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 ENSG00000215614 0 genome.wustl.edu 36 NT_113923 51301 51301 + Missense_Mutation SNP C T T novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 NT_113923 51301 51301 C T SNP ENSG00000215614 ENST00000400675 human ensembl 54_36p +1 known missense c.167 p.S56F NULL HMMPfam_RFPL3_antisense HMMPfam_RFPL3_antisense - no_start_codon:no_stop_codon ASMTL 8623 genome.wustl.edu 36 X 1497002 1497002 + Silent SNP C G G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 X 1497002 1497002 C G SNP ASMTL NM_004192 human genbank 54_36p -1 validated silent c.1386 p.T462 0.999 HMMPfam_Methyltransf_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases "superfamily_Maf/Ham1,HMMPfam_Maf,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Methyltransf_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" - no_errors WHSC2 7469 genome.wustl.edu 36 4 1955171 1955171 + Missense_Mutation SNP A A T novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 4 1955171 1955171 A T SNP WHSC2 NM_005663 human genbank 54_36p -1 reviewed missense c.1352 p.V451D 1.000 NULL NULL - no_errors C4orf15 79441 genome.wustl.edu 36 4 2212352 2212352 + Silent SNP C C A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 4 2212352 2212352 C A SNP C4orf15 NM_024511 human genbank 54_36p -1 predicted silent c.120 p.L40 1.000 NULL NULL - no_errors LOC100133966 0 genome.wustl.edu 36 1 4637338 4637338 + Silent SNP A G G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 1 4637338 4637338 A G SNP LOC100133966 XM_001716655 human genbank 54_36p -1 model silent c.192 p.I64 0.103 NULL NULL - no_start_codon:pseudogene:no_stop_codon ACER1 125981 genome.wustl.edu 36 19 6284533 6284533 + Silent SNP G A A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 19 6284533 6284533 G A SNP ACER1 NM_133492 human genbank 54_36p -1 validated silent c.30 p.S10 0.974 HMMPfam_aPHC HMMPfam_aPHC - no_errors XKR5 389610 genome.wustl.edu 36 8 6677656 6677656 + Missense_Mutation SNP A A G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 8 6677656 6677656 A G SNP XKR5 NM_207411 human genbank 54_36p -1 validated missense c.235 p.W79R 1.000 HMMPfam_XK-related HMMPfam_XK-related - no_errors TP53 7157 genome.wustl.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 17 7519128 7519128 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176F 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors LOC100130675 0 genome.wustl.edu 36 4 9198027 9198027 + RNA SNP T T C novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 4 9198027 9198027 T C SNP LOC100130675 XR_037220 human genbank 54_36p -1 model rna NULL NULL 0.003 - - - pseudogene LOC100132768 0 genome.wustl.edu 36 X 9337318 9337318 + RNA SNP T C C novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 X 9337318 9337318 T C SNP LOC100132768 XR_037393 human genbank 54_36p +1 model rna NULL NULL 0.939 - - - pseudogene UEVLD 55293 genome.wustl.edu 36 11 18522788 18522788 + Missense_Mutation SNP C C G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 11 18522788 18522788 C G SNP UEVLD NM_001040697 human genbank 54_36p -1 validated missense c.1018 p.G340R 0.993 superfamily_LDH C-terminal domain-like superfamily_UBC-like,HMMPfam_UEV,superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Ldh_1_N,superfamily_LDH C-terminal domain-like,HMMPfam_Ldh_1_C - no_errors LOC100132238 0 genome.wustl.edu 36 14 18895369 18895369 + RNA SNP G A A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 14 18895369 18895369 G A SNP LOC100132238 XR_037326 human genbank 54_36p -1 model rna NULL NULL 0.040 - - - pseudogene NPC1 4864 genome.wustl.edu 36 18 19368408 19368408 + Silent SNP G A A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 18 19368408 19368408 G A SNP NPC1 NM_000271 human genbank 54_36p -1 validated silent c.3591 p.S1197 0.895 