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 LOC730993 730993 genome.wustl.edu 36 11 3528477 3528477 + RNA SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 11 3528477 3528477 C T SNP LOC730993 XR_038262 human genbank 54_36p -1 model rna NULL NULL 0.574 - - - pseudogene UHRF1 29128 genome.wustl.edu 36 19 4895464 4895464 + Splice_Site SNP T T C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 19 4895464 4895464 T C SNP UHRF1 ENST00000398240 human ensembl 54_36p +1 known splice_site c.1344+2 e8+2 1.000 - - - no_errors TP53 7157 genome.wustl.edu 36 17 7519015 7519015 + Splice_Site SNP C T T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 17 7519015 7519015 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.560-1 e5-1 0.383 - - - no_errors DENND5A 23258 genome.wustl.edu 36 11 9128810 9128810 + Missense_Mutation SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 11 9128810 9128810 C G SNP DENND5A NM_015213 human genbank 54_36p -1 validated missense c.2599 p.D867H 1.000 HMMPfam_RUN HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_RUN,HMMSmart_SM00593,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT - no_errors COL5A3 50509 genome.wustl.edu 36 19 9977535 9977535 + Missense_Mutation SNP G G A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 19 9977535 9977535 G A SNP COL5A3 NM_015719 human genbank 54_36p -1 reviewed missense c.374 p.A125V 0.932 HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI - no_errors CLNK 116449 genome.wustl.edu 36 4 10151257 10151257 + Missense_Mutation SNP T T A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 4 10151257 10151257 T A SNP CLNK NM_052964 human genbank 54_36p -1 validated missense c.561 p.L187F 0.000 NULL superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2 - no_errors ZNF625 90589 genome.wustl.edu 36 19 12117311 12117311 + Missense_Mutation SNP T T G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 19 12117311 12117311 T G SNP ZNF625 NM_145233 human genbank 54_36p -1 provisional missense c.722 p.Q241P 0.011 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 GRIN2B 2904 genome.wustl.edu 36 12 13719977 13719977 + Missense_Mutation SNP A A C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 12 13719977 13719977 A C SNP GRIN2B NM_000834 human genbank 54_36p -1 reviewed missense c.1094 p.I365S 1.000 superfamily_SSF53822 superfamily_SSF53822,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan,HMMPfam_NMDAR2_C - no_errors LOC642311 642311 genome.wustl.edu 36 15 18623392 18623392 + RNA SNP A A T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 15 18623392 18623392 A T SNP LOC642311 XR_017705 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene LOC440225 440225 genome.wustl.edu 36 15 19402292 19402292 + RNA SNP T T C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 15 19402292 19402292 T C SNP LOC440225 XR_042334 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene OR4K1 79544 genome.wustl.edu 36 14 19474516 19474516 + Missense_Mutation SNP C C A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 14 19474516 19474516 C A SNP OR4K1 NM_001004063 human genbank 54_36p +1 provisional missense c.851 p.P284H 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors CDH18 1016 genome.wustl.edu 36 5 19509195 19509195 + Missense_Mutation SNP G G A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 5 19509195 19509195 G A SNP CDH18 NM_004934 human genbank 54_36p -1 reviewed missense c.2270 p.T757M 0.068 HMMPfam_Cadherin_C superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors NAV2 89797 genome.wustl.edu 36 11 20014109 20014109 + Missense_Mutation SNP G G A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 11 20014109 20014109 G A SNP NAV2 NM_182964 human genbank 54_36p +1 validated missense c.2866 p.G956S 1.000 NULL superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00033,HMMPfam_CH,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382 - no_errors ZNF493 284443 genome.wustl.edu 36 19 21399588 21399588 + Missense_Mutation SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 19 21399588 21399588 C G SNP ZNF493 NM_001076678 human genbank 54_36p +1 validated missense c.2287 p.H763D 0.044 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors IGLV4-3 0 genome.wustl.edu 36 22 21544134 21544134 + Silent SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 22 21544134 21544134 C T SNP IGLV4-3 ENST00000390318 human ensembl 54_36p +1 known silent c.291 p.T97 0.109 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406 - no_stop_codon CCDC149 91050 genome.wustl.edu 36 4 24442356 24442356 + Missense_Mutation SNP A A T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 4 24442356 24442356 A T SNP CCDC149 NM_173463 human genbank 54_36p -1 validated missense c.670 p.S224T 0.997 HMMPfam_DUF2353 HMMPfam_DUF2353 - no_errors IL21R 50615 genome.wustl.edu 36 16 27361798 27361798 + Missense_Mutation SNP C C A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 16 27361798 27361798 C A SNP IL21R NM_021798 human genbank 54_36p +1 reviewed missense c.367 p.P123T 1.000 superfamily_Fibronectin type III superfamily_Fibronectin type III,PatternScan_HEMATOPO_REC_S_F1 - no_errors MEP1B 4225 genome.wustl.edu 36 