2 179167196 179167196 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 2 179167196 179167196 G T SNP TTN NM_133378 human genbank 54_36p -1 reviewed nonsense c.50465 p.S16822* 0.404 superfamily_Ypt/Rab-GAP domain of gyp1p superfamily_Ypt/Rab-GAP domain of gyp1p,PatternScan_RCC1_2,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_beta-sandwich domain of Sec23/24 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region DHX9 1660 genome.wustl.edu 36 1 181079106 181079106 + Missense_Mutation SNP G G C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 181079106 181079106 G C SNP DHX9 NM_001357 human genbank 54_36p +1 reviewed missense c.166 p.D56H 1.000 superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358 superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358,HMMSmart_SM00487,HMMPfam_DEAD,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605 - no_errors MSTN 2660 genome.wustl.edu 36 2 190635223 190635223 + Silent SNP C C A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 2 190635223 190635223 C A SNP MSTN NM_005259 human genbank 54_36p -1 reviewed silent c.345 p.T115 0.999 HMMPfam_TGFb_propeptide HMMPfam_TGFb_propeptide,PatternScan_EF_HAND_1,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1 - no_errors LAD1 3898 genome.wustl.edu 36 1 199618023 199618023 + Missense_Mutation SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 199618023 199618023 C T SNP LAD1 NM_005558 human genbank 54_36p -1 reviewed missense c.1528 p.D510N 0.000 NULL NULL - no_errors C2orf47 79568 genome.wustl.edu 36 2 200528797 200528797 + Missense_Mutation SNP T T A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 2 200528797 200528797 T A SNP C2orf47 NM_024520 human genbank 54_36p +1 predicted missense c.31 p.F11I 0.000 NULL NULL - no_errors RCOR3 55758 genome.wustl.edu 36 1 209552809 209552809 + Silent SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 209552809 209552809 G A SNP RCOR3 NM_018254 human genbank 54_36p +1 validated silent c.1026 p.Q342 1.000 NULL HMMPfam_ELM2,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding - no_errors USP37 57695 genome.wustl.edu 36 2 219038993 219038993 + Missense_Mutation SNP T T G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 2 219038993 219038993 T G SNP USP37 NM_020935 human genbank 54_36p -1 validated missense c.2450 p.Q817P 1.000 superfamily_Cysteine proteinases,HMMPfam_UCH,HMMPfam_UIM,HMMSmart_SM00726 superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,HMMSmart_SM00726,HMMPfam_UIM,PatternScan_UCH_2_2 - no_errors PTPRN 5798 genome.wustl.edu 36 2 219872710 219872710 + Silent SNP C C A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 2 219872710 219872710 C A SNP PTPRN NM_002846 human genbank 54_36p -1 reviewed silent c.1479 p.L493 1.000 NULL superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors WDR26 80232 genome.wustl.edu 36 1 222673919 222673919 + Silent SNP T T G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 222673919 222673919 T G SNP WDR26 NM_025160 human genbank 54_36p -1 reviewed silent c.345 p.A115 0.989 NULL HMMSmart_SM00668,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors MRPL44 65080 genome.wustl.edu 36 2 224532732 224532732 + Missense_Mutation SNP G G C novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 2 224532732 224532732 G C SNP MRPL44 NM_022915 human genbank 54_36p +1 reviewed missense c.417 p.Q139H 0.962 superfamily_RNase_III,HMMSmart_RIBOc,HMMPfam_Ribonuclease_3 PatternScan_RNASE_3_1,superfamily_RNase_III,HMMSmart_RIBOc,HMMPfam_Ribonuclease_3,superfamily_SSF54768 - no_errors TTC13 79573 genome.wustl.edu 36 1 229160614 229160614 + Missense_Mutation SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 229160614 229160614 C T SNP TTC13 NM_024525 human genbank 54_36p -1 validated missense c.421 p.D141N 1.000 NULL HMMSmart_SM00028,superfamily_TPR-like,HMMPfam_TPR_1,HMMPfam_TPR_2 - no_errors EGLN1 54583 genome.wustl.edu 36 1 229623512 229623512 + Missense_Mutation SNP T T A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 229623512 229623512 T A SNP EGLN1 NM_022051 human genbank 54_36p -1 provisional missense c.746 p.K249M 1.000 HMMSmart_SM00702 HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,HMMSmart_SM00702,HMMPfam_2OG-FeII_Oxy - no_errors COL6A3 1293 