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 PROKR2 128674 genome.wustl.edu 36 20 5230804 5230804 + Missense_Mutation SNP T T A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 20 5230804 5230804 T A SNP PROKR2 NM_144773 human genbank 54_36p -1 reviewed missense c.1037 p.K346M 1.000 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PPP2R2C 5522 genome.wustl.edu 36 4 6428462 6428462 + Silent SNP C C T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 4 6428462 6428462 C T SNP PPP2R2C NM_020416 human genbank 54_36p -1 reviewed silent c.432 p.T144 0.919 superfamily_WD40 repeat-like superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_PP2A_B_N,PatternScan_PR55_1,HMMPfam_PP2A_B_subs_rcg,PatternScan_PR55_2 - no_errors CAMTA1 23261 genome.wustl.edu 36 1 7073956 7073956 + Silent SNP T C C novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 1 7073956 7073956 T C SNP CAMTA1 NM_015215 human genbank 54_36p +1 validated silent c.240 p.I80 1.000 HMMPfam_CG-1 HMMPfam_CG-1,superfamily_E set domains,HMMPfam_TIG,superfamily_Ankyrin repeat,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IQ - no_errors VCX3B 425054 genome.wustl.edu 36 X 8394367 8394367 + Silent SNP C C T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 X 8394367 8394367 C T SNP VCX3B NM_001001888 human genbank 54_36p +1 reviewed silent c.594 p.S198 0.000 NULL NULL - no_errors DNAH9 1770 genome.wustl.edu 36 17 11776085 11776085 + Silent SNP G A A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 17 11776085 11776085 G A SNP DNAH9 NM_001372 human genbank 54_36p +1 reviewed silent c.12135 p.T4045 0.780 HMMPfam_Dynein_heavy 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 - no_errors REPS2 9185 genome.wustl.edu 36 X 16998008 16998008 + Missense_Mutation SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 X 16998008 16998008 C A SNP REPS2 NM_004726 human genbank 54_36p +1 reviewed missense c.1304 p.A435D 0.998 NULL superfamily_EF-hand,HMMSmart_SM00027,PatternScan_EF_HAND_1 - no_errors LOC729524 729524 genome.wustl.edu 36 13 18138500 18138500 + RNA SNP G A A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 13 18138500 18138500 G A SNP LOC729524 XR_015575 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene SATB1 6304 genome.wustl.edu 36 3 18366173 18366173 + Silent SNP C C T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 3 18366173 18366173 C T SNP SATB1 NM_002971 human genbank 54_36p -1 validated silent c.1785 p.Q595 0.918 NULL HMMPfam_CUT,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox - no_errors PIK3C2G 5288 genome.wustl.edu 36 12 18391023 18391023 + Missense_Mutation SNP A A C novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 12 18391023 18391023 A C SNP PIK3C2G ENST00000266497 human ensembl 54_36p +1 known missense c.1611 p.E537D 0.687 HMMPfam_PI3K_C2 superfamily_Ubiquitin-like,HMMPfam_PI3K_rbd,HMMPfam_PI3K_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_ARM repeat,HMMSmart_SM00145,HMMPfam_PI3Ka,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMSmart_SM00239,HMMPfam_C2 - no_errors RIMBP3 85376 genome.wustl.edu 36 22 18838524 18838524 + Silent SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 22 18838524 18838524 C A SNP RIMBP3 NM_015672 human genbank 54_36p -1 validated silent c.2778 p.L926 0.000 NULL PatternScan_ALDEHYDE_DEHYDR_CYS,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Fibronectin type III - no_errors TAS1R2 80834 genome.wustl.edu 36 1 19054056 19054056 + Silent SNP G A A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 1 19054056 19054056 G A SNP TAS1R2 NM_152232 human genbank 54_36p -1 validated silent c.495 p.S165 0.958 superfamily_SSF53822,HMMPfam_ANF_receptor PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_SSF53822,HMMPfam_ANF_receptor,HMMPfam_NCD3G,superfamily_SSF57586,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3 - no_errors KRT18P40 390904 genome.wustl.edu 36 19 20936013 20936013 + RNA SNP A A T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 19 20936013 20936013 A T SNP KRT18P40 XR_017288 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene LOC391019 391019 genome.wustl.edu 36 1 23444000 23444000 + RNA SNP G G T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 1 23444000 23444000 G T SNP LOC391019 XR_017506 human genbank 