18 28051728 28051728 + Missense_Mutation SNP G G T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 18 28051728 28051728 G T SNP MEP1B NM_005925 human genbank 54_36p +1 validated missense c.1893 p.Q631H 0.003 NULL "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin,HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_TRAF domain-like,HMMSmart_SM00061,HMMPfam_MATH" - no_errors AMAC1 146861 genome.wustl.edu 36 17 30544968 30544968 + Missense_Mutation SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 17 30544968 30544968 C T SNP AMAC1 NM_152462 human genbank 54_36p -1 provisional missense c.472 p.D158N 0.993 HMMPfam_DUF6,superfamily_Multidrug resistance efflux transporter EmrE HMMPfam_DUF6,superfamily_Multidrug resistance efflux transporter EmrE - no_errors EIF6 3692 genome.wustl.edu 36 20 33331326 33331326 + Missense_Mutation SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 20 33331326 33331326 C G SNP EIF6 NM_002212 human genbank 54_36p -1 reviewed missense c.379 p.E127Q 1.000 superfamily_Pentein,HMMPfam_eIF-6,HMMSmart_SM00654 superfamily_Pentein,HMMPfam_eIF-6,HMMSmart_SM00654 - no_errors LOC646766 646766 genome.wustl.edu 36 6 34339284 34339284 + RNA SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 6 34339284 34339284 C T SNP LOC646766 XR_017605 human genbank 54_36p -1 model rna NULL NULL 0.995 - - - pseudogene ZNF536 9745 genome.wustl.edu 36 19 35628218 35628218 + Missense_Mutation SNP G G A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 19 35628218 35628218 G A SNP ZNF536 NM_014717 human genbank 54_36p +1 provisional missense c.1909 p.G637S 1.000 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors UNC5D 137970 genome.wustl.edu 36 8 35725739 35725739 + Missense_Mutation SNP A A G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 8 35725739 35725739 A G SNP UNC5D NM_080872 human genbank 54_36p +1 validated missense c.1904 p.Q635R 1.000 HMMPfam_ZU5 superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,PatternScan_SERPIN,HMMPfam_ZU5,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death - no_errors SIM2 6493 genome.wustl.edu 36 21 37020338 37020338 + Missense_Mutation SNP A A T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 21 37020338 37020338 A T SNP SIM2 NM_005069 human genbank 54_36p +1 reviewed missense c.592 p.M198L 1.000 NULL HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_PAS,HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_PAS_3,HMMSmart_SM00086,HMMPfam_SIM_C - no_errors TRPC4 7223 genome.wustl.edu 36 13 37123539 37123539 + Nonsense_Mutation SNP C C A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 13 37123539 37123539 C A SNP TRPC4 NM_016179 human genbank 54_36p -1 validated nonsense c.1942 p.E648* 1.000 NULL superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,HMMPfam_TRP_2,HMMPfam_Ion_trans,PatternScan_RIBOSOMAL_S2_1 - no_errors MCART1 92014 genome.wustl.edu 36 9 37878029 37878029 + Silent SNP A A G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 9 37878029 37878029 A G SNP MCART1 NM_033412 human genbank 54_36p -1 validated silent c.519 p.Y173 1.000 superfamily_Mitoch_carrier,HMMPfam_Mito_carr superfamily_Mitoch_carrier,HMMPfam_Mito_carr - no_errors MACF1 23499 genome.wustl.edu 36 1 39523590 39523590 + Missense_Mutation SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 39523590 39523590 C G SNP MACF1 NM_012090 human genbank 54_36p +1 reviewed missense c.1309 p.Q437E 1.000 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_SM00243 - no_errors LOC388907 388907 genome.wustl.edu 36 22 41502920 41502920 + RNA SNP A A T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 22 41502920 41502920 A T SNP LOC388907 XR_017615 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene ATP8A1 10396 genome.wustl.edu 36 4 42271449 42271449 + Silent SNP A A C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 4 42271449 42271449 A C SNP ATP8A1 NM_006095 human genbank 54_36p -1 reviewed silent c.1239 p.T413 0.834 superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2 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 - no_errors CUL9 23113 genome.wustl.edu 36 6 43275717 43275717 + Missense_Mutation SNP T T G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 6 43275717 43275717 T G SNP CUL9 NM_015089 human genbank 54_36p +1 validated missense c.3229 p.C1077G 1.000 superfamily_ARM repeat "superfamily_ARM repeat,superfamily_Galactose-binding domain-like,HMMPfam_APC10,PatternScan_CYTOCHROME_P450,HMMPfam_Cullin,superfamily_Cullin homology domain,superfamily_""Winged helix"" DNA-binding domain,PatternScan_CULLIN_1,superfamily_RING/U-box,HMMPfam_IBR,HMMSmart_SM00647,PatternScan_ZF_RING_1" - no_errors TESK2 10420 genome.wustl.edu 36 1 45696041 45696041 + Missense_Mutation SNP C C A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 45696041 45696041 C A SNP TESK2 NM_007170 human genbank 54_36p -1 reviewed missense c.4 p.D2Y 1.000 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors TMEM69 51249 genome.wustl.edu 36 1 45931868 45931868 + Missense_Mutation SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 45931868 45931868 C T SNP TMEM69 NM_016486 human genbank 54_36p +1 validated missense c.448 p.P150S 1.000 NULL NULL - no_errors FYCO1 79443 genome.wustl.edu 36 3 45978826 45978826 + Missense_Mutation SNP T T C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 3 45978826 45978826 T C SNP FYCO1 NM_024513 human genbank 54_36p -1 validated missense c.3332 p.Q1111R 0.991 NULL superfamily_Prefoldin,superfamily_tRNA-binding arm,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger,superfamily_Supernatant protein factor (SPF) C-terminal domain - no_errors MBD1 4152 genome.wustl.edu 36 18 46057283 46057283 + Silent SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 18 46057283 46057283 C T SNP MBD1 NM_015846 human genbank 54_36p -1 reviewed silent c.309 p.Q103 0.000 NULL HMMPfam_MBD,superfamily_DNA-binding domain,HMMSmart_SM00391,HMMPfam_zf-CXXC - no_errors ENSG00000209709 0 genome.wustl.edu 36 11 46758180 46758180 + RNA SNP A A G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 11 46758180 46758180 A G SNP ENSG00000209709 ENST00000386974 human ensembl 54_36p -1 novel rna NULL NULL 0.998 - - - pseudogene NUP160 23279 genome.wustl.edu 36 11 47771018 47771018 + Silent SNP G G T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 11 47771018 47771018 G T SNP NUP160 NM_015231 human genbank 54_36p -1 validated silent c.3346 p.R1116 0.997 NULL PatternScan_HIS_ACID_PHOSPHAT_1 - no_errors TUBA1B 10376 genome.wustl.edu 36 12 47809549 47809549 + Splice_Site SNP C C A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 12 47809549 47809549 C A SNP TUBA1B NM_006082 human genbank 54_36p -1 validated splice_site c.226+1 e2+1 1.000 - - - no_errors TRPM7 54822 genome.wustl.edu 36 15 48722958 48722958 + Missense_Mutation SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 15 48722958 48722958 C G SNP TRPM7 NM_017672 human genbank 54_36p -1 validated missense c.406 p.V136L 1.000 NULL HMMPfam_Ion_trans,superfamily_Kinase_like,HMMSmart_Alpha_kinase,HMMPfam_Alpha_kinase - no_errors LOC220429 220429 genome.wustl.edu 36 13 49363306 49363306 + RNA SNP C C A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 13 49363306 49363306 C A SNP LOC220429 NR_003268 human genbank 54_36p +1 validated rna NULL NULL 0.006 - - - pseudogene KRT2 3849 genome.wustl.edu 36 12 51331672 51331672 + Silent SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 12 51331672 51331672 C T SNP KRT2 NM_000423 human genbank 54_36p -1 reviewed silent c.522 p.V174 0.331 NULL HMMPfam_Filament,PatternScan_IF - no_errors LOC400036 400036 genome.wustl.edu 36 12 51411323 51411323 + RNA SNP A A T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 12 51411323 51411323 A T SNP LOC400036 XR_042304 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene KRT3 3850 genome.wustl.edu 36 12 51471745 51471745 + Missense_Mutation SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 12 51471745 51471745 C G SNP KRT3 NM_057088 human genbank 54_36p -1 reviewed missense c.1311 p.K437N 1.000 HMMPfam_Filament HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF - no_errors FAM21A 387680 genome.wustl.edu 36 10 51562663 51562663 + Silent SNP G G A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 10 51562663 51562663 G A SNP FAM21A NM_001005751 human genbank 54_36p +1 validated silent c.3978 p.K1326 0.987 NULL NULL - no_errors ZCCHC11 23318 genome.wustl.edu 36 1 52764088 52764088 + Silent SNP T T C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 52764088 52764088 T C SNP ZCCHC11 NM_001009881 human genbank 54_36p -1 validated silent c.453 p.E151 0.967 NULL PatternScan_ZINC_FINGER_C2H2_1,superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc,superfamily_Retrovirus zinc finger-like domains,HMMPfam_zf-CCHC,HMMSmart_SM00343,HMMPfam_NTP_transf_2 - no_errors NEDD4 4734 genome.wustl.edu 36 15 53996047 53996047 + Missense_Mutation SNP T T G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 15 53996047 53996047 T G SNP NEDD4 NM_198400 human genbank 54_36p -1 validated missense c.275 p.Q92P 1.000 NULL superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT - no_errors PFKFB1 5207 genome.wustl.edu 36 X 54976981 54976981 + Missense_Mutation SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d X 54976981 54976981 C G SNP PFKFB1 NM_002625 human genbank 54_36p -1 reviewed missense c.1354 p.E452Q 0.841 superfamily_SSF53254 HMMPfam_6PF2K,superfamily_SSF52540,HMMPfam_PGAM,superfamily_SSF53254,PatternScan_PG_MUTASE - no_errors TIMELESS 8914 genome.wustl.edu 36 12 55110951 55110951 + Missense_Mutation SNP A A C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 12 55110951 55110951 A C SNP TIMELESS NM_003920 human genbank 54_36p -1 validated missense c.890 p.F297C 1.000 NULL HMMPfam_TIMELESS,HMMPfam_TIMELESS_C - no_errors OR4C11 219429 genome.wustl.edu 36 11 55127996 55127996 + Missense_Mutation SNP C C A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 11 55127996 55127996 C A SNP OR4C11 NM_001004700 human genbank 54_36p -1 provisional missense c.430 p.V144F 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors TCF12 6938 genome.wustl.edu 36 15 55332904 55332904 + Silent SNP C C A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 15 55332904 55332904 C A SNP TCF12 NM_207036 human genbank 54_36p +1 reviewed silent c.1413 p.L471 1.000 NULL superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH - no_errors KIAA1211 57482 genome.wustl.edu 36 4 56888622 56888622 + Silent SNP G G A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 4 56888622 56888622 G A SNP KIAA1211 NM_020722 human genbank 54_36p +1 validated silent c.3597 p.R1199 0.999 NULL NULL - no_errors TUBB1 81027 genome.wustl.edu 36 20 57033026 57033026 + Missense_Mutation SNP G G T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 20 57033026 57033026 G T SNP TUBB1 NM_030773 human genbank 54_36p +1 validated missense c.1149 p.E383D 1.000 superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C PatternScan_TUBULIN_B_AUTOREG,superfamily_Tubulin_FtsZ,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tub_FtsZ_C,HMMPfam_Tubulin_C - no_errors EDN3 1908 genome.wustl.edu 36 20 57329482 57329482 + Silent SNP T T C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 20 57329482 57329482 T C SNP EDN3 NM_000114 human genbank 54_36p +1 reviewed silent c.381 p.Y127 1.000 NULL HMMPfam_Endothelin,HMMSmart_SM00272,PatternScan_ENDOTHELIN - no_errors OR1S2 219958 genome.wustl.edu 36 11 57727340 57727340 + Missense_Mutation SNP A A C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 11 57727340 57727340 A C SNP OR1S2 NM_001004459 human genbank 54_36p -1 provisional missense c.890 p.M297R 0.271 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors KIR3DL1 3811 genome.wustl.edu 36 19 60023121 60023121 + Missense_Mutation SNP G G A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 19 60023121 60023121 G A SNP KIR3DL1 NM_013289 human genbank 54_36p +1 reviewed missense c.497 p.R166H 0.000 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig - no_errors LOC729209 729209 genome.wustl.edu 36 2 62227389 62227389 + RNA SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 2 62227389 62227389 C G SNP LOC729209 XR_015929 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene WDR89 112840 genome.wustl.edu 36 14 63135378 63135378 + Silent SNP A A G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 14 63135378 63135378 A G SNP WDR89 NM_001008726 human genbank 54_36p -1 validated silent c.1036 p.L346 0.993 superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 - no_errors SYNE2 23224 genome.wustl.edu 36 14 63695190 63695190 + Missense_Mutation SNP T T G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 14 63695190 63695190 T G SNP SYNE2 NM_182914 human genbank 54_36p +1 validated missense c.15887 p.F5296C 0.986 HMMSmart_SPEC superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH - no_errors PIK3R1 5295 genome.wustl.edu 36 5 67629161 67629161 + Silent SNP A A C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 5 67629161 67629161 A C SNP PIK3R1 NM_181523 human genbank 54_36p +1 reviewed silent c.2151 p.P717 0.748 superfamily_SH2 domain superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2 - no_errors CPA6 57094 genome.wustl.edu 36 8 68581614 68581614 + Missense_Mutation SNP A A T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 8 68581614 68581614 A T SNP CPA6 NM_020361 human genbank 54_36p -1 validated missense c.598 p.W200R 1.000 superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14 superfamily_Protease propeptides/inhibitors,HMMPfam_Propep_M14,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_2 - no_errors LMOD3 56203 genome.wustl.edu 36 3 69254116 69254116 + Missense_Mutation SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 3 69254116 69254116 C G SNP LMOD3 NM_198271 human genbank 54_36p -1 validated missense c.112 p.E38Q 0.986 NULL HMMPfam_Tropomodulin,superfamily_RNI-like,HMMPfam_WH2 - no_errors FGF4 2249 genome.wustl.edu 36 11 69297269 69297269 + Missense_Mutation SNP G G T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 11 69297269 69297269 G T SNP FGF4 NM_002007 human genbank 54_36p -1 reviewed missense c.610 p.P204T 1.000 superfamily_Cytok_IL1_like,HMMSmart_FGF superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF,PatternScan_HBGF_FGF - no_errors HYDIN 54768 genome.wustl.edu 36 16 69579802 69579802 + Missense_Mutation SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 16 69579802 69579802 C G SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.3976 p.E1326Q 1.000 NULL superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors TRHDE 29953 genome.wustl.edu 36 12 70966759 70966759 + Missense_Mutation SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 12 70966759 70966759 C T SNP TRHDE NM_013381 human genbank 54_36p +1 reviewed missense c.811 p.H271Y 1.000 superfamily_SSF63737,HMMPfam_Peptidase_M1 superfamily_SSF63737,HMMPfam_Peptidase_M1,superfamily_SSF55486,PatternScan_ZINC_PROTEASE - no_errors TSHZ1 10194 genome.wustl.edu 36 18 71128911 71128911 + Missense_Mutation SNP A A G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 18 71128911 71128911 A G SNP TSHZ1 NM_005786 human genbank 54_36p +1 reviewed missense c.2426 p.K809R 1.