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 MT-CO3 4514 genome.wustl.edu 36 MT 8539 8539 + Missense_Mutation SNP T T C novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 MT 8539 8539 T C SNP MT-CO3 ENST00000361851 human ensembl 54_36p +1 known missense c.173 p.I58T NULL NULL HMMPfam_ATP-synt_8 - no_errors MT-ND5 4540 genome.wustl.edu 36 MT 12614 12614 + Missense_Mutation SNP G G A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 MT 12614 12614 G A SNP MT-ND5 ENST00000361567 human ensembl 54_36p +1 known missense c.277 p.A93T NULL HMMPfam_Oxidored_q1_N HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C - no_errors MXRA5 25878 genome.wustl.edu 36 X 3245591 3245591 + Missense_Mutation SNP G G A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 X 3245591 3245591 G A SNP MXRA5 NM_015419 human genbank 54_36p -1 validated missense c.6131 p.A2044V 0.930 superfamily_Immunoglobulin HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set - no_errors PPL 5493 genome.wustl.edu 36 16 4875527 4875527 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 16 4875527 4875527 C A SNP PPL NM_002705 human genbank 54_36p -1 reviewed nonsense c.3130 p.E1044* 0.977 NULL HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin - no_errors OR2AG1 144125 genome.wustl.edu 36 11 6763073 6763073 + Missense_Mutation SNP G G A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 11 6763073 6763073 G A SNP OR2AG1 NM_001004489 human genbank 54_36p +1 provisional missense c.229 p.V77I 0.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors CHD3 1107 genome.wustl.edu 36 17 7737329 7737329 + Missense_Mutation SNP G G T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 17 7737329 7737329 G T SNP CHD3 NM_001005271 human genbank 54_36p +1 reviewed missense c.645 p.R215S 1.000 HMMPfam_CHDNT HMMPfam_CHDNT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00298,superfamily_Chromo domain-like,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_CHROMO_1,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_DUF1087,HMMPfam_DUF1086,HMMPfam_CHDCT2 - no_errors LRP6 4040 genome.wustl.edu 36 12 12195078 12195078 + Missense_Mutation SNP G G C novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 12 12195078 12195078 G C SNP LRP6 NM_002336 human genbank 54_36p -1 validated missense c.2953 p.R985G 0.998 superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1 - no_errors LOC729057 729057 genome.wustl.edu 36 22 14503309 14503309 + RNA SNP C C T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 22 14503309 14503309 C T SNP LOC729057 XR_042044 human genbank 54_36p +1 model rna NULL NULL 0.995 - - - no_errors LRRC48 83450 genome.wustl.edu 36 17 17832018 17832018 + Missense_Mutation SNP G G A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 17 17832018 17832018 G A SNP LRRC48 NM_031294 human genbank 54_36p +1 validated missense c.325 p.V109M 1.000 superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365 superfamily_Outer arm dynein light chain 1,HMMSmart_SM00365,HMMPfam_LRR_1 - no_errors APOB 338 genome.wustl.edu 36 2 21112053 21112053 + Silent SNP G G A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 2 21112053 21112053 G A SNP APOB NM_000384 human genbank 54_36p -1 reviewed silent c.726 p.S242 0.998 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 LUZP1 7798 genome.wustl.edu 36 1 23291926 23291926 + Silent SNP T T G novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 1 23291926 23291926 T G SNP LUZP1 NM_033631 human genbank 54_36p -1 reviewed silent c.1416 p.S472 0.283 NULL HMMPfam_CortBP2 - no_errors DSG4 147409 genome.wustl.edu 36 18 27247446 27247446 + Missense_Mutation SNP C C A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 18 27247446 27247446 C A SNP DSG4 NM_177986 human genbank 54_36p +1 validated missense c.3013 p.Q1005K 0.999 NULL superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1 - no_errors LOC387646 387646 genome.wustl.edu 36 10 27574904 27574904 + RNA SNP C C G novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 10 27574904 27574904 C G SNP LOC387646 NR_003525 human genbank 54_36p -1 provisional rna NULL NULL 0.000 - - - pseudogene EPB41 2035 genome.wustl.edu 36 1 29264233 29264233 + Missense_Mutation SNP T T A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 1 29264233 29264233 T A SNP EPB41 NM_203343 human genbank 54_36p +1 validated missense c.1893 p.N631K 1.000 NULL HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C,HMMPfam_FA,HMMPfam_SAB,HMMPfam_4_1_CTD - no_errors CHN2 1124 genome.wustl.edu 36 7 29513497 29513497 + Missense_Mutation SNP G G C novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 7 29513497 29513497 G C SNP CHN2 NM_004067 human genbank 54_36p +1 reviewed missense c.1120 p.D374H 1.000 superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors MORC2 22880 genome.wustl.edu 36 22 29676425 29676425 + Missense_Mutation SNP C C T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 22 29676425 29676425 C T SNP MORC2 ENST00000397641 human ensembl 54_36p -1 known missense c.164 p.R55Q 0.994 superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,HMMPfam_zf-CW - no_errors HECTD1 25831 genome.wustl.edu 36 14 30674524 30674524 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 14 30674524 30674524 G A SNP HECTD1 NM_015382 human genbank 54_36p -1 validated nonsense c.3163 p.R1055* 1.000 NULL superfamily_ARM repeat,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Galactose-binding domain-like,HMMPfam_Sad1_UNC,HMMPfam_MIB_HERC2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors LCLAT1 0 genome.wustl.edu 36 2 30716977 30716977 + Missense_Mutation SNP G G C novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 2 30716977 30716977 G C SNP LCLAT1 NM_182551 human genbank 54_36p +1 validated missense c.1233 p.K411N 0.863 NULL superfamily_Glycerol-3-phosphate (1)-acyltransferase,HMMPfam_Acyltransferase,HMMSmart_SM00563 - no_errors uc001msu.1 0 genome.wustl.edu 36 11 31072182 31072182 + Silent SNP C C T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 11 31072182 31072182 C T SNP uc001msu.1 ENST00000342355 human ensembl 54_36p -1 known silent c.966 p.L322 1.000 superfamily_RicinB_like superfamily_RicinB_like - no_errors RECK 8434 genome.wustl.edu 36 9 36102346 36102346 + Nonsense_Mutation SNP C C T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 9 36102346 36102346 C T SNP RECK NM_021111 human genbank 54_36p +1 reviewed nonsense c.1933 p.Q645* 1.000 superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2,HMMSmart_SM00280,PatternScan_KAZAL superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2,HMMSmart_SM00280,PatternScan_KAZAL - no_errors LBA1 9881 genome.wustl.edu 36 3 36851386 36851386 + Missense_Mutation SNP T T A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 3 36851386 36851386 T A SNP LBA1 NM_014831 human genbank 54_36p -1 validated missense c.3752 p.Y1251F 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ADAM9 8754 genome.wustl.edu 36 8 39080285 39080285 + Missense_Mutation SNP C C T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 8 39080285 39080285 C T SNP ADAM9 NM_003816 human genbank 54_36p +1 reviewed missense c.2369 p.P790L 1.000 NULL "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,HMMPfam_EGF_2,PatternScan_EGF_2" - no_errors ITGA2B 3674 genome.wustl.edu 36 17 39809916 39809916 + Missense_Mutation SNP G G T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 17 39809916 39809916 G T SNP ITGA2B NM_000419 human genbank 54_36p -1 reviewed missense c.2254 p.L752M 0.958 HMMPfam_Integrin_alpha2,superfamily_Integrin domains superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors ZNF790 388536 genome.wustl.edu 36 19 42001483 42001483 + Missense_Mutation SNP C C T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 19 42001483 42001483 C T SNP ZNF790 NM_206894 human genbank 54_36p -1 validated missense c.1603 p.V535I 0.