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 TUBB8 347688 genome.wustl.edu 36 10 83505 83505 + Missense_Mutation SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 10 83505 83505 C T SNP TUBB8 NM_177987 human genbank 54_36p -1 provisional missense c.827 p.R276Q 1.000 superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin_FtsZ,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C - no_errors PIGG 54872 genome.wustl.edu 36 4 514364 514364 + Missense_Mutation SNP T T G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 4 514364 514364 T G SNP PIGG NM_017733 human genbank 54_36p +1 validated missense c.2377 p.L793V 0.473 NULL superfamily_Alkaline_phosphatase_core - no_errors IFT140 9742 genome.wustl.edu 36 16 1573337 1573337 + Missense_Mutation SNP C C G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 16 1573337 1573337 C G SNP IFT140 NM_014714 human genbank 54_36p -1 validated missense c.1411 p.G471R 0.856 superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMSmart_SM00320,HMMPfam_WD40,superfamily_TPR-like - no_errors RFX3 5991 genome.wustl.edu 36 9 3215132 3215132 + Silent SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 9 3215132 3215132 G A SNP RFX3 NM_134428 human genbank 54_36p -1 reviewed silent c.2160 p.L720 1.000 NULL "HMMPfam_RFX1_trans_act,HMMPfam_RFX_DNA_binding,superfamily_""Winged helix"" DNA-binding domain" - no_errors TUBAL3 79861 genome.wustl.edu 36 10 5426132 5426132 + Missense_Mutation SNP G G T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 10 5426132 5426132 G T SNP TUBAL3 NM_024803 human genbank 54_36p -1 validated missense c.689 p.S230Y 1.000 superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C - no_errors PMS2 5395 genome.wustl.edu 36 7 5984780 5984780 + Missense_Mutation SNP C C A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 7 5984780 5984780 C A SNP PMS2 NM_000535 human genbank 54_36p -1 reviewed missense c.2248 p.G750C 1.000 HMMPfam_MutL_C superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HATPase_c,PatternScan_DNA_MISMATCH_REPAIR_1,superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_DNA_mis_repair,HMMPfam_MutL_C - no_errors TNFRSF1A 7132 genome.wustl.edu 36 12 6308739 6308739 + Nonstop_Mutation SNP T T A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 12 6308739 6308739 T A SNP TNFRSF1A NM_001065 human genbank 54_36p -1 reviewed nonstop c.1368 p.*456C 0.010 NULL superfamily_TNF receptor-like,HMMPfam_TNFR_c6,HMMSmart_SM00208,PatternScan_TNFR_NGFR_1,PatternScan_EGF_2,superfamily_DEATH domain,HMMSmart_SM00005,HMMPfam_Death - no_errors TP53 7157 genome.wustl.edu 36 17 7518915 7518915 + Missense_Mutation SNP T T C novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 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 ARHGEF15 22899 genome.wustl.edu 36 17 8159471 8159471 + Silent SNP G G T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 17 8159471 8159471 G T SNP ARHGEF15 NM_173728 human genbank 54_36p +1 reviewed silent c.1275 p.V425 1.000 superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF PatternScan_DH_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729 - no_errors MUC16 94025 genome.wustl.edu 36 19 8935909 8935909 + Silent SNP T T C novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 19 8935909 8935909 T C SNP MUC16 NM_024690 human genbank 54_36p -1 validated silent c.12537 p.Q4179 0.000 NULL PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors FARSA 2193 genome.wustl.edu 36 19 12895963 12895963 + Splice_Site SNP A A T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 19 12895963 12895963 A T SNP FARSA NM_004461 human genbank 54_36p -1 validated splice_site c.1388+2 e12+2 1.000 - - - no_errors XPC 7508 genome.wustl.edu 36 3 14174831 14174831 + Missense_Mutation SNP C C G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 3 14174831 14174831 C G SNP XPC ENST00000285021 human ensembl 54_36p -1 known missense c.1548 p.E516D 0.748 HMMPfam_Rad4 HMMPfam_Rad4,HMMPfam_BHD_1,HMMPfam_BHD_2,HMMPfam_BHD_3 - no_errors PADI4 23569 genome.wustl.edu 36 1 17537164 17537164 + Silent SNP G A A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 1 17537164 17537164 G A SNP PADI4 NM_012387 human genbank 54_36p +1 reviewed silent c.453 