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00389,HMMPfam_Homeobox - no_errors TNNI3K 51086 genome.wustl.edu 36 1 74778548 74778548 + Missense_Mutation SNP G G T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 74778548 74778548 G T SNP TNNI3K NM_015978 human genbank 54_36p +1 validated missense c.2394 p.M798I 0.932 NULL superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,PatternScan_PROTEIN_KINASE_ATP - no_errors ZFHX4 79776 genome.wustl.edu 36 8 77928149 77928149 + Missense_Mutation SNP C A A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 8 77928149 77928149 C A SNP ZFHX4 NM_024721 human genbank 54_36p +1 validated missense c.6302 p.A2101D 0.998 superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox 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 SLC28A1 9154 genome.wustl.edu 36 15 83239291 83239291 + Silent SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 15 83239291 83239291 C T SNP SLC28A1 NM_004213 human genbank 54_36p +1 validated silent c.394 p.L132 0.081 NULL HMMPfam_Nucleos_tra2_N,HMMPfam_Gate,HMMPfam_Nucleos_tra2_C - no_errors FLJ46321 389763 genome.wustl.edu 36 9 83795632 83795632 + Silent SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 9 83795632 83795632 C T SNP FLJ46321 NM_001001670 human genbank 54_36p +1 validated silent c.427 p.L143 0.000 NULL NULL - no_errors LRRIQ1 84125 genome.wustl.edu 36 12 84162710 84162710 + Missense_Mutation SNP A A G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 12 84162710 84162710 A G SNP LRRIQ1 NM_001079910 human genbank 54_36p +1 validated missense c.5029 p.S1677G 1.000 NULL superfamily_RNI-like,HMMSmart_SM00015,HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors SH2D6 284948 genome.wustl.edu 36 2 85516079 85516079 + Silent SNP G G A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 2 85516079 85516079 G A SNP SH2D6 NM_198482 human genbank 54_36p +1 provisional silent c.201 p.S67 0.032 superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2 superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2 - no_errors LOC392242 392242 genome.wustl.edu 36 8 86743745 86743745 + RNA SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 8 86743745 86743745 C T SNP LOC392242 XR_041124 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - pseudogene GJA10 84694 genome.wustl.edu 36 6 90661142 90661142 + Missense_Mutation SNP G G C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 6 90661142 90661142 G C SNP GJA10 NM_032602 human genbank 54_36p +1 validated missense c.234 p.W78C 1.000 HMMPfam_Connexin HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2 - no_errors METAP2 10988 genome.wustl.edu 36 12 94431797 94431797 + Missense_Mutation SNP G G C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 12 94431797 94431797 G C SNP METAP2 NM_006838 human genbank 54_36p +1 reviewed missense c.1423 p.G475R 1.000 superfamily_Creatinase/aminopeptidase "superfamily_Creatinase/aminopeptidase,HMMPfam_Peptidase_M24,PatternScan_MAP_2,superfamily_""Winged helix"" DNA-binding domain" - no_errors PON3 5446 genome.wustl.edu 36 7 94827239 94827239 + Silent SNP A A G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 7 94827239 94827239 A G SNP PON3 NM_000940 human genbank 54_36p -1 reviewed silent c.1047 p.T349 0.985 superfamily_Calcium-dependent phosphotriesterase superfamily_Calcium-dependent phosphotriesterase,HMMPfam_Arylesterase - no_errors DYNC1I1 1780 genome.wustl.edu 36 7 95564767 95564767 + Missense_Mutation SNP G G T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 7 95564767 95564767 G T SNP DYNC1I1 NM_004411 human genbank 54_36p +1 validated missense c.1864 p.A622S 1.000 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors TMTC4 84899 genome.wustl.edu 36 13 100062689 100062689 + Silent SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 13 100062689 100062689 C G SNP TMTC4 NM_032813 human genbank 54_36p -1 validated silent c.2028 p.S676 0.026 superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028 HMMPfam_DUF1736,superfamily_TPR-like,HMMPfam_TPR_2,HMMSmart_SM00028,HMMPfam_TPR_1 - no_errors AKT1 207 genome.wustl.edu 36 14 104313103 104313103 + Silent SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 14 104313103 104313103 C T SNP AKT1 NM_001014431 human genbank 54_36p -1 reviewed silent c.366 p.S122 0.087 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C - no_errors LOC642741 642741 genome.wustl.edu 36 6 108432524 108432524 + RNA SNP G G C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 6 108432524 108432524 G C SNP LOC642741 XR_016455 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene PAPSS1 9061 genome.wustl.edu 36 4 108827778 108827778 + Missense_Mutation SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 4 108827778 108827778 C T SNP PAPSS1 NM_005443 human genbank 54_36p -1 validated missense c.416 p.R139H 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_APS_kinase superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_APS_kinase,superfamily_PUA domain-like,HMMPfam_ATP-sulfurylase,superfamily_Nucleotidylyl transferase - no_errors DOCK4 9732 genome.wustl.edu 36 7 111362915 111362915 + Missense_Mutation SNP T T C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 7 111362915 111362915 T C SNP DOCK4 NM_014705 human genbank 54_36p -1 reviewed missense c.982 p.N328D 1.000 NULL superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2 - no_errors APC 324 genome.wustl.edu 36 5 112201974 112201974 + Silent SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 5 112201974 112201974 C G SNP APC