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 LOC100133841 0 genome.wustl.edu 36 19 41854 41854 + Missense_Mutation SNP A A G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 19 41854 41854 A G SNP LOC100133841 XM_001715845 human genbank 54_36p -1 model missense c.335 p.V112A 0.000 NULL NULL - no_start_codon:pseudogene SMARCA2 6595 genome.wustl.edu 36 9 2066321 2066321 + Silent SNP G G A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 9 2066321 2066321 G A SNP SMARCA2 NM_003070 human genbank 54_36p +1 reviewed silent c.2028 p.Q676 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_QLQ,HMMPfam_HSA,HMMSmart_SM00573,HMMPfam_BRK,HMMSmart_SM00592,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors TRPV3 162514 genome.wustl.edu 36 17 3382937 3382937 + Missense_Mutation SNP T T A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 17 3382937 3382937 T A SNP TRPV3 NM_145068 human genbank 54_36p -1 reviewed missense c.829 p.I277F 0.996 superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_Ion_trans - no_errors ART1 417 genome.wustl.edu 36 11 3637414 3637414 + Missense_Mutation SNP G G A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 11 3637414 3637414 G A SNP ART1 NM_004314 human genbank 54_36p +1 reviewed missense c.89 p.R30Q 0.728 NULL superfamily_SSF56399,HMMPfam_ART,PatternScan_ART - no_errors DNM2 1785 genome.wustl.edu 36 19 10777607 10777607 + Missense_Mutation SNP C C G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 19 10777607 10777607 C G SNP DNM2 NM_001005360 human genbank 54_36p +1 reviewed missense c.1509 p.S503R 0.959 HMMPfam_Dynamin_M HMMSmart_SM00053,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,PatternScan_DYNAMIN,HMMPfam_Dynamin_M,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GED,HMMSmart_SM00302 - no_errors ATP6V1C2 245973 genome.wustl.edu 36 2 10829487 10829487 + Missense_Mutation SNP T T C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 2 10829487 10829487 T C SNP ATP6V1C2 NM_001039362 human genbank 54_36p +1 reviewed missense c.542 p.L181P 0.998 HMMPfam_V-ATPase_C HMMPfam_V-ATPase_C - no_errors ECSIT 51295 genome.wustl.edu 36 19 11484906 11484906 + Missense_Mutation SNP C C G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 19 11484906 11484906 C G SNP ECSIT NM_016581 human genbank 54_36p -1 validated missense c.703 p.E235Q 1.000 HMMPfam_ECSIT HMMPfam_ECSIT - no_errors LOC649352 649352 genome.wustl.edu 36 8 12282139 12282139 + RNA SNP C C T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 8 12282139 12282139 C T SNP LOC649352 XR_042361 human genbank 54_36p -1 model rna NULL NULL 0.973 - - - pseudogene ARNTL 406 genome.wustl.edu 36 11 13363896 13363896 + Missense_Mutation SNP G G C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 11 13363896 13363896 G C SNP ARNTL NM_001030272 human genbank 54_36p +1 reviewed missense c.1699 p.D567H 1.000 NULL superfamily_HLH_basic,HMMPfam_HLH,HMMSmart_HLH,HMMSmart_PAS,HMMPfam_PAS,superfamily_SSF55785,HMMPfam_PAS_3,HMMSmart_PAC - no_errors C3orf20 84077 genome.wustl.edu 36 3 14738294 14738294 + Missense_Mutation SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 3 14738294 14738294 G T SNP C3orf20 NM_032137 human genbank 54_36p +1 predicted missense c.1565 p.R522L 0.957 NULL NULL - no_errors INSC 387755 genome.wustl.edu 36 11 15179057 15179057 + Missense_Mutation SNP C C A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 11 15179057 15179057 C A SNP INSC NM_001031853 human genbank 54_36p +1 provisional missense c.946 p.H316N 0.989 superfamily_ARM repeat,HMMSmart_SM00185 PatternScan_PA2_HIS,superfamily_ARM repeat,HMMSmart_SM00185 - no_errors LOC644768 644768 genome.wustl.edu 36 22 15295166 15295166 + RNA SNP A A T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 22 15295166 15295166 A T SNP LOC644768 XR_016834 human genbank 54_36p -1 model rna NULL NULL 0.993 - - - pseudogene ABHD8 79575 genome.wustl.edu 36 19 17272733 17272733 + Silent SNP A A T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 19 17272733 17272733 A T SNP ABHD8 NM_024527 human genbank 54_36p -1 validated silent c.693 p.A231 0.241 superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1 superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1 - no_errors CTAGE1 64693 genome.wustl.edu 36 18 18251131 18251131 + Missense_Mutation SNP T T A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 18 18251131 18251131 T A SNP CTAGE1 NM_172241 human genbank 54_36p -1 validated missense c.642 p.R214S 0.037 NULL NULL - no_errors RRAGA 10670 genome.wustl.edu 36 9 19040426 19040426 + Missense_Mutation SNP T T A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 9 19040426 19040426 T A SNP RRAGA NM_006570 human genbank 54_36p +1 validated missense c.769 p.S257T 1.000 HMMPfam_Gtr1_RagA superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Gtr1_RagA - no_errors LOC440225 440225 genome.wustl.edu 36 15 19402758 19402758 + RNA SNP C C A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 15 19402758 19402758 C A SNP LOC440225 XR_042334 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene SAP18 10284 genome.wustl.edu 36 13 20613102 20613102 + Silent SNP T T C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 13 20613102 20613102 T C SNP SAP18 NM_005870 human genbank 54_36p +1 reviewed silent c.150 p.N50 1.000 HMMPfam_SAP18 HMMPfam_SAP18 - no_errors APOB 338 genome.wustl.edu 36 2 21113480 21113480 + Silent SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 2 21113480 21113480 G T SNP APOB NM_000384 human genbank 54_36p -1 reviewed silent c.690 p.G230 0.995 superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638 superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,HMMPfam_Vitellogenin_N,HMMSmart_SM00638,superfamily_Lipovitellin-phosvitin complex superhelical domain,HMMPfam_DUF1943,HMMPfam_DUF1081 - no_errors RECQL 5965 genome.wustl.edu 36 12 21534416 21534416 + Silent SNP T T G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 12 21534416 21534416 T G SNP RECQL NM_002907 human genbank 54_36p -1 reviewed silent c.378 p.P126 0.979 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors CDH12 1010 genome.wustl.edu 36 5 21787900 21787900 + Missense_Mutation SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 5 21787900 21787900 G T SNP CDH12 NM_004061 human genbank 54_36p -1 reviewed missense c.2088 p.D696E 0.017 HMMPfam_Cadherin_C superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors LOC100133412 0 genome.wustl.edu 36 9 22152548 22152548 + Missense_Mutation SNP G G A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 9 22152548 22152548 G A SNP LOC100133412 XM_001716309 human genbank 54_36p +1 model missense c.280 p.D94N 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon MYO18B 84700 genome.wustl.edu 36 22 24752587 24752587 + Missense_Mutation SNP A A T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 22 24752587 24752587 A T SNP MYO18B NM_032608 human genbank 54_36p +1 reviewed missense c.6647 p.K2216M 0.004 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ - no_errors ZKSCAN2 342357 genome.wustl.edu 36 16 25162899 25162899 + Missense_Mutation SNP C C G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 16 25162899 25162899 C G SNP ZKSCAN2 NM_001012981 human genbank 54_36p -1 validated missense c.1689 p.K563N 1.000 NULL HMMPfam_SCAN,HMMSmart_SM00431,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 KIAA0556 23247 genome.wustl.edu 36 16 27668451 27668451 + Missense_Mutation SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 16 27668451 27668451 G T SNP KIAA0556 NM_015202 human genbank 54_36p +1 validated missense c.2669 p.S890I 0.837 NULL superfamily_Galactose-binding domain-like,PatternScan_AKH - no_errors XPO6 23214 genome.wustl.edu 36 16 28075189 28075189 + Silent SNP T T A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 16 28075189 28075189 T A SNP XPO6 NM_015171 human genbank 54_36p -1 provisional silent c.804 p.P268 0.750 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_IBN_N,HMMPfam_Xpo1 - no_errors HSD3B7 80270 genome.wustl.edu 36 16 30905460 30905460 + Missense_Mutation SNP C C G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 16 30905460 30905460 C G SNP HSD3B7 NM_025193 human genbank 54_36p +1 reviewed missense c.465 p.H155Q 0.965 superfamily_NAD(P)-bd,HMMPfam_3Beta_HSD superfamily_NAD(P)-bd,HMMPfam_3Beta_HSD - no_errors PEX12 5193 genome.wustl.edu 36 17 30928656 30928656 + Missense_Mutation SNP A A G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 17 30928656 30928656 A G SNP PEX12 NM_000286 human genbank 54_36p -1 reviewed missense c.194 p.L65P 0.990 HMMPfam_Pex2_Pex12 HMMPfam_Pex2_Pex12,superfamily_RING/U-box - no_errors DDX58 23586 genome.wustl.edu 36 9 32483809 32483809 + Missense_Mutation SNP A A G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 9 32483809 32483809 A G SNP DDX58 NM_014314 human genbank 54_36p -1 reviewed missense c.373 p.S125P 0.075 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors TTC27 55622 genome.wustl.edu 36 2 32757472 32757472 + Silent SNP G G A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 2 32757472 32757472 G A SNP TTC27 NM_017735 human genbank 54_36p +1 provisional silent c.1098 p.V366 1.000 NULL superfamily_SSF48452,HMMPfam_TPR_1,HMMSmart_TPR,HMMPfam_TPR_2 - no_errors ITPR3 3710 genome.wustl.edu 36 6 33740704 33740704 + Missense_Mutation SNP G G A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 6 33740704 33740704 G A SNP ITPR3 NM_002224 human genbank 54_36p +1 validated missense c.1228 p.E410K 1.000 HMMPfam_MIR,superfamily_MIR