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 MT-ATP6 4508 genome.wustl.edu 36 MT 9000 9000 + Missense_Mutation SNP T C C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd MT 9000 9000 T C SNP MT-ATP6 ENST00000361899 human ensembl 54_36p +1 known missense c.473 p.V158A NULL HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A,PatternScan_ATPASE_A HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A,PatternScan_ATPASE_A - no_errors MUC5B 727897 genome.wustl.edu 36 11 1220371 1220371 + Silent SNP C G G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 11 1220371 1220371 C G SNP MUC5B NM_002458 human genbank 54_36p +1 validated silent c.5694 p.A1898 0.000 NULL HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00214,HMMSmart_SM00215,superfamily_PMP inhibitors,PatternScan_VWFC_1,HMMPfam_VWC,HMMSmart_SM00041,HMMPfam_Cys_knot,PatternScan_CTCK_1 - no_errors LPCAT1 79888 genome.wustl.edu 36 5 1542912 1542912 + Missense_Mutation SNP T T A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 5 1542912 1542912 T A SNP LPCAT1 NM_024830 human genbank 54_36p -1 validated missense c.555 p.K185N 0.991 superfamily_SSF69593,HMMPfam_Acyltransferase,HMMSmart_PlsC PatternScan_EF_HAND_1,superfamily_SSF69593,HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF47473,HMMSmart_EFh - no_errors TGM6 343641 genome.wustl.edu 36 20 2328266 2328266 + Silent SNP C C T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 20 2328266 2328266 C T SNP TGM6 NM_198994 human genbank 54_36p +1 validated silent c.732 p.G244 0.917 superfamily_Cysteine proteinases HMMPfam_Transglut_N,superfamily_E set domains,superfamily_Cysteine proteinases,HMMSmart_SM00460,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglutaminase two C-terminal domains,HMMPfam_Transglut_C - no_errors BTBD12 84464 genome.wustl.edu 36 16 3579413 3579413 + Silent SNP G C C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 16 3579413 3579413 G C SNP BTBD12 NM_032444 human genbank 54_36p -1 provisional silent c.4227 p.A1409 0.000 NULL superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225 - no_errors KCNA6 3742 genome.wustl.edu 36 12 4790388 4790388 + Missense_Mutation SNP A T T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 12 4790388 4790388 A T SNP KCNA6 NM_002235 human genbank 54_36p +1 reviewed missense c.920 p.Y307F 1.000 superfamily_SSF81324,HMMPfam_Ion_trans superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans - no_errors CNGA4 1262 genome.wustl.edu 36 11 6221948 6221948 + Silent SNP C T T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 11 6221948 6221948 C T SNP CNGA4 NM_001037329 human genbank 54_36p +1 validated silent c.1461 p.I487 0.995 NULL superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2 - no_errors ENSG00000186234 0 genome.wustl.edu 36 4 9307449 9307449 + Missense_Mutation SNP T T C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 4 9307449 9307449 T C SNP ENSG00000186234 ENST00000340703 human ensembl 54_36p +1 known missense c.187 p.Y63H 1.000 NULL HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases - no_start_codon MYH13 8735 genome.wustl.edu 36 17 10204007 10204007 + Missense_Mutation SNP T G G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 17 10204007 10204007 T G SNP MYH13 NM_003802 human genbank 54_36p -1 validated missense c.640 p.M214L 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,superfamily_Prefoldin,HMMPfam_Myosin_tail_1 - no_errors MYH1 4619 genome.wustl.edu 36 17 10346890 10346890 + Missense_Mutation SNP T T C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 17 10346890 10346890 T C SNP MYH1 NM_005963 human genbank 54_36p -1 reviewed missense c.3001 p.K1001E 1.000 NULL HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1 - no_errors TAS2R42 353164 genome.wustl.edu 36 12 11230644 11230644 + Missense_Mutation SNP A T T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 12 11230644 11230644 A T SNP TAS2R42 NM_181429 human genbank 54_36p -1 provisional missense c.167 p.I56N 0.002 HMMPfam_TAS2R,superfamily_SSF81321 HMMPfam_TAS2R,superfamily_SSF81321 - no_errors GCDH 2639 genome.wustl.edu 36 19 12868161 12868161 + Missense_Mutation SNP G G A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 19 12868161 12868161 G A SNP GCDH NM_000159 human genbank 54_36p +1 reviewed missense c.778 p.A260T 0.552 superfamily_Acyl-CoA dehydrogenase NM domain-like superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,HMMPfam_Acyl-CoA_dh_1,PatternScan_ACYL_COA_DH_2 - no_errors PDPN 10630 genome.wustl.edu 36 1 13783119 13783119 + Missense_Mutation SNP T T A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 13783119 13783119 T A SNP PDPN NM_006474 human genbank 54_36p +1 reviewed missense c.232 p.W78R 0.854 HMMPfam_Podoplanin HMMPfam_Podoplanin - no_errors FLRT3 23767 genome.wustl.edu 36 20 14255301 14255301 + Silent SNP A A G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 20 14255301 14255301 A G SNP FLRT3 NM_013281 human genbank 54_36p -1 reviewed silent c.852 p.S284 0.997 superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1 superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,HMMPfam_LRRCT,HMMSmart_FN3,HMMPfam_fn3 - no_errors GALNTL2 117248 genome.wustl.edu 36 3 16236474 16236474 + Silent SNP C C A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 3 16236474 16236474 C A SNP GALNTL2 NM_054110 human genbank 54_36p +1 validated silent c.1578 p.I526 0.001 superfamily_RicinB_like,HMMPfam_Ricin_B_lectin,HMMSmart_RICIN superfamily_SSF53448,HMMPfam_Glycos_transf_2,superfamily_RicinB_like,HMMPfam_Ricin_B_lectin,HMMSmart_RICIN - no_errors KIF16B 55614 genome.wustl.edu 36 20 16302921 16302921 + Missense_Mutation SNP C C A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 20 16302921 16302921 C A SNP KIF16B NM_024704 human genbank 54_36p -1 validated missense c.3331 p.V1111F 0.000 NULL HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,PatternScan_LECTIN_LEGUME_BETA,superfamily_SMAD/FHA domain,HMMPfam_FHA,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312 - no_errors LDHC 3948 genome.wustl.edu 36 11 18429140 18429140 + Silent SNP C C A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 11 18429140 18429140 C A SNP LDHC NM_002301 human genbank 54_36p +1 reviewed silent c.889 p.R297 0.017 superfamily_Lactate_DH/Glyco_hydro_4_C,HMMPfam_Ldh_1_C superfamily_NAD(P)-bd,HMMPfam_Ldh_1_N,superfamily_Lactate_DH/Glyco_hydro_4_C,HMMPfam_Ldh_1_C,PatternScan_L_LDH - no_errors OR4E2 26686 genome.wustl.edu 36 14 21203842 21203842 + Missense_Mutation SNP G G T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 14 21203842 21203842 G T SNP OR4E2 NM_001001912 human genbank 54_36p +1 validated missense c.706 p.A236S 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR4E2 26686 genome.wustl.edu 36 14 21203884 21203884 + Missense_Mutation SNP T T A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 14 21203884 21203884 T A SNP OR4E2 NM_001001912 human genbank 54_36p +1 validated missense c.748 p.F250I 0.873 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors KIAA0319 9856 genome.wustl.edu 36 6 24704145 24704145 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 6 24704145 24704145 C A SNP KIAA0319 NM_014809 human genbank 54_36p -1 validated nonsense c.736 p.E246* 0.007 NULL HMMSmart_SM00765,HMMSmart_SM00060,HMMSmart_SM00089,superfamily_PKD domain - no_errors ITPR2 3709 genome.wustl.edu 36 12 26665409 26665409 + Missense_Mutation SNP A C C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 12 26665409 26665409 A C SNP ITPR2 NM_002223 human genbank 54_36p -1 validated missense c.3376 p.S1126A 1.000 NULL HMMPfam_Ins145_P3_rec,superfamily_MIR domain (Pfam 02815),HMMSmart_SM00472,HMMPfam_MIR,superfamily_IP3 receptor type 1 binding core domain 2,HMMPfam_RYDR_ITPR,HMMPfam_RIH_assoc,HMMPfam_Ion_trans - no_errors CCDC34 91057 genome.wustl.edu 36 11 27319631 27319631 + Missense_Mutation SNP C C G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 11 27319631 27319631 C G SNP CCDC34 NM_030771 human genbank 54_36p -1 validated missense c.649 p.E217Q 0.998 NULL NULL - no_errors LOC387646 387646 genome.wustl.edu 36 10 27575113 27575113 + RNA SNP T T C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 10 27575113 27575113 T C SNP LOC387646 NR_003525 human genbank 54_36p -1 provisional rna NULL NULL 0.003 - - - pseudogene CHRNA7 1139 genome.wustl.edu 36 15 30110409 30110409 + Missense_Mutation SNP G G C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 15 30110409 30110409 G C SNP CHRNA7 NM_000746 human genbank 54_36p +1 reviewed missense c.72 p.E24D 1.000 superfamily_Neur_chan_LBD superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb - no_errors BAT2 7916 genome.wustl.edu 36 6 31707139 31707139 + Missense_Mutation SNP C C T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 6 31707139 31707139 C T SNP BAT2 NM_080686 human genbank 54_36p +1 reviewed missense c.2710 p.R904C 0.011 NULL HMMPfam_BAT2_N - no_errors EPC1 80314 genome.wustl.edu 36 10 32621975 32621975 + Missense_Mutation SNP T T G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 10 32621975 32621975 T G SNP EPC1 NM_025209 human genbank 54_36p -1 provisional missense c.613 p.N205H 1.000 NULL HMMPfam_EPL1,HMMPfam_E_Pc_C - no_errors HLA-DQB2 3120 genome.wustl.edu 36 6 32832219 32832219 + Missense_Mutation SNP G G A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 6 32832219 32832219 G A SNP HLA-DQB2 ENST00000374931 human ensembl 54_36p -1 known missense c.784 p.L262F 0.362 NULL superfamily_MHC_I/II-like_Ag-recog,HMMPfam_MHC_II_beta,superfamily_SSF48726,HMMPfam_C1-set,HMMSmart_IGc1,PatternScan_IG_MHC - no_errors HLA-DPA1 3113 genome.wustl.edu 36 6 33144844 33144844 + Silent SNP G G C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 6 33144844 33144844 G C SNP HLA-DPA1 NM_033554 human genbank 54_36p -1 reviewed silent c.558 p.P186 0.162 superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407 superfamily_MHC antigen-recognition domain,HMMPfam_MHC_II_alpha,superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC - no_errors MYH9 4627 genome.wustl.edu 36 22 35024985 35024985 + Missense_Mutation SNP G A A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 22 35024985 35024985 G A SNP MYH9 NM_002473 human genbank 54_36p -1 reviewed missense c.3026 p.T1009I 0.191 superfamily_Prefoldin HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin,HMMPfam_Myosin_tail_1,superfamily_Regulator of G-protein signaling RGS - no_errors UNC5D 137970 genome.wustl.edu 36 8 35703434 35703434 + Missense_Mutation SNP C C A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 8 35703434 35703434 C A SNP UNC5D NM_080872 human genbank 54_36p +1 validated missense c.1511 p.T504N 0.999 NULL superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,PatternScan_SERPIN,HMMPfam_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death - no_errors NIPBL 25836 genome.wustl.edu 36 5 37100714 37100714 + Missense_Mutation SNP G G A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 5 37100714 37100714 G A SNP NIPBL NM_133433 human genbank 54_36p +1 reviewed missense c.8378 p.R2793Q 1.000 NULL superfamily_ARM repeat - no_errors NUP155 9631 genome.wustl.edu 36 5 37365932 37365932 + Silent SNP T T C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 5 37365932 37365932 T C SNP NUP155 NM_153485 human genbank 54_36p -1 reviewed silent c.1689 p.R563 1.000 HMMPfam_Nucleoporin HMMPfam_Nucleoporin - no_errors LRRK2 120892 genome.wustl.edu 36 12 38958028 38958028 + Missense_Mutation SNP T T G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 12 38958028 38958028 T G SNP LRRK2 NM_198578 human genbank 54_36p +1 reviewed missense c.2013 p.F671L 0.949 NULL superfamily_ARM-type_fold,superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52540,HMMPfam_Miro,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_WD40_like,HMMSmart_WD40,PatternScan_RCC1_2 - no_errors EHD4 30844 genome.wustl.edu 36 15 40022566 40022566 + Missense_Mutation SNP T T G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 15 40022566 40022566 T G SNP EHD4 NM_139265 human