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355 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 NCOA3 8202 genome.wustl.edu 36 20 45698691 45698691 + Silent SNP C C T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 20 45698691 45698691 C T SNP NCOA3 NM_181659 human genbank 54_36p +1 reviewed silent c.2154 p.D718 0.254 NULL superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_PAS,HMMSmart_SM00091,superfamily_PYP-like sensor domain (PAS domain),HMMPfam_SRC-1,superfamily_Nuclear receptor coactivator interlocking domain,HMMPfam_Nuc_rec_co-act,HMMPfam_DUF1518 - no_errors C10orf71 118461 genome.wustl.edu 36 10 50201009 50201009 + Missense_Mutation SNP A A G novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 10 50201009 50201009 A G SNP C10orf71 NM_199459 human genbank 54_36p +1 validated missense c.413 p.K138R 0.768 NULL NULL - no_errors ATP8B1 5205 genome.wustl.edu 36 18 53489802 53489802 + Missense_Mutation SNP G G C novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 18 53489802 53489802 G C SNP ATP8B1 NM_005603 human genbank 54_36p -1 reviewed missense c.1828 p.P610A 1.000 superfamily_SSF81665,superfamily_SSF56784,superfamily_SSF81660 superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660 - no_errors OR4S2 219431 genome.wustl.edu 36 11 55175090 55175090 + Silent SNP G G T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 11 55175090 55175090 G T SNP OR4S2 NM_001004059 human genbank 54_36p +1 validated silent c.135 p.L45 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 DCTN2 10540 genome.wustl.edu 36 12 56215132 56215132 + Missense_Mutation SNP G G T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 12 56215132 56215132 G T SNP DCTN2 NM_006400 human genbank 54_36p -1 reviewed missense c.352 p.L118M 1.000 HMMPfam_Dynamitin HMMPfam_Dynamitin - no_errors DST 667 genome.wustl.edu 36 6 56431859 56431859 + Missense_Mutation SNP C C T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 6 56431859 56431859 C T SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.16397 p.R5466Q 1.000 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_SM00243 - no_errors GCNT3 9245 genome.wustl.edu 36 15 57697870 57697870 + Silent SNP T T C novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 15 57697870 57697870 T C SNP GCNT3 NM_004751 human genbank 54_36p +1 reviewed silent c.141 p.S47 0.000 NULL HMMPfam_Branch - no_errors ZFHX3 463 genome.wustl.edu 36 16 71385713 71385713 + Missense_Mutation SNP T T A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 16 71385713 71385713 T A SNP ZFHX3 NM_006885 human genbank 54_36p -1 validated missense c.8369 p.K2790I 1.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2,HMMSmart_SM00451,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors CNTNAP4 85445 genome.wustl.edu 36 16 75129546 75129546 + Missense_Mutation SNP G G A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 16 75129546 75129546 G A SNP CNTNAP4 NM_138994 human genbank 54_36p +1 validated missense c.2809 p.V937M 1.000 superfamily_Concanavalin A-like lectins/glucanases HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,superfamily_Fibrinogen C-terminal domain-like - no_errors LMO7 4008 genome.wustl.edu 36 13 75293517 75293517 + Missense_Mutation SNP G G A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 13 75293517 75293517 G A SNP LMO7 NM_005358 human genbank 54_36p +1 reviewed missense c.1565 p.R522H 0.000 NULL superfamily_Calponin-homology,HMMSmart_CH,HMMPfam_CH,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM - no_errors WDR61 80349 genome.wustl.edu 36 15 76362919 76362919 + Splice_Site SNP C C T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 15 76362919 76362919 C T SNP