p.L151 1.000 HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain HMMPfam_PAD_N,superfamily_Cupredoxins,HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain,HMMPfam_PAD,superfamily_Pentein - no_errors ZNF74 7625 genome.wustl.edu 36 22 19090473 19090473 + Missense_Mutation SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 22 19090473 19090473 G A SNP ZNF74 NM_003426 human genbank 54_36p +1 validated missense c.1150 p.G384S 0.946 superfamily_C2H2 and C2HC zinc fingers superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ENSG00000207834 0 genome.wustl.edu 36 22 21336933 21336933 + RNA SNP C C A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 22 21336933 21336933 C A SNP ENSG00000207834 ENST00000385099 human ensembl 54_36p +1 novel rna NULL NULL 0.124 - - - no_errors ACIN1 22985 genome.wustl.edu 36 14 22618971 22618971 + Silent SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 14 22618971 22618971 G A SNP ACIN1 NM_014977 human genbank 54_36p -1 validated silent c.1587 p.L529 0.388 NULL superfamily_SAP domain,HMMPfam_SAP,HMMSmart_SM00513,superfamily_RNA-binding domain RBD - no_errors SNORD115-18 0 genome.wustl.edu 36 15 22999533 22999533 + RNA SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 15 22999533 22999533 G A SNP SNORD115-18 NR_003310 human genbank 54_36p +1 provisional rna NULL NULL 0.884 - - - no_errors RAB34 83871 genome.wustl.edu 36 17 24067148 24067148 + Missense_Mutation SNP G G T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 17 24067148 24067148 G T SNP RAB34 NM_031934 human genbank 54_36p -1 validated missense c.202 p.L68I 1.000 HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00175,HMMSmart_SM00174,HMMSmart_SM00176 HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ras,HMMSmart_SM00175,HMMSmart_SM00174,HMMSmart_SM00176 - no_errors SEZ6L 23544 genome.wustl.edu 36 22 25018600 25018600 + Missense_Mutation SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 22 25018600 25018600 G A SNP SEZ6L NM_021115 human genbank 54_36p +1 validated missense c.323 p.R108H 0.000 NULL superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB - no_errors LRMP 4033 genome.wustl.edu 36 12 25148576 25148576 + Nonsense_Mutation SNP C C G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 12 25148576 25148576 C G SNP LRMP NM_006152 human genbank 54_36p +1 reviewed nonsense c.1061 p.S354* 1.000 HMMPfam_MRVI1 HMMPfam_MRVI1 - no_errors GPR113 165082 genome.wustl.edu 36 2 26388228 26388228 + Silent SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 2 26388228 26388228 G A SNP GPR113 NM_153835 human genbank 54_36p -1 validated silent c.1275 p.S425 0.002 NULL HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors MAP3K6 9064 genome.wustl.edu 36 1 27563419 27563419 + Silent SNP C C G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 1 27563419 27563419 C G SNP MAP3K6 NM_004672 human genbank 54_36p -1 reviewed silent c.558 p.R186 0.942 NULL HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SAM/Pointed domain - no_errors C20orf112 140688 genome.wustl.edu 36 20 30507655 30507655 + Missense_Mutation SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 20 30507655 30507655 G A SNP C20orf112 NM_080616 human genbank 54_36p -1 validated missense c.314 p.S105F 0.499 NULL PatternScan_ILVD_EDD_1 - no_errors TMPPE 0 genome.wustl.edu 36 3 33110661 33110661 + Missense_Mutation SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 3 33110661 33110661 C T SNP TMPPE NM_001039770 human genbank 54_36p -1 validated missense c.31 p.A11T 0.002 NULL HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases - no_errors LOC647211 647211 genome.wustl.edu 36 16 33316166 33316166 + RNA SNP T T A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 16 33316166 33316166 T A SNP LOC647211 XR_017499 human genbank 54_36p +1 model rna NULL NULL 0.532 - - - pseudogene TBC1D22B 55633 genome.wustl.edu 36 6 37360165 37360165 + Missense_Mutation SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 6 37360165 37360165 G A SNP TBC1D22B NM_017772 human genbank 54_36p +1 validated missense c.748 p.E250K 1.000 superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164 superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164 - no_errors