genbank 54_36p -1 provisional missense c.502 p.I168L 0.997 superfamily_SSF52540,HMMPfam_Dynamin_N superfamily_SSF52540,HMMPfam_Dynamin_N,superfamily_SSF47473,HMMSmart_EH,PatternScan_EF_HAND_1 - no_errors TTBK2 146057 genome.wustl.edu 36 15 40881555 40881555 + Missense_Mutation SNP G G T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 15 40881555 40881555 G T SNP TTBK2 ENST00000263802 human ensembl 54_36p -1 known missense c.1104 p.N368K 1.000 HMMPfam_Filament HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMPfam_Filament,PatternScan_IF - no_errors SLC14A2 8170 genome.wustl.edu 36 18 41475296 41475296 + Silent SNP C C T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 18 41475296 41475296 C T SNP SLC14A2 NM_007163 human genbank 54_36p +1 validated silent c.1116 p.A372 0.971 HMMPfam_UT HMMPfam_UT,PatternScan_MULTICOPPER_OXIDASE1 - no_errors EPSTI1 94240 genome.wustl.edu 36 13 42367190 42367190 + Silent SNP G G A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 13 42367190 42367190 G A SNP EPSTI1 NM_001002264 human genbank 54_36p -1 validated silent c.903 p.L301 0.925 NULL NULL - no_errors ZNF383 163087 genome.wustl.edu 36 19 42418762 42418762 + Missense_Mutation SNP C C A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 19 42418762 42418762 C A SNP ZNF383 NM_152604 human genbank 54_36p +1 provisional missense c.178 p.Q60K 1.000 superfamily_Krueppel-associated_box,HMMSmart_KRAB superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors HSF2BP 11077 genome.wustl.edu 36 21 43874704 43874704 + Silent SNP C C T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 21 43874704 43874704 C T SNP HSF2BP NM_007031 human genbank 54_36p -1 reviewed silent c.501 p.S167 0.019 superfamily_ARM repeat superfamily_ARM repeat - no_errors RAMP3 10268 genome.wustl.edu 36 7 45183467 45183467 + Silent SNP A A T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 7 45183467 45183467 A T SNP RAMP3 NM_005856 human genbank 54_36p +1 reviewed silent c.93 p.T31 0.131 NULL HMMPfam_RAMP - no_errors ZNF673 55634 genome.wustl.edu 36 X 46217211 46217211 + Missense_Mutation SNP G C C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd X 46217211 46217211 G C SNP ZNF673 NM_017776 human genbank 54_36p +1 validated missense c.321 p.K107N 0.964 NULL superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349 - no_errors RP2 6102 genome.wustl.edu 36 X 46604459 46604459 + Silent SNP C T T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd X 46604459 46604459 C T SNP RP2 NM_006915 human genbank 54_36p +1 reviewed silent c.861 p.D287 0.994 superfamily_NDK HMMPfam_TBCC,HMMSmart_CARP,superfamily_NDK - no_errors MKNK1 8569 genome.wustl.edu 36 1 46813221 46813221 + Missense_Mutation SNP C C G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 46813221 46813221 C G SNP MKNK1 NM_003684 human genbank 54_36p -1 validated missense c.373 p.E125Q 1.000 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 SPPL2A 84888 genome.wustl.edu 36 15 48816148 48816148 + Missense_Mutation SNP G G A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 15 48816148 48816148 G A SNP SPPL2A NM_032802 human genbank 54_36p -1 reviewed missense c.815 p.P272L 1.000 HMMPfam_Peptidase_A22B,HMMSmart_SM00730 superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,HMMPfam_Peptidase_A22B,HMMSmart_SM00730 - no_errors NICN1 84276 genome.wustl.edu 36 3 49438722 49438722 + Silent SNP T T A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 3 49438722 49438722 T A SNP NICN1 NM_032316 human genbank 54_36p -1 reviewed silent c.276 p.G92 0.999 NULL NULL - no_errors PYGL 5836 genome.wustl.edu 36 14 50480719 50480719 + Silent SNP G G A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 14 50480719 50480719 G A SNP PYGL NM_002863 human genbank 54_36p -1 validated silent c.153 p.D51 1.000 superfamily_SSF53756 superfamily_SSF53756,HMMPfam_Phosphorylase,PatternScan_PHOSPHORYLASE - no_errors KRT85 3891 genome.wustl.edu 36 12 51043353 51043353 + Missense_Mutation SNP A A G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 12 51043353 51043353 A G SNP KRT85 NM_002283 human genbank 54_36p -1 reviewed missense c.895 p.Y299H 1.000 HMMPfam_Filament HMMPfam_Filament,PatternScan_IF - no_errors THSD1 55901 genome.wustl.edu 36 13 51850625 51850625 + Missense_Mutation SNP A A T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 13 51850625 51850625 A T SNP THSD1 NM_018676 human genbank 54_36p -1 reviewed missense c.1481 p.I494N 0.847 NULL superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1 - no_errors ITIH1 3697 genome.wustl.edu 36 3 52786734 52786734 + Silent SNP C C T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 3 52786734 52786734 C T SNP ITIH1 NM_002215 human genbank 54_36p +1 validated silent c.63 p.I21 0.002 NULL HMMSmart_SM00609,HMMPfam_VIT,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_ITI_HC_C - no_errors FST 10468 genome.wustl.edu 36 5 52814467 52814467 + Missense_Mutation SNP C C G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 5 52814467 52814467 C G SNP FST NM_013409 human genbank 54_36p +1 reviewed missense c.86 p.A29G 1.000 NULL HMMPfam_PRKCSH,HMMSmart_SM00274,HMMPfam_FOLN,superfamily_Kazal-type serine protease inhibitors,HMMSmart_SM00280,HMMPfam_Kazal_1 - no_errors NEDD4L 23327 genome.wustl.edu 36 18 54140672 54140672 + Silent SNP T T C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 18 54140672 54140672 T C SNP NEDD4L NM_015277 human genbank 54_36p +1 validated silent c.384 p.F128 1.000 superfamily_C2_CaLB superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT - no_errors MALT1 10892 genome.wustl.edu 36 18 54527617 54527617 + Missense_Mutation SNP A A G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 18 54527617 54527617 A G SNP MALT1 NM_006785 human genbank 54_36p +1 reviewed missense c.677 p.K226R 0.967 superfamily_Immunoglobulin superfamily_DEATH domain,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Caspase-like,HMMPfam_Peptidase_C14 - no_errors DKKL1 27120 genome.wustl.edu 36 19 54560681 54560681 + Missense_Mutation