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 NME4 4833 genome.wustl.edu 36 16 389125 389125 + Splice_Site SNP G A A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 16 389125 389125 G A SNP NME4 NM_005009 human genbank 54_36p +1 validated splice_site c.225+1 e2+1 1.000 - - - no_errors UBXN6 80700 genome.wustl.edu 36 19 4403483 4403483 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 19 4403483 4403483 C A SNP UBXN6 NM_025241 human genbank 54_36p -1 provisional nonsense c.319 p.E107* 0.200 NULL HMMPfam_PUB,HMMSmart_SM00580,superfamily_Ubiquitin-like,HMMSmart_SM00166,HMMPfam_UBX - no_errors STS 412 genome.wustl.edu 36 X 7278262 7278262 + Missense_Mutation SNP A A G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d X 7278262 7278262 A G SNP STS NM_000351 human genbank 54_36p +1 reviewed missense c.1712 p.Q571R 0.940 superfamily_Alkaline_phosphatase_core superfamily_Alkaline_phosphatase_core,HMMPfam_Sulfatase,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2 - no_errors CD163L1 283316 genome.wustl.edu 36 12 7476449 7476449 + Missense_Mutation SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 12 7476449 7476449 G A SNP CD163L1 NM_174941 human genbank 54_36p -1 reviewed missense c.596 p.P199L 0.784 superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR,PatternScan_SRCR_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7517839 7517839 + Missense_Mutation SNP C C G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 17 7517839 7517839 C G SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.824 p.C275S 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors APOBEC1 339 genome.wustl.edu 36 12 7696622 7696622 + Missense_Mutation SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 12 7696622 7696622 C T SNP APOBEC1 NM_001644 human genbank 54_36p -1 reviewed missense c.121 p.E41K 0.642 HMMPfam_APOBEC_N HMMPfam_APOBEC_N,superfamily_Cytidine_deaminase-like,PatternScan_CYT_DCMP_DEAMINASES,HMMPfam_APOBEC_C - no_errors ERI1 90459 genome.wustl.edu 36 8 8913285 8913285 + Missense_Mutation SNP G G T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 8 8913285 8913285 G T SNP ERI1 NM_153332 human genbank 54_36p +1 validated missense c.651 p.K217N 1.000 superfamily_RNaseH_fold,HMMSmart_EXOIII,HMMPfam_Exonuc_X-T HMMPfam_SAP,HMMSmart_SAP,superfamily_RNaseH_fold,HMMSmart_EXOIII,HMMPfam_Exonuc_X-T - no_errors LOC100132755 0 genome.wustl.edu 36 Y 10647825 10647825 + Missense_Mutation SNP T T C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 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 CARM1 10498 genome.wustl.edu 36 19 10883931 10883931 + Missense_Mutation SNP C C G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 19 10883931 10883931 C G SNP CARM1 NM_199141 human genbank 54_36p +1 validated missense c.630 p.I210M 1.000 superfamily_SSF53335,HMMPfam_PrmA superfamily_SSF53335,HMMPfam_PrmA - no_errors CARM1 10498 genome.wustl.edu 36 19 10891271 10891271 + Missense_Mutation SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 19 10891271 10891271 G A SNP CARM1 NM_199141 human genbank 54_36p +1 validated missense c.1021 p.D341N 1.000 superfamily_SSF53335 HMMPfam_PrmA,superfamily_SSF53335 - no_errors PTCHD2 57540 genome.wustl.edu 36 1 11484060 11484060 + Missense_Mutation SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 1 11484060 11484060 G A SNP PTCHD2 NM_020780 human genbank 54_36p +1 validated missense c.424 p.D142N 0.938 NULL HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain - no_errors DNAH5 1767 genome.wustl.edu 36 5 13976470 13976470 + Silent SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 5 13976470 13976470 G A SNP DNAH5 NM_001369 human genbank 54_36p -1 validated silent c.357 p.N119 0.938 NULL HMMPfam_DHC_N1,superfamily_Spectrin,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors TRIO 7204 genome.wustl.edu 36 5 14422614 14422614 + Missense_Mutation SNP G G C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 5 14422614 14422614 G C SNP TRIO NM_007118 human genbank 54_36p +1 validated missense c.3198 p.Q1066H 1.000 NULL superfamily_CRAL/TRIO domain,HMMSmart_SM00516,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST - no_errors NRIP1 8204 genome.wustl.edu 36 21 15259300 15259300 + Missense_Mutation SNP G G C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 21 15259300 15259300 G C SNP NRIP1 NM_003489 human genbank 54_36p -1 reviewed missense c.3085 