HMMPfam_Patched,superfamily_SSF82866 HMMPfam_Patched,superfamily_SSF82866 - no_errors GGT5 2687 genome.wustl.edu 36 22 22952737 22952737 + Splice_Site SNP T T C novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 22 22952737 22952737 T C SNP GGT5 NM_001099781 human genbank 54_36p -1 reviewed splice_site c.902-2 e7-2 0.994 - - - no_errors MYO18A 399687 genome.wustl.edu 36 17 24470489 24470489 + Missense_Mutation SNP C C G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 17 24470489 24470489 C G SNP MYO18A NM_078471 human genbank 54_36p -1 validated missense c.1819 p.G607R 0.985 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin - no_errors PLAA 9373 genome.wustl.edu 36 9 26896068 26896068 + Missense_Mutation SNP A A G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 9 26896068 26896068 A G SNP PLAA NM_001031689 human genbank 54_36p -1 validated missense c.1829 p.V610A 1.000 HMMPfam_PUL,superfamily_ARM-type_fold PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMPfam_PFU,HMMPfam_PUL,superfamily_ARM-type_fold - no_errors C9orf11 54586 genome.wustl.edu 36 9 27284324 27284324 + Silent SNP A A T novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 9 27284324 27284324 A T SNP C9orf11 NM_020641 human genbank 54_36p -1 provisional silent c.279 p.A93 0.000 NULL NULL - no_errors EPB41 2035 genome.wustl.edu 36 1 29186780 29186780 + Missense_Mutation SNP C C G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 1 29186780 29186780 C G SNP EPB41 NM_203343 human genbank 54_36p +1 validated missense c.244 p.L82V 1.000 NULL HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C,HMMPfam_FA,HMMPfam_SAB,HMMPfam_4_1_CTD - no_errors PDE1C 5137 genome.wustl.edu 36 7 31885163 31885163 + Silent SNP G G A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 7 31885163 31885163 G A SNP PDE1C NM_005020 human genbank 54_36p -1 provisional silent c.396 p.H132 0.998 HMMPfam_PDEase_I_N HMMPfam_PDEase_I_N,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors SCN5A 6331 genome.wustl.edu 36 3 38593274 38593274 + Silent SNP G A A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 3 38593274 38593274 G A SNP SCN5A NM_001099404 human genbank 54_36p -1 reviewed silent c.3393 p.T1131 0.004 HMMPfam_Na_trans_assoc,superfamily_Voltage-gated potassium channels superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMPfam_IQ - no_errors SNAP23 8773 genome.wustl.edu 36 15 40594771 40594771 + Missense_Mutation SNP G G A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 15 40594771 40594771 G A SNP SNAP23 NM_003825 human genbank 54_36p +1 reviewed missense c.193 p.D65N 1.000 HMMSmart_SM00397 HMMSmart_SM00397,HMMPfam_SNAP-25,HMMPfam_SNARE - no_errors TUBGCP4 27229 genome.wustl.edu 36 15 41456534 41456534 + Missense_Mutation SNP C C G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 15 41456534 41456534 C G SNP TUBGCP4 NM_014444 human genbank 54_36p +1 provisional missense c.361 p.H121D 1.000 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors MGC42105 167359 genome.wustl.edu 36 5 43312983 43312983 + Silent SNP A A C novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 5 43312983 43312983 A C SNP MGC42105 NM_153361 human genbank 54_36p +1 provisional silent c.360 p.R120 0.809 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors LRCH1 23143 genome.wustl.edu 36 13 46167109 46167109 + Missense_Mutation SNP A A G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 13 46167109 46167109 A G SNP LRCH1 NM_015116 human genbank 54_36p +1 provisional missense c.1201 p.T401A 0.022 NULL superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00364,PatternScan_PTS_HPR_SER,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033 - no_errors NFXL1 152518 genome.wustl.edu 36 4 47600022 47600022 + Missense_Mutation SNP G G T novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 4 47600022 47600022 G