54_36p +1 model rna NULL NULL 0.985 - - - pseudogene ADAM7 8756 genome.wustl.edu 36 8 24402622 24402622 + Missense_Mutation SNP T G G novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 8 24402622 24402622 T G SNP ADAM7 NM_003817 human genbank 54_36p +1 validated missense c.1152 p.D384E 0.006 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR" - no_errors CAD 790 genome.wustl.edu 36 2 27302210 27302210 + Missense_Mutation SNP C C G novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 2 27302210 27302210 C G SNP CAD NM_004341 human genbank 54_36p +1 reviewed missense c.1754 p.T585S 1.000 HMMPfam_CPSase_L_D2,superfamily_SSF56059 superfamily_CP_synthsmall,HMMPfam_CPSase_sm_chain,superfamily_SSF52317,HMMPfam_GATase,superfamily_PreATP-grasp-like,HMMPfam_CPSase_L_chain,HMMPfam_CPSase_L_D2,superfamily_SSF56059,PatternScan_CPSASE_1,PatternScan_CPSASE_2,superfamily_CarbamoylP_synth_lsu_oligo,HMMPfam_CPSase_L_D3,superfamily_SSF52335,HMMPfam_MGS,HMMPfam_Amidohydro_1,superfamily_SSF51556,PatternScan_DIHYDROOROTASE_1,PatternScan_DIHYDROOROTASE_2,superfamily_Metalo_hydrolase,superfamily_Asp/Orn_carbamoyltranf,HMMPfam_OTCace_N,PatternScan_CARBAMOYLTRANSFERASE,HMMPfam_OTCace - no_errors OR2B3 442184 genome.wustl.edu 36 6 29162883 29162883 + Missense_Mutation SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 6 29162883 29162883 C A SNP OR2B3 NM_001005226 human genbank 54_36p -1 validated missense c.122 p.G41V 0.440 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 SETD1A 9739 genome.wustl.edu 36 16 30890382 30890382 + Nonsense_Mutation SNP G G T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 16 30890382 30890382 G T SNP SETD1A NM_014712 human genbank 54_36p +1 provisional nonsense c.3199 p.E1067* 1.000 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1,superfamily_SSF82199,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET - no_errors NRG1 3084 genome.wustl.edu 36 8 32741343 32741343 + Missense_Mutation SNP A A T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 8 32741343 32741343 A T SNP NRG1 NM_013956 human genbank 54_36p +1 reviewed missense c.1819 p.T607S 0.116 HMMPfam_Neuregulin superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,HMMPfam_Neuregulin - no_errors DEPDC7 91614 genome.wustl.edu 36 11 33006769 33006769 + Missense_Mutation SNP C C G novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 11 33006769 33006769 C G SNP DEPDC7 NM_001077242 human genbank 54_36p +1 validated missense c.637 p.Q213E 1.000 NULL "superfamily_""Winged helix"" DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049" - no_errors TCP11L1 55346 genome.wustl.edu 36 11 33050772 33050772 + Missense_Mutation SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 11 33050772 33050772 C A SNP TCP11L1 NM_018393 human genbank 54_36p +1 validated missense c.1504 p.L502M 1.000 HMMPfam_Tcp11 HMMPfam_Tcp11 - no_errors EPHA10 284656 genome.wustl.edu 36 1 38000053 38000053 + Missense_Mutation SNP G G T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 1 38000053 38000053 G T SNP EPHA10 NM_001099439 human genbank 54_36p -1 validated missense c.461 p.T154K 1.000 superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615 superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,PatternScan_EGF_2,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_1 - no_errors ZFP106 64397 genome.wustl.edu 36 15 40524354 40524354 + Missense_Mutation SNP T T G novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 15 40524354 40524354 T G SNP ZFP106 NM_022473 human genbank 54_36p -1 provisional missense c.3254 p.Y1085S 1.000 NULL PatternScan_WD_REPEATS_1,HMMSmart_ZnF_C2H2,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,HMMSmart_PQQ,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ENOX1 55068 genome.wustl.edu 36 13 42686228 42686228 + Missense_Mutation SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 13 42686228 42686228 C A SNP ENOX1 NM_017993 human genbank 54_36p -1 validated missense c.1830 p.L610F 1.000 NULL superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 - no_errors CDCP1 64866 genome.wustl.edu 36 3 45102354 45102354 + Missense_Mutation SNP G G T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 3 45102354 45102354 G T SNP CDCP1 NM_022842 human genbank 54_36p -1 reviewed missense c.2291 