CDCA8 55143 genome.wustl.edu 36 1 37938723 37938723 + Missense_Mutation SNP G G T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 1 37938723 37938723 G T SNP CDCA8 NM_018101 human genbank 54_36p +1 validated missense c.366 p.M122I 0.990 HMMPfam_Borealin HMMPfam_Borealin - no_errors PSMC3IP 29893 genome.wustl.edu 36 17 37978699 37978699 + Missense_Mutation SNP C C G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 17 37978699 37978699 C G SNP PSMC3IP ENST00000393795 human ensembl 54_36p -1 known missense c.548 p.C183S 0.966 NULL HMMPfam_TBPIP - no_errors EGFLAM 133584 genome.wustl.edu 36 5 38444922 38444922 + Missense_Mutation SNP T T A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 5 38444922 38444922 T A SNP EGFLAM NM_152403 human genbank 54_36p +1 validated missense c.1308 p.D436E 0.995 superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_1 superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_EGF,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,HMMSmart_LamG,HMMPfam_Laminin_G_1,HMMPfam_EGF,PatternScan_EGF_2,HMMPfam_Laminin_G_2 - no_errors DSCAM 1826 genome.wustl.edu 36 21 40336436 40336436 + Silent SNP A A G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 21 40336436 40336436 A G SNP DSCAM NM_001389 human genbank 54_36p -1 validated silent c.5418 p.S1806 1.000 NULL superfamily_Immunoglobulin,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00406,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors NHP2L1 4809 genome.wustl.edu 36 22 40401107 40401107 + Missense_Mutation SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 22 40401107 40401107 C T SNP NHP2L1 NM_001003796 human genbank 54_36p -1 reviewed missense c.163 p.V55M 1.000 superfamily_L30e-like,HMMPfam_Ribosomal_L7Ae superfamily_L30e-like,HMMPfam_Ribosomal_L7Ae,PatternScan_RIBOSOMAL_L7AE - no_errors COL9A2 1298 genome.wustl.edu 36 1 40549798 40549798 + Silent SNP C C A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 1 40549798 40549798 C A SNP COL9A2 NM_001852 human genbank 54_36p -1 reviewed silent c.480 p.P160 0.592 HMMPfam_Collagen HMMPfam_Collagen - no_errors SPG11 80208 genome.wustl.edu 36 15 42675808 42675808 + Missense_Mutation SNP T T G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 15 42675808 42675808 T G SNP SPG11 NM_025137 human genbank 54_36p -1 reviewed missense c.4199 p.Q1400P 0.996 NULL PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors ZNF662 389114 genome.wustl.edu 36 3 42931003 42931003 + Missense_Mutation SNP G G T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 3 42931003 42931003 G T SNP ZNF662 NM_207404 human genbank 54_36p +1 validated missense c.434 p.G145V 0.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LOC644589 644589 genome.wustl.edu 36 14 44829155 44829155 + RNA SNP C C G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 14 44829155 44829155 C G SNP LOC644589 XR_038836 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene LTBP4 8425 genome.wustl.edu 36 19 45821357 45821357 + Missense_Mutation SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 19 45821357 45821357 G A SNP LTBP4 ENST00000308370 human ensembl 54_36p +1 known missense c.3763 p.E1255K 1.000 PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,superfamily_SSF57196 superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,superfamily_Fibril-assoc,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,superfamily_Grow_fac_recept - no_errors ARHGEF1 9138 genome.wustl.edu 36 19 47101806 47101806 + Silent SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 19 47101806 47101806 G A SNP ARHGEF1 NM_199002 human genbank 54_36p +1 reviewed silent c.2436 p.T812 0.523 NULL HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,HMMSmart_PH - no_errors C6orf138 442213 genome.wustl.edu 36 6 48084560 48084560 + Missense_Mutation SNP A A T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 6 48084560 48084560 A T SNP C6orf138 NM_001013732 human genbank 54_36p -1 validated missense c.625 p.F209I 1.000 HMMPfam_Patched,superfamily_SSF82866 HMMPfam_Patched,superfamily_SSF82866 - no_errors TFAP2B 7021 genome.wustl.edu 36 6 50918784 50918784 + Missense_Mutation SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 6 50918784 