p.L1029V 0.724 NULL NULL - no_errors RPS6KA3 6197 genome.wustl.edu 36 X 20095754 20095754 + Silent SNP T T C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d X 20095754 20095754 T C SNP RPS6KA3 NM_004586 human genbank 54_36p -1 reviewed silent c.1476 p.V492 1.000 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C - no_errors MBOAT1 154141 genome.wustl.edu 36 6 20259396 20259396 + Nonsense_Mutation SNP T T A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 6 20259396 20259396 T A SNP MBOAT1 NM_001080480 human genbank 54_36p -1 provisional nonsense c.322 p.R108* 1.000 NULL HMMPfam_MBOAT - no_errors RTDR1 27156 genome.wustl.edu 36 22 21806296 21806296 + Missense_Mutation SNP A A G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 22 21806296 21806296 A G SNP RTDR1 NM_014433 human genbank 54_36p -1 reviewed missense c.338 p.L113P 0.992 superfamily_ARM-type_fold superfamily_ARM-type_fold,HMMPfam_Arm - no_errors ELAVL2 1993 genome.wustl.edu 36 9 23682735 23682735 + Silent SNP T T A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 9 23682735 23682735 T A SNP ELAVL2 NM_004432 human genbank 54_36p -1 validated silent c.900 p.G300 1.000 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors CASC1 55259 genome.wustl.edu 36 12 25191305 25191305 + Missense_Mutation SNP G G C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 12 25191305 25191305 G C SNP CASC1 NM_018272 human genbank 54_36p -1 validated missense c.586 p.Q196E 1.000 NULL NULL - no_errors HIST1H1C 3006 genome.wustl.edu 36 6 26164516 26164516 + Silent SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 6 26164516 26164516 C T SNP HIST1H1C NM_005319 human genbank 54_36p -1 reviewed silent c.120 p.V40 1.000 "HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Linker_histone" "HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Linker_histone" - no_errors HOXA2 3199 genome.wustl.edu 36 7 27107596 27107596 + Silent SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 7 27107596 27107596 G A SNP HOXA2 NM_006735 human genbank 54_36p -1 reviewed silent c.405 p.I135 0.994 superfamily_Homeodomain_like PatternScan_ANTENNAPEDIA,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors LIG3 3980 genome.wustl.edu 36 17 30352444 30352444 + Missense_Mutation SNP C C A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 17 30352444 30352444 C A SNP LIG3 NM_013975 human genbank 54_36p +1 reviewed missense c.2387 p.T796K 0.996 NULL superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_zf-PARP,PatternScan_PARP_ZN_FINGER_1,HMMPfam_DNA_ligase_A_N,superfamily_DNA ligase/mRNA capping enzyme catalytic domain,HMMPfam_DNA_ligase_A_M,PatternScan_DNA_LIGASE_A1,PatternScan_DNA_LIGASE_A2,HMMPfam_DNA_ligase_A_C,superfamily_BRCT domain,HMMSmart_SM00292 - no_errors BAT2 7916 genome.wustl.edu 36 6 31701284 31701284 + Missense_Mutation SNP C C G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 6 31701284 31701284 C G SNP BAT2 NM_080686 human genbank 54_36p +1 reviewed missense c.676 p.H226D 0.875 NULL HMMPfam_BAT2_N - no_errors LOC100130233 0 genome.wustl.edu 36 X 32134282 32134282 + RNA SNP G G T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d X 32134282 32134282 G T SNP LOC100130233 XR_038856 human genbank 54_36p +1 model rna NULL NULL 0.994 - - - pseudogene TADA2L 6871 genome.wustl.edu 36 17 32911109 32911109 + Missense_Mutation SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 17 32911109 32911109 C T SNP TADA2L NM_001488 human genbank 54_36p +1 reviewed missense c.1241 p.A414V 0.999 HMMPfam_SWIRM superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding,HMMPfam_SWIRM - no_errors HNF1B 6928 genome.wustl.edu 36 17 33133292 33133292 + Missense_Mutation SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 17 33133292 33133292 G A SNP HNF1B NM_000458 human genbank 54_36p -1 validated missense c.1556 p.P519L 1.000 HMMPfam_HNF-1B_C superfamily_Dimerization cofactor of HNF-1 alpha,HMMPfam_HNF-1_N,superfamily_lambda repressor-like DNA-binding domains,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_HNF-1B_C - no_errors KIAA0319L 79932 genome.wustl.edu 36 1 35744799 35744799 + Splice_Site SNP C C A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 1 35744799 35744799 C A SNP KIAA0319L NM_024874 human genbank 54_36p -1 reviewed splice_site c.666+1 e2+1 1.000 - - - no_errors C5orf42 65250 genome.wustl.edu 36 5 37219433 37219433 + Missense_Mutation SNP G G