T SNP NFXL1 NM_152995 human genbank 54_36p -1 validated missense c.592 p.L198I 1.000 superfamily_RING/U-box,PatternScan_ZF_PHD_1 superfamily_RING/U-box,PatternScan_ZF_PHD_1,HMMPfam_zf-NF-X1,HMMSmart_SM00438 - no_errors TTLL8 164714 genome.wustl.edu 36 22 48830674 48830674 + Missense_Mutation SNP G A A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 22 48830674 48830674 G A SNP TTLL8 NM_001080447 human genbank 54_36p -1 provisional missense c.181 p.R61W 0.000 NULL HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like - no_errors DMXL2 23312 genome.wustl.edu 36 15 49528672 49528672 + Missense_Mutation SNP A A C novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 15 49528672 49528672 A C SNP DMXL2 NM_015263 human genbank 54_36p -1 validated missense c.8912 p.L2971W 1.000 superfamily_WD40 repeat-like superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors KLHL31 401265 genome.wustl.edu 36 6 53626936 53626936 + Missense_Mutation SNP C C T novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 6 53626936 53626936 C T SNP KLHL31 NM_001003760 human genbank 54_36p -1 validated missense c.1094 p.G365E 1.000 superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1 superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMPfam_Kelch_2,HMMSmart_Kelch,HMMPfam_Kelch_1 - no_errors OR5D14 219436 genome.wustl.edu 36 11 55319733 55319733 + Silent SNP A A G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 11 55319733 55319733 A G SNP OR5D14 NM_001004735 human genbank 54_36p +1 provisional silent c.126 p.V42 0.011 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR8K3 219473 genome.wustl.edu 36 11 55842846 55842846 + Missense_Mutation SNP T T A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 11 55842846 55842846 T A SNP OR8K3 NM_001005202 human genbank 54_36p +1 provisional missense c.488 p.I163N 0.005 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors AGAP2 116986 genome.wustl.edu 36 12 56409737 56409737 + Nonsense_Mutation SNP T T A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 12 56409737 56409737 T A SNP AGAP2 NM_014770 human genbank 54_36p -1 validated nonsense c.1501 p.K501* 0.991 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMPfam_Miro,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Ankyrin repeat,HMMPfam_Ank - no_errors GCNT3 9245 genome.wustl.edu 36 15 57698085 57698085 + Missense_Mutation SNP T T C novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 15 57698085 57698085 T C SNP GCNT3 NM_004751 human genbank 54_36p +1 reviewed missense c.356 p.F119S 0.966 NULL HMMPfam_Branch - no_errors ZNF835 90485 genome.wustl.edu 36 19 61866932 61866932 + Missense_Mutation SNP A A C novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 19 61866932 61866932 A C SNP ZNF835 NM_001005850 human genbank 54_36p -1 provisional missense c.1513 p.F505V 1.000 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 C19orf18 147685 genome.wustl.edu 36 19 63164714 63164714 + Missense_Mutation SNP T T G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 19 63164714 63164714 T G SNP C19orf18 NM_152474 human genbank 54_36p -1 predicted missense c.389 p.E130A 0.801 NULL NULL - no_errors DPP8 54878 genome.wustl.edu 36 15 63546515 63546515 + Nonsense_Mutation SNP C C A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 15 63546515 63546515 C A SNP DPP8 NM_197960 human genbank 54_36p -1 reviewed nonsense c.1684 p.E562* 1.000 superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9 - no_errors ENSG00000221127 0 genome.wustl.edu 36 9 66598415 66598415 + RNA SNP A A G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 9 66598415 66598415 A G SNP ENSG00000221127 ENST00000408200 human ensembl 54_36p -1 novel rna NULL NULL 0.000 - - - no_errors DYSF 8291 genome.wustl.edu 36 2 71763254 71763254 + Missense_Mutation SNP T T G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 