SNP G G T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 19 54560681 54560681 G T SNP DKKL1 NM_014419 human genbank 54_36p +1 reviewed missense c.287 p.G96V 0.982 NULL NULL - no_errors FAM62A 23344 genome.wustl.edu 36 12 54818273 54818273 + Missense_Mutation SNP T T A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 12 54818273 54818273 T A SNP FAM62A NM_015292 human genbank 54_36p +1 provisional missense c.2287 p.L763M 1.000 superfamily_C2 domain (Calcium/lipid-binding domain CaLB) superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors VRK3 51231 genome.wustl.edu 36 19 55202737 55202737 + Missense_Mutation SNP C C T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 19 55202737 55202737 C T SNP VRK3 NM_016440 human genbank 54_36p -1 reviewed missense c.448 p.E150K 0.095 NULL HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) - no_errors OR5W2 390148 genome.wustl.edu 36 11 55437755 55437755 + Missense_Mutation SNP T T A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 11 55437755 55437755 T A SNP OR5W2 NM_001001960 human genbank 54_36p -1 provisional missense c.880 p.N294Y 0.787 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LOC728115 728115 genome.wustl.edu 36 18 55834989 55834989 + RNA SNP A A T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 18 55834989 55834989 A T SNP LOC728115 XR_038858 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene SIGLECP3 284367 genome.wustl.edu 36 19 56362855 56362855 + Silent SNP C C T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 19 56362855 56362855 C T SNP SIGLECP3 ENST00000341811 human ensembl 54_36p +1 known silent c.396 p.D132 0.001 superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig - no_start_codon ZNF525 170958 genome.wustl.edu 36 19 58577249 58577249 + RNA SNP A A C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 19 58577249 58577249 A C SNP ZNF525 NR_003699 human genbank 54_36p +1 validated rna NULL NULL 0.000 - - - pseudogene VPS13C 54832 genome.wustl.edu 36 15 60002058 60002058 + Missense_Mutation SNP G G C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 15 60002058 60002058 G C SNP VPS13C NM_020821 human genbank 54_36p -1 validated missense c.6805 p.H2269D 0.001 NULL HMMPfam_DUF1162 - no_errors CCDC88B 283234 genome.wustl.edu 36 11 63864786 63864786 + Silent SNP G G T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 11 63864786 63864786 G T SNP CCDC88B NM_032251 human genbank 54_36p +1 validated silent c.192 p.R64 0.996 NULL NULL - no_errors SPTB 6710 genome.wustl.edu 36 14 64307502 64307502 + Silent SNP C C T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 14 64307502 64307502 C T SNP SPTB NM_001024858 human genbank 54_36p -1 validated silent c.5652 p.A1884 0.991 HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_errors ADAMTS9 56999 genome.wustl.edu 36 3 64594569 64594569 + Missense_Mutation SNP A A C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 3 64594569 64594569 A C SNP ADAMTS9 NM_182920 human genbank 54_36p -1 reviewed missense c.1883 p.V628G 0.995 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_GON" - no_errors EDA 1896 genome.wustl.edu 36 X 69170098 69170098 + Splice_Site SNP G A A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd X 69170098 69170098 G A SNP EDA NM_001005609 human genbank 54_36p +1 reviewed splice_site c.918+1 e7+1 1.000 - - - no_errors LLGL2 3993 genome.wustl.edu 36 17 71078711 71078711 + Missense_Mutation SNP C C G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 17 71078711 71078711 C G SNP LLGL2 NM_001031803 human genbank 54_36p +1 reviewed missense c.2111 p.S704W 0.999 NULL HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_LLGL,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors FAM135A 57579 genome.wustl.edu 36 6 71252645 71252645 + Missense_Mutation SNP G A A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 6 71252645 71252645 G A SNP FAM135A NM_020819 human genbank 54_36p +1 validated missense c.749 p.R250Q 0.991 NULL superfamily_SSF53474,HMMPfam_DUF676 - no_errors LOC441728 441728 genome.wustl.edu 36 15 73862466 73862466 + RNA SNP G G A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 15 73862466 73862466 G A SNP LOC441728 XR_017329 human genbank 54_36p +1 model rna NULL NULL 0.009 - - - no_errors KIAA0317 9870 genome.wustl.edu 36 14 74203965 74203965 + Missense_Mutation SNP C C T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 14 74203965 74203965 C T SNP KIAA0317 NM_001039479 human genbank 54_36p -1 validated missense c.2000 p.R667Q 1.000 superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT superfamily_E set domains,HMMPfam_Filamin,PatternScan_RCC1_2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors SV2C 22987 genome.wustl.edu 36 5 75463419 75463419 + Missense_Mutation SNP G G T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 5 75463419 75463419 G T SNP SV2C NM_014979 human genbank 54_36p +1 provisional missense c.88 p.V30L 1.000 superfamily_MFS_gen_substrate_transporter superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 - no_errors MAGEE1 57692 genome.wustl.edu 36 X 75565606 75565606 + Missense_Mutation SNP C A A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd X 75565606 75565606 C A SNP MAGEE1 NM_020932 human genbank 54_36p +1 validated missense c.879 p.S293R 0.008 NULL HMMPfam_MAGE - no_errors NAV3 89795 genome.wustl.edu 36 12 76968950 76968950 + Missense_Mutation SNP A A G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 12 76968950 76968950 A G SNP NAV3 NM_014903 human genbank 54_36p +1 validated missense c.2408 p.E803G 1.000 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382 - no_errors PHIP 55023 genome.wustl.edu 36 6 79722113 79722113 + Missense_Mutation SNP T A A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 6 79722113 79722113 T A SNP PHIP NM_017934 human genbank 54_36p -1 validated missense c.3788 p.Q1263L 1.000 superfamily_Bromodomain HMMSmart_SM00320,HMMPfam_WD40,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors SLC28A1 9154 genome.wustl.edu 36 