genome.wustl.edu 36 2 237970176 237970176 + Silent SNP G G A novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 2 237970176 237970176 G A SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed silent c.24 p.P8 0.210 NULL HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1 - no_errors ANO7 50636 genome.wustl.edu 36 2 241783795 241783795 + Silent SNP C C T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 2 241783795 241783795 C T SNP ANO7 NM_001001891 human genbank 54_36p +1 validated silent c.333 p.D111 0.999 NULL HMMPfam_DUF590 - no_errors AHCTF1 25909 genome.wustl.edu 36 1 245072688 245072688 + Missense_Mutation SNP T T G novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 245072688 245072688 T G SNP AHCTF1 NM_015446 human genbank 54_36p -1 validated missense c.6539 p.Q2180P 0.002 NULL PatternScan_TUBULIN_B_AUTOREG,HMMPfam_AT_hook,HMMSmart_AT_hook - no_errors MT-ND5 4540 genome.wustl.edu 36 MT 13549 13550 + Frame_Shift_Ins INS - - T novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 MT 13549 13550 - T INS MT-ND5 ENST00000361567 human ensembl 54_36p +1 known frame_shift_ins c.1212_1213 p.N404fs NULL NULL HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C - no_errors LOC100133718 0 genome.wustl.edu 36 4 17839 17849 + Frame_Shift_Del DEL GGCTGAATGTG GGCTGAATGTG - novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 GGCTGAATGTG GGCTGAATGTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 4 17839 17849 GGCTGAATGTG - DEL LOC100133718 XM_001713866 human genbank 54_36p -1 model frame_shift_del c.23_13 p.H5fs 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 NULL NULL (deletion:cds_exon[17604,17861]) no_start_codon:pseudogene:no_stop_codon LOC647546 647546 genome.wustl.edu 36 12 3228047 3228054 + Frame_Shift_Del DEL GGGAGGTG GGGAGGTG - novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 GGGAGGTG GGGAGGTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 12 3228047 3228054 GGGAGGTG - DEL LOC647546 XM_936601 human genbank 54_36p -1 model frame_shift_del c.5399_5392 p.H1798fs 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 NULL NULL (deletion:cds_exon[3225102,3228278]) no_start_codon:pseudogene:no_stop_codon ZNF384 171017 genome.wustl.edu 36 12 6647331 6647333 + In_Frame_Del DEL TGC TGC - novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 TGC TGC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 12 6647331 6647333 TGC - DEL ZNF384 NM_001039916 human genbank 54_36p -1 reviewed in_frame_del c.1361_1359 p.Q455in_frame_del 1.000:1.000:0.995 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 (deletion:cds_exon[6647141,6647542]) no_errors LOC100133762 0 genome.wustl.edu 36 12 9372309 9372310 + Frame_Shift_Del DEL GT GT - novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 GT GT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 12 9372309 9372310 GT - DEL LOC100133762 XM_001716848 human genbank 54_36p -1 model frame_shift_del c.406_405 p.L136fs 0.000:0.000 NULL NULL (deletion:cds_exon[9372204,9372372]) pseudogene:no_stop_codon LOC100131718 100131718 genome.wustl.edu 36 8 12448950 12448954 + RNA DEL GGTCG GGTCG - novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 GGTCG GGTCG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 8 12448950 12448954 GGTCG - DEL LOC100131718 XR_038665 human genbank 54_36p +1 model rna NULL NULL 0.000:0.000:0.000:0.000:0.000 - - (deletion:rna[12448333,12448991]) pseudogene CHN2 1124 genome.wustl.edu 36 7 29404505 29404527 + Splice_Site DEL TACCTTCAGGTTTCATGGGATCA TACCTTCAGGTTTCATGGGATCA - novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 TACCTTCAGGTTTCATGGGATCA TACCTTCAGGTTTCATGGGATCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 7 29404505 29404527 TACCTTCAGGTTTCATGGGATCA - DEL CHN2 NM_004067 human genbank 54_36p +1 reviewed splice_site_del c.177-9_177-1 e5-1 0.001:0.000:0.033:0.007:0.008:0.082:0.630:0.998:1.000:1.000:1.000:1.000:0.989:1.000:0.997:0.619:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - (deletion:intron[29399852,29404513], cds_exon[29404514,29404627]) no_errors RYR3 6263 genome.wustl.edu 36 15 31728681 31728682 + Frame_Shift_Del DEL CA CA - novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 CA CA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 15 31728681 31728682 