2 71763254 71763254 T G SNP DYSF NM_003494 human genbank 54_36p +1 reviewed missense c.6143 p.I2048S 1.000 NULL HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerA,HMMPfam_FerB,HMMSmart_SM00693,HMMSmart_SM00694 - no_errors SGK269 79834 genome.wustl.edu 36 15 75212582 75212582 + Silent SNP C C T novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 15 75212582 75212582 C T SNP SGK269 NM_024776 human genbank 54_36p -1 validated silent c.3897 p.K1299 1.000 NULL PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_TYR - no_errors PSMC1 5700 genome.wustl.edu 36 14 89796211 89796211 + Splice_Site SNP G G A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 14 89796211 89796211 G A SNP PSMC1 NM_002802 human genbank 54_36p +1 reviewed splice_site c.58-1 e3-1 1.000 - - - no_errors TSPYL5 85453 genome.wustl.edu 36 8 98358577 98358577 + Silent SNP A A G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 8 98358577 98358577 A G SNP TSPYL5 NM_033512 human genbank 54_36p -1 validated silent c.672 p.L224 0.115 HMMPfam_NAP HMMPfam_NAP - no_errors ARPC1B 10095 genome.wustl.edu 36 7 98823719 98823719 + Silent SNP G G T novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 7 98823719 98823719 G T SNP ARPC1B NM_005720 human genbank 54_36p +1 reviewed silent c.291 p.R97 0.945 superfamily_WD40 repeat-like,HMMSmart_SM00320 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors TET2 54790 genome.wustl.edu 36 4 106376743 106376743 + Missense_Mutation SNP C C A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 4 106376743 106376743 C A SNP TET2 NM_017628 human genbank 54_36p +1 validated missense c.2195 p.P732Q 0.000 NULL NULL - no_errors MYO16 23026 genome.wustl.edu 36 13 108408112 108408112 + Missense_Mutation SNP G G C novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 13 108408112 108408112 G C SNP MYO16 NM_015011 human genbank 54_36p +1 validated missense c.1935 p.L645F 0.995 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ - no_errors GLI2 2736 genome.wustl.edu 36 2 121425470 121425470 + Missense_Mutation SNP A A G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 2 121425470 121425470 A G SNP GLI2 NM_005270 human genbank 54_36p +1 reviewed missense c.436 p.R146G 1.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors SMARCA1 6594 genome.wustl.edu 36 X 128451806 128451806 + Missense_Mutation SNP G G C novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 X 128451806 128451806 G C SNP SMARCA1 NM_003069 human genbank 54_36p -1 reviewed missense c.1860 p.F620L 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HAND,superfamily_HAND domain of the nucleosome remodeling ATPase ISWI,HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_SLIDE - no_errors BCORL1 63035 genome.wustl.edu 36 X 128974729 128974729 + Missense_Mutation SNP C C G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 X 128974729 128974729 C G SNP BCORL1 NM_021946 human genbank 54_36p +1 validated missense c.300 p.D100E 1.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors TXLNB 167838 genome.wustl.edu 36 6 139651433 139651433 + Missense_Mutation SNP A A T novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 6 139651433 139651433 A T SNP TXLNB NM_153235 human genbank 54_36p -1 validated missense c.297 p.D99E 0.147 NULL HMMPfam_Taxilin - no_errors DCHS2 54798 genome.wustl.edu 36 4 155461375 155461375 + Missense_Mutation SNP C C G novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 4 155461375 155461375 C G SNP DCHS2 NM_017639 human genbank 54_36p -1 validated missense c.3261 p.L1087F 1.000 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1 - no_errors LEKR1 389170 genome.wustl.edu 36 3 158246036 158246036 + Missense_Mutation SNP G G C novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 3 158246036 158246036 G C SNP LEKR1 NM_001004316 human genbank 