15 83265282 83265282 + Missense_Mutation SNP C C A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 15 83265282 83265282 C A SNP SLC28A1 NM_004213 human genbank 54_36p +1 validated missense c.935 p.A312D 0.999 HMMPfam_Gate HMMPfam_Nucleos_tra2_N,HMMPfam_Gate,HMMPfam_Nucleos_tra2_C - no_errors AGBL1 123624 genome.wustl.edu 36 15 84614303 84614303 + Splice_Site SNP G G T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 15 84614303 84614303 G T SNP AGBL1 NM_152336 human genbank 54_36p +1 validated splice_site c.1849+1 e12+1 1.000 - - - no_errors CLCA1 1179 genome.wustl.edu 36 1 86727402 86727402 + Missense_Mutation SNP T T G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 86727402 86727402 T G SNP CLCA1 NM_001285 human genbank 54_36p +1 reviewed missense c.1318 p.S440A 0.917 superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA HMMPfam_CLCA_N,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_DUF1973,PatternScan_ATPASE_GAMMA - no_errors SH3GLB1 51100 genome.wustl.edu 36 1 86957798 86957798 + Missense_Mutation SNP G G C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 86957798 86957798 G C SNP SH3GLB1 NM_016009 human genbank 54_36p +1 validated missense c.235 p.V79L 1.000 HMMSmart_SM00721,HMMPfam_BAR HMMSmart_SM00721,HMMPfam_BAR,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_errors MFGE8 4240 genome.wustl.edu 36 15 87254074 87254074 + Missense_Mutation SNP T T C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 15 87254074 87254074 T C SNP MFGE8 NM_005928 human genbank 54_36p -1 validated missense c.158 p.Y53C 0.970 superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2 - no_errors SPG7 6687 genome.wustl.edu 36 16 88147752 88147752 + Silent SNP G A A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 16 88147752 88147752 G A SNP SPG7 NM_003119 human genbank 54_36p +1 reviewed silent c.1986 p.V662 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Peptidase_M41 HMMPfam_FtsH_ext,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,HMMPfam_Peptidase_M41 - no_errors ENSG00000211616 0 genome.wustl.edu 36 2 89348959 89348959 + Missense_Mutation SNP A G G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 2 89348959 89348959 A G SNP ENSG00000211616 ENST00000390261 human ensembl 54_36p -1 known missense c.265 p.S89P 0.999 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 - no_stop_codon:bad_bp_length_for_coding_region GBP6 163351 genome.wustl.edu 36 1 89618666 89618666 + Silent SNP A A T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 89618666 89618666 A T SNP GBP6 NM_198460 human genbank 54_36p +1 validated silent c.759 p.S253 0.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_GBP,HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain - no_errors FAM13A 10144 genome.wustl.edu 36 4 89890600 89890600 + Missense_Mutation SNP C C T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 4 89890600 89890600 C T SNP FAM13A NM_014883 human genbank 54_36p -1 validated missense c.1938 p.M646I 1.000 NULL superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP - no_errors GPR98 84059 genome.wustl.edu 36 5 89961007 89961007 + Silent SNP A A T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 5 89961007 89961007 A T SNP GPR98 NM_032119 human genbank 54_36p +1 reviewed silent c.1734 p.S578 0.102 NULL HMMSmart_SM00237,HMMPfam_Calx-beta,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EPTP,PatternScan_A_DEAMINASE,PatternScan_LIPOYL,HMMPfam_GPS - no_errors GPC5 2262 genome.wustl.edu 36 13 90899131 90899131 + Missense_Mutation SNP C C A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 13 90899131 90899131 C A SNP GPC5 NM_004466 human genbank 54_36p +1 reviewed missense c.279 p.S93R 0.992 HMMPfam_Glypican HMMPfam_Glypican,PatternScan_GLYPICAN - no_errors OGN 4969 genome.wustl.edu 36 9 94195286 94195286 + Silent SNP G G A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 9 94195286 94195286 G A SNP OGN NM_014057 human genbank 54_36p -1 reviewed silent c.330 p.D110 0.672 superfamily_L domain-like superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1 - no_errors TCL1A 8115 genome.wustl.edu 36 14 95248412 95248412 + Silent SNP G G T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 14 95248412 95248412 G T SNP TCL1A NM_001098725 human genbank 54_36p -1 validated silent c.195 p.T65 0.131 HMMPfam_TCL1_MTCP1,superfamily_TCL1_MTCP1 HMMPfam_TCL1_MTCP1,superfamily_TCL1_MTCP1 - no_errors LRRC28 123355 genome.wustl.edu 36 15 97720932 97720932 + Missense_Mutation SNP A A G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 15 97720932 97720932 A G SNP LRRC28 NM_144598 human genbank 54_36p +1 provisional missense c.970 p.T324A 1.000 NULL superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1 - no_errors TRRAP 8295 genome.wustl.edu 36 7 98405816 98405816 + Missense_Mutation SNP C C G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 7 98405816 98405816 C G SNP TRRAP NM_003496 human genbank 54_36p +1 validated missense c.7583 p.P2528R 0.984 superfamily_ARM repeat superfamily_ARM repeat,PatternScan_COPPER_BLUE,superfamily_Protein prenylyltransferase,HMMPfam_FAT,superfamily_TPR-like,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC - no_errors HIAT1 64645 genome.wustl.edu 36 1 100306665 100306665 + Missense_Mutation SNP A A T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 100306665 100306665 A T SNP HIAT1 NM_033055 human genbank 54_36p +1 validated missense c.754 p.T252S 1.000 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1,PatternScan_SUGAR_TRANSPORT_1 - no_errors DRP2 1821 genome.wustl.edu 36 X 100392689 100392689 + Missense_Mutation SNP A G G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd X 100392689 100392689 A G SNP DRP2 NM_001939 human genbank 54_36p +1 validated missense c.1826 p.K609R 1.000 HMMPfam_ZZ,HMMSmart_ZnF_ZZ HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_SSF47473,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1 - no_errors C12orf23 90488 genome.wustl.edu 36 12 105889252 105889252 + Missense_Mutation SNP G G