T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 5 37219433 37219433 G T SNP C5orf42 NM_023073 human genbank 54_36p -1 predicted missense c.1250 p.P417H 1.000 NULL NULL - no_errors BRCA1 672 genome.wustl.edu 36 17 38499653 38499653 + Nonsense_Mutation SNP A A C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 17 38499653 38499653 A C SNP BRCA1 NM_007294 human genbank 54_36p -1 reviewed nonsense c.1421 p.L474* 0.000 NULL superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain - no_errors MPP2 4355 genome.wustl.edu 36 17 39315373 39315373 + Silent SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 17 39315373 39315373 C T SNP MPP2 NM_005374 human genbank 54_36p -1 reviewed silent c.486 p.L162 1.000 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 HMMSmart_SM00569,HMMPfam_L27,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin - no_errors ITGA2B 3674 genome.wustl.edu 36 17 39811589 39811589 + Missense_Mutation SNP C T T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 17 39811589 39811589 C T SNP ITGA2B NM_000419 human genbank 54_36p -1 reviewed missense c.1894 p.D632N 1.000 HMMPfam_Integrin_alpha2,superfamily_Integrin domains superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors HNF4A 3172 genome.wustl.edu 36 20 42468148 42468148 + Missense_Mutation SNP C C G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 20 42468148 42468148 C G SNP HNF4A NM_000457 human genbank 54_36p +1 reviewed missense c.152 p.P51R 0.993 NULL HMMSmart_SM00399,HMMPfam_zf-C4,superfamily_Glucocorticoid receptor-like (DNA-binding domain),PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,HMMSmart_SM00430,HMMPfam_Hormone_recep - no_errors MAP4K1 11184 genome.wustl.edu 36 19 43793544 43793544 + Missense_Mutation SNP G G T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 19 43793544 43793544 G T SNP MAP4K1 NM_007181 human genbank 54_36p -1 validated missense c.797 p.T266N 0.988 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,HMMSmart_CNH,HMMPfam_CNH - no_errors ANO6 196527 genome.wustl.edu 36 12 44101150 44101150 + Missense_Mutation SNP G G T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 12 44101150 44101150 G T SNP ANO6 NM_001025356 human genbank 54_36p +1 validated missense c.2247 p.M749I 1.000 HMMPfam_DUF590 HMMPfam_DUF590 - no_errors C21orf2 755 genome.wustl.edu 36 21 44576301 44576301 + Missense_Mutation SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 21 44576301 44576301 C T SNP C21orf2 NM_004928 human genbank 54_36p -1 validated missense c.398 p.R133H 0.924 superfamily_Outer arm dynein light chain 1 superfamily_Outer arm dynein light chain 1,HMMSmart_SM00446 - no_errors RAMP3 10268 genome.wustl.edu 36 7 45189430 45189430 + Missense_Mutation SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 7 45189430 45189430 C T SNP RAMP3 NM_005856 human genbank 54_36p +1 reviewed missense c.341 p.P114L 1.000 HMMPfam_RAMP HMMPfam_RAMP - no_errors MRO 83876 genome.wustl.edu 36 18 46585560 46585560 + Missense_Mutation SNP T T G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 18 46585560 46585560 T G SNP MRO NM_031939 human genbank 54_36p -1 reviewed missense c.391 p.I131L 0.959 superfamily_ARM repeat superfamily_ARM repeat - no_errors GPR111 222611 genome.wustl.edu 36 6 47757618 47757618 + Missense_Mutation SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 6 47757618 47757618 G A SNP GPR111 NM_153839 human genbank 54_36p +1 validated missense c.1160 p.G387D 1.000 NULL HMMPfam_GPS,HMMPfam_7tm_2 - no_errors NOD2 64127 genome.wustl.edu 36 16 49291259 49291259 + Missense_Mutation SNP C C A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 16 49291259 49291259 C A SNP NOD2 NM_022162 human genbank 54_36p +1 reviewed missense c.433 p.L145I 0.993 superfamily_DEATH domain,HMMPfam_CARD HMMPfam_CARD,superfamily_DEATH domain,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368,HMMPfam_LRR_1 - no_errors C10orf71 118461 genome.wustl.edu 36 10 50202790 50202790 + Missense_Mutation SNP T T A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 10 50202790 50202790 T A SNP C10orf71 ENST00000374144 human ensembl 54_36p +1 known missense c.2194 p.S732T 1.000 NULL PatternScan_SUGAR_TRANSPORT_1 - no_errors LOC645693 645693 genome.wustl.edu 36 15 51016503 51016503 + RNA SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 15 51016503 51016503 C T SNP LOC645693 XR_017498 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene MC3R 4159 genome.wustl.edu 36 20 54258225 54258225 + Missense_Mutation SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 20 54258225 54258225 C T SNP MC3R NM_019888 human genbank 54_36p +1 reviewed missense c.1030 p.R344C 1.000 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors DST 667 genome.wustl.edu 36 6 56591829 56591829 + Silent SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 6 56591829 56591829 C T SNP DST NM_001723 human genbank 54_36p -1 reviewed silent c.4962 p.A1654 0.752 NULL HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin - no_errors VPS13C 54832 genome.wustl.edu 36 15 60044305 60044305 + Silent SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 15 60044305 60044305 G A SNP VPS13C NM_020821 human genbank 54_36p -1 validated silent c.3099 p.V1033 0.996 NULL HMMPfam_DUF1162 - no_errors C1orf87 127795 genome.wustl.edu 36 1 60248671 60248671 + Missense_Mutation SNP C C A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 1 60248671 60248671 C A SNP C1orf87 NM_152377 human genbank 54_36p -1 predicted missense c.1173 p.L391F 0.018 NULL superfamily_EF-hand - no_errors CD5 921 genome.wustl.edu 36 11 60645729 60645729 + Silent SNP C C A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 11 60645729 60645729 C A SNP CD5 NM_014207 human genbank 54_36p +1 validated silent c.876 p.R292 0.706 superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR superfamily_SRCR-like,HMMSmart_SM00202,HMMPfam_SRCR - no_errors NLRP5 126206 genome.wustl.edu 36 19 61256870 61256870 + Silent SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 19 61256870 61256870 C T SNP NLRP5 NM_153447 human genbank 54_36p +1 reviewed silent c.3126 p.I1042 0.006 superfamily_RNI-like,HMMSmart_SM00368 superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368 - no_errors USP34 9736 genome.wustl.edu 36 2 61486661 61486661 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 2 61486661 61486661 G A SNP USP34 NM_014709 human genbank 54_36p -1 validated nonsense c.238 p.Q80* 1.000 NULL superfamily_Cysteine proteinases,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2 - no_errors HERC1 8925 genome.wustl.edu 36 15 61832264 61832264 + Missense_Mutation SNP A A C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 15 61832264 61832264 A C SNP HERC1 NM_003922 human genbank 54_36p -1 reviewed missense c.1848 p.I616M 1.000 superfamily_RCC1/BLIP-II superfamily_RCC1/BLIP-II,HMMPfam_RCC1,PatternScan_RCC1_2,HMMSmart_SM00449,HMMPfam_SPRY,PatternScan_PHOSPHOPANTETHEINE,HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,PatternScan_ARGINASE_2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors L1TD1 54596 genome.wustl.edu 36 1 62449171 62449171 + Missense_Mutation SNP T G G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 1 62449171 62449171 T G SNP L1TD1 NM_019079 human genbank 54_36p +1 validated missense c.2137 p.Y713D 0.000 HMMPfam_Transposase_22 HMMPfam_Transposase_22 - no_errors L1TD1 54596 genome.wustl.edu 36 1 62449580 62449580 + Missense_Mutation SNP A A G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 1 62449580 62449580 A G SNP L1TD1 NM_019079 human genbank 54_36p +1 validated missense c.2546 p.Y849C 0.001 HMMPfam_Transposase_22 HMMPfam_Transposase_22 - no_errors CDH11 1009 genome.wustl.edu 36 16 63563045 63563045 + Missense_Mutation SNP A A C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 16 63563045 63563045 A C SNP CDH11 NM_001797 human genbank 54_36p -1 reviewed missense c.1580 p.F527C 1.000 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors KCTD19 146212 genome.wustl.edu 36 16 65912162 65912162 + Nonsense_Mutation SNP G G C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 16 65912162 65912162 G C SNP KCTD19 NM_001100915 human genbank 54_36p -1 provisional nonsense c.131 p.S44* 0.508 superfamily_BTB/POZ_fold,HMMPfam_K_tetra superfamily_BTB/POZ_fold,HMMPfam_K_tetra - no_errors LRIG1 26018 genome.wustl.edu 36 3 66513796 66513796 + Missense_Mutation SNP C C A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 3 66513796 66513796 C A SNP LRIG1 NM_015541 human genbank 54_36p -1 validated missense c.2950 p.A984S 0.000 NULL HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408 - no_errors TMCO7 79613 genome.wustl.edu 36 16 67519078 67519078 + Missense_Mutation SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 16 67519078 67519078 G A SNP TMCO7 NM_024562 human genbank 