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 SLC22A23 63027 genome.wustl.edu 36 6 3232324 3232324 + Silent SNP C C G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 6 3232324 3232324 C G SNP SLC22A23 NM_021945 human genbank 54_36p -1 validated silent c.471 p.S157 1.000 superfamily_MFS_gen_substrate_transporter superfamily_MFS_gen_substrate_transporter - no_errors OR1E1 8387 genome.wustl.edu 36 17 3248408 3248408 + Missense_Mutation SNP C C T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 17 3248408 3248408 C T SNP OR1E1 NM_003553 human genbank 54_36p -1 validated missense c.47 p.G16D 0.912 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ALOX15 246 genome.wustl.edu 36 17 4488676 4488676 + Missense_Mutation SNP C C A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 17 4488676 4488676 C A SNP ALOX15 NM_001140 human genbank 54_36p -1 validated missense c.595 p.D199Y 0.134 superfamily_Lipoxygenase,HMMPfam_Lipoxygenase HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase,superfamily_Lipoxygenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_1,PatternScan_LIPOXYGENASE_2 - no_errors MINK1 50488 genome.wustl.edu 36 17 4740629 4740629 + Missense_Mutation SNP C C T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 17 4740629 4740629 C T SNP MINK1 NM_153827 human genbank 54_36p +1 reviewed missense c.3734 p.A1245V 1.000 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CYTH3 9265 genome.wustl.edu 36 7 6179864 6179864 + Missense_Mutation SNP G G T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 7 6179864 6179864 G T SNP CYTH3 NM_004227 human genbank 54_36p -1 reviewed missense c.394 p.Q132K 1.000 superfamily_Sec7 domain,HMMPfam_Sec7,HMMSmart_SM00222 superfamily_Sec7 domain,HMMPfam_Sec7,HMMSmart_SM00222,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors IL33 90865 genome.wustl.edu 36 9 6243593 6243593 + Missense_Mutation SNP A A T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 9 6243593 6243593 A T SNP IL33 NM_033439 human genbank 54_36p +1 validated missense c.511 p.N171Y 0.036 NULL NULL - no_errors uc001mec.1 0 genome.wustl.edu 36 11 6549554 6549554 + Missense_Mutation SNP C T T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 11 6549554 6549554 C T SNP uc001mec.1 ENST00000354346 human ensembl 54_36p +1 known missense c.3095 p.S1032F 0.292 HMMPfam_Dynein_heavy HMMPfam_Dynein_heavy - no_start_codon C3AR1 719 genome.wustl.edu 36 12 8103922 8103922 + Missense_Mutation SNP G G T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 12 8103922 8103922 G T SNP C3AR1 NM_004054 human genbank 54_36p -1 validated missense c.127 p.L43M 0.567 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 GRIN2A 2903 genome.wustl.edu 36 16 9765927 9765927 + Missense_Mutation SNP T G G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 16 9765927 9765927 T G SNP GRIN2A NM_000833 human genbank 54_36p -1 reviewed missense c.2975 p.N992T 1.000 HMMPfam_NMDAR2_C superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like II,HMMSmart_SM00079,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C - no_errors LOC100132755 0 genome.wustl.edu 36 Y 10647825 10647825 + Missense_Mutation SNP T T C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 Y 10647825 10647825 T C SNP LOC100132755 XM_001713806 human genbank 54_36p +1 model missense c.20 p.I7T 1.000 NULL NULL - no_errors EIF4G2 1982 genome.wustl.edu 36 11 10781230 10781230 + Missense_Mutation SNP G G T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 11 10781230 10781230 G T SNP EIF4G2 NM_001418 human genbank 54_36p -1 reviewed missense c.919 p.H307N 1.000 superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543 superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543,HMMPfam_MA3,HMMSmart_SM00544,HMMSmart_SM00515,HMMPfam_W2 - no_start_codon TAS2R7 50837 genome.wustl.edu 36 12 10845947 10845947 + Silent SNP T T G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 12 10845947 10845947 T G SNP TAS2R7 NM_023919 human genbank 54_36p -1 reviewed silent c.490 p.R164 0.000 HMMPfam_TAS2R,superfamily_SSF81321 HMMPfam_TAS2R,superfamily_SSF81321 - no_errors DOCK6 57572 genome.wustl.edu 36 19 11173613 11173613 + Silent SNP G G A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 19 11173613 11173613 G A SNP DOCK6 NM_020812 human genbank 54_36p -1 validated silent c.5640 p.H1880 0.999 HMMPfam_Ded_cyto HMMPfam_Ded_cyto - no_errors GREB1 9687 genome.wustl.edu 36 2 11670157 11670157 + Missense_Mutation SNP G A A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 2 11670157 11670157 G A SNP GREB1 NM_014668 human genbank 54_36p +1 reviewed missense c.3092 p.G1031E 1.000 NULL NULL - no_errors CLCN6 1185 genome.wustl.edu 36 1 11811232 11811232 + Missense_Mutation SNP G A A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 1 11811232 11811232 G A SNP CLCN6 NM_001286 human genbank 54_36p +1 reviewed missense c.1085 p.R362H 1.000 superfamily_Clc chloride channel,HMMPfam_Voltage_CLC superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS,HMMSmart_SM00116 - no_errors CEP192 55125 genome.wustl.edu 36 18 13114739 13114739 + Silent SNP A A G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 18 13114739 13114739 A G SNP CEP192 