p.P764Q 1.000 NULL superfamily_Spermadhesin CUB domain - no_errors FBXO11 80204 genome.wustl.edu 36 2 47915477 47915477 + Missense_Mutation SNP T T C novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 2 47915477 47915477 T C SNP FBXO11 NM_025133 human genbank 54_36p -1 reviewed missense c.503 p.H168R 1.000 superfamily_SSF81383 HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF81383,superfamily_Pectin_lyas_like,HMMSmart_PbH1,HMMSmart_CASH,HMMPfam_zf-UBR - no_errors ADNP 23394 genome.wustl.edu 36 20 48943345 48943345 + Missense_Mutation SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 20 48943345 48943345 C A SNP ADNP NM_015339 human genbank 54_36p -1 reviewed missense c.1313 p.G438V 0.047 NULL PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox - no_errors C10orf71 118461 genome.wustl.edu 36 10 50201963 50201963 + Missense_Mutation SNP C C G novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 10 50201963 50201963 C G SNP C10orf71 NM_199459 human genbank 54_36p +1 validated missense c.1367 p.A456G 0.001 NULL NULL - no_errors LOC653895 653895 genome.wustl.edu 36 10 52156920 52156920 + RNA SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 10 52156920 52156920 C A SNP LOC653895 XR_037143 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene PXDNL 137902 genome.wustl.edu 36 8 52447074 52447074 + Silent SNP G G T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 8 52447074 52447074 G T SNP PXDNL NM_144651 human genbank 54_36p -1 validated silent c.3813 p.V1271 0.374 superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase superfamily_L domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1 - no_errors CCDC85A 114800 genome.wustl.edu 36 2 56453037 56453037 + Missense_Mutation SNP G G T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 2 56453037 56453037 G T SNP CCDC85A NM_001080433 human genbank 54_36p +1 provisional missense c.1372 p.G458C 1.000 NULL HMMPfam_DUF2216 - no_errors PPIB 5479 genome.wustl.edu 36 15 62236105 62236105 + Missense_Mutation SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 15 62236105 62236105 C A SNP PPIB NM_000942 human genbank 54_36p -1 reviewed missense c.400 p.G134W 0.998 superfamily_CSA_PPIase,HMMPfam_Pro_isomerase superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1 - no_errors UGT2B11 10720 genome.wustl.edu 36 4 70114966 70114966 + Missense_Mutation SNP T T A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 4 70114966 70114966 T A SNP UGT2B11 NM_001073 human genbank 54_36p -1 provisional missense c.64 p.S22C 0.002 NULL superfamily_SSF53756,HMMPfam_UDPGT,PatternScan_UDPGT - no_errors C6orf57 135154 genome.wustl.edu 36 6 71345991 71345991 + Splice_Site SNP G G T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 6 71345991 71345991 G T SNP C6orf57 NM_145267 human genbank 54_36p +1 validated splice_site c.217+1 e2+1 1.000 - - - no_errors FOXK2 3607 genome.wustl.edu 36 17 78114699 78114699 + Silent SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 17 78114699 78114699 C A SNP FOXK2 NM_004514 human genbank 54_36p +1 reviewed silent c.600 p.P200 0.998 NULL "superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain,PatternScan_FORK_HEAD_1,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors VCAN 1462 genome.wustl.edu 36 5 82821746 82821746 + Silent SNP G A A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 5 82821746 82821746 G A SNP VCAN NM_004385 human genbank 54_36p +1 validated silent c.144 p.T48 0.930 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,superfamily_C-type lectin-like,HMMSmart_SM00445,HMMPfam_Xlink,PatternScan_LINK_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors LOC730268 730268 genome.wustl.edu 36 2 87806810 87806810 + RNA SNP G G A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 2 87806810 87806810 G A SNP LOC730268 XR_015914 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - no_errors PDE6C 5146 genome.wustl.edu 36 10 95362902 95362902 + Missense_Mutation SNP G T T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 10 95362902 95362902 G T SNP PDE6C NM_006204 human genbank 54_36p +1 validated missense c.430 p.G144C 0.998 superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors WARS 7453 genome.wustl.edu 36 14 99871024 99871024 + Missense_Mutation SNP T T C novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 14 99871024 99871024 T C SNP WARS NM_004184 human genbank 54_36p -1 reviewed missense c.1357 p.T453A 1.000 superfamily_Nucleotidylyl transferase superfamily_S15/NS1 RNA-binding domain,HMMPfam_WHEP-TRS,PatternScan_WHEP_TRS_1,superfamily_Nucleotidylyl transferase,PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1b - no_errors GRIK2 2898 genome.wustl.edu 36 6 102180994 102180994 + Silent SNP A A T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 6 102180994 102180994 A T SNP GRIK2 NM_021956 human genbank 54_36p +1 reviewed silent c.330 p.S110 0.677 superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors TBCKL 0 genome.wustl.edu 36 4 107389532 107389532 + Missense_Mutation SNP T T C novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 4 107389532 107389532 T C SNP TBCKL NM_033115 human genbank 54_36p -1 provisional missense c.526 p.I176V 1.000 superfamily_Kinase_like superfamily_Kinase_like,HMMPfam_Pkinase,superfamily_RabGAP_TBC,HMMPfam_TBC,HMMSmart_TBC,superfamily_Rhodanese-like,HMMSmart_RHOD,HMMPfam_Rhodanese - no_errors MYH15 22989 genome.wustl.edu 36 3 109590514 109590514 + Missense_Mutation SNP G G T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 3 109590514 109590514 G T SNP MYH15 NM_014981 human genbank 54_36p -1 validated missense c.5588 p.T1863N 1.000 HMMPfam_Myosin_tail_1,superfamily_Spectrin repeat HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,superfamily_Prefoldin,HMMPfam_Myosin_tail_1,superfamily_Spectrin repeat - no_errors LOC644950 0 genome.wustl.edu 36 3 110611479 110611479 + Silent SNP G G T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 3 110611479 110611479 G T SNP LOC644950 XM_001717224 human genbank 54_36p -1 model silent c.108 p.L36 1.000 superfamily_Histone-fold,HMMSmart_SM00428 superfamily_Histone-fold,HMMSmart_SM00428,HMMPfam_Histone - no_errors PPP2R1B 5519 genome.wustl.edu 36 11 111123933 111123933 + Missense_Mutation SNP C C G novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 11 111123933 111123933 C G SNP PPP2R1B NM_181699 human genbank 54_36p -1 reviewed missense c.1354 p.D452H 1.000 superfamily_ARM-type_fold,HMMPfam_HEAT superfamily_ARM-type_fold,HMMPfam_HEAT - no_errors GPR85 54329 genome.wustl.edu 36 7 112511509 112511509 + Missense_Mutation SNP C A A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 7 112511509 112511509 C A SNP GPR85 NM_018970 human genbank 54_36p -1 validated missense c.504 p.E168D 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors DCLRE1B 64858 genome.wustl.edu 36 1 114256181 114256181 + Missense_Mutation SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 1 114256181 114256181 C A SNP DCLRE1B NM_022836 human genbank 54_36p +1 provisional missense c.1444 p.P482T 0.004 NULL HMMPfam_Lactamase_B,superfamily_SSF56281,HMMPfam_DRMBL - no_errors OR10S1 219873 genome.wustl.edu 36 11 123353559 123353559 + Missense_Mutation SNP G G C novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 11 123353559 123353559 G C SNP OR10S1 NM_001004474 human genbank 54_36p -1 provisional missense c.50 p.P17R 0.418 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors TMEM132B 114795 genome.wustl.edu 36 12 124400764 124400764 + Missense_Mutation SNP A A T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 12 124400764 124400764 A T SNP TMEM132B NM_052907 human genbank 54_36p +1 provisional missense c.866 p.N289I 0.975 NULL NULL - no_errors FAT4 79633 genome.wustl.edu 36 4 126591757 126591757 + Missense_Mutation SNP G G T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 4 126591757 126591757 G T SNP FAT4 NM_024582 human genbank 54_36p +1 validated missense c.10136 p.G3379V 1.000 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_EGF - no_errors RIMBP2 23504 genome.wustl.edu 36 12 129492670 129492670 + Missense_Mutation SNP A A T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 12 129492670 129492670 A T SNP RIMBP2 NM_015347 human genbank 54_36p -1 validated missense c.1129 p.S377T 1.000 superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060 superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060 - no_errors ADAMTS8 11095 genome.wustl.edu 36 11 129780743 129780743 + Missense_Mutation SNP C C T rs61753089 unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 11 