T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 12 105889252 105889252 G T SNP C12orf23 NM_152261 human genbank 54_36p +1 validated missense c.304 p.V102L 1.000 NULL NULL - no_errors COL4A5 1287 genome.wustl.edu 36 X 107669671 107669671 + Missense_Mutation SNP A C C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd X 107669671 107669671 A C SNP COL4A5 NM_033380 human genbank 54_36p +1 reviewed missense c.121 p.S41R 0.987 NULL HMMPfam_Collagen,superfamily_C-type_lectin_fold,HMMPfam_C4,HMMSmart_C4 - no_errors RGAG1 57529 genome.wustl.edu 36 X 109583894 109583894 + Silent SNP G A A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd X 109583894 109583894 G A SNP RGAG1 NM_020769 human genbank 54_36p +1 provisional silent c.3393 p.A1131 0.001 NULL HMMPfam_Retrotrans_gag - no_errors PKHD1L1 93035 genome.wustl.edu 36 8 110526387 110526387 + Missense_Mutation SNP G G C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 8 110526387 110526387 G C SNP PKHD1L1 NM_177531 human genbank 54_36p +1 validated missense c.5113 p.V1705L 0.837 HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,HMMSmart_SM00758,superfamily_Anthrax protective antigen,HMMSmart_SM00710,superfamily_Cupredoxins,HMMPfam_G8,superfamily_Pectin lyase-like - no_errors TTC12 54970 genome.wustl.edu 36 11 112726089 112726089 + Silent SNP G T T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 11 112726089 112726089 G T SNP TTC12 NM_017868 human genbank 54_36p +1 validated silent c.1239 p.L413 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold,HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452,PatternScan_CPSASE_2 - no_errors PPP1R3A 5506 genome.wustl.edu 36 7 113346088 113346088 + Missense_Mutation SNP G G T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 7 113346088 113346088 G T SNP PPP1R3A NM_002711 human genbank 54_36p -1 reviewed missense c.200 p.A67D 1.000 NULL HMMPfam_CBM_21 - no_errors LRCH2 57631 genome.wustl.edu 36 X 114325237 114325237 + Missense_Mutation SNP A C C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd X 114325237 114325237 A C SNP LRCH2 NM_020871 human genbank 54_36p -1 validated missense c.614 p.M205R 1.000 superfamily_SSF52058 superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH - no_errors WDR31 114987 genome.wustl.edu 36 9 115134117 115134117 + Missense_Mutation SNP G T T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 9 115134117 115134117 G T SNP WDR31 NM_001012361 human genbank 54_36p -1 reviewed missense c.7 p.L3I 0.001 PatternScan_TONB_DEPENDENT_REC_1 PatternScan_TONB_DEPENDENT_REC_1,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors CTTNBP2 83992 genome.wustl.edu 36 7 117146853 117146853 + Missense_Mutation SNP C C A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 7 117146853 117146853 C A SNP CTTNBP2 NM_033427 human genbank 54_36p -1 reviewed missense c.4585 p.D1529Y 1.000 NULL HMMPfam_CortBP2,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors PXN 5829 genome.wustl.edu 36 12 119146556 119146556 + Silent SNP C C A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 12 119146556 119146556 C A SNP PXN NM_002859 human genbank 54_36p -1 validated silent c.21 p.L7 1.000 NULL HMMPfam_Paxillin,superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM - no_errors PTPRZ1 5803 genome.wustl.edu 36 7 121437979 121437979 + Missense_Mutation SNP C C A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 7 121437979 121437979 C A SNP PTPRZ1 NM_002851 human genbank 54_36p +1 reviewed missense c.1643 p.S548Y 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_errors CCDC15 80071 genome.wustl.edu 36 11 124367773 124367773 + Nonsense_Mutation SNP C T T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 11 124367773 124367773 C T SNP CCDC15 NM_025004 human genbank 54_36p +1 validated nonsense c.2119 p.Q707* 0.000 NULL NULL - no_errors FAT4 79633 genome.wustl.edu 36 4 126459998 126459998 + Silent SNP A A G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 4 126459998 126459998 A G SNP FAT4 NM_024582 human genbank 54_36p +1 validated silent c.2982 p.P994 0.998 HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_EGF - no_errors SLC12A2 6558 genome.wustl.edu 36 5 127531367 127531367 + Missense_Mutation SNP C C T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 5 127531367 127531367 C T SNP SLC12A2 NM_001046 human genbank 54_36p +1 validated missense c.2632 p.R878C 1.000 NULL HMMPfam_AA_permease_N,HMMPfam_AA_permease - no_errors PPAPDC3 84814 genome.wustl.edu 36 9 133173480 133173480 + Silent SNP C C A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 9 133173480 133173480 C A SNP PPAPDC3 NM_032728 human genbank 54_36p +1 validated silent c.801 p.L267 1.000 NULL superfamily_AcPase_VanPerase,HMMSmart_acidPPc,HMMPfam_PAP2 - no_errors RALGDS 5900 genome.wustl.edu 36 9 134968958 134968958 + Silent SNP C C G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 9 134968958 134968958 C G SNP RALGDS NM_006266 human genbank 54_36p -1 validated silent c.1755 p.L585 1.000 superfamily_Ras GEF,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF,superfamily_Ubiquitin-like,HMMPfam_RA,HMMSmart_SM00314 - no_errors ADCK2 90956 genome.wustl.edu 36 7 140019901 140019901 + Missense_Mutation SNP T T A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 7 140019901 140019901 T A SNP ADCK2 NM_052853 human genbank 54_36p +1 validated missense c.302 p.L101H 0.381 NULL HMMPfam_ABC1,superfamily_Protein kinase-like (PK-like) - no_errors PCDHGA4 56111 genome.wustl.edu 36 5 140716206 140716206 + Missense_Mutation SNP A A T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 5 140716206 140716206 A T SNP PCDHGA4 NM_018917 human genbank 54_36p +1 reviewed missense c.1255 p.N419Y 1.000 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors PCDHGB6 56100 genome.wustl.edu 36 5 140769367 140769367 + Missense_Mutation SNP G G T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 5 140769367 140769367 G T SNP PCDHGB6 NM_018926 human genbank 54_36p +1 reviewed missense c.1414 p.A472S 0.001 superfamily_Cadherin-like,HMMPfam_Cadherin superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors ARHGAP26 23092 genome.wustl.edu 36 5 142254013 142254013 + Silent SNP G G A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 5 142254013 142254013 G A SNP ARHGAP26 NM_015071 human genbank 54_36p +1 validated silent c.513 p.R171 1.000 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,PatternScan_IG_MHC - no_errors FAM131B 9715 genome.wustl.edu 36 7 142764171 142764171 + Missense_Mutation SNP A A T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 7 142764171 142764171 A T SNP FAM131B NM_001031690 human genbank 54_36p -1 validated missense c.593 p.L198Q 1.000 NULL NULL - no_errors FAM115A 9747 genome.wustl.edu 36 7 143204272 143204272 + Silent SNP G G T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 7 143204272 143204272 G T SNP FAM115A NM_014719 human genbank 54_36p -1 predicted silent c.363 p.S121 0.998 NULL NULL - no_errors LOC728377 0 genome.wustl.edu 36 7 143596327 143596327 + RNA SNP T A A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 7 143596327 143596327 T A SNP LOC728377 XR_041052 human genbank 54_36p -1 model rna NULL NULL 0.967 - - - no_errors CYC1 1537 genome.wustl.edu 36 8 145223602 145223602 + Missense_Mutation SNP C C G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 8 145223602 145223602 C G SNP CYC1 NM_001916 human genbank 54_36p +1 validated missense c.739 p.P247A 0.996 superfamily_Cytochrome c,HMMPfam_Cytochrom_C1 superfamily_Cytochrome c,HMMPfam_Cytochrom_C1,superfamily_Cytochrome c1 subunit of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase) transmembrane anchor - no_errors MBD5 55777 genome.wustl.edu 36 2 148976513 148976513 + Silent SNP G G A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 2 148976513 148976513 G A SNP MBD5 NM_018328 human genbank 54_36p +1 validated silent c.4302 p.L1434 1.000 superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP HMMSmart_SM00391,HMMPfam_MBD,superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP - no_errors RFX5 5993 genome.wustl.edu 36 1 149582024 149582024 + Silent SNP G G A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 149582024 149582024 G A SNP RFX5 NM_000449 human genbank 54_36p -1 reviewed silent c.1113 p.A371 0.171 NULL HMMPfam_RFX_DNA_binding,superfamily_SSF46785 - no_errors HTR5A 3361 genome.wustl.edu 36 7 154493717 154493717 + Missense_Mutation SNP C C A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 7 154493717 154493717 C A SNP HTR5A NM_024012 human genbank 54_36p +1 reviewed missense c.175 p.L59M 0.993 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 ETV3L 440695 genome.wustl.edu 36 1 155334285 155334285 + Silent SNP G G A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 155334285 155334285 G A SNP ETV3L NM_001004341 human genbank 54_36p -1 provisional silent c.606 p.Y202 0.109 NULL superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2 - no_errors NPY5R 4889 genome.wustl.edu 36 4 164491219 164491219 + Missense_Mutation SNP A A G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 4 164491219 164491219 A G SNP NPY5R NM_006174 human genbank 54_36p +1 provisional missense c.344 p.H115R 0.923 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors TNFSF18 8995 genome.wustl.edu 36 1 171277378 171277378 + Missense_Mutation SNP A A C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 171277378 171277378 A C SNP TNFSF18 NM_005092 human genbank 54_36p -1 reviewed missense c.352 p.L118V 0.403 superfamily_TNF_like,HMMPfam_TNF superfamily_TNF_like,HMMPfam_TNF - no_errors TTN 7273 genome.wustl.edu 36 2 179105662 179105662 + Missense_Mutation SNP A A T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 2 179105662 179105662 A T SNP TTN NM_133378 human genbank 54_36p -1 reviewed missense c.96221 p.L32074Q 0.903 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 KIAA1614 57710 genome.wustl.edu 36 1 179152150 179152150 + Silent SNP G G T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 179152150 179152150 G T SNP KIAA1614 NM_020950 human genbank 54_36p +1 validated silent c.288 p.V96 0.000 NULL NULL - no_errors TTN 7273 genome.wustl.edu 36 2 179363073 179363073 + Silent SNP A A G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 2 179363073 179363073 A G SNP TTN NM_133379 human genbank 54_36p -1 reviewed silent c.1815 p.T605 0.986 HMMPfam_Titin_Z superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS - no_errors SMG7 9887 genome.wustl.edu 36 1 181772951 181772951 + Silent SNP A A G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 181772951 181772951 A G SNP SMG7 NM_173156 human genbank 54_36p +1 validated silent c.1212 p.E404 0.998 NULL HMMPfam_EST1,superfamily_TPR-like - no_errors TUBB4Q 56604 genome.wustl.edu 36 4 191141376 191141376 + Missense_Mutation SNP A A G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 4 191141376 191141376 A G SNP TUBB4Q NM_020040 human genbank 54_36p -1 validated missense c.601 p.C201R 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_start_codon MYO1B 4430 genome.wustl.edu 36 2 191975672 191975672 + Missense_Mutation SNP T T A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 2 191975672 191975672 T A SNP MYO1B ENST00000304164 human ensembl 54_36p +1 known missense c.2539 p.Y847N 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00015 HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_Myosin_TH1 - no_errors CFH 3075 genome.wustl.edu 36 1 194913268 194913268 + Missense_Mutation SNP A A T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 194913268 194913268 A T SNP CFH NM_000186 human genbank 54_36p +1 reviewed missense c.467 p.K156I 0.000 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors SATB2 23314 genome.wustl.edu 36 2 199845260 199845260 + Silent SNP G G A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 2 199845260 199845260 G A SNP SATB2 NM_015265 human genbank 54_36p -1 validated silent c.2121 p.S707 0.004 NULL HMMPfam_CUT,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox - no_errors LOC729191 729191 genome.wustl.edu 