HMMPfam_Ins145_P3_rec,superfamily_MIR,HMMSmart_MIR,HMMPfam_MIR,superfamily_SSF100909,HMMPfam_RYDR_ITPR,HMMPfam_RIH_assoc,HMMPfam_Ion_trans - no_errors MLLT6 4302 genome.wustl.edu 36 17 34126615 34126615 + Missense_Mutation SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 17 34126615 34126615 G T SNP MLLT6 NM_005937 human genbank 54_36p +1 validated missense c.1506 p.Q502H 1.000 NULL superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1 - no_errors GJB5 2709 genome.wustl.edu 36 1 34995797 34995797 + Missense_Mutation SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 1 34995797 34995797 G T SNP GJB5 NM_005268 human genbank 54_36p +1 provisional missense c.279 p.M93I 1.000 HMMPfam_Connexin HMMPfam_Connexin,HMMSmart_CNX,PatternScan_CONNEXINS_1,HMMPfam_Connexin_CCC,PatternScan_CONNEXINS_2 - no_errors STARD3 10948 genome.wustl.edu 36 17 35063453 35063453 + Missense_Mutation SNP A A C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 17 35063453 35063453 A C SNP STARD3 NM_006804 human genbank 54_36p +1 provisional missense c.143 p.D48A 1.000 HMMPfam_MENTAL HMMPfam_MENTAL,superfamily_SSF55961,HMMPfam_START,HMMSmart_START - no_errors CXorf59 286464 genome.wustl.edu 36 X 36072611 36072611 + Missense_Mutation SNP G G A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f X 36072611 36072611 G A SNP CXorf59 NM_173695 human genbank 54_36p +1 predicted missense c.1273 p.V425M 0.228 NULL superfamily_Calponin-homology - no_errors LMBRD2 92255 genome.wustl.edu 36 5 36139950 36139950 + Silent SNP T T G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 5 36139950 36139950 T G SNP LMBRD2 NM_001007527 human genbank 54_36p -1 validated silent c.2043 p.G681 1.000 NULL HMMPfam_LMBR1 - no_errors INPP5B 3633 genome.wustl.edu 36 1 38170077 38170077 + Missense_Mutation SNP C C A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 1 38170077 38170077 C A SNP INPP5B ENST00000373023 human ensembl 54_36p -1 known missense c.627 p.K209N 0.000 NULL PatternScan_LECTIN_LEGUME_BETA,superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors MACF1 23499 genome.wustl.edu 36 1 39680824 39680824 + Missense_Mutation SNP C C G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 1 39680824 39680824 C G SNP MACF1 NM_033044 human genbank 54_36p +1 reviewed missense c.14431 p.H4811D 1.000 superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_GAS2 - no_errors CDC2L5 8621 genome.wustl.edu 36 7 40069001 40069001 + Silent SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 7 40069001 40069001 G T SNP CDC2L5 NM_003718 human genbank 54_36p +1 reviewed silent c.2652 p.L884 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors CAPN3 825 genome.wustl.edu 36 15 40490438 40490438 + Missense_Mutation SNP C C A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 15 40490438 40490438 C A SNP CAPN3 NM_000070 human genbank 54_36p +1 reviewed missense c.2328 p.N776K 1.000 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 LOC100128682 0 genome.wustl.edu 36 19 40591057 40591057 + Missense_Mutation SNP G G C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 19 40591057 40591057 G C SNP LOC100128682 XM_001719567 human genbank 54_36p +1 model missense c.568 p.V190L 0.002 NULL NULL - no_errors HPDL 84842 genome.wustl.edu 36 1 45566218 45566218 + Missense_Mutation SNP G G C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 1 45566218 45566218 G C SNP HPDL NM_032756 human genbank 54_36p +1 validated missense c.811 p.E271Q 0.000 superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase - no_errors AXL 558 genome.wustl.edu 36 19 46419749 46419749 + Silent SNP C C A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 19 46419749 46419749 C A SNP AXL NM_021913 human genbank 54_36p +1 reviewed silent c.534 p.V178 0.532 superfamily_Immunoglobulin,HMMSmart_SM00409 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors DCC 1630 genome.wustl.edu 36 18 48937754 48937754 + Missense_Mutation SNP C C A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 18 48937754 48937754 C A SNP DCC NM_005215 human genbank 54_36p +1 validated missense c.1292 p.A431D 1.000 HMMSmart_SM00409,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_Neogenin_C - no_errors ADNP 23394 genome.wustl.edu 36 20 48942970 48942970 + Missense_Mutation SNP T T C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 20 48942970 48942970 T C SNP ADNP NM_015339 human genbank 54_36p -1 reviewed missense c.1688 p.H563R 1.000 NULL PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox - no_errors IMPDH2 3615 genome.wustl.edu 36 3 49039169 49039169 + Silent SNP A A G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 3 49039169 49039169 A G SNP IMPDH2 NM_000884 human genbank 54_36p -1 reviewed silent c.774 p.Y258 0.999 superfamily_SSF51412,HMMPfam_IMPDH superfamily_SSF51412,HMMPfam_IMPDH,superfamily_SSF54631,HMMPfam_CBS,HMMSmart_CBS,PatternScan_IMP_DH_GMP_RED - no_errors ERO1L 30001 genome.wustl.edu 36 14 52189639 52189639 + Missense_Mutation SNP A A G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 14 52189639 52189639 A G SNP ERO1L NM_014584 human genbank 54_36p -1 provisional missense c.953 p.V318A 1.000 superfamily_ERO1,HMMPfam_ERO1 superfamily_ERO1,HMMPfam_ERO1 - no_errors ITIH1 3697 genome.wustl.edu 36 3 52797312 52797312 + Missense_Mutation SNP T T C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 3 52797312 52797312 T C SNP ITIH1 NM_002215 human genbank 54_36p +1 validated missense c.2030 p.I677T 0.970 NULL HMMSmart_SM00609,HMMPfam_VIT,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_ITI_HC_C - no_errors LRRC1 55227 genome.wustl.edu 36 6 53895464 53895464 + Missense_Mutation SNP C C T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 6 53895464 53895464 C T SNP LRRC1 NM_018214 human genbank 54_36p +1 validated missense c.1489 p.R497W 1.000 NULL superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1 - no_errors CCDC155 147872 genome.wustl.edu 36 19 54590244 54590244 + Missense_Mutation SNP G G C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 19 54590244 54590244 G C SNP CCDC155 NM_144688 human genbank 54_36p +1 provisional missense c.218 p.R73P 0.941 NULL NULL - no_errors ZNF473 25888 genome.wustl.edu 36 19 55240106 55240106 + Missense_Mutation SNP G G C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 19 55240106 55240106 G C SNP ZNF473 NM_001006656 human genbank 54_36p +1 validated missense c.594 p.Q198H 0.005 NULL 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 OR5I1 10798 genome.wustl.edu 36 11 55460450 55460450 + Missense_Mutation SNP C C A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 11 55460450 55460450 C A SNP OR5I1 NM_006637 human genbank 54_36p -1 reviewed missense c.3 p.M1I 0.480 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors FPR3 2359 genome.wustl.edu 36 19 57019336 57019336 + Missense_Mutation SNP T T A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 19 57019336 57019336 T A SNP FPR3 NM_002030 human genbank 54_36p +1 validated missense c.523 p.Y175N 0.001 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 ANXA2 302 genome.wustl.edu 36 15 58440438 58440438 + Silent SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 15 58440438 58440438 G T SNP ANXA2 NM_001002858 human genbank 54_36p -1 reviewed silent c.405 p.S135 1.000 superfamily_Annexin,HMMPfam_Annexin superfamily_Annexin,HMMPfam_Annexin,PatternScan_ANNEXIN,HMMSmart_SM00335 - no_errors LOC727842 727842 genome.wustl.edu 36 6 58554306 58554306 + RNA SNP T T C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 6 58554306 58554306 T C SNP LOC727842 XR_015140 human genbank 54_36p -1 model rna NULL NULL 0.999 - - - pseudogene CYP7A1 1581 genome.wustl.edu 36 8 59567478 59567478 + Silent SNP G G A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 8 59567478 59567478 G A SNP CYP7A1 NM_000780 human genbank 54_36p -1 reviewed silent c.1203 p.Y401 1.000 HMMPfam_p450,superfamily_Cytochrome_P450 HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 - no_errors NLRP2 55655 genome.wustl.edu 36 19 60193272 60193272 + Silent SNP C C T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 19 60193272 60193272 C T SNP NLRP2 NM_017852 human genbank 54_36p +1 provisional silent c.2437 p.L813 0.303 superfamily_RNI-like,HMMSmart_SM00368 superfamily_DEATH domain,HMMPfam_PAAD_DAPIN,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,superfamily_RNI-like,HMMSmart_SM00368 - no_errors TNRC18 27320 genome.wustl.edu 36 7 62678136 62678136 + Missense_Mutation SNP A A T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 7 62678136 62678136 A T SNP TNRC18 XM_376618 human genbank 54_36p -1 model missense c.391 p.Y131N 1.000 NULL NULL - pseudogene BPTF 2186 genome.wustl.edu 36 17 63372142 63372142 + Missense_Mutation SNP C C G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 17 63372142 63372142 C G SNP BPTF NM_182641 human genbank 54_36p +1 reviewed missense c.6856 p.Q2286E 0.693 NULL HMMPfam_FYDLN_acid,HMMPfam_DDT,HMMSmart_DDT,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,PatternScan_EGF_2,HMMSmart_BROMO,superfamily_Bromodomain,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors ZWILCH 55055 genome.wustl.edu 36 15 64611729 64611729 + Missense_Mutation SNP C C T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 15 64611729 64611729 C T SNP ZWILCH NM_017975 human genbank 54_36p +1 validated missense c.1246 p.P416S 0.970 HMMPfam_DUF2352 HMMPfam_DUF2352 - no_errors IL26 55801 genome.wustl.edu 36 12 66905757 66905757 + Missense_Mutation SNP A A C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 12 66905757 66905757 A C SNP IL26 NM_018402 human genbank 54_36p -1 reviewed missense c.47 p.L16R 0.079 NULL