50918784 C T SNP TFAP2B NM_003221 human genbank 54_36p +1 reviewed missense c.1103 p.T368M 1.000 HMMPfam_TF_AP-2 HMMPfam_TF_AP-2 - no_errors PNMAL2 0 genome.wustl.edu 36 19 51689384 51689384 + Silent SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 19 51689384 51689384 C T SNP PNMAL2 NM_020709 human genbank 54_36p -1 validated silent c.1179 p.A393 0.035 NULL NULL - no_errors RGS20 8601 genome.wustl.edu 36 8 55033511 55033511 + Missense_Mutation SNP G G C novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 8 55033511 55033511 G C SNP RGS20 NM_170587 human genbank 54_36p +1 validated missense c.1107 p.M369I 1.000 superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315 superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315 - no_errors OR8I2 120586 genome.wustl.edu 36 11 55618199 55618199 + Silent SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 11 55618199 55618199 C T SNP OR8I2 NM_001003750 human genbank 54_36p +1 provisional silent c.840 p.V280 0.875 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SIGLEC8 27181 genome.wustl.edu 36 19 56650556 56650556 + Missense_Mutation SNP T T A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 19 56650556 56650556 T A SNP SIGLEC8 NM_014442 human genbank 54_36p -1 validated missense c.979 p.T327S 0.419 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig - no_errors TNKS1BP1 85456 genome.wustl.edu 36 11 56824958 56824958 + Missense_Mutation SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 11 56824958 56824958 G A SNP TNKS1BP1 NM_033396 human genbank 54_36p -1 validated missense c.5105 p.P1702L 0.999 NULL NULL - no_errors ZNF831 128611 genome.wustl.edu 36 20 57204379 57204379 + Missense_Mutation SNP A A G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 20 57204379 57204379 A G SNP ZNF831 NM_178457 human genbank 54_36p +1 provisional missense c.3799 p.K1267E 0.989 NULL superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors DAB1 1600 genome.wustl.edu 36 1 57249459 57249459 + Missense_Mutation SNP C C A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 1 57249459 57249459 C A SNP DAB1 NM_021080 human genbank 54_36p -1 reviewed missense c.1519 p.D507Y 1.000 NULL superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID - no_errors C20orf177 63939 genome.wustl.edu 36 20 57952905 57952905 + Missense_Mutation SNP T T G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 20 57952905 57952905 T G SNP C20orf177 NM_022106 human genbank 54_36p +1 predicted missense c.512 p.V171G 0.000 NULL NULL - no_errors ZP1 22917 genome.wustl.edu 36 11 60397763 60397763 + Missense_Mutation SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 11 60397763 60397763 G A SNP ZP1 NM_207341 human genbank 54_36p +1 validated missense c.1511 p.R504Q 1.000 HMMPfam_Zona_pellucida,HMMSmart_ZP superfamily_P_trefoil,PatternScan_P_TREFOIL,HMMPfam_Zona_pellucida,HMMSmart_ZP,PatternScan_ZP_1 - no_errors DIDO1 11083 genome.wustl.edu 36 20 61013010 61013010 + Missense_Mutation SNP C C G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 20 61013010 61013010 C G SNP DIDO1 NM_033081 human genbank 54_36p -1 reviewed missense c.400 p.E134Q 0.239 NULL HMMSmart_SM00249,HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,superfamily_FYVE/PHD zinc finger,HMMPfam_SPOC,HMMSmart_SM00510,PatternScan_ZF_PHD_1,HMMPfam_PHD - no_errors ESR2 2100 genome.wustl.edu 36 14 63805266 63805266 + Missense_Mutation SNP C C A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 14 63805266 63805266 C A SNP ESR2 NM_001437 human genbank 54_36p -1 reviewed missense c.652 p.G218C 1.000 superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_zf-C4,superfamily_Nuclear receptor ligand-binding domain HMMSmart_SM00399,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_zf-C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep - no_errors ELMO3 79767 genome.wustl.edu 36 16 65790763 65790763 + Silent SNP C T T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 16 65790763 65790763 C T SNP ELMO3 NM_024712 human genbank 54_36p +1 reviewed silent c.192 p.A64 0.994 NULL HMMPfam_ELMO_CED12,superfamily_SSF50729,HMMSmart_PH - no_errors HYDIN 54768 genome.wustl.edu 36 16 69616823 69616823 + Silent SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 