NM_032142 human genbank 54_36p +1 validated silent c.5796 p.R1932 0.991 NULL NULL - no_errors DNAH5 1767 genome.wustl.edu 36 5 13912658 13912658 + Nonsense_Mutation SNP G G C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 5 13912658 13912658 G C SNP DNAH5 NM_001369 human genbank 54_36p -1 validated nonsense c.4853 p.S1618* 0.999 HMMPfam_DHC_N2 HMMPfam_DHC_N1,superfamily_Spectrin,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors COLQ 8292 genome.wustl.edu 36 3 15472420 15472420 + Silent SNP G G A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 3 15472420 15472420 G A SNP COLQ NM_005677 human genbank 54_36p -1 reviewed silent c.1185 p.D395 0.779 NULL HMMPfam_Collagen - no_errors OR10H4 126541 genome.wustl.edu 36 19 15921230 15921230 + Missense_Mutation SNP G G A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 19 15921230 15921230 G A SNP OR10H4 NM_001004465 human genbank 54_36p +1 validated missense c.413 p.S138N 0.430 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors CECR2 27443 genome.wustl.edu 36 22 16396828 16396828 + Missense_Mutation SNP C C T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 22 16396828 16396828 C T SNP CECR2 ENST00000400585 human ensembl 54_36p +1 known missense c.1079 p.A360V 1.000 NULL superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors LOC100129113 0 genome.wustl.edu 36 22 16823787 16823787 + Missense_Mutation SNP G T T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 22 16823787 16823787 G T SNP LOC100129113 XM_001726354 human genbank 54_36p -1 model missense c.9 p.F3L 0.040 NULL NULL - no_errors ESPNP 0 genome.wustl.edu 36 1 16903192 16903192 + Missense_Mutation SNP G A A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 1 16903192 16903192 G A SNP ESPNP ENST00000270691 human ensembl 54_36p -1 known missense c.731 p.S244F 0.988 superfamily_Ankyrin repeat superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_WH2,HMMSmart_SM00246 - no_start_codon ADFP 123 genome.wustl.edu 36 9 19106530 19106530 + Missense_Mutation SNP T T C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 9 19106530 19106530 T C SNP ADFP NM_001122 human genbank 54_36p -1 reviewed missense c.1030 p.K344E 0.223 HMMPfam_Perilipin,superfamily_Mannose-6-phosphate receptor binding protein 1 (Tip47) C-terminal domain HMMPfam_Perilipin,superfamily_Mannose-6-phosphate receptor binding protein 1 (Tip47) C-terminal domain - no_errors PLEKHA5 54477 genome.wustl.edu 36 12 19380817 19380817 + Missense_Mutation SNP G G T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 12 19380817 19380817 G T SNP PLEKHA5 NM_019012 human genbank 54_36p +1 validated missense c.2241 p.Q747H 1.000 NULL superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors SLIT2 9353 genome.wustl.edu 36 4 20200402 20200402 + Missense_Mutation SNP G G C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 4 20200402 20200402 G C SNP SLIT2 NM_004787 human genbank 54_36p +1 provisional missense c.3126 p.Q1042H 0.996 HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF superfamily_L domain-like,HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,HMMSmart_SM00365,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMSmart_SM00274,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00041,PatternScan_CTCK_1 - no_errors C20orf74 57186 genome.wustl.edu 36 20 20501599 20501599 + Missense_Mutation SNP C C G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 20 20501599 20501599 C G SNP C20orf74 NM_020343 human genbank 54_36p -1 validated missense c.2821 p.D941H 1.000 NULL superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP - no_errors CIDEB 27141 genome.wustl.edu 36 14 23845501 23845501 + Silent SNP G G A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 14 23845501 23845501 G A SNP CIDEB NM_014430 human genbank 54_36p -1 validated silent c.255 p.D85 0.995 superfamily_CAD PB1 domains,HMMPfam_CIDE-N,HMMSmart_SM00266 superfamily_CAD PB1 domains,HMMPfam_CIDE-N,HMMSmart_SM00266 - no_errors SLC6A4 6532 genome.wustl.edu 36 17 25560368 25560368 + Missense_Mutation SNP T C C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 17 25560368 25560368 T C SNP SLC6A4 NM_001045 human genbank 54_36p -1 reviewed missense c.1468 p.K490E 1.000 HMMPfam_SNF HMMPfam_5HT_transporter,HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2 - no_errors SLC6A4 6532 genome.wustl.edu 36 17 25569983 25569983 + Nonsense_Mutation SNP C A A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 17 25569983 25569983 C A SNP SLC6A4 NM_001045 human genbank 54_36p -1 reviewed nonsense c.436 p.G146* 1.000 HMMPfam_SNF HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2,HMMPfam_5HT_transporter - no_errors SCAND3 114821 genome.wustl.edu 36 6 28662140 28662140 + Missense_Mutation SNP C C T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 6 28662140 28662140 C T SNP SCAND3 NM_052923 human genbank 54_36p -1 provisional missense c.334 p.V112M 1.000 HMMPfam_SCAN,HMMSmart_SCAN HMMPfam_SCAN,HMMSmart_SCAN,superfamily_RNaseH_fold,HMMPfam_rve,HMMPfam_hATC - no_errors CCDC157 0 genome.wustl.edu 36 22 29096773 29096773 + Silent SNP C G G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 22 29096773 29096773 C G SNP CCDC157 