superfamily_4_helix_cytokine,HMMSmart_IL10,PatternScan_INTERLEUKIN_10,HMMPfam_IL10 - no_errors CYP26B1 56603 genome.wustl.edu 36 2 72224829 72224829 + Silent SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 2 72224829 72224829 G T SNP CYP26B1 NM_019885 human genbank 54_36p -1 reviewed silent c.226 p.R76 0.945 HMMPfam_p450,superfamily_Cytochrome_P450 HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 - no_errors XIST 7503 genome.wustl.edu 36 X 72963663 72963663 + RNA SNP C C T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f X 72963663 72963663 C T SNP XIST NR_001564 human genbank 54_36p -1 reviewed rna NULL NULL 0.022 - - - no_errors SHROOM3 57619 genome.wustl.edu 36 4 77880503 77880503 + Missense_Mutation SNP G G C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 4 77880503 77880503 G C SNP SHROOM3 NM_020859 human genbank 54_36p +1 validated missense c.2150 p.R717P 0.100 NULL superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_ASD1,HMMPfam_ASD2 - no_errors LPAR3 23566 genome.wustl.edu 36 1 85103667 85103667 + Missense_Mutation SNP A A G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 1 85103667 85103667 A G SNP LPAR3 NM_012152 human genbank 54_36p -1 reviewed missense c.725 p.M242T 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LOC100130433 0 genome.wustl.edu 36 9 87991306 87991306 + Missense_Mutation SNP C T T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 9 87991306 87991306 C T SNP LOC100130433 XM_001723202 human genbank 54_36p +1 model missense c.277 p.R93C 0.000 NULL NULL - no_errors MDN1 23195 genome.wustl.edu 36 6 90520041 90520041 + Missense_Mutation SNP T T C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 6 90520041 90520041 T C SNP MDN1 NM_014611 human genbank 54_36p -1 provisional missense c.2986 p.T996A 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_vWA-like,HMMSmart_SM00327 - no_errors DICER1 23405 genome.wustl.edu 36 14 94662749 94662749 + Missense_Mutation SNP T T G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 14 94662749 94662749 T G SNP DICER1 NM_030621 human genbank 54_36p -1 reviewed missense c.824 p.E275A 1.000 superfamily_SSF52540 HMMSmart_DEXDc,superfamily_SSF52540,HMMPfam_DEAD,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_dsRNA_bind,HMMPfam_PAZ,superfamily_SSF101690,superfamily_RNase_III,HMMSmart_RIBOc,HMMPfam_Ribonuclease_3,PatternScan_RNASE_3_1,superfamily_SSF54768,HMMSmart_DSRM,HMMPfam_dsrm - no_errors LOC648927 0 genome.wustl.edu 36 X 95114841 95114841 + RNA SNP G A A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f X 95114841 95114841 G A SNP LOC648927 XR_038906 human genbank 54_36p -1 model rna NULL NULL 0.306 - - - pseudogene PTCH1 5727 genome.wustl.edu 36 9 97249038 97249038 + Missense_Mutation SNP G G A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 9 97249038 97249038 G A SNP PTCH1 NM_000264 human genbank 54_36p -1 reviewed missense c.4321 p.P1441S 0.083 NULL HMMPfam_Patched,superfamily_SSF82866 - no_errors LASS3 204219 genome.wustl.edu 36 15 98837161 98837161 + Nonsense_Mutation SNP T T A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 15 98837161 98837161 T A SNP LASS3 NM_178842 human genbank 54_36p -1 validated nonsense c.511 p.K171* 0.967 HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8 superfamily_Homeodomain-like,HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8 - no_errors OR5H1 26341 genome.wustl.edu 36 3 99334940 99334940 + Missense_Mutation SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 3 99334940 99334940 G T SNP OR5H1 NM_001005338 human genbank 54_36p +1 provisional missense c.709 p.A237S 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR4F6 390648 genome.wustl.edu 36 15 100163678 100163678 + Missense_Mutation SNP C C A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 15 100163678 100163678 C A SNP OR4F6 NM_001005326 human genbank 54_36p +1 provisional missense c.233 p.A78D 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 HNRNPH2 3188 genome.wustl.edu 36 X 100554077 100554077 + Missense_Mutation SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f X 100554077 100554077 G T SNP HNRNPH2 NM_001032393 human genbank 54_36p +1 reviewed missense c.445 p.G149W 1.000 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,HMMPfam_zf-RNPHF - no_errors COL11A1 1301 genome.wustl.edu 36 1 103127631 103127631 + Missense_Mutation SNP T T A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 1 103127631 103127631 T A SNP COL11A1 NM_080629 human genbank 54_36p -1 reviewed missense c.4468 p.T1490S 0.941 HMMPfam_Collagen HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI - no_errors PRPF38B 55119 genome.wustl.edu 36 1 109043849 109043849 + Missense_Mutation SNP G G C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 1 109043849 109043849 G C SNP PRPF38B NM_018061 human