129780743 129780743 C T SNP ADAMTS8 NM_007037 human genbank 54_36p -1 reviewed missense c.2590 p.G864S 0.974 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors GOLGA3 2802 genome.wustl.edu 36 12 131908685 131908685 + Missense_Mutation SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 12 131908685 131908685 C A SNP GOLGA3 NM_005895 human genbank 54_36p -1 reviewed missense c.103 p.V35L 0.000 NULL superfamily_Spectrin repeat,superfamily_Prefoldin - no_errors SPOCK1 6695 genome.wustl.edu 36 5 136348749 136348749 + Missense_Mutation SNP T T A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 5 136348749 136348749 T A SNP SPOCK1 NM_004598 human genbank 54_36p -1 reviewed missense c.970 p.S324C 0.970 superfamily_Thyroglobulin_1,HMMPfam_Thyroglobulin_1 superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2,HMMPfam_SPARC_Ca_bdg,superfamily_SSF47473,superfamily_Thyroglobulin_1,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_TY - no_errors KIAA1549 57670 genome.wustl.edu 36 7 138246564 138246564 + Missense_Mutation SNP G G T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 7 138246564 138246564 G T SNP KIAA1549 NM_020910 human genbank 54_36p -1 validated missense c.2863 p.P955T 0.987 NULL PatternScan_HTH_LUXR_1 - no_errors CACNA1B 774 genome.wustl.edu 36 9 140126747 140126747 + Missense_Mutation SNP G T T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 9 140126747 140126747 G T SNP CACNA1B NM_000718 human genbank 54_36p +1 validated missense c.5505 p.K1835N 1.000 NULL superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ - no_errors PCDHA1 56147 genome.wustl.edu 36 5 140148379 140148379 + Missense_Mutation SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 5 140148379 140148379 C A SNP PCDHA1 NM_018900 human genbank 54_36p +1 reviewed missense c.2320 p.P774T 0.990 NULL superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors TRAPPC9 83696 genome.wustl.edu 36 8 141379838 141379838 + Missense_Mutation SNP C C G novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 8 141379838 141379838 C G SNP TRAPPC9 NM_031466 human genbank 54_36p -1 provisional missense c.1974 p.L658F 1.000 NULL HMMPfam_Trs120 - no_errors uc010lpb.1 0 genome.wustl.edu 36 7 143138966 143138966 + Nonsense_Mutation SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 7 143138966 143138966 C A SNP uc010lpb.1 ENST00000291129 human ensembl 54_36p +1 known nonsense c.710 p.S237* 0.220 NULL NULL - no_start_codon OR10J3 441911 genome.wustl.edu 36 1 157550327 157550327 + Silent SNP G G A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 1 157550327 157550327 G A SNP OR10J3 NM_001004467 human genbank 54_36p -1 provisional silent c.747 p.V249 0.859 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors LY75 4065 genome.wustl.edu 36 2 160463715 160463715 + Missense_Mutation SNP A A T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 2 160463715 160463715 A T SNP LY75 NM_002349 human genbank 54_36p -1 validated missense c.196 p.L66I 0.926 superfamily_Ricin B-like lectins,HMMSmart_SM00458 superfamily_Ricin B-like lectins,HMMSmart_SM00458,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors LRP2 4036 genome.wustl.edu 36 2 169702211 169702211 + Silent SNP T T A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 2 169702211 169702211 T A SNP LRP2 NM_004525 human genbank 54_36p -1 validated silent c.13557 p.I4519 0.993 NULL 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 UBTD2 92181 genome.wustl.edu 36 5 171571676 171571676 + Silent SNP C T T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 5 171571676 171571676 C T SNP UBTD2 NM_152277 human genbank 54_36p -1 validated silent c.468 p.L156 0.998 superfamily_SSF54236,HMMSmart_UBQ PatternScan_UBIQUITIN_1,superfamily_SSF54236,HMMSmart_UBQ,HMMPfam_ubiquitin - no_errors HMCN1 83872 genome.wustl.edu 36 1 184230683 184230683 + Missense_Mutation SNP G T T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 1 184230683 184230683 G T SNP HMCN1 NM_031935 human genbank 54_36p +1 reviewed missense c.3619 p.G1207C 0.899 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406 superfamily_vWA-like,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,HMMPfam_I-set,HMMSmart_SM00406,PatternScan_CECROPIN,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00682,HMMPfam_G2F,superfamily_GFP-like,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_EGF_CA,PatternScan_EGF_2 - no_errors GPR1 2825 genome.wustl.edu 36 2 206749812 206749812 + Missense_Mutation SNP G T T novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 2 206749812 206749812 G T SNP GPR1 NM_001098199 human genbank 54_36p -1 validated missense c.405 p.H135Q 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors CCDC108 255101 genome.wustl.edu 36 2 219577207 219577207 + Missense_Mutation SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 2 219577207 219577207 C A SNP CCDC108 NM_194302 human genbank 54_36p -1 provisional missense c.5266 p.G1756W 0.000 NULL PatternScan_MGMT,superfamily_PapD-like - no_errors OR14A16 284532 genome.wustl.edu 36 1 246045507 246045507 + Missense_Mutation SNP C C A novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 1 246045507 246045507 C A SNP OR14A16 NM_001001966 human genbank 54_36p -1 provisional missense c.148 p.D50Y 0.024 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7519120 7519125 + In_Frame_Del DEL GGTGGG GGTGGG - novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 GGTGGG GGTGGG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 17 7519120 7519125 GGTGGG - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed in_frame_del c.535_530 p.PH177in_frame_del 1.000:1.000:1.000:0.997:0.998:1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain (deletion:cds_exon[7519096,7519279]) no_errors EPOR 2057 genome.wustl.edu 36 19 11350031 11350060 + In_Frame_Del DEL GGAGGTCCTCACTGGGCGGGTTCCGGGGCA GGAGGTCCTCACTGGGCGGGTTCCGGGGCA - novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 GGAGGTCCTCACTGGGCGGGTTCCGGGGCA GGAGGTCCTCACTGGGCGGGTTCCGGGGCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 19 11350031 11350060 GGAGGTCCTCACTGGGCGGGTTCCGGGGCA - DEL EPOR NM_000121 human genbank 54_36p -1 reviewed in_frame_del c.1156_1127 p.LPRNPPSEDL376in_frame_del 0.000:0.001:0.007:0.007:0.006:0.005:0.017:0.177:0.104:0.096:0.004:0.003:0.001:0.001:0.001:0.000:0.002:0.133:0.167:0.135:0.131:0.176:0.198:0.240:0.732:0.970:0.995:0.995:0.995:0.995 NULL superfamily_Fibronectin type III,HMMPfam_EpoR_lig-bind,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_HEMATOPO_REC_L_F1 (deletion:cds_exon[11349660,11350271]) no_errors GCKR 2646 genome.wustl.edu 36 2 27584097 27584105 + In_Frame_Del DEL CTTCCCTCT CTTCCCTCT - novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 CTTCCCTCT CTTCCCTCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 2 27584097 27584105 CTTCCCTCT - DEL GCKR NM_001486 human genbank 54_36p +1 reviewed in_frame_del c.1189_1197 p.PSL398in_frame_del 0.995:0.997:0.997:0.996:0.989:0.948:0.953:0.956:0.948 superfamily_SIS domain superfamily_SIS domain,PatternScan_GCKR (deletion:cds_exon[27584052,27584148]) no_errors PODN 127435 genome.wustl.edu 36 1 53319117 53319131 + In_Frame_Del DEL CTCAAGGGGATCTTT CTCAAGGGGATCTTT - novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 CTCAAGGGGATCTTT CTCAAGGGGATCTTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 1 53319117 53319131 CTCAAGGGGATCTTT - DEL PODN NM_153703 human genbank 54_36p +1 validated in_frame_del c.1786_1800 p.KGIFL597in_frame_del 1.000:1.000:0.996:1.000:1.000:1.000:1.000:1.000:0.991:0.998:1.000:1.000:1.000:1.000:1.000 superfamily_SSF52047 superfamily_SSF52058,HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRR_TYP,HMMPfam_LRR_1,superfamily_SSF52047 (deletion:cds_exon[53318988,53319136]) no_errors OR10J3 441911 genome.wustl.edu 36 1 157550497 157550534 + Frame_Shift_Del DEL TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA - novel unknown TCGA-09-1675-01B-01W-0633-09 TCGA-09-1675-10A-01W-0633-09 TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 736114fa-92b0-47cf-8ada-45c45b07c3f5 ff6b0463-d32c-492e-b911-ca0cb1274916 1 157550497 157550534 TGTCTGTGCAGGCCAGCTTCAGCAGGTGTCTCACATCA - DEL OR10J3 NM_001004467 human genbank 54_36p -1 provisional frame_shift_del c.577_540 p.D181fs 0.091:0.060:0.061:0.023:0.000:0.000:0.000:0.039:0.988:1.000:0.994:0.993:0.977:0.981:0.999:0.999:0.925:0.919:0.917:0.856:0.870:0.789:0.622:0.632:0.002:0.001:0.027:0.026:0.003:0.003:0.000:0.001:0.133:0.144:0.179:0.977:0.997:0.998 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 (deletion:cds_exon[157550084,157551073]) no_errors