16 69616823 69616823 C T SNP HYDIN NM_032821 human genbank 54_36p -1 validated silent c.3150 p.Q1050 0.509 NULL superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors MYO9A 4649 genome.wustl.edu 36 15 69957471 69957471 + Missense_Mutation SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 15 69957471 69957471 C T SNP MYO9A NM_006901 human genbank 54_36p -1 validated missense c.5895 p.M1965I 1.000 superfamily_Cysteine-rich domain HMMPfam_RA,HMMSmart_SM00314,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors MAMDC2 256691 genome.wustl.edu 36 9 71848950 71848950 + Missense_Mutation SNP T T C novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 9 71848950 71848950 T C SNP MAMDC2 NM_153267 human genbank 54_36p +1 validated missense c.17 p.V6A 0.618 NULL HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1 - no_errors RAB11FIP5 26056 genome.wustl.edu 36 2 73168956 73168956 + Missense_Mutation SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 2 73168956 73168956 G A SNP RAB11FIP5 NM_015470 human genbank 54_36p -1 validated missense c.1298 p.P433L 0.904 NULL superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_RBD-FIP - no_errors ENSG00000187812 0 genome.wustl.edu 36 15 73862618 73862618 + Missense_Mutation SNP G G T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 15 73862618 73862618 G T SNP ENSG00000187812 ENST00000345070 human ensembl 54_36p +1 known missense c.236 p.W79L 0.537 NULL NULL - no_start_codon:no_stop_codon XRRA1 143570 genome.wustl.edu 36 11 74233899 74233899 + Missense_Mutation SNP C C A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 11 74233899 74233899 C A SNP XRRA1 NM_182969 human genbank 54_36p -1 validated missense c.1770 p.K590N 0.000 NULL superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1 - no_errors AUP1 550 genome.wustl.edu 36 2 74608122 74608122 + Silent SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 2 74608122 74608122 G A SNP AUP1 NM_181575 human genbank 54_36p -1 reviewed silent c.945 p.V315 1.000 HMMPfam_CUE,HMMSmart_CUE HMMSmart_PlsC,HMMPfam_CUE,HMMSmart_CUE - no_errors RNF213 57674 genome.wustl.edu 36 17 75946798 75946798 + Missense_Mutation SNP T T A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 17 75946798 75946798 T A SNP RNF213 NM_020914 human genbank 54_36p +1 validated missense c.5197 p.W1733R 0.904 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 - no_errors LOC400406 400406 genome.wustl.edu 36 15 76056754 76056754 + RNA SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 15 76056754 76056754 G A SNP LOC400406 XR_042358 human genbank 54_36p +1 model rna NULL NULL 0.997 - - - pseudogene E2F5 1875 genome.wustl.edu 36 8 86308722 86308722 + Nonsense_Mutation SNP A A T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 8 86308722 86308722 A T SNP E2F5 NM_001951 human genbank 54_36p +1 reviewed nonsense c.709 p.K237* 0.998 NULL superfamily_SSF46785,HMMPfam_E2F_TDP - no_errors KIAA1324L 222223 genome.wustl.edu 36 7 86360313 86360313 + Nonsense_Mutation SNP T T A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 7 86360313 86360313 T A SNP KIAA1324L NM_152748 human genbank 54_36p -1 validated nonsense c.2005 p.K669* 1.000 NULL HMMPfam_NCD3G,superfamily_Grow_fac_recept,superfamily_Man6php_recept - no_errors SLITRK5 26050 genome.wustl.edu 36 13 87127589 87127589 + Missense_Mutation SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 13 87127589 87127589 C T SNP SLITRK5 NM_015567 human genbank 54_36p +1 validated missense c.1945 p.P649S 0.998 NULL superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRNT - no_errors COX8C 341947 genome.wustl.edu 36 14 92884181 92884181 + Missense_Mutation SNP T T C novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 14 92884181 92884181 T C SNP COX8C NM_182971 human genbank 54_36p +1 validated missense c.181 p.Y61H 0.003 HMMPfam_COX8,superfamily_Cyt_c_oxidase_8 HMMPfam_COX8,superfamily_Cyt_c_oxidase_8 - no_errors PPP4R4 57718 genome.wustl.edu 36 14 93782544 93782544 + Missense_Mutation SNP A A T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 14 93782544 93782544 A T SNP PPP4R4 NM_058237 human genbank 54_36p +1 reviewed missense c.1526 p.K509I 0.992 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT - no_errors BDKRB2 624 genome.wustl.edu 36 14 95776893 95776893 + Silent SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 14 95776893 95776893 C T SNP BDKRB2 NM_000623 human genbank 54_36p +1 reviewed silent c.475 p.L159 0.995 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors FILIP1L 11259 genome.wustl.edu 36 3 101052248 101052248 + Missense_Mutation SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 3 101052248 101052248 C T SNP FILIP1L NM_182909 human genbank 54_36p -1 validated missense c.962 p.R321H 1.000 HMMPfam_CortBP2,superfamily_Prefoldin HMMPfam_CortBP2,superfamily_Prefoldin - no_errors NXF4 55999 genome.wustl.edu 36 X 101691770 101691770 + Splice_Site SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 X 101691770 101691770 G A SNP NXF4 ENST00000360035 human ensembl 54_36p +1 known splice_site c.1+1 e0+1 0.978 - - - no_errors IL1R2 7850 genome.wustl.edu 36 2 102007525 102007525 + Missense_Mutation SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 2 102007525 102007525 G A SNP IL1R2 NM_004633 human genbank 54_36p +1 reviewed missense c.850 p.A284T 0.572 superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig - no_errors LHFPL3 375612 genome.wustl.edu 36 7 103756643 103756643 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 7 103756643 103756643 G A SNP LHFPL3 NM_199000 human genbank 54_36p +1 reviewed nonsense c.180 p.W60* 1.000 HMMPfam_L_HGMIC_fpl HMMPfam_L_HGMIC_fpl - no_errors BRF1 2972 genome.wustl.edu 36 14 104793820 104793820 + Missense_Mutation SNP T T C novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 14 104793820 104793820 T C SNP BRF1 ENST00000345053 human ensembl 54_36p -1 known missense c.551 p.Y184C 0.001 NULL HMMPfam_TFIIB_Zn_Ribbon,superfamily_Zinc beta-ribbon,superfamily_Cyclin-like,HMMSmart_SM00385,HMMPfam_TFIIB - no_errors ENSG00000220279 0 genome.wustl.edu 36 8 105463319 105463319 + Missense_Mutation SNP G A A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 8 105463319 105463319 G A SNP ENSG00000220279 ENST00000404280 human ensembl 54_36p -1 known missense c.106 p.P36S 0.001 NULL NULL - no_errors ZC3H12C 85463 genome.wustl.edu 36 11 109540580 109540580 + Silent SNP C C G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 11 109540580 109540580 C G SNP ZC3H12C NM_033390 human genbank 54_36p +1 validated silent c.1560 p.S520 0.990 NULL NULL - no_errors LOC149620 149620 genome.wustl.edu 36 1 111626469 111626469 + RNA SNP T T A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 1 111626469 111626469 T A SNP LOC149620 NR_003928 human genbank 54_36p +1 provisional rna NULL NULL 0.000 - - - pseudogene CSMD3 114788 genome.wustl.edu 36 8 113328475 113328475 + Missense_Mutation SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 8 113328475 113328475 C T SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.10172 p.R3391H 0.544 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10 - no_errors USP2 9099 genome.wustl.edu 36 11 118749076 118749076 + Missense_Mutation SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 11 118749076 118749076 C T SNP USP2 NM_004205 human genbank 54_36p -1 validated missense c.325 p.G109R 0.998 NULL superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors DMBT1 1755 genome.wustl.edu 36 10 124385624 124385624 + Missense_Mutation SNP A A C novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 10 124385624 124385624 A C SNP DMBT1 NM_007329 human genbank 54_36p +1 reviewed missense c.6289 p.I2097L 0.088 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1 - no_errors ATAD2 29028 genome.wustl.edu 36 8 124426334 124426334 + Missense_Mutation SNP C C G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 8 124426334 124426334 C G SNP ATAD2 NM_014109 human genbank 54_36p -1 reviewed missense c.2689 p.D897H 0.996 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_YL1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain - no_errors BCORL1 63035 genome.wustl.edu 36 X 128977131 128977131 + Missense_Mutation SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 X 128977131 128977131 C T SNP BCORL1 NM_021946 human genbank 54_36p +1 validated missense c.2702 p.P901L 0.001 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors LCN12 286256 genome.wustl.edu 36 9 138967193 138967193 + Missense_Mutation SNP T T G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 9 138967193 138967193 T G SNP LCN12 NM_178536 human genbank 54_36p +1 validated missense c.143 p.L48R 0.469 superfamily_Lipocalins,HMMPfam_Lipocalin superfamily_Lipocalins,HMMPfam_Lipocalin - no_errors PIK3CB 5291 genome.wustl.edu 36 3 139960866 139960866 + Missense_Mutation SNP T T A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 3 139960866 139960866 T A SNP PIK3CB NM_006219 human genbank 54_36p -1 provisional missense c.10 p.S4C 0.012 NULL HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B,superfamily_SSF54236,HMMPfam_PI3K_rbd,HMMSmart_PI3K_rbd,HMMSmart_PI3K_C2,superfamily_C2_CaLB,HMMPfam_PI3K_C2,superfamily_ARM-type_fold,HMMSmart_PI3Ka,HMMPfam_PI3Ka,superfamily_Kinase_like,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2 - no_errors SR140 23350 genome.wustl.edu 36 3 144212377 144212377 + Missense_Mutation SNP T T C novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 3 144212377 144212377 T C SNP SR140 NM_001080415 human genbank 54_36p +1 provisional missense c.76 p.S26P 1.000 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Surp module (SWAP domain Pfam 01805),HMMSmart_SM00648,HMMPfam_Surp,superfamily_ENTH/VHS domain,HMMSmart_SM00582 - no_errors CSF1R 1436 genome.wustl.edu 36 5 149415833 149415833 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 5 149415833 149415833 G A SNP CSF1R NM_005211 human genbank 54_36p -1 reviewed nonsense c.2503 p.Q835* 1.000 superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMSmart_IGc2,HMMPfam_ig,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR - no_errors AQP10 89872 genome.wustl.edu 36 1 152563499 152563499 + Silent SNP T T A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 1 152563499 152563499 T A SNP AQP10 NM_080429 human genbank 54_36p +1 reviewed silent c.825 p.A275 0.260 NULL HMMPfam_MIP,superfamily_Aquaporin-like,PatternScan_MIP - no_errors AADAC 13 genome.wustl.edu 36 3 153028374 153028374 + Silent SNP T T G novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 3 153028374 153028374 T G SNP AADAC NM_001086 human genbank 54_36p +1 reviewed silent c.924 p.A308 0.000 superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_3 superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_3,PatternScan_LIPASE_GDXG_SER - no_errors GHSR 2693 genome.wustl.edu 36 3 173648089 173648089 + Missense_Mutation SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 3 173648089 173648089 C T SNP GHSR NM_004122 human genbank 54_36p -1 reviewed missense c.809 p.R270H 0.043 HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LOC100128760 0 genome.wustl.edu 36 5 176625413 176625413 + RNA SNP G G A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 5 176625413 176625413 G A SNP LOC100128760 XR_038526 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene TTN 7273 genome.wustl.edu 36 2 179144309 179144309 + Missense_Mutation SNP T T C novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 2 179144309 179144309 T C SNP TTN NM_133378 human genbank 54_36p -1 reviewed missense c.67091 p.Q22364R 0.989 NULL superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Ypt/Rab-GAP domain of gyp1p,superfamily_beta-sandwich domain of Sec23/24,superfamily_vWA-like,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_RCC1_2 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CHRD 8646 genome.wustl.edu 36 3 185589421 185589421 + Missense_Mutation SNP C C A novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 3 185589421 185589421 C A SNP CHRD NM_003741 human genbank 54_36p +1 reviewed missense c.2756 p.S919Y 0.904 HMMPfam_VWC,HMMSmart_SM00214 HMMPfam_VWC,HMMSmart_SM00214,HMMPfam_CHRD,HMMSmart_SM00754,PatternScan_VWFC_1 - no_errors MAP3K13 9175 genome.wustl.edu 36 3 186648386 186648386 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 3 186648386 186648386 G T SNP MAP3K13 NM_004721 human genbank 54_36p +1 reviewed nonsense c.967 p.E323* 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST - no_errors LOC644214 644214 genome.wustl.edu 36 1 222111038 222111038 + RNA SNP T T C novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 1 