54_36p +1 provisional missense c.970 p.E324Q 0.543 NULL NULL - no_errors SEC16B 89866 genome.wustl.edu 36 1 176177661 176177661 + Silent SNP G G T novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 1 176177661 176177661 G T SNP SEC16B NM_033127 human genbank 54_36p -1 validated silent c.2019 p.I673 1.000 PatternScan_PHOSPHOPANTETHEINE PatternScan_PHOSPHOPANTETHEINE - no_errors PDLIM3 27295 genome.wustl.edu 36 4 186664751 186664751 + Missense_Mutation SNP G G T novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 4 186664751 186664751 G T SNP PDLIM3 NM_014476 human genbank 54_36p -1 reviewed missense c.712 p.H238N 1.000 NULL superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMSmart_SM00735,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM - no_errors RGS2 5997 genome.wustl.edu 36 1 191046765 191046765 + Silent SNP G G A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 1 191046765 191046765 G A SNP RGS2 NM_002923 human genbank 54_36p +1 provisional silent c.306 p.K102 0.994 superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS - no_errors DNAH7 56171 genome.wustl.edu 36 2 196479677 196479677 + Missense_Mutation SNP G G T novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 2 196479677 196479677 G T SNP DNAH7 NM_018897 human genbank 54_36p -1 validated missense c.4286 p.T1429K 0.998 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382 HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,PatternScan_EF_HAND_1,HMMPfam_Dynein_heavy,PatternScan_ADH_SHORT - no_errors LOC645805 645805 genome.wustl.edu 36 2 202774338 202774338 + RNA SNP C C T novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 2 202774338 202774338 C T SNP LOC645805 XR_016981 human genbank 54_36p -1 model rna NULL NULL 0.056 - - - pseudogene LOC100134324 0 genome.wustl.edu 36 X 565488 565492 + Frame_Shift_Del DEL TTTCT TTTCT - novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 TTTCT TTTCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 X 565488 565492 TTTCT - DEL LOC100134324 XM_001716092 human genbank 54_36p -1 model frame_shift_del c.477_473 p.K158fs 0.002:0.002:0.001:0.001:0.002 NULL NULL (deletion:cds_exon[565447,565827]) no_start_codon:pseudogene:no_stop_codon ENSG00000215099 0 genome.wustl.edu 36 17 5275626 5275628 + In_Frame_Del DEL CCA CCA - novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 CCA CCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 17 5275626 5275628 CCA - DEL ENSG00000215099 ENST00000399576 human ensembl 54_36p +1 known in_frame_del c.481_483 p.P161in_frame_del 0.087:0.107:0.107 NULL NULL (deletion:cds_exon[5275602,5275700]) no_errors ENSG00000209636 0 genome.wustl.edu 36 16 11565960 11565961 + RNA INS - - T novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 16 11565960 11565961 - T INS ENSG00000209636 ENST00000386901 human ensembl 54_36p -1 novel rna NULL NULL 0.976:0.989 - - - pseudogene ADAMTS1 9510 genome.wustl.edu 36 21 27135344 27135345 + Frame_Shift_Ins INS - - A novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 21 27135344 27135345 - A INS ADAMTS1 NM_006988 human genbank 54_36p -1 reviewed frame_shift_ins c.1222_1221 p.N407fs 1.000:0.998 superfamily_SSF55486,HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE PatternScan_DISINTEGRIN_1,HMMPfam_Pep_M12B_propep,superfamily_SSF55486,HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE,HMMSmart_ACR,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1 - no_errors C6orf10 10665 genome.wustl.edu 36 6 32425901 32425904 + Frame_Shift_Del DEL TTTC TTTC - novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 TTTC TTTC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 6 32425901 32425904 TTTC - DEL C6orf10 ENST00000375002 human ensembl 54_36p -1 known frame_shift_del c.221_218 p.R73fs 0.017:0.017:0.014:0.010 NULL NULL (deletion:cds_exon[32425880,32425916]) no_errors