NM_000038 human genbank 54_36p +1 reviewed silent c.2784 p.A928 0.995 NULL superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm,HMMPfam_APC_15aa,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_APC_basic,HMMPfam_EB1_binding - no_errors LPAR1 1902 genome.wustl.edu 36 9 112677673 112677673 + Missense_Mutation SNP T T C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 9 112677673 112677673 T C SNP LPAR1 NM_001401 human genbank 54_36p -1 reviewed missense c.944 p.D315G 1.000 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors TRIM33 51592 genome.wustl.edu 36 1 114749859 114749859 + Missense_Mutation SNP G G C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 114749859 114749859 G C SNP TRIM33 NM_015906 human genbank 54_36p -1 reviewed missense c.2464 p.L822V 1.000 NULL superfamily_RING/U-box,HMMSmart_SM00249,HMMSmart_SM00184,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00502,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain - no_errors GDAP2 54834 genome.wustl.edu 36 1 118250672 118250672 + Silent SNP A A G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 118250672 118250672 A G SNP GDAP2 NM_017686 human genbank 54_36p -1 validated silent c.615 p.F205 1.000 superfamily_Macro domain-like superfamily_Macro domain-like,HMMSmart_SM00506,HMMPfam_Macro,superfamily_CRAL/TRIO domain,HMMSmart_SM00516 - no_errors CLIP1 6249 genome.wustl.edu 36 12 121391277 121391277 + Silent SNP A A G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 12 121391277 121391277 A G SNP CLIP1 NM_002956 human genbank 54_36p -1 validated silent c.2394 p.I798 0.064 NULL superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1 - no_errors INPP5F 22876 genome.wustl.edu 36 10 121546252 121546252 + Missense_Mutation SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 10 121546252 121546252 C G SNP INPP5F NM_014937 human genbank 54_36p +1 reviewed missense c.705 p.I235M 1.000 HMMPfam_Syja_N HMMPfam_Syja_N - no_errors SND1 27044 genome.wustl.edu 36 7 127134868 127134868 + Silent SNP G G A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 7 127134868 127134868 G A SNP SND1 NM_014390 human genbank 54_36p +1 validated silent c.969 p.L323 1.000 superfamily_Staphylococal_nuclease_OB-fold,HMMSmart_SNc,HMMPfam_SNase PatternScan_TNASE_1,superfamily_Staphylococal_nuclease_OB-fold,HMMSmart_SNc,HMMPfam_SNase,PatternScan_TNASE_2,HMMPfam_TUDOR,HMMSmart_TUDOR - no_errors LRRC8A 56262 genome.wustl.edu 36 9 130710001 130710001 + Missense_Mutation SNP A A C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 9 130710001 130710001 A C SNP LRRC8A NM_019594 human genbank 54_36p +1 reviewed missense c.737 p.K246T 1.000 NULL superfamily_L domain-like,HMMSmart_SM00369,HMMSmart_SM00365,HMMPfam_LRR_1 - no_errors GPR39 2863 genome.wustl.edu 36 2 133119298 133119298 + Silent SNP G G A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 2 133119298 133119298 G A SNP GPR39 NM_001508 human genbank 54_36p +1 validated silent c.1011 p.S337 0.942 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 NAP5 344148 genome.wustl.edu 36 2 133259467 133259467 + Missense_Mutation SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 2 133259467 133259467 C T SNP NAP5 NM_207363 human genbank 54_36p -1 validated missense c.1387 p.E463K 0.000 NULL NULL - no_errors FAM135B 51059 genome.wustl.edu 36 8 139233040 139233040 + Missense_Mutation SNP G G T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 8 139233040 139233040 G T SNP FAM135B NM_015912 human genbank 54_36p -1 validated missense c.2860 p.Q954K 0.000 NULL superfamily_alpha/beta-Hydrolases,HMMPfam_DUF676 - no_errors COL22A1 169044 genome.wustl.edu 36 8 139678329 139678329 + Missense_Mutation SNP T T A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 8 139678329 139678329 T A SNP COL22A1 NM_152888 human genbank 54_36p -1 validated missense c.4432 p.T1478S 0.979 NULL superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen - no_errors PCDHB13 56123 genome.wustl.edu 36 5 140575757 140575757 + Silent SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 5 140575757 140575757 C T SNP PCDHB13 NM_018933 human genbank 54_36p +1 reviewed silent c.1878 p.T626 0.001 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors DIAPH1 1729 genome.wustl.edu 36 5 140936623 140936623 + Splice_Site SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 5 140936623 140936623 C G SNP DIAPH1 NM_005219 human genbank 54_36p -1 reviewed splice_site c.1281-1 e13-1 1.000 - - - no_errors DENND3 22898 genome.wustl.edu 36 8 142255937 142255937 + Silent SNP G G A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 8 142255937 142255937 G A SNP DENND3 NM_014957 human genbank 54_36p +1 validated silent c.2361 p.A787 0.004 NULL HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors IDS 3423 genome.wustl.edu 36 X 148376430 148376430 + Missense_Mutation SNP G C C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d X 148376430 148376430 G C SNP IDS NM_000202 human genbank 54_36p -1 reviewed missense c.1111 p.P371A 0.000 superfamily_Alkaline phosphatase-like HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2 - no_errors FLG 2312 genome.wustl.edu 36 1 150542241 150542241 + Silent SNP A A