222111038 222111038 T C SNP LOC644214 XR_017064 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene NLRP3 114548 genome.wustl.edu 36 1 245654249 245654249 + Missense_Mutation SNP C C T novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 1 245654249 245654249 C T SNP NLRP3 NM_001079821 human genbank 54_36p +1 reviewed missense c.881 p.P294L 0.001 HMMPfam_NACHT superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMSmart_LRR_RI,HMMPfam_LRR_1 - no_errors LOC100129261 0 genome.wustl.edu 36 19 17389023 17389032 + RNA DEL TTTTTTTTTT TTTTTTTTTT - novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 TTTTTTTTTT TTTTTTTTTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 19 17389023 17389032 TTTTTTTTTT - DEL LOC100129261 XR_039780 human genbank 54_36p -1 model rna NULL NULL 0.966:0.965:0.965:0.965:0.965:0.965:0.966:0.966:0.967:0.969 - - (deletion:rna[17388737,17389128]) pseudogene C20orf185 359710 genome.wustl.edu 36 20 31125059 31125070 + In_Frame_Del DEL CCGTGGCATCCT CCGTGGCATCCT - novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 CCGTGGCATCCT CCGTGGCATCCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 20 31125059 31125070 CCGTGGCATCCT - DEL C20orf185 NM_182658 human genbank 54_36p +1 provisional in_frame_del c.1418_1429 p.TVAS*473in_frame_delR 1.000:0.999:1.000:0.999:0.997:0.983:0.977:0.968:0.966:0.963:0.944:0.946 superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI2 PatternScan_LBP_BPI_CETP,superfamily_Bactericidal_perm-incr_a/b_dom,HMMSmart_BPI1,HMMPfam_LBP_BPI_CETP,HMMSmart_BPI2,HMMPfam_LBP_BPI_CETP_C (deletion:cds_exon[31125043,31125072]) no_errors FPGT 8790 genome.wustl.edu 36 1 74443849 74443854 + In_Frame_Del DEL GGAACT GGAACT - novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 GGAACT GGAACT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 1 74443849 74443854 GGAACT - DEL FPGT NM_003838 human genbank 54_36p +1 reviewed in_frame_del c.1530_1535 p.EL511in_frame_del 0.019:0.056:0.529:0.544:0.972:0.992 HMMPfam_Fucokinase HMMPfam_Fucokinase (deletion:cds_exon[74442663,74444104]) no_errors FPGT 8790 genome.wustl.edu 36 1 74443858 74443873 + Frame_Shift_Del DEL CTCTGGTAACAAGACA CTCTGGTAACAAGACA - novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 CTCTGGTAACAAGACA CTCTGGTAACAAGACA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 1 74443858 74443873 CTCTGGTAACAAGACA - DEL FPGT NM_003838 human genbank 54_36p +1 reviewed frame_shift_del c.1539_1554 p.S514fs 1.000:1.000:1.000:0.997:0.998:0.995:0.705:0.736:0.455:0.217:0.186:0.081:0.010:0.001:0.000:0.000 HMMPfam_Fucokinase HMMPfam_Fucokinase (deletion:cds_exon[74442663,74444104]) no_errors FRAS1 80144 genome.wustl.edu 36 4 79637127 79637128 + In_Frame_Ins INS - - ATG novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 4 79637127 79637128 - ATG INS FRAS1 ENST00000380674 human ensembl 54_36p +1 known in_frame_ins c.9106_9107 p.3038in_frame_insD 1.000:1.000 HMMPfam_Calx-beta,HMMSmart_SM00237 HMMSmart_SM00214,HMMSmart_SM00215,PatternScan_VWFC_1,HMMPfam_VWC,superfamily_Growth factor receptor domain,HMMSmart_SM00261,HMMSmart_SM00181,HMMSmart_SM00237,HMMPfam_Calx-beta - no_errors C9orf106 414318 genome.wustl.edu 36 9 131124252 131124252 + Frame_Shift_Del DEL C C - novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 9 131124252 131124252 C - DEL C9orf106 NM_001012715 human genbank 54_36p +1 validated frame_shift_del c.339 p.P114fs 0.001 NULL NULL (deletion:cds_exon[131123914,131124612]) no_errors FAM135B 51059 genome.wustl.edu 36 8 139276730 139276730 + Frame_Shift_Del DEL C C - novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 8 139276730 139276730 C - DEL FAM135B NM_015912 human genbank 54_36p -1 validated frame_shift_del c.826 p.A276fs 0.991 NULL superfamily_alpha/beta-Hydrolases,HMMPfam_DUF676 (deletion:cds_exon[139276683,139276732]) no_errors ENSG00000212309 0 genome.wustl.edu 36 2 202851130 202851131 + RNA INS - - AAT novel unknown TCGA-29-1770-01A-01W-0633-09 TCGA-29-1770-10A-01W-0634-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx b0cc31dd-6efe-421d-93c1-260cdb19ebcb 740b55fc-1887-4d89-b81a-f9b172e03bb1 2 202851130 202851131 - AAT INS ENSG00000212309 ENST00000391007 human ensembl 54_36p +1 novel rna NULL NULL 0.999:0.990 - - - no_errors