genbank 54_36p +1 validated missense c.1325 p.R442T 1.000 NULL HMMPfam_PRP38 - no_errors APC 324 genome.wustl.edu 36 5 112207571 112207571 + Missense_Mutation SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 5 112207571 112207571 G T SNP APC NM_000038 human genbank 54_36p +1 reviewed missense c.8381 p.S2794I 1.000 HMMPfam_EB1_binding superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm,HMMPfam_APC_15aa,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_APC_basic,HMMPfam_EB1_binding - no_errors CSMD3 114788 genome.wustl.edu 36 8 113377271 113377271 + Missense_Mutation SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 8 113377271 113377271 G T SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.8581 p.H2861N 1.000 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10 - no_errors FAM70B 348013 genome.wustl.edu 36 13 113644732 113644732 + Missense_Mutation SNP C C A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 13 113644732 113644732 C A SNP FAM70B NM_182614 human genbank 54_36p -1 provisional missense c.170 p.G57V 1.000 NULL NULL - no_errors AMPD1 270 genome.wustl.edu 36 1 115021648 115021648 + Missense_Mutation SNP G G A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 1 115021648 115021648 G A SNP AMPD1 NM_000036 human genbank 54_36p -1 reviewed missense c.1235 p.A412V 0.649 superfamily_SSF51556,HMMPfam_A_deaminase superfamily_SSF51556,HMMPfam_A_deaminase,PatternScan_A_DEAMINASE - no_errors RFX6 222546 genome.wustl.edu 36 6 117344116 117344116 + Silent SNP C C T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 6 117344116 117344116 C T SNP RFX6 NM_173560 human genbank 54_36p +1 provisional silent c.918 p.L306 1.000 NULL HMMPfam_RFX_DNA_binding,superfamily_SSF46785 - no_errors PRLHR 2834 genome.wustl.edu 36 10 120344602 120344602 + Missense_Mutation SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 10 120344602 120344602 G T SNP PRLHR NM_004248 human genbank 54_36p -1 validated missense c.145 p.P49T 0.046 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 LOC647954 647954 genome.wustl.edu 36 5 122765708 122765708 + RNA SNP C C A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 5 122765708 122765708 C A SNP LOC647954 XR_038441 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene CASR 846 genome.wustl.edu 36 3 123485245 123485245 + Missense_Mutation SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 3 123485245 123485245 G T SNP CASR NM_000388 human genbank 54_36p +1 reviewed missense c.1754 p.C585F 1.000 HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2 superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3 - no_errors C7orf45 136263 genome.wustl.edu 36 7 129643203 129643203 + Missense_Mutation SNP G A A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 7 129643203 129643203 G A SNP C7orf45 NM_145268 human genbank 54_36p +1 validated missense c.392 p.R131H 0.009 NULL NULL - no_errors PLXNA4 91584 genome.wustl.edu 36 7 131520664 131520664 + Missense_Mutation SNP T T A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 7 131520664 131520664 T A SNP PLXNA4 NM_020911 human genbank 54_36p -1 validated missense c.3092 p.D1031V 1.000 superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat,HMMSmart_SM00429,superfamily_E set domains,HMMPfam_TIG,HMMPfam_Plexin_cytopl,superfamily_GTPase activation domain GAP - no_errors CTGF 1490 genome.wustl.edu 36 6 132312240 132312240 + Missense_Mutation SNP C C A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 6 132312240 132312240 C A SNP CTGF NM_001901 human genbank 54_36p -1 validated missense c.907 p.V303L 0.995 HMMPfam_Cys_knot,HMMSmart_SM00041,PatternScan_CTCK_1 HMMSmart_SM00121,HMMPfam_IGFBP,PatternScan_IGFBP_N_1,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_Cys_knot,HMMSmart_SM00041,PatternScan_CTCK_1 - no_errors NUP214 8021 genome.wustl.edu 36 9 132992896 132992896 + Silent SNP A A G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 9 132992896 132992896 A G SNP NUP214 NM_005085 human genbank 54_36p +1 reviewed silent c.210 p.Q70 0.977 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320 - no_errors LRRTM2 26045 genome.wustl.edu 36 5 138237435 138237435 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 5 138237435 138237435 C T SNP LRRTM2 NM_015564 human genbank 54_36p -1 validated nonsense c.714 p.W238* 1.000 superfamily_L domain-like,HMMSmart_SM00369 superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1 - no_errors KIAA0141 9812 genome.wustl.edu 36 5 141298318 141298318 + Missense_Mutation SNP G G A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 5 141298318 141298318 G A SNP KIAA0141 NM_014773 human genbank 54_36p +1 validated missense c.1358 p.S453N 1.000 NULL superfamily_SSF81901,HMMSmart_SEL1,HMMPfam_Sel1 - no_errors GJA8 2703 genome.wustl.edu 36 1 145846940 