G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 150542241 150542241 A G SNP FLG NM_002016 human genbank 54_36p -1 provisional silent c.11745 p.S3915 0.007 NULL superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_Filaggrin - no_errors SLC36A2 153201 genome.wustl.edu 36 5 150695269 150695269 + Silent SNP G G A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 5 150695269 150695269 G A SNP SLC36A2 NM_181776 human genbank 54_36p -1 validated silent c.558 p.N186 0.983 HMMPfam_Aa_trans HMMPfam_Aa_trans - no_errors AIM2 9447 genome.wustl.edu 36 1 157304989 157304989 + Missense_Mutation SNP T T C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 157304989 157304989 T C SNP AIM2 NM_004833 human genbank 54_36p -1 reviewed missense c.389 p.H130R 0.001 NULL superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_HIN - no_errors GRIA2 2891 genome.wustl.edu 36 4 158476447 158476447 + Missense_Mutation SNP T T G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 4 158476447 158476447 T G SNP GRIA2 NM_000826 human genbank 54_36p +1 reviewed missense c.1441 p.W481G 1.000 superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors TULP4 56995 genome.wustl.edu 36 6 158820788 158820788 + Silent SNP C C A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 6 158820788 158820788 C A SNP TULP4 NM_020245 human genbank 54_36p +1 validated silent c.1044 p.I348 1.000 superfamily_WD40 repeat-like HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,superfamily_TNF-like,HMMPfam_SOCS_box,superfamily_Transcriptional factor tubby C-terminal domain,HMMPfam_Tub - no_errors SLC4A10 57282 genome.wustl.edu 36 2 162459580 162459580 + Missense_Mutation SNP A A T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 2 162459580 162459580 A T SNP SLC4A10 NM_022058 human genbank 54_36p +1 validated missense c.1250 p.Q417L 1.000 superfamily_Phoshotransferase/anion transport protein superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp,PatternScan_HTH_ARAC_FAMILY_1 - no_errors TLL1 7092 genome.wustl.edu 36 4 167155159 167155159 + Missense_Mutation SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 4 167155159 167155159 C G SNP TLL1 NM_012464 human genbank 54_36p +1 reviewed missense c.1039 p.P347A 1.000 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Astacin" "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMPfam_EGF_CA,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_EGF" - no_errors LRP2 4036 genome.wustl.edu 36 2 169768942 169768942 + Missense_Mutation SNP A A G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 2 169768942 169768942 A G SNP LRP2 NM_004525 human genbank 54_36p -1 validated missense c.7801 p.Y2601H 0.991 superfamily_SSF63825,HMMPfam_Ldl_recept_b,HMMSmart_LY superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMSmart_EGF,superfamily_Grow_fac_recept,PatternScan_EGF_2,superfamily_SSF63825,HMMSmart_LY,HMMPfam_Ldl_recept_b,superfamily_SSF57196,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1 - no_errors RAPGEF4 11069 genome.wustl.edu 36 2 173561202 173561202 + Missense_Mutation SNP T T A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 2 173561202 173561202 T A SNP RAPGEF4 NM_007023 human genbank 54_36p +1 validated missense c.1183 p.Y395N 1.000 superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding "superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMPfam_RA,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF" - no_errors TTN 7273 genome.wustl.edu 36 2 179182746 179182746 + Nonsense_Mutation SNP C C A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 2 179182746 179182746 C A SNP TTN ENST00000375038 human ensembl 54_36p -1 known nonsense c.39595 p.E13199* 0.998 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 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 179301750 179301750 + Missense_Mutation SNP T T C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 2 179301750 179301750 T C SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.15416 p.E5139G 1.000 superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,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 SRGAP2 23380 genome.wustl.edu 36 1 204676985 204676985 + Missense_Mutation SNP G G A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 204676985 204676985 G A SNP SRGAP2 NM_015326 human genbank 54_36p +1 validated missense c.1343 p.S448N 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LOC402116 402116 genome.wustl.edu 36 2 209753282 209753282 + RNA SNP G G T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 2 209753282 209753282 G T SNP LOC402116 XR_017081 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene GLB1L 79411 genome.wustl.edu 36 2 219813055 219813055 + Missense_Mutation SNP C C G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 2 219813055 219813055 C G SNP GLB1L NM_024506 human genbank 54_36p -1 provisional missense c.552 p.E184D 0.994 HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases HMMPfam_Glyco_hydro_35,superfamily_(Trans)glycosidases - no_errors CAPN9 10753 genome.wustl.edu 36 1 228989900 228989900 + Missense_Mutation SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 228989900 228989900 C T SNP CAPN9 NM_006615 human genbank 54_36p +1 reviewed missense