36 2 201984562 201984562 + RNA SNP C C A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 2 201984562 201984562 C A SNP LOC729191 XR_015913 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene STK16 8576 genome.wustl.edu 36 2 219821240 219821240 + Missense_Mutation SNP C C G novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 2 219821240 219821240 C G SNP STK16 NM_001008910 human genbank 54_36p +1 validated missense c.739 p.L247V 1.000 superfamily_Kinase_like,HMMPfam_Pkinase PatternScan_PROTEIN_KINASE_ATP,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST - no_errors RYR2 6262 genome.wustl.edu 36 1 235847326 235847326 + Missense_Mutation SNP A A T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 235847326 235847326 A T SNP RYR2 NM_001035 human genbank 54_36p +1 reviewed missense c.5833 p.N1945Y 1.000 NULL HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans - no_errors PLD5 200150 genome.wustl.edu 36 1 240320014 240320014 + Missense_Mutation SNP T T C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 240320014 240320014 T C SNP PLD5 NM_152666 human genbank 54_36p -1 provisional missense c.1100 p.N367S 1.000 superfamily_SSF56024,HMMPfam_PLDc,HMMSmart_PLDc superfamily_SSF56024,HMMPfam_PLDc,HMMSmart_PLDc,HMMPfam_PLD_envelope - no_errors PPP1R7 5510 genome.wustl.edu 36 2 241751429 241751429 + Silent SNP C C T novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 2 241751429 241751429 C T SNP PPP1R7 NM_002712 human genbank 54_36p +1 provisional silent c.654 p.N218 1.000 superfamily_L domain-like,HMMSmart_SM00369,HMMSmart_SM00365,HMMPfam_LRR_1 superfamily_L domain-like,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00446 - no_errors C1orf71 163882 genome.wustl.edu 36 1 244851488 244851488 + Missense_Mutation SNP T T C novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 1 244851488 244851488 T C SNP C1orf71 NM_152609 human genbank 54_36p +1 validated missense c.514 p.S172P 0.451 NULL NULL - no_errors PRKAR1B 5575 genome.wustl.edu 36 7 686854 686890 + In_Frame_Del DEL TGACTTTTGCCGCGCCAAAATCTGCCTGTTTTCTTCC TGACTTTTGCCGCGCCAAAATCTGCCTGTTTTCTTCC - novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 TGACTTTTGCCGCGCCAAAATCTGCCTGTTTTCTTCC TGACTTTTGCCGCGCCAAAATCTGCCTGTTTTCTTCC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 7 686854 686890 TGACTTTTGCCGCGCCAAAATCTGCCTGTTTTCTTCC - DEL PRKAR1B NM_002735 human genbank 54_36p -1 provisional in_frame_del c.213_178 p.EENRQILARQKS60in_frame_del 0.623:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.963:0.953:0.953:0.852:0.985:0.989:0.987:0.827:0.265:0.210:0.945:1.000:1.000:1.000:1.000:0.995:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 HMMPfam_RIIa,HMMSmart_RIIa HMMPfam_RIIa,HMMSmart_RIIa,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2 (deletion:cds_exon[686719,686889], intron[686890,717491]) no_errors TP53 7157 genome.wustl.edu 36 17 7519000 7519000 + Frame_Shift_Del DEL G G - novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 17 7519000 7519000 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.574 p.Q192fs 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 (deletion:cds_exon[7518902,7519014]) no_errors MPRIP 23164 genome.wustl.edu 36 17 16980287 16980289 + In_Frame_Del DEL CAG CAG - novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 CAG CAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 17 16980287 16980289 CAG - DEL MPRIP NM_015134 human genbank 54_36p +1 validated in_frame_del c.534_536 p.S182in_frame_del 0.997:0.998:0.998 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH (deletion:cds_exon[16980258,16980489]) no_errors LOC646517 646517 genome.wustl.edu 36 6 51383455 51383496 + RNA DEL GTCCTTTCCGGGGAGCCTGGTGCGAGCTCCGCGGGCGCCGGA GTCCTTTCCGGGGAGCCTGGTGCGAGCTCCGCGGGCGCCGGA - novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 GTCCTTTCCGGGGAGCCTGGTGCGAGCTCCGCGGGCGCCGGA GTCCTTTCCGGGGAGCCTGGTGCGAGCTCCGCGGGCGCCGGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 6 51383455 51383496 GTCCTTTCCGGGGAGCCTGGTGCGAGCTCCGCGGGCGCCGGA - DEL LOC646517 XR_017669 human genbank 54_36p -1 model rna NULL NULL 0.000:0.000:0.001:0.004:0.003:0.002:0.001:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.002:0.002:0.003:0.003:0.001:0.001:0.001:0.002:0.002:0.005:0.005:0.005:0.006:0.005:0.003:0.001:0.001:0.000:0.001:0.001:0.003:0.004:0.003:0.006:0.007:0.007 - - (deletion:rna[51382842,51383471], flank[51383472,51433471]) pseudogene NPIPL2 0 genome.wustl.edu 36 16 72982901 72982903 + In_Frame_Del DEL CAA CAA - novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 CAA CAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 16 72982901 72982903 CAA - DEL NPIPL2 ENST00000355290 human ensembl 54_36p +1 known in_frame_del c.571_573 p.Q192in_frame_del 0.000:0.000:0.000 HMMPfam_NPIP HMMPfam_NPIP (deletion:cds_exon[72982790,72983479]) no_errors IFIT1L 439996 genome.wustl.edu 36 10 91133804 91133828 + Frame_Shift_Del DEL TATGTCTTTCAATATGCAGCCAAGT TATGTCTTTCAATATGCAGCCAAGT - novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 TATGTCTTTCAATATGCAGCCAAGT TATGTCTTTCAATATGCAGCCAAGT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 10 91133804 91133828 TATGTCTTTCAATATGCAGCCAAGT - DEL IFIT1L NM_001010987 human genbank 54_36p +1 provisional frame_shift_del c.754_778 p.Y252fs 0.051:0.708:0.797:0.804:0.946:0.975:0.970:0.951:0.941:0.935:0.956:0.967:0.952:0.995:1.000:0.998:1.000:0.998:0.997:1.000:0.996:0.996:1.000:0.997:0.995 superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028 HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like (deletion:cds_exon[91133056,91134475]) no_errors FXR1 8087 genome.wustl.edu 36 3 182168562 182168563 + Frame_Shift_Ins INS - - A novel unknown TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3d4c15e7-3706-41ec-9443-38d89c9646aa 6f5d55e5-eb09-4296-a789-b326d3d50fdd 3 182168562 182168563 - A INS FXR1 NM_005087 human genbank 54_36p +1 reviewed frame_shift_ins c.1228_1229 p.T411fs 1.000:1.000 NULL HMMPfam_Agenet,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1 - no_errors