54_36p +1 validated missense c.2234 p.R745H 1.000 superfamily_ARM repeat,HMMPfam_DUF2435 superfamily_ARM repeat,HMMPfam_DUF2435,HMMPfam_HEAT,HMMPfam_DUF2411 - no_errors SAPS3 55291 genome.wustl.edu 36 11 68124424 68124424 + Missense_Mutation SNP C C G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 11 68124424 68124424 C G SNP SAPS3 NM_018312 human genbank 54_36p +1 validated missense c.1838 p.T613R 0.973 NULL HMMPfam_SAPS - no_errors HYDIN 54768 genome.wustl.edu 36 16 69483791 69483791 + Missense_Mutation SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 16 69483791 69483791 C T SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.9388 p.E3130K 0.039 NULL superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ST6GALNAC1 55808 genome.wustl.edu 36 17 72137032 72137032 + Missense_Mutation SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 17 72137032 72137032 G A SNP ST6GALNAC1 NM_018414 human genbank 54_36p -1 validated missense c.488 p.T163M 0.001 NULL HMMPfam_Glyco_transf_29 - no_errors GLG1 2734 genome.wustl.edu 36 16 73060432 73060432 + Silent SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 16 73060432 73060432 G A SNP GLG1 NM_012201 human genbank 54_36p -1 validated silent c.2349 p.T783 0.300 HMMPfam_Cys_rich_FGFR HMMPfam_Cys_rich_FGFR - no_errors LOC653079 653079 genome.wustl.edu 36 12 75578585 75578585 + RNA SNP T T C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 12 75578585 75578585 T C SNP LOC653079 XR_016115 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene ZDHHC17 23390 genome.wustl.edu 36 12 75768811 75768811 + Missense_Mutation SNP T T C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 12 75768811 75768811 T C SNP ZDHHC17 NM_015336 human genbank 54_36p +1 validated missense c.1814 p.L605P 1.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_zf-DHHC - no_errors ARD1B 84779 genome.wustl.edu 36 4 80465511 80465511 + Missense_Mutation SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 4 80465511 80465511 C T SNP ARD1B NM_032693 human genbank 54_36p -1 validated missense c.545 p.G182D 0.000 NULL superfamily_Acyl_CoA_acyltransferase,HMMPfam_Acetyltransf_1 - no_errors SEMA3E 9723 genome.wustl.edu 36 7 82867367 82867367 + Missense_Mutation SNP T T A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 7 82867367 82867367 T A SNP SEMA3E NM_012431 human genbank 54_36p -1 provisional missense c.1279 p.T427S 0.944 superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig - no_errors DNHL1 284944 genome.wustl.edu 36 2 84654189 84654189 + Missense_Mutation SNP C C A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 2 84654189 84654189 C A SNP DNHL1 ENST00000237449 human ensembl 54_36p +1 known missense c.1891 p.L631I 1.000 NULL HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors PICALM 8301 genome.wustl.edu 36 11 85363495 85363495 + Missense_Mutation SNP T T A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 11 85363495 85363495 T A SNP PICALM NM_007166 human genbank 54_36p -1 validated missense c.1848 p.Q616H 0.998 NULL superfamily_ENTH/VHS domain,HMMPfam_ANTH,HMMSmart_SM00273,superfamily_GAT-like domain - no_errors RGR 5995 genome.wustl.edu 36 10 86002636 86002636 + Silent SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 10 86002636 86002636 C T SNP RGR NM_002921 human genbank 54_36p +1 reviewed silent c.414 p.F138 0.721 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_OPSIN - no_errors LOC729843 729843 genome.wustl.edu 36 2 87010745 87010745 + RNA SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 2 87010745 87010745 G A SNP LOC729843 XR_016056 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene KCNK10 54207 genome.wustl.edu 36 14 87724170 87724170 + Missense_Mutation SNP T T C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 14 87724170 87724170 T C SNP KCNK10 NM_138317 human genbank 54_36p -1 reviewed missense c.905 p.K302R 1.