c.1528 p.P510S 0.869 superfamily_EF-hand superfamily_Cysteine proteinases,HMMSmart_SM00230,HMMPfam_Peptidase_C2,PatternScan_THIOL_PROTEASE_CYS,HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III),superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors TARBP1 6894 genome.wustl.edu 36 1 232650896 232650896 + Silent SNP C C T novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 232650896 232650896 C T SNP TARBP1 NM_005646 human genbank 54_36p -1 reviewed silent c.1914 p.L638 0.604 NULL superfamily_ARM-type_fold,superfamily_SSF75217,HMMPfam_SpoU_methylase - no_errors HEATR1 55127 genome.wustl.edu 36 1 234788396 234788396 + Missense_Mutation SNP T T A novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 234788396 234788396 T A SNP HEATR1 NM_018072 human genbank 54_36p -1 validated missense c.4968 p.K1656N 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,HMMPfam_HEAT,HMMPfam_BP28CT - no_errors OR2T2 401992 genome.wustl.edu 36 1 246683474 246683474 + Silent SNP T T G novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 246683474 246683474 T G SNP OR2T2 NM_001004136 human genbank 54_36p +1 provisional silent c.753 p.V251 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 PGBD2 267002 genome.wustl.edu 36 1 247178875 247178875 + Missense_Mutation SNP T T C novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 1 247178875 247178875 T C SNP PGBD2 NM_170725 human genbank 54_36p +1 validated missense c.1469 p.V490A 0.989 NULL NULL - no_errors DNAH9 1770 genome.wustl.edu 36 17 11678897 11678908 + In_Frame_Del DEL CAGCACTCACAG CAGCACTCACAG - novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 CAGCACTCACAG CAGCACTCACAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 17 11678897 11678908 CAGCACTCACAG - DEL DNAH9 NM_001372 human genbank 54_36p +1 reviewed in_frame_del c.9464_9475 p.LTAA3157in_frame_del 0.994:0.266:0.314:0.319:0.141:0.701:0.695:0.008:0.000:0.000:0.000:0.996 NULL HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2 (deletion:cds_exon[11678680,11678940]) no_errors NFKBIA 4792 genome.wustl.edu 36 14 34941731 34941742 + In_Frame_Del DEL AGCATTGACATC AGCATTGACATC - novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 AGCATTGACATC AGCATTGACATC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 14 34941731 34941742 AGCATTGACATC - DEL NFKBIA NM_020529 human genbank 54_36p -1 reviewed in_frame_del c.633_622 p.DVNA208in_frame_del 0.896:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank (deletion:cds_exon[34941728,34941816]) no_errors NFKBIA 4792 genome.wustl.edu 36 14 34942305 34942309 + Frame_Shift_Del DEL AGTGG AGTGG - novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 AGTGG AGTGG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 14 34942305 34942309 AGTGG - DEL NFKBIA NM_020529 human genbank 54_36p -1 reviewed frame_shift_del c.349_345 p.H116fs 1.000:1.000:1.000:1.000:0.938 HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat (deletion:cds_exon[34942107,34942317]) no_errors LOC100132440 0 genome.wustl.edu 36 16 51346196 51346197 + Frame_Shift_Ins INS - - ACAC novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 16 51346196 51346197 - ACAC INS LOC100132440 XM_001719251 human genbank 54_36p -1 model frame_shift_ins c.344_343 p.F115fs 0.000:0.000 NULL NULL - no_errors LOC644556 644556 genome.wustl.edu 36 4 63366409 63366413 + Frame_Shift_Del DEL AATGC AATGC - novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 AATGC AATGC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 4 63366409 63366413 AATGC - DEL LOC644556 XM_001719457 human genbank 54_36p +1 model frame_shift_del c.343_347 p.N115fs 1.000:1.000:0.997:1.000:1.000 HMMPfam_Sec10 HMMPfam_Sec10 (deletion:cds_exon[63366067,63367107]) no_errors BCL9L 283149 genome.wustl.edu 36 11 118277642 118277642 + Frame_Shift_Del DEL C C - novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 11 118277642 118277642 C - DEL BCL9L NM_182557 human genbank 54_36p -1 validated frame_shift_del c.2020 p.V674fs 0.249 NULL PatternScan_RIBOSOMAL_S6E (deletion:cds_exon[118276538,118278827]) no_errors PCDHB4 56131 genome.wustl.edu 36 5 140483148 140483161 + Frame_Shift_Del DEL AACAACAGCCCCGC AACAACAGCCCCGC - novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 AACAACAGCCCCGC AACAACAGCCCCGC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 5 140483148 140483161 AACAACAGCCCCGC - DEL PCDHB4 NM_018938 human genbank 54_36p +1 reviewed frame_shift_del c.1384_1397 p.N462fs 1.000:1.000:1.000:1.000:1.000:0.975:0.941:0.939:0.944:0.969:0.978:0.956:0.967:0.407 superfamily_Cadherin,HMMPfam_Cadherin HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA (deletion:cds_exon[140481765,140484152]) no_errors ENSG00000197199 0 genome.wustl.edu 36 2 170314856 170314859 + Frame_Shift_Del DEL ATAC ATAC - novel unknown TCGA-30-1855-01A-01W-0639-09 TCGA-30-1855-10A-01W-0639-09 ATAC ATAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 746f60b1-46ab-4b56-a8ee-53e89525f0ce 96b69a67-1fbe-4113-8e34-bfaef2435c7d 2 170314856 170314859 ATAC - DEL ENSG00000197199 ENST00000355513 human ensembl 54_36p -1 known frame_shift_del c.70_67 p.V23fs 0.000:0.000:0.000:0.000 NULL NULL (deletion:cds_exon[170314803,170314925]) no_start_codon:no_stop_codon