145846940 + Missense_Mutation SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 1 145846940 145846940 G T SNP GJA8 NM_005267 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,HMMPfam_Connexin50 - no_errors NCAPG2 54892 genome.wustl.edu 36 7 158165496 158165496 + Missense_Mutation SNP C C T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 7 158165496 158165496 C T SNP NCAPG2 NM_017760 human genbank 54_36p -1 validated missense c.1063 p.V355I 1.000 superfamily_ARM repeat superfamily_ARM repeat - no_errors FNIP2 0 genome.wustl.edu 36 4 160009832 160009832 + Missense_Mutation SNP T T G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 4 160009832 160009832 T G SNP FNIP2 NM_020840 human genbank 54_36p +1 validated missense c.2594 p.V865G 0.000 NULL NULL - no_errors SLC4A10 57282 genome.wustl.edu 36 2 162427761 162427761 + Missense_Mutation SNP C C A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 2 162427761 162427761 C A SNP SLC4A10 NM_022058 human genbank 54_36p +1 validated missense c.709 p.R237S 1.000 superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp,PatternScan_HTH_ARAC_FAMILY_1 - no_errors SCN7A 6332 genome.wustl.edu 36 2 166977825 166977825 + Missense_Mutation SNP G G A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 2 166977825 166977825 G A SNP SCN7A NM_002976 human genbank 54_36p -1 validated missense c.3467 p.A1156V 0.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc - no_errors C4orf27 54969 genome.wustl.edu 36 4 170908397 170908397 + Missense_Mutation SNP G G C novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 4 170908397 170908397 G C SNP C4orf27 NM_017867 human genbank 54_36p -1 validated missense c.263 p.A88G 1.000 HMMPfam_DUF2228 HMMPfam_DUF2228 - no_errors TNFSF4 7292 genome.wustl.edu 36 1 171422428 171422428 + Silent SNP A A G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 1 171422428 171422428 A G SNP TNFSF4 NM_003326 human genbank 54_36p -1 reviewed silent c.402 p.S134 0.000 HMMSmart_SM00207,HMMPfam_TNF,superfamily_TNF-like HMMSmart_SM00207,HMMPfam_TNF,superfamily_TNF-like,PatternScan_TNF_1 - no_errors WIPF1 7456 genome.wustl.edu 36 2 175145360 175145360 + Missense_Mutation SNP G G T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 2 175145360 175145360 G T SNP WIPF1 NM_001077269 human genbank 54_36p -1 reviewed missense c.419 p.P140H 0.998 NULL HMMPfam_WH2,HMMSmart_SM00246 - no_errors SMG7 9887 genome.wustl.edu 36 1 181781995 181781995 + Missense_Mutation SNP G G A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 1 181781995 181781995 G A SNP SMG7 NM_173156 human genbank 54_36p +1 validated missense c.2642 p.R881K 0.099 NULL HMMPfam_EST1,superfamily_TPR-like - no_errors HMCN1 83872 genome.wustl.edu 36 1 184350681 184350681 + Missense_Mutation SNP G G A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 1 184350681 184350681 G A SNP HMCN1 NM_031935 human genbank 54_36p +1 reviewed missense c.11384 p.R3795Q 1.000 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409 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 PGAP1 80055 genome.wustl.edu 36 2 197466115 197466115 + Missense_Mutation SNP A A T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 2 197466115 197466115 A T SNP PGAP1 NM_024989 human genbank 54_36p -1 validated missense c.1027 p.L343I 0.993 NULL HMMPfam_PGAP1,superfamily_alpha/beta-Hydrolases - no_errors LOC729366 729366 genome.wustl.edu 36 2 206992296 206992296 + RNA SNP A A T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 2 206992296 206992296 A T SNP LOC729366 XR_015958 human genbank 54_36p -1 model rna NULL NULL 0.945 - - - pseudogene DYTN 0 genome.wustl.edu 36 2 207224852 207224852 + Missense_Mutation SNP C C G novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 2 207224852 207224852 C G SNP DYTN NM_001093730 human genbank 54_36p -1 provisional missense c.1672 p.A558P 0.497 NULL HMMPfam_efhand_1,superfamily_SSF47473,HMMPfam_efhand_2,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1 - no_errors COL6A3 1293 genome.wustl.edu 36 2 237954833 237954833 + Missense_Mutation SNP G G A novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 2 237954833 237954833 G A SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed missense c.1361 p.S454F 0.245 HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1 - no_errors EMG1 10436 genome.wustl.edu 36 12 6954707 6954709 + In_Frame_Del DEL CTT CTT - novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 CTT CTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 12 6954707 6954709 CTT - DEL EMG1 ENST00000261406 human ensembl 54_36p +1 known in_frame_del c.524_526 p.S176in_frame_del 1.000:0.978:1.000 HMMPfam_EMG1 HMMPfam_EMG1 (deletion:cds_exon[6954652,6954801]) no_errors TP53 7157 genome.wustl.edu 36 17 7518283 7518283 + Frame_Shift_Del DEL G G - novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 17 7518283 7518283 G - DEL TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_del c.723 p.C242fs 1.000 HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53 HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain (deletion:cds_exon[7518224,7518333]) no_errors APEX1 328 genome.wustl.edu 36 14 19995417 19995418 + Frame_Shift_Del DEL CT CT - novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 CT CT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 14 19995417 19995418 CT - DEL APEX1 NM_001641 human genbank 54_36p +1 reviewed frame_shift_del c.867_868 p.L291fs 0.000:0.084 superfamily_DNase I-like,HMMPfam_Exo_endo_phos superfamily_DNase I-like,HMMPfam_Exo_endo_phos,PatternScan_AP_NUCLEASE_F1_1,PatternScan_AP_NUCLEASE_F1_2,PatternScan_AP_NUCLEASE_F1_3 (deletion:cds_exon[19994990,19995507]) no_errors CDC25A 993 genome.wustl.edu 36 3 48182184 48182209 + Frame_Shift_Del DEL CTCTTTAATGAGGTTGGCAAACTTGC CTCTTTAATGAGGTTGGCAAACTTGC - novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 CTCTTTAATGAGGTTGGCAAACTTGC CTCTTTAATGAGGTTGGCAAACTTGC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 3 48182184 48182209 CTCTTTAATGAGGTTGGCAAACTTGC - DEL CDC25A NM_001789 human genbank 54_36p -1 reviewed frame_shift_del c.1137_1112 p.G371fs 0.979:0.991:0.994:0.994:1.000:1.000:0.999:1.000:0.992:0.738:0.736:0.629:0.420:0.388:0.390:0.443:0.651:0.665:0.938:0.999:1.000:1.000:1.000:0.998:0.991:0.993 superfamily_Rhodanese/Cell cycle control phosphatase,HMMSmart_SM00450,HMMPfam_Rhodanese HMMPfam_M-inducer_phosp,superfamily_Rhodanese/Cell cycle control phosphatase,HMMSmart_SM00450,HMMPfam_Rhodanese (deletion:cds_exon[48182130,48182228]) no_errors FLJ39080 441355 genome.wustl.edu 36 8 75827250 75827250 + Frame_Shift_Del DEL A A - novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 8 75827250 75827250 A - DEL FLJ39080 XM_499117 human genbank 54_36p +1 model frame_shift_del c.248 p.H83fs 0.024 NULL NULL (deletion:cds_exon[75827231,75827308]) no_errors ADAM6 8755 genome.wustl.edu 36 14 105508082 105508119 + RNA DEL CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA - novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 14 105508082 105508119 CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA - DEL ADAM6 NR_002224 human genbank 54_36p -1 provisional rna NULL NULL 0.000:0.002:0.001:0.001:0.000:0.002:0.003:0.002:0.001:0.000:0.002:0.002:0.001:0.000:0.001:0.002:0.002:0.002:0.002:0.004:0.004:0.005:0.004:0.004:0.003:0.001:0.000:0.000:0.000:0.002:0.003:0.001:0.000:0.000:0.000:0.004:0.000:0.000 - - (deletion:rna[105506864,105508128]) pseudogene SDS 10993 genome.wustl.edu 36 12 112315170 112315200 + Frame_Shift_Del DEL GCGCCCGCAGCTGGGCCAGGCTGATGTTGCT GCGCCCGCAGCTGGGCCAGGCTGATGTTGCT - novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 GCGCCCGCAGCTGGGCCAGGCTGATGTTGCT GCGCCCGCAGCTGGGCCAGGCTGATGTTGCT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 12 112315170 112315200 GCGCCCGCAGCTGGGCCAGGCTGATGTTGCT - DEL SDS NM_006843 human genbank 54_36p -1 reviewed frame_shift_del c.946_916 p.N307fs 0.978:0.156:0.161:0.178:0.186:0.161:0.257:0.347:0.992:1.000:1.000:0.996:0.946:0.740:0.791:0.876:0.912:0.926:0.921:0.987:0.990:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_PyrdxlP-dep_enz_bsu superfamily_PyrdxlP-dep_enz_bsu,HMMPfam_PALP,PatternScan_DEHYDRATASE_SER_THR (deletion:cds_exon[112315129,112315337]) no_errors ENSG00000209231 0 genome.wustl.edu 36 4 123228212 123228226 + RNA DEL TCTGACCTGGGCCAG TCTGACCTGGGCCAG - novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 TCTGACCTGGGCCAG TCTGACCTGGGCCAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 4 123228212 123228226 TCTGACCTGGGCCAG - DEL ENSG00000209231 ENST00000386496 human ensembl 54_36p -1 novel rna NULL NULL 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - (deletion:rna[123228118,123228416]) pseudogene LOC730085 730085 genome.wustl.edu 36 2 132778692 132778693 + Splice_Site INS - - T novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 2 132778692 132778693 - T INS LOC730085 XM_001132335 human genbank 54_36p -1 model splice_site_ins c.107+1_107+1 e1+1 0.003:0.006 - - - no_errors TBC1D9 23158 genome.wustl.edu 36 4 141819708 141819714 + Frame_Shift_Del DEL TGCTCAC TGCTCAC - novel unknown TCGA-29-1781-01A-01W-0633-09 TCGA-29-1781-10A-01W-0634-09 TGCTCAC TGCTCAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f3b7334f-80de-4485-8457-953d995beda5 07e9e4e5-441f-4b26-9beb-ca5c5f1ad74f 4 141819708 141819714 TGCTCAC - DEL TBC1D9 NM_015130 human genbank 54_36p -1 validated frame_shift_del c.689_683 p.S228fs 0.997:0.998:0.962:0.999:0.998:0.966:0.997 NULL HMMPfam_GRAM,HMMSmart_SM00568,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164,superfamily_EF-hand (deletion:cds_exon[141819546,141819807]) no_errors