NM_001017437 human genbank 54_36p +1 validated silent c.726 p.L242 0.433 NULL NULL - no_errors ZNF24 7572 genome.wustl.edu 36 18 31174345 31174345 + Missense_Mutation SNP G G C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 18 31174345 31174345 G C SNP ZNF24 NM_006965 human genbank 54_36p -1 validated missense c.268 p.Q90E 0.996 HMMPfam_SCAN,HMMSmart_SCAN HMMPfam_SCAN,HMMSmart_SCAN,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors MEMO1 51072 genome.wustl.edu 36 2 31996595 31996595 + Missense_Mutation SNP C C G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 2 31996595 31996595 C G SNP MEMO1 NM_015955 human genbank 54_36p -1 validated missense c.341 p.W114S 1.000 HMMPfam_Memo HMMPfam_Memo - no_errors TAF1L 138474 genome.wustl.edu 36 9 32622136 32622136 + Missense_Mutation SNP G G C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 9 32622136 32622136 G C SNP TAF1L NM_153809 human genbank 54_36p -1 provisional missense c.3442 p.L1148V 1.000 NULL HMMPfam_TBP-binding,superfamily_TAF_II_230,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors NRP1 8829 genome.wustl.edu 36 10 33599611 33599611 + Missense_Mutation SNP C C A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 10 33599611 33599611 C A SNP NRP1 NM_003873 human genbank 54_36p -1 validated missense c.428 p.R143I 1.000 NULL superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1 - no_errors RBM12 10137 genome.wustl.edu 36 20 33706622 33706622 + Missense_Mutation SNP C C A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 20 33706622 33706622 C A SNP RBM12 NM_006047 human genbank 54_36p -1 reviewed missense c.37 p.V13L 1.000 superfamily_RNA-binding domain RBD superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors RXFP3 51289 genome.wustl.edu 36 5 33973795 33973795 + Missense_Mutation SNP A C C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 5 33973795 33973795 A C SNP RXFP3 NM_016568 human genbank 54_36p +1 provisional missense c.1193 p.K398T 1.000 superfamily_SSF81321 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors CCL21 6366 genome.wustl.edu 36 9 34699534 34699534 + Missense_Mutation SNP T T A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 9 34699534 34699534 T A SNP CCL21 NM_002989 human genbank 54_36p -1 reviewed missense c.334 p.T112S 0.000 NULL superfamily_Interleukin 8-like chemokines,HMMPfam_IL8,HMMSmart_SM00199 - no_errors PVALB 5816 genome.wustl.edu 36 22 35539669 35539669 + Missense_Mutation SNP C A A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 22 35539669 35539669 C A SNP PVALB NM_002854 human genbank 54_36p -1 reviewed missense c.271 p.D91Y 1.000 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors TRIOBP 11078 genome.wustl.edu 36 22 36485448 36485448 + Missense_Mutation SNP A A C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 22 36485448 36485448 A C SNP TRIOBP NM_138632 human genbank 54_36p +1 reviewed missense c.1264 p.T422P 0.068 NULL HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 - no_errors ENSG00000212148 0 genome.wustl.edu 36 10 36767657 36767657 + RNA SNP A A T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 10 36767657 36767657 A T SNP ENSG00000212148 ENST00000390846 human ensembl 54_36p +1 novel rna NULL NULL 0.973 - - - no_errors KCNU1 0 genome.wustl.edu 36 8 36887681 36887681 + Missense_Mutation SNP C A A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 8 36887681 36887681 C A SNP KCNU1 NM_001031836 human genbank 54_36p +1 validated missense c.2407 p.P803T 0.012 NULL superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,HMMPfam_BK_channel_a - no_errors CDC2L5 8621 genome.wustl.edu 36 7 40068972 40068972 + Missense_Mutation SNP A A G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 7 40068972 40068972 A G SNP CDC2L5 NM_003718 human genbank 54_36p +1 reviewed missense c.2623 p.I875V 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 ZNF295 49854 genome.wustl.edu 36 21 42284589 42284589 + Silent SNP T T A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 21 42284589 42284589 T A SNP ZNF295 NM_001098402 human genbank 54_36p -1 validated silent c.2685 p.T895 0.000 NULL superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZNF22 7570 genome.wustl.edu 36 10 44819334 44819334 + Missense_Mutation SNP A A C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 10 44819334 44819334 A C SNP ZNF22 NM_006963 human genbank 54_36p +1 validated missense c.512 p.E171A 0.994 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZNF182 7569 genome.wustl.edu 36 X 47727327 47727327 + Silent SNP C C T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 X 47727327 47727327 C T SNP ZNF182 NM_006962 human genbank 54_36p -1 validated silent c.255 p.P85 0.001 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 ABCA13 154664 genome.wustl.edu 36 7 48283086 48283086 + Missense_Mutation SNP G C C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 7 48283086 48283086 G C SNP ABCA13 NM_152701 human genbank 54_36p +1 reviewed missense c.3114 p.K1038N 0.000 NULL PatternScan_SERPIN - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MYO5A 4644 genome.wustl.edu 36 15 50449795 50449795 + Missense_Mutation SNP C C T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 