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2 - no_errors NPAS2 4862 genome.wustl.edu 36 2 100887651 100887651 + Missense_Mutation SNP G G C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 2 100887651 100887651 G C SNP NPAS2 NM_002518 human genbank 54_36p +1 reviewed missense c.3 p.M1I 1.000 NULL superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH,HMMSmart_PAS,HMMPfam_PAS,superfamily_SSF55785,HMMPfam_PAS_3,HMMSmart_PAC - no_errors TBC1D8 11138 genome.wustl.edu 36 2 101018924 101018924 + Missense_Mutation SNP G G T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 2 101018924 101018924 G T SNP TBC1D8 NM_001102426 human genbank 54_36p -1 validated missense c.1546 p.L516I 1.000 superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164 HMMPfam_GRAM,HMMSmart_SM00568,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164,superfamily_EF-hand - no_errors PAH 5053 genome.wustl.edu 36 12 101773228 101773228 + Silent SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 12 101773228 101773228 G A SNP PAH NM_000277 human genbank 54_36p -1 reviewed silent c.522 p.I174 0.993 superfamily_Aaa_hydroxylase,HMMPfam_Biopterin_H superfamily_SSF55021,HMMPfam_ACT,superfamily_Aaa_hydroxylase,HMMPfam_Biopterin_H,PatternScan_BIOPTERIN_HYDROXYL - no_errors SENP7 57337 genome.wustl.edu 36 3 102660489 102660489 + Missense_Mutation SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 3 102660489 102660489 C T SNP SENP7 NM_020654 human genbank 54_36p -1 validated missense c.284 p.R95K 1.000 NULL superfamily_Cysteine proteinases,HMMPfam_Peptidase_C48 - no_errors MGEA5 10724 genome.wustl.edu 36 10 103553601 103553601 + Missense_Mutation SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 10 103553601 103553601 C T SNP MGEA5 NM_012215 human genbank 54_36p -1 validated missense c.917 p.R306Q 1.000 HMMPfam_NAGidase HMMPfam_NAGidase,superfamily_Acyl-CoA N-acyltransferases (Nat) - no_errors IGHD 0 genome.wustl.edu 36 14 105378599 105378599 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 14 105378599 105378599 G A SNP IGHD ENST00000390556 human ensembl 54_36p -1 known nonsense c.484 p.R162* 0.009 NULL superfamily_Immunoglobulin,HMMPfam_C1-set,HMMSmart_SM00407,PatternScan_IG_MHC,HMMPfam_ig - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CAPN6 827 genome.wustl.edu 36 X 110380866 110380866 + Missense_Mutation SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d X 110380866 110380866 C T SNP CAPN6 NM_014289 human genbank 54_36p -1 reviewed missense c.1093 p.D365N 0.992 HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2 PatternScan_THIOL_PROTEASE_CYS,PatternScan_THIOL_PROTEASE_HIS,PatternScan_THIOL_PROTEASE_ASN,superfamily_SSF54001,HMMSmart_CysPc,HMMPfam_Peptidase_C2,HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors LOC285412 285412 genome.wustl.edu 36 4 113597093 113597093 + RNA SNP G G C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 4 113597093 113597093 G C SNP LOC285412 XR_017405 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene ANK2 287 genome.wustl.edu 36 4 114472581 114472581 + Missense_Mutation SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 4 114472581 114472581 C T SNP ANK2 NM_001148 human genbank 54_36p +1 reviewed missense c.3130 p.L1044F 1.000 HMMPfam_ZU5 superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_ZU5,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death - no_errors PARP9 83666 genome.wustl.edu 36 3 123729939 123729939 + Missense_Mutation SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 3 123729939 123729939 G A SNP PARP9 NM_031458 human genbank 54_36p -1 provisional missense c.2527 p.P843S 0.000 NULL superfamily_Macro domain-like,HMMSmart_SM00506,HMMPfam_Macro,superfamily_ADP-ribosylation,HMMPfam_PARP - no_errors OR8B12 219858 genome.wustl.edu 36 11 123918083 123918083 + Missense_Mutation SNP G G T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 11 123918083 123918083 G T SNP OR8B12 NM_001005195 human genbank 54_36p -1 provisional missense c.678 p.H226Q 0.000 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 FAM102A 399665 genome.wustl.edu 36 9 129750487 129750487 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 9 129750487 129750487 C A SNP FAM102A NM_001035254 human genbank 54_36p -1 validated nonsense c.442 p.G148* 1.000 HMMPfam_Eeig1 HMMPfam_Eeig1 - no_errors GPR148 344561 genome.wustl.edu 36 2 131203741 131203741 + Missense_Mutation SNP C C G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 2 131203741 131203741 C G SNP GPR148 NM_207364 human genbank 54_36p +1 provisional missense c.547 p.L183V 0.001 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors COL6A6 131873 genome.wustl.edu 36 3 131772840 131772840 + Missense_Mutation SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 3 131772840 131772840 G A SNP COL6A6 NM_001102608 human genbank 54_36p +1 provisional missense c.2890 p.D964N 0.753 superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen - no_errors LOC100133263 0 genome.wustl.edu 36 3 132584782 132584782 + Missense_Mutation SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 3 132584782 132584782 C T SNP LOC100133263 XM_001717995 human genbank 54_36p -1 model missense c.88 p.A30T 0.008 NULL NULL - no_errors ATP11C 286410 genome.wustl.edu 36 X 138736630 138736630 + Missense_Mutation SNP G G C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d X 138736630 138736630 G C SNP ATP11C NM_173694 human genbank 54_36p -1 validated missense c.55 p.R19G 0.988 NULL HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N - no_errors CEP70 80321 genome.wustl.edu 36 3 139710023 139710023 + Missense_Mutation SNP T T G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 3 139710023 139710023 T G SNP CEP70 NM_024491 human genbank 54_36p -1 validated missense c.998 p.E333A 0.609 NULL NULL - no_errors PCDHGA6 56109 genome.wustl.edu 36 5 140735753 140735753 + Missense_Mutation SNP A A G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 5 140735753 140735753 A G SNP PCDHGA6 NM_018919 human genbank 54_36p +1 reviewed missense c.1919 p.Q640R 1.000 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors LOC727820 727820 genome.wustl.edu 36 1 142535587 142535587 + RNA SNP G G C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 1 142535587 142535587 G C SNP LOC727820 XR_041980 human genbank 54_36p -1 model rna NULL NULL 0.002 - - - no_errors CNGA2 1260 genome.wustl.edu 36 X 150663505 150663505 + Missense_Mutation SNP C C A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d X 150663505 150663505 C A SNP CNGA2 NM_005140 human genbank 54_36p +1 validated missense c.1874 p.A625D 1.000 NULL superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2 - no_errors PLCH1 23007 genome.wustl.edu 36 3 156754637 156754637 + Missense_Mutation SNP T T C novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 3 156754637 156754637 T C SNP PLCH1 NM_014996 human genbank 54_36p -1 validated missense c.1022 p.H341R 1.000 HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors F5 2153 genome.wustl.edu 36 1 167778425 167778425 + Missense_Mutation SNP C C A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 1 167778425 167778425 C A SNP F5 NM_000130 human genbank 54_36p -1 reviewed missense c.2527 p.D843Y 0.001 NULL superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_LSPR,superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2 - no_errors THBS2 7058 genome.wustl.edu 36 6 169367349 169367349 + Silent SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 6 169367349 169367349 G A SNP THBS2 NM_003247 human genbank 54_36p -1 reviewed silent c.2589 p.D863 1.000 superfamily_SSF103647,HMMPfam_TSP_3 PatternScan_EGF_1,HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF_CA,HMMPfam_EGF,PatternScan_EGF_2,superfamily_SSF103647,HMMPfam_TSP_3,HMMPfam_TSP_C - no_errors TNR 7143 genome.wustl.edu 36 1 173559131 173559131 + Missense_Mutation SNP C C G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 1 173559131 173559131 C G SNP TNR NM_003285 human genbank 54_36p -1 validated missense c.4062 p.Q1354H 1.000 NULL PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00181,HMMPfam_EGF_2,superfamily_EGF/Laminin,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,superfamily_Fibrinogen C-terminal domain-like - no_errors NMNAT2 23057 genome.wustl.edu 36 1 181520504 181520504 + Missense_Mutation SNP A A G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 1 181520504 181520504 A G SNP NMNAT2 NM_015039 human genbank 54_36p -1 reviewed missense c.493 p.C165R 1.000 superfamily_Nucleotidylyl transferase,HMMPfam_CTP_transf_2 superfamily_Nucleotidylyl transferase,HMMPfam_CTP_transf_2 - no_errors TROVE2 6738 genome.wustl.edu 36 1 191305253 191305253 + Missense_Mutation SNP G G A novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 1 191305253 191305253 G A SNP TROVE2 NM_004600 human genbank 54_36p +1 validated missense c.446 p.R149Q 1.000 HMMPfam_TROVE HMMPfam_TROVE - no_errors IPO9 55705 genome.wustl.edu 36 1 200108661 200108661 + Nonsense_Mutation SNP G G T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 1 200108661 200108661 G T SNP IPO9 NM_018085 human genbank 54_36p +1 validated nonsense c.2659 p.E887* 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_IBN_N - no_errors ATIC 471 genome.wustl.edu 36 2 215909029 215909029 + Silent SNP A A G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 