CA - DEL RYR3 NM_001036 human genbank 54_36p +1 validated frame_shift_del c.4095_4096 p.T1366fs 0.982:0.997 HMMPfam_SPRY,HMMSmart_SM00449 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,HMMPfam_efhand,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans (deletion:cds_exon[31728565,31728728]) no_errors PIGU 128869 genome.wustl.edu 36 20 32696734 32696744 + Splice_Site DEL ACTTACCATAA ACTTACCATAA - novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 ACTTACCATAA ACTTACCATAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 20 32696734 32696744 ACTTACCATAA - DEL PIGU NM_080476 human genbank 54_36p -1 reviewed splice_site_del c.255+6_255+1 e4-1 0.993:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - (deletion:intron[32695692,32696739], cds_exon[32696740,32696799]) no_errors MITF 4286 genome.wustl.edu 36 3 70096862 70096870 + In_Frame_Del DEL GATGGCACC GATGGCACC - novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 GATGGCACC GATGGCACC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 3 70096862 70096870 GATGGCACC - DEL MITF NM_198159 human genbank 54_36p +1 reviewed in_frame_del c.1336_1344 p.DGT446in_frame_del 1.000:1.000:0.990:1.000:1.000:0.998:1.000:1.000:1.000 NULL superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH (deletion:cds_exon[70096688,70097089]) no_errors LOC100131436 0 genome.wustl.edu 36 17 71599192 71599194 + In_Frame_Del DEL AGG AGG - novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 AGG AGG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 17 71599192 71599194 AGG - DEL LOC100131436 XM_001720272 human genbank 54_36p +1 model in_frame_del c.237_239 p.G80in_frame_del 0.000:0.000:0.001 NULL NULL (deletion:cds_exon[71598956,71599486]) no_errors SLC15A1 6564 genome.wustl.edu 36 13 98156479 98156503 + Frame_Shift_Del DEL GTTTCCTTTGGGGAAGACTGGAAGA GTTTCCTTTGGGGAAGACTGGAAGA - novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 GTTTCCTTTGGGGAAGACTGGAAGA GTTTCCTTTGGGGAAGACTGGAAGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 13 98156479 98156503 GTTTCCTTTGGGGAAGACTGGAAGA - DEL SLC15A1 NM_005073 human genbank 54_36p -1 validated frame_shift_del c.1179_1155 p.L386fs 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.160:0.984:0.999:0.998:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_MFS general substrate transporter,HMMPfam_PTR2 superfamily_MFS general substrate transporter,PatternScan_PTR2_1,HMMPfam_PTR2,PatternScan_PTR2_2 (deletion:cds_exon[98156389,98156508]) no_errors SLC25A43 203427 genome.wustl.edu 36 X 118469992 118470017 + Splice_Site DEL CCTGTCAGGCTCAGAGCCCCTACCTC CCTGTCAGGCTCAGAGCCCCTACCTC - novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 CCTGTCAGGCTCAGAGCCCCTACCTC CCTGTCAGGCTCAGAGCCCCTACCTC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 X 118469992 118470017 CCTGTCAGGCTCAGAGCCCCTACCTC - DEL SLC25A43 NM_145305 human genbank 54_36p +1 provisional splice_site_del c.691-8_691-1 e4-1 0.007:0.003:0.003:0.012:0.461:0.960:1.000:1.000:1.000:1.000:0.995:1.000:1.000:0.999:1.000:0.998:0.520:0.496:0.232:0.015:0.018:0.018:0.024:0.845:0.909:0.888 - - (deletion:intron[118428354,118469999], cds_exon[118470000,118470134]) no_errors PTPRZ1 5803 genome.wustl.edu 36 7 121300618 121300619 + Frame_Shift_Ins INS - - CA novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 7 121300618 121300619 - CA INS PTPRZ1 ENST00000265220 human ensembl 54_36p +1 known frame_shift_ins c.99_100 p.T37fs 0.000:0.000 NULL superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_start_codon CHML 1122 genome.wustl.edu 36 1 239864072 239864082 + Frame_Shift_Del DEL CTCGTTTATTT CTCGTTTATTT - novel unknown TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 CTCGTTTATTT CTCGTTTATTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7b15ab86-69b5-44a8-b90c-c4274b6bd45a 3d076c6a-cd17-44c8-9fb7-409aa54629c5 1 239864072 239864082 CTCGTTTATTT - DEL CHML NM_001821 human genbank 54_36p -1 reviewed frame_shift_del c.1620_1610 p.E537fs 0.061:0.040:0.000:0.000:0.000:0.000:0.000:0.000:0.007:0.023:0.048 superfamily_FAD/NAD(P)-binding domain,HMMPfam_GDI,superfamily_FAD-linked reductases C-terminal domain superfamily_FAD/NAD(P)-binding domain,HMMPfam_GDI,superfamily_FAD-linked reductases C-terminal domain (deletion:cds_exon[239863721,239865691]) no_errors