15 50449795 50449795 C T SNP MYO5A NM_000259 human genbank 54_36p -1 reviewed missense c.2929 p.E977K 1.000 NULL superfamily_Myosin S1 fragment N-terminal domain,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMPfam_DIL - no_errors KRT7 3855 genome.wustl.edu 36 12 50925559 50925559 + Missense_Mutation SNP C C G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 12 50925559 50925559 C G SNP KRT7 NM_005556 human genbank 54_36p +1 reviewed missense c.1081 p.L361V 0.997 HMMPfam_Filament HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF - no_errors TXNDC12 51060 genome.wustl.edu 36 1 52266874 52266874 + Missense_Mutation SNP C C G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 1 52266874 52266874 C G SNP TXNDC12 NM_015913 human genbank 54_36p -1 provisional missense c.175 p.V59L 1.000 superfamily_Thioredoxin-like,PatternScan_THIOREDOXIN_1 superfamily_Thioredoxin-like,PatternScan_THIOREDOXIN_1 - no_errors BTF3L4 91408 genome.wustl.edu 36 1 52324974 52324974 + Missense_Mutation SNP C C A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 1 52324974 52324974 C A SNP BTF3L4 NM_152265 human genbank 54_36p +1 validated missense c.433 p.L145I 1.000 NULL HMMPfam_NAC - no_errors CALCOCO1 57658 genome.wustl.edu 36 12 52403700 52403700 + Nonsense_Mutation SNP C C A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 12 52403700 52403700 C A SNP CALCOCO1 NM_020898 human genbank 54_36p -1 validated nonsense c.394 p.E132* 1.000 HMMPfam_CALCOCO1 HMMPfam_CALCOCO1 - no_errors PCDH15 65217 genome.wustl.edu 36 10 55241364 55241364 + Silent SNP T T C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 10 55241364 55241364 T C SNP PCDH15 ENST00000395438 human ensembl 54_36p -1 known silent c.4395 p.E1465 1.000 NULL HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin - no_errors SLC12A3 6559 genome.wustl.edu 36 16 55477785 55477785 + Missense_Mutation SNP G A A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 16 55477785 55477785 G A SNP SLC12A3 NM_000339 human genbank 54_36p +1 reviewed missense c.1934 p.C645Y 1.000 HMMPfam_AA_permease HMMPfam_AA_permease_N,HMMPfam_AA_permease - no_errors KDR 3791 genome.wustl.edu 36 4 55649872 55649872 + Missense_Mutation SNP G G A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 4 55649872 55649872 G A SNP KDR NM_002253 human genbank 54_36p -1 validated missense c.3430 p.H1144Y 1.000 superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc superfamily_SSF48726,HMMSmart_IG,HMMPfam_V-set,HMMPfam_I-set,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 LOC400652 400652 genome.wustl.edu 36 18 55968079 55968079 + RNA SNP C G G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 18 55968079 55968079 C G SNP LOC400652 XR_038859 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene DPRX 503834 genome.wustl.edu 36 19 58827192 58827192 + Missense_Mutation SNP T G G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 19 58827192 58827192 T G SNP DPRX NM_001012728 human genbank 54_36p +1 validated missense c.20 p.L7R 0.007 superfamily_Homeodomain_like superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors LOC100131060 0 genome.wustl.edu 36 1 59137505 59137505 + Missense_Mutation SNP C T T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 1 59137505 59137505 C T SNP LOC100131060 XM_001726501 human genbank 54_36p +1 model missense c.335 p.T112M 0.001 NULL PatternScan_EGF_2 - no_errors DLG3 1741 genome.wustl.edu 36 X 69636517 69636517 + Missense_Mutation SNP G G A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 X 69636517 69636517 G A SNP DLG3 NM_021120 human genbank 54_36p +1 validated missense c.2038 p.E680K 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,HMMPfam_Guanylate_kin HMMPfam_MAGUK_N_PEST,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_PDZ_assoc,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin,HMMPfam_Gua_kin_assoc_C - no_errors AIFM2 84883 genome.wustl.edu 36 10 71544879 71544879 + Missense_Mutation SNP C C T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 10 71544879 71544879 C T SNP AIFM2 NM_032797 human genbank 54_36p -1 reviewed missense c.773 p.S258N 0.000 superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2 superfamily_FAD/NAD(P)-binding domain,HMMPfam_Pyr_redox_2 - no_errors LOC100129272 0 genome.wustl.edu 36 X 72359930 72359930 + RNA SNP T T C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 X 72359930 72359930 T C SNP LOC100129272 XR_038735 human genbank 54_36p +1 model rna NULL NULL 0.998 - - - pseudogene SLC4A4 8671 genome.wustl.edu 36 4 72535881 72535881 + Missense_Mutation SNP C T T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 4 72535881 72535881 C T SNP SLC4A4 NM_001098484 human genbank 54_36p +1 reviewed missense c.1321 p.R441W 1.000 HMMPfam_HCO3_cotransp superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp - no_errors CCDC40 55036 genome.wustl.edu 36 17 75638564 75638564 + Missense_Mutation SNP A A T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 17 75638564 75638564 A T SNP CCDC40 NM_017950 human genbank 54_36p +1 validated missense c.1046 p.H349L 0.869 NULL HMMPfam_BRE1 - no_errors ZFHX4 79776 genome.wustl.edu 36 8 77779354 77779354 + Missense_Mutation SNP A A T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 8 77779354 77779354 A T SNP ZFHX4 NM_024721 human genbank 54_36p +1 validated missense c.476 p.K159I 1.000 NULL HMMSmart_SM00355,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors LOC642546 0 genome.wustl.edu 36 X 79715262 79715262 + RNA SNP T T C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 X 79715262 79715262 T C SNP LOC642546 XR_038841 human genbank 54_36p -1 model rna NULL NULL 0.597 - - - pseudogene LOC401533 401533 genome.wustl.edu 36 9 83893375 83893375 + RNA SNP T T A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 9 83893375 83893375 T A SNP LOC401533 XR_016904 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene HTR1E 3354 genome.wustl.edu 36 6 87782410 87782410 + Silent SNP C C T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 6 87782410 87782410 C T SNP HTR1E NM_000865 human genbank 54_36p +1 validated silent c.639 p.Y213 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors WDR51B 282809 genome.wustl.edu 36 12 88389605 88389605 + Missense_Mutation SNP C C G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 12 88389605 88389605 C G SNP WDR51B NM_172240 human genbank 54_36p -1 provisional missense c.593 p.G198A 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors IGKC 3514 genome.wustl.edu 36 2 88938186 88938186 + Silent SNP C C T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 2 88938186 88938186 C T SNP IGKC ENST00000390237 human ensembl 54_36p -1 known silent c.126 p.R42 0.590 superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407 superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GFI1 2672 genome.wustl.edu 36 1 92721166 92721166 + Silent SNP C C G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 1 92721166 92721166 C G SNP GFI1 NM_005263 human genbank 54_36p -1 reviewed silent c.141 p.A47 0.824 NULL superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2HC - no_errors PAPOLA 10914 genome.wustl.edu 36 14 96091943 96091943 + Silent SNP C T T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 14 96091943 96091943 C T SNP PAPOLA NM_032632 human genbank 54_36p +1 validated silent c.1671 p.N557 1.000 NULL HMMPfam_PAP_central,superfamily_Nucleotidyltransferase,HMMPfam_NTP_transf_2,superfamily_PAP/OAS1 substrate-binding domain,superfamily_PAP/Archaeal CCA-adding enzyme C-terminal domain,HMMPfam_PAP_RNA-bind - no_errors GIGYF1 64599 genome.wustl.edu 36 7 100122250 100122250 + Missense_Mutation SNP C T T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 7 100122250 100122250 C T SNP GIGYF1 NM_022574 human genbank 54_36p -1 validated missense c.652 p.G218R 0.978 NULL superfamily_GYF,HMMPfam_GYF,HMMSmart_GYF - no_errors COL8A1 1295 genome.wustl.edu 36 3 100997561 100997561 + Missense_Mutation SNP G G A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 3 100997561 100997561 G A SNP COL8A1 NM_001850 human genbank 54_36p +1 reviewed missense c.2126 p.R709K 0.006 HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q HMMPfam_Collagen,HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q - no_errors ERP44 23071 genome.wustl.edu 36 9 101854628 101854628 + Missense_Mutation SNP A G G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 9 101854628 101854628 A G SNP ERP44 NM_015051 human genbank 54_36p -1 validated missense c.178 p.F60L 1.000 superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin superfamily_Thiordxn-like_fd,HMMPfam_Thioredoxin,PatternScan_ER_TARGET - no_errors GPRASP2 114928 genome.wustl.edu 36 X 101856608 101856608 + Missense_Mutation SNP C C G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 X 101856608 101856608 C G SNP GPRASP2 NM_001004051 human genbank 54_36p +1 validated missense c.155 p.T52S 0.318 NULL HMMPfam_DUF634,superfamily_ARM-type_fold - no_errors CINP 51550 genome.wustl.edu 36 14 101891947 101891947 + Missense_Mutation SNP A A T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 14 101891947 101891947 A T SNP CINP NM_032630 human genbank 54_36p -1 reviewed missense c.217 p.S73T 0.001 NULL NULL - no_errors MURC 347273 genome.wustl.edu 36 9 102388274 102388274 + Missense_Mutation SNP G G A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 9 102388274 102388274 G A SNP MURC NM_001018116 human genbank 54_36p +1 validated missense c.815 p.R272H 0.476 NULL NULL - no_errors LAMB1 3912 genome.wustl.edu 36 7 107359150 107359150 + Missense_Mutation SNP G C C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 7 107359150 107359150 G C SNP LAMB1 NM_002291 human genbank 54_36p -1 reviewed missense c.4424 p.A1475G 1.000 NULL HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_Prefoldin - no_errors ADRA2A 150 genome.wustl.edu 36 10 112828879 112828879 + Missense_Mutation SNP G T T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 10 112828879 112828879 G T SNP ADRA2A NM_000681 human genbank 54_36p +1 reviewed missense c.1090 p.G364W 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors IGSF2 9398 genome.wustl.edu 36 1 117353994 117353994 + Splice_Site SNP G G A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 1 117353994 117353994 G A SNP IGSF2 NM_004258 human genbank 54_36p +1 validated splice_site c.44-1 e2-1 