2 215909029 215909029 A G SNP ATIC NM_004044 human genbank 54_36p +1 validated silent c.1035 p.G345 0.953 HMMPfam_AICARFT_IMPCHas,HMMSmart_AICARFT_IMPCHas,superfamily_AICARFT_IMPCHas_formly superfamily_SSF52335,HMMPfam_MGS,HMMPfam_AICARFT_IMPCHas,HMMSmart_AICARFT_IMPCHas,superfamily_AICARFT_IMPCHas_formly - no_errors IRF2BP2 359948 genome.wustl.edu 36 1 232810028 232810028 + Silent SNP C C T novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 1 232810028 232810028 C T SNP IRF2BP2 NM_182972 human genbank 54_36p -1 reviewed silent c.1242 p.P414 1.000 NULL NULL - no_errors C1orf101 257044 genome.wustl.edu 36 1 242813807 242813807 + Silent SNP T T G novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 1 242813807 242813807 T G SNP C1orf101 NM_173807 human genbank 54_36p +1 validated silent c.2028 p.L676 0.000 NULL NULL - no_errors CLEC12B 387837 genome.wustl.edu 36 12 10059576 10059592 + Frame_Shift_Del DEL TGTTCCCTCTCCATCCT TGTTCCCTCTCCATCCT - novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 TGTTCCCTCTCCATCCT TGTTCCCTCTCCATCCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 12 10059576 10059592 TGTTCCCTCTCCATCCT - DEL CLEC12B NM_205852 human genbank 54_36p +1 validated frame_shift_del c.663_679 p.P223fs 0.006:0.000:0.003:0.015:0.638:0.697:0.763:0.881:0.931:0.933:0.913:0.851:0.670:0.661:0.663:0.701:0.712 superfamily_C-type_lectin_fold,HMMSmart_CLECT superfamily_C-type_lectin_fold,HMMSmart_CLECT,HMMPfam_Lectin_C (deletion:cds_exon[10059478,10059612]) no_errors SNORD49A 26800 genome.wustl.edu 36 17 16284088 16284091 + RNA DEL TCAC TCAC - novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 TCAC TCAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 17 16284088 16284091 TCAC - DEL SNORD49A NR_002744 human genbank 54_36p +1 provisional rna NULL NULL 0.002:0.002:0.002:0.005 - - (deletion:rna[16284075,16284145]) no_errors GTF3C1 2975 genome.wustl.edu 36 16 27395337 27395352 + Frame_Shift_Del DEL TGAAGCACCAGAAAGT TGAAGCACCAGAAAGT - novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 TGAAGCACCAGAAAGT TGAAGCACCAGAAAGT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 16 27395337 27395352 TGAAGCACCAGAAAGT - DEL GTF3C1 NM_001520 human genbank 54_36p -1 validated frame_shift_del c.4289_4274 p.H1425fs 0.998:0.919:0.873:0.995:0.996:0.995:1.000:1.000:1.000:1.000:0.998:0.983:0.992:0.996:0.999:1.000 NULL HMMPfam_B-block_TFIIIC (deletion:cds_exon[27395273,27395366]) no_errors LOC441964 441964 genome.wustl.edu 36 21 38541315 38541318 + Frame_Shift_Del DEL TGGA TGGA - novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 TGGA TGGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 21 38541315 38541318 TGGA - DEL LOC441964 XM_497783 human genbank 54_36p -1 model frame_shift_del c.676_673 p.S225fs 0.001:0.001:0.001:0.001 NULL NULL (deletion:cds_exon[38540755,38541438]) no_errors PCTK2 5128 genome.wustl.edu 36 12 95212993 95213005 + Frame_Shift_Del DEL GCAATATGCCAAA GCAATATGCCAAA - novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 GCAATATGCCAAA GCAATATGCCAAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 12 95212993 95213005 GCAATATGCCAAA - DEL PCTK2 NM_002595 human genbank 54_36p -1 reviewed frame_shift_del c.912_900 p.L301fs 1.000:1.000:1.000:1.000:1.000:1.000:0.990:1.000:1.000:1.000:1.000:1.000:0.999 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 (deletion:cds_exon[95212908,95213031]) no_errors LOC375010 375010 genome.wustl.edu 36 1 141655113 141655113 + RNA DEL C C - novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 1 141655113 141655113 C - DEL LOC375010 XR_041271 human genbank 54_36p -1 model rna NULL NULL 0.085 - - (deletion:rna[141654484,141655403]) pseudogene OSTalpha 200931 genome.wustl.edu 36 3 197438955 197438977 + Frame_Shift_Del DEL TGGTCTCTGGATCCCTCGTTCCC TGGTCTCTGGATCCCTCGTTCCC - novel unknown TCGA-61-1914-01A-01W-0639-09 TCGA-61-1914-11A-01W-0640-09 TGGTCTCTGGATCCCTCGTTCCC TGGTCTCTGGATCCCTCGTTCCC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 41e59680-da3c-45d9-8a36-59596743d03a 75201ee4-2590-4b96-8bcf-e9e82aa0457d 3 197438955 197438977 TGGTCTCTGGATCCCTCGTTCCC - DEL OSTalpha NM_152672 human genbank 54_36p +1 validated frame_shift_del c.312_334 p.L106fs 1.000:1.000:1.000:0.990:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.995:0.996:0.989:0.868:0.872:0.860:0.515:0.599:0.884:0.900:0.882 NULL NULL (deletion:cds_exon[197438932,197439005]) no_errors