LOC100134632 0 genome.wustl.edu 36 7 32813186 32813190 + Frame_Shift_Del DEL AGAAG AGAAG - novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 AGAAG AGAAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 7 32813186 32813190 AGAAG - DEL LOC100134632 XM_001718532 human genbank 54_36p +1 model frame_shift_del c.146_150 p.R51fs 0.014:0.014:0.012:0.008:0.006 NULL NULL (deletion:cds_exon[32813088,32813283]) no_start_codon:pseudogene:no_stop_codon MELK 9833 genome.wustl.edu 36 9 36655487 36655488 + Frame_Shift_Del DEL TA TA - novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 TA TA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 9 36655487 36655488 TA - DEL MELK NM_014791 human genbank 54_36p +1 provisional frame_shift_del c.1317_1318 p.M440fs 0.212:0.184 NULL superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SSF103243,HMMPfam_KA1 (deletion:cds_exon[36655347,36655578]) no_errors BRCA1 672 genome.wustl.edu 36 17 38500192 38500192 + Frame_Shift_Del DEL T T - novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 17 38500192 38500192 T - DEL BRCA1 NM_007294 human genbank 54_36p -1 reviewed frame_shift_del c.882 p.D295fs 0.927 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain (deletion:cds_exon[38496978,38500403]) no_errors LENG9 94059 genome.wustl.edu 36 19 59665801 59665803 + In_Frame_Del DEL CCT CCT - novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 CCT CCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 19 59665801 59665803 CCT - DEL LENG9 NM_198988 human genbank 54_36p -1 validated in_frame_del c.721_719 p.E240in_frame_del 0.000:0.000:0.000 NULL HMMPfam_zf-CCCH,superfamily_Cyc_nuc_Pdiester (deletion:cds_exon[59665082,59666521]) no_errors SPTBN2 6712 genome.wustl.edu 36 11 66215459 66215459 + Frame_Shift_Del DEL C C - novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 11 66215459 66215459 C - DEL SPTBN2 NM_006946 human genbank 54_36p -1 validated frame_shift_del c.5437 p.A1813fs 0.992 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 (deletion:cds_exon[66215331,66215705]) no_errors LOC100128366 0 genome.wustl.edu 36 14 104202555 104202556 + RNA DEL CA CA - novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 CA CA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 14 104202555 104202556 CA - DEL LOC100128366 XR_039745 human genbank 54_36p -1 model rna NULL NULL 0.000:0.000 - - (deletion:rna[104202300,104202934]) pseudogene PTS 5805 genome.wustl.edu 36 11 111606573 111606578 + In_Frame_Del DEL GGGAAT GGGAAT - novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 GGGAAT GGGAAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 11 111606573 111606578 GGGAAT - DEL PTS NM_000317 human genbank 54_36p +1 reviewed in_frame_del c.201_206 p.GM68in_frame_del 1.000:1.000:1.000:0.993:1.000:1.000 HMMPfam_PTPS,superfamily_Tetrahydrobiopterin biosynthesis enzymes-like HMMPfam_PTPS,superfamily_Tetrahydrobiopterin biosynthesis enzymes-like,PatternScan_PTPS_1,PatternScan_PTPS_2,PatternScan_WD_REPEATS_1 (deletion:cds_exon[111606559,111606615]) no_errors PCDH12 51294 genome.wustl.edu 36 5 141305139 141305140 + In_Frame_Ins INS - - CTGCTGCTG novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 5 141305139 141305140 - CTGCTGCTG INS PCDH12 NM_016580 human genbank 54_36p -1 reviewed in_frame_ins c.3546_3545 p.1182in_frame_insSSS 0.391:0.998 NULL superfamily_Cadherin,HMMPfam_Cadherin_2,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors LOC645944 645944 genome.wustl.edu 36 5 178441957 178441958 + RNA INS - - TCTT novel unknown TCGA-29-1768-01A-01W-0633-09 TCGA-29-1768-10A-01W-0634-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bde7b115-28f2-4475-862b-d07187de8cb5 7165cabf-882f-4999-a7ff-c14a275f0670 5 178441957 178441958 - TCTT INS LOC645944 XR_017227 human genbank 54_36p -1 model rna NULL NULL 0.011:0.008 - - - pseudogene