0.858 - - - no_errors C5 727 genome.wustl.edu 36 9 122783942 122783942 + Splice_Site SNP C T T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 9 122783942 122783942 C T SNP C5 NM_001735 human genbank 54_36p -1 reviewed splice_site c.3486+1 e27+1 0.993 - - - no_errors CPXM2 119587 genome.wustl.edu 36 10 125504200 125504200 + Silent SNP G G A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 10 125504200 125504200 G A SNP CPXM2 NM_198148 human genbank 54_36p -1 validated silent c.1986 p.S662 0.632 HMMSmart_SM00631,superfamily_Carboxypeptidase regulatory domain superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,HMMSmart_SM00631,superfamily_Carboxypeptidase regulatory domain - no_errors OPN1SW 611 genome.wustl.edu 36 7 128202753 128202753 + Missense_Mutation SNP C C T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 7 128202753 128202753 C T SNP OPN1SW NM_001708 human genbank 54_36p -1 reviewed missense c.328 p.E110K 0.997 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,PatternScan_OPSIN - no_errors ATP2C1 27032 genome.wustl.edu 36 3 132201087 132201087 + Silent SNP T T C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 3 132201087 132201087 T C SNP ATP2C1 NM_001001486 human genbank 54_36p +1 reviewed silent c.2523 p.N841 1.000 superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Cation_ATPase_C HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Cation_ATPase_C - no_errors OC90 729330 genome.wustl.edu 36 8 133120253 133120253 + Silent SNP G G T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 8 133120253 133120253 G T SNP OC90 NM_001080399 human genbank 54_36p -1 validated silent c.546 p.T182 0.504 superfamily_Phospholipase A2 PLA2 HMMSmart_SM00085,superfamily_Phospholipase A2 PLA2,HMMPfam_Phospholip_A2_1,PatternScan_PA2_HIS,PatternScan_PA2_ASP - no_errors ZFAT 57623 genome.wustl.edu 36 8 135683117 135683117 + Missense_Mutation SNP G G A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 8 135683117 135683117 G A SNP ZFAT NM_020863 human genbank 54_36p -1 validated missense c.2027 p.S676L 0.005 NULL HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_SUGAR_TRANSPORT_1 - no_errors LOC100131316 0 genome.wustl.edu 36 2 136459524 136459524 + Missense_Mutation SNP G A A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 2 136459524 136459524 G A SNP LOC100131316 XM_001717835 human genbank 54_36p +1 model missense c.409 p.G137S 0.004 NULL NULL - no_errors LOC139363 0 genome.wustl.edu 36 X 137393476 137393476 + RNA SNP C C A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 X 137393476 137393476 C A SNP LOC139363 XR_040400 human genbank 54_36p +1 model rna NULL NULL 0.002 - - - no_errors CYP11B2 1585 genome.wustl.edu 36 8 143996099 143996099 + Missense_Mutation SNP G G C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 8 143996099 143996099 G C SNP CYP11B2 NM_000498 human genbank 54_36p -1 reviewed missense c.160 p.Q54E 0.998 HMMPfam_p450,superfamily_Cytochrome P450 HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 - no_errors ZFP41 286128 genome.wustl.edu 36 8 144403669 144403669 + Missense_Mutation SNP G G A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 8 144403669 144403669 G A SNP ZFP41 NM_173832 human genbank 54_36p +1 provisional missense c.281 p.R94Q 0.906 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors IL9R 3581 genome.wustl.edu 36 X 154893221 154893221 + Missense_Mutation SNP A A G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 X 154893221 154893221 A G SNP IL9R NM_002186 human genbank 54_36p +1 reviewed missense c.1519 p.M507V 0.001 NULL superfamily_FN_III-like,PatternScan_HEMATOPO_REC_S_F1 - no_errors LPAL2 80350 genome.wustl.edu 36 6 160841850 160841850 + Silent SNP A A G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 6 160841850 160841850 A G SNP LPAL2 NM_024492 human genbank 54_36p -1 validated silent c.162 p.S54 0.000 superfamily_Kringle-like,HMMSmart_KR,HMMPfam_Kringle superfamily_Kringle-like,HMMSmart_KR,HMMPfam_Kringle,PatternScan_KRINGLE_1 - no_errors DPP4 1803 genome.wustl.edu 36 2 162599995 162599995 + Silent SNP G A A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 2 162599995 162599995 G A SNP DPP4 NM_001935 human genbank 54_36p -1 reviewed silent c.699 p.V233 1.000 superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER - no_errors OTOL1 131149 genome.wustl.edu 36 3 162704308 162704308 + Missense_Mutation SNP C C A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 3 162704308 162704308 C A SNP OTOL1 NM_001080440 human genbank 54_36p +1 predicted missense c.1318 p.Q440K 1.000 HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q HMMPfam_Collagen,HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q - no_errors TTN 7273 genome.wustl.edu 36 2 179137035 179137035 + Missense_Mutation SNP G G T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 2 179137035 179137035 G T SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.70013 p.T23338K 0.998 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,superfamily_Fibronectin type III superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors TTN 7273 genome.wustl.edu 36 2 179292610 179292610 + Nonsense_Mutation SNP C C A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 2 179292610 179292610 C A SNP TTN ENST00000375038 human ensembl 54_36p -1 known nonsense c.20122 p.E6708* 0.998 HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses - no_errors OR2Y1 134083 genome.wustl.edu 36 5 180099395 180099395 + Silent SNP G G C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 5 180099395 180099395 G C SNP OR2Y1 NM_001001657 human genbank 54_36p -1 provisional silent c.270 p.R90 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors DGKG 1608 genome.wustl.edu 36 3 187469291 187469291 + Missense_Mutation SNP C C T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 3 187469291 187469291 C T SNP DGKG NM_001346 human genbank 54_36p -1 reviewed missense c.1109 p.R370Q 1.000 superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1 superfamily_EF-hand,HMMSmart_SM00054,PatternScan_EF_HAND_1,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045 - no_errors MUC4 4585 genome.wustl.edu 36 3 196986790 196986790 + Missense_Mutation SNP C C T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 3 196986790 196986790 C T SNP MUC4 NM_018406 human genbank 54_36p -1 reviewed missense c.3220 p.G1074R 0.926 NULL HMMSmart_SM00539,HMMPfam_NIDO,PatternScan_SUGAR_TRANSPORT_2,HMMSmart_SM00723,HMMPfam_AMOP,HMMSmart_SM00216,HMMPfam_VWD,PatternScan_EGF_1,HMMSmart_SM00181,superfamily_EGF/Laminin - no_errors TFRC 7037 genome.wustl.edu 36 3 197269883 197269883 + Silent SNP A A C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 3 197269883 197269883 A C SNP TFRC NM_003234 human genbank 54_36p -1 validated silent c.1554 p.T518 0.004 superfamily_Zn-dependent exopeptidases superfamily_Zn-dependent exopeptidases,superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer - no_errors SLC23A3 151295 genome.wustl.edu 36 2 219742573 219742573 + Silent SNP T T C novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 2 219742573 219742573 T C SNP SLC23A3 NM_144712 human genbank 54_36p -1 validated silent c.234 p.G78 0.235 HMMPfam_Xan_ur_permease HMMPfam_Xan_ur_permease - no_errors MIA3 375056 genome.wustl.edu 36 1 220869823 220869823 + Missense_Mutation SNP C C T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 1 220869823 220869823 C T SNP MIA3 NM_198551 human genbank 54_36p +1 validated missense c.2638 p.H880Y 0.001 NULL superfamily_SH3-domain,HMMPfam_SH3_2 - no_errors DOCK10 55619 genome.wustl.edu 36 2 225347922 225347922 + Missense_Mutation SNP G G A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 2 225347922 225347922 G A SNP DOCK10 NM_014689 human genbank 54_36p -1 validated missense c.5957 p.S1986L 1.000 HMMPfam_Ded_cyto superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto - no_errors OBSCN 84033 genome.wustl.edu 36 1 226541200 226541200 + Missense_Mutation SNP C C G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 1 226541200 226541200 C G SNP OBSCN NM_001098623 human genbank 54_36p +1 reviewed missense c.9381 p.C3127W 0.907 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_V-set,HMMSmart_SM00015,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Protein kinase-like (PK-like),PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,PatternScan_PROTEIN_KINASE_TYR - no_errors CAB39 51719 genome.wustl.edu 36 2 231391502 231391502 + Nonsense_Mutation SNP C C T novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 2 231391502 231391502 C T SNP CAB39 NM_016289 human genbank 54_36p +1 validated nonsense c.865 p.Q289* 0.996 HMMPfam_Mo25,superfamily_ARM repeat HMMPfam_Mo25,superfamily_ARM repeat - no_errors ADSS 159 genome.wustl.edu 36 1 242662485 242662485 + Missense_Mutation SNP C C G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 1 242662485 242662485 C G SNP ADSS NM_001126 human genbank 54_36p -1 reviewed missense c.391 p.D131H 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Adenylsucc_synt,HMMSmart_SM00788 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Adenylsucc_synt,HMMSmart_SM00788,PatternScan_ADENYLOSUCCIN_SYN_1,PatternScan_ADENYLOSUCCIN_SYN_2 - no_errors OR2B11 127623 genome.wustl.edu 36 1 245681443 245681443 + Silent SNP A A G novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 1 245681443 245681443 A G SNP OR2B11 NM_001004492 human genbank 54_36p -1 provisional silent c.465 p.S155 0.515 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors DSP 1832 genome.wustl.edu 36 6 7504594 7504612 + Frame_Shift_Del DEL GTCACCAGTGAATGTTTGG GTCACCAGTGAATGTTTGG - novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 GTCACCAGTGAATGTTTGG GTCACCAGTGAATGTTTGG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 6 7504594 7504612 GTCACCAGTGAATGTTTGG - DEL DSP NM_004415 human genbank 54_36p +1 reviewed frame_shift_del c.559_577 p.V187fs 0.992:0.997:0.997:1.000:1.000:0.998:0.996:0.997:0.996:1.000:0.995:0.836:0.856:0.848:0.653:0.658:0.980:0.990:0.996 superfamily_Spectrin repeat,HMMSmart_SM00150 superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_Prefoldin,superfamily_tRNA-binding arm,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin (deletion:cds_exon[7504458,7504632]) no_errors TP53 7157 genome.wustl.edu 36 17 7519209 7519210 + Frame_Shift_Ins INS - - A novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 17 7519209 7519210 - A INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.446_445 p.S149fs 0.000:0.000 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 RAI1 10743 genome.wustl.edu 36 17 17640852 17640859 + Frame_Shift_Del DEL GCCACAAA GCCACAAA - novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 GCCACAAA GCCACAAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 17 17640852 17640859 GCCACAAA - DEL RAI1 NM_030665 human genbank 54_36p +1 reviewed frame_shift_del c.3865_3872 p.T1290fs 0.000:0.001:0.001:0.000:0.000:0.007:0.043:0.053 NULL HMMSmart_SM00249 (deletion:cds_exon[17636988,17642552]) no_errors BRCA1 672 genome.wustl.edu 36 17 38497608 38497609 + Frame_Shift_Ins INS - - ATCTAACA novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 17 38497608 38497609 - ATCTAACA INS BRCA1 NM_007294 human genbank 54_36p -1 reviewed frame_shift_ins c.3466_3465 p.D1155fs 0.515:0.581 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain - no_errors FBXW12 285231 genome.wustl.edu 36 3 48394881 48394912 + Frame_Shift_Del DEL ATCTCGCCATCACTATGGATCGGAAAAAAACT ATCTCGCCATCACTATGGATCGGAAAAAAACT - novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 ATCTCGCCATCACTATGGATCGGAAAAAAACT ATCTCGCCATCACTATGGATCGGAAAAAAACT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 3 48394881 48394912 ATCTCGCCATCACTATGGATCGGAAAAAAACT - DEL FBXW12 NM_207102 human genbank 54_36p +1 provisional frame_shift_del c.476_507 p.L160fs 0.001:0.000:0.000:0.000:0.000:0.003:0.000:0.000:0.000:0.001:0.001:0.003:0.003:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.013:0.034:0.100 superfamily_WD40_like PatternScan_WD_REPEATS_1,HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF81383,superfamily_WD40_like (deletion:cds_exon[48394811,48395020]) no_errors IP6K2 51447 genome.wustl.edu 36 3 48707554 48707568 + In_Frame_Del DEL TCTCAGCAGGGAGGG TCTCAGCAGGGAGGG - novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 TCTCAGCAGGGAGGG TCTCAGCAGGGAGGG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 3 48707554 48707568 TCTCAGCAGGGAGGG - DEL IP6K2 NM_001005909 human genbank 54_36p -1 reviewed in_frame_del c.175_161 p.TLPAE54in_frame_del 1.000:1.000:1.000:1.000:0.956:0.978:0.946:0.900:1.000:1.000:1.000:1.000:1.000:0.995:1.000 superfamily_SAICAR synthase-like superfamily_SAICAR synthase-like,HMMPfam_IPK (deletion:cds_exon[48707527,48707728]) no_errors IP6K2 51447 genome.wustl.edu 36 3 48707680 48707680 + Frame_Shift_Del DEL C C - novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 3 48707680 48707680 C - DEL IP6K2 NM_001005909 human genbank 54_36p -1 reviewed frame_shift_del c.49 p.V17fs 0.998 NULL HMMPfam_IPK,superfamily_SAICAR synthase-like (deletion:cds_exon[48707527,48707728]) no_errors GRIN2D 2906 genome.wustl.edu 36 19 53614639 53614655 + Splice_Site DEL CCTGGCCCCCTGCAGGC CCTGGCCCCCTGCAGGC - novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 CCTGGCCCCCTGCAGGC CCTGGCCCCCTGCAGGC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 19 53614639 53614655 CCTGGCCCCCTGCAGGC - DEL GRIN2D NM_000836 human genbank 54_36p +1 reviewed splice_site_del c.1862-15_1862-1 e8-1 0.985:0.991:0.989:0.950:0.509:0.424:0.034:0.033:0.022:0.022:0.025:0.073:0.898:0.999:1.000:0.986:0.968 - - (deletion:intron[53614429,53614653], cds_exon[53614654,53614883]) no_errors NEXN 91624 genome.wustl.edu 36 1 78156500 78156516 + Frame_Shift_Del DEL TAGAAAAGAGGAAAATA TAGAAAAGAGGAAAATA - novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 TAGAAAAGAGGAAAATA TAGAAAAGAGGAAAATA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 1 78156500 78156516 TAGAAAAGAGGAAAATA - DEL NEXN NM_144573 human genbank 54_36p +1 validated frame_shift_del c.401_417 p.L134fs 0.812:0.838:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:1.000:1.000:0.945 NULL superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409 (deletion:cds_exon[78156398,78156546]) no_errors NEXN 91624 genome.wustl.edu 36 1 78156518 78156527 + Frame_Shift_Del DEL AGCGTGAATT AGCGTGAATT - novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 AGCGTGAATT AGCGTGAATT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 1 78156518 78156527 AGCGTGAATT - DEL NEXN NM_144573 human genbank 54_36p +1 validated frame_shift_del c.419_428 p.R141fs 1.000:1.000:1.000:0.999:0.960:1.000:1.000:0.999:0.998:1.000 NULL HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin (deletion:cds_exon[78156398,78156546]) no_errors RAPGEF1 2889 genome.wustl.edu 36 9 133491196 133491216 + In_Frame_Del DEL TAAAATCACCCACAAATTCGA TAAAATCACCCACAAATTCGA - novel unknown TCGA-24-1846-01A-01W-0639-09 TCGA-24-1846-10A-01W-0639-09 TAAAATCACCCACAAATTCGA TAAAATCACCCACAAATTCGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 1978f4b1-64bb-414a-a514-5714616b5bde c983f89b-f83f-459e-9343-d653755672b1 9 133491196 133491216 TAAAATCACCCACAAATTCGA - DEL RAPGEF1 NM_198679 human genbank 54_36p -1 reviewed in_frame_del c.1639_1619 p.VEFVGDFT540in_frame_delA 0.997:0.998:1.000:1.000:0.998:1.000:1.000:0.995:0.995:0.996:0.997:1.000:1.000:1.000:1.000:1.000:0.982:0.987:0.981:0.156:0.212 NULL superfamily_Ras_GEF,HMMSmart_RasGEFN,HMMPfam_RasGEF_N,HMMSmart_RasGEF,HMMPfam_RasGEF,PatternScan_RASGEF (deletion:cds_exon[133491130,133491630]) no_errors