WDR61 NM_025234 human genbank 54_36p -1 provisional splice_site c.829-1 e10-1 1.000 - - - no_errors GDPD4 220032 genome.wustl.edu 36 11 76617841 76617841 + Splice_Site SNP A A C novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 11 76617841 76617841 A C SNP GDPD4 NM_182833 human genbank 54_36p -1 provisional splice_site c.1472+2 e13+2 1.000 - - - no_errors AQP11 282679 genome.wustl.edu 36 11 76979130 76979130 + Missense_Mutation SNP A A G novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 11 76979130 76979130 A G SNP AQP11 NM_173039 human genbank 54_36p +1 provisional missense c.445 p.S149G 0.072 superfamily_MIP PatternScan_MIP,superfamily_MIP - no_errors LRIT2 340745 genome.wustl.edu 36 10 85972159 85972159 + Missense_Mutation SNP C C G novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 10 85972159 85972159 C G SNP LRIT2 NM_001017924 human genbank 54_36p -1 validated missense c.1150 p.A384P 0.030 NULL HMMPfam_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2 - no_errors PDLIM1 9124 genome.wustl.edu 36 10 96997025 96997025 + Missense_Mutation SNP C C T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 10 96997025 96997025 C T SNP PDLIM1 NM_020992 human genbank 54_36p -1 provisional missense c.622 p.E208K 1.000 NULL HMMPfam_PDZ,superfamily_PDZ,HMMSmart_PDZ,HMMSmart_ZM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM - no_errors LOC643615 643615 genome.wustl.edu 36 2 97620049 97620049 + Missense_Mutation SNP G G T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 2 97620049 97620049 G T SNP LOC643615 XM_001714896 human genbank 54_36p -1 model missense c.658 p.L220I 0.087 superfamily_HMG-box superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box - no_errors CCDC53 51019 genome.wustl.edu 36 12 100957868 100957868 + Missense_Mutation SNP A A G novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 12 100957868 100957868 A G SNP CCDC53 ENST00000240079 human ensembl 54_36p -1 known missense c.343 p.S115P 1.000 HMMPfam_DUF2360 HMMPfam_DUF2360 - no_errors PKD2L1 9033 genome.wustl.edu 36 10 102046030 102046030 + Missense_Mutation SNP C C A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 10 102046030 102046030 C A SNP PKD2L1 NM_016112 human genbank 54_36p -1 reviewed missense c.1195 p.V399L 0.998 HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels - no_errors TAL2 6887 genome.wustl.edu 36 9 107464804 107464804 + Missense_Mutation SNP C C T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 9 107464804 107464804 C T SNP TAL2 NM_005421 human genbank 54_36p +1 reviewed missense c.206 p.A69V 0.001 superfamily_HLH_basic HMMPfam_HLH,superfamily_HLH_basic,HMMSmart_HLH - no_errors RANBP2 5903 genome.wustl.edu 36 2 108748202 108748202 + Missense_Mutation SNP G G T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 2 108748202 108748202 G T SNP RANBP2 NM_006267 human genbank 54_36p +1 reviewed missense c.4775 p.S1592I 0.514 NULL superfamily_SSF48452,HMMPfam_TPR_1,superfamily_SSF50729,HMMSmart_RanBD,HMMPfam_Ran_BP1,HMMPfam_zf-RanBP,HMMSmart_ZnF_RBZ,PatternScan_ZF_RANBP2_1,superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1 - no_errors OAS3 4940 genome.wustl.edu 36 12 111870278 111870278 + Missense_Mutation SNP G G C novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 12 111870278 111870278 G C SNP OAS3 NM_006187 human genbank 54_36p +1 reviewed missense c.1020 p.W340C 0.857 HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain superfamily_Nucleotidyltransferase,PatternScan_25A_SYNTH_1,HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain,PatternScan_25A_SYNTH_2,HMMPfam_NTP_transf_2 - no_errors NDST4 64579 genome.wustl.edu 36 4 116216680 116216680 + Missense_Mutation SNP T T A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 4 116216680 116216680 T A SNP NDST4 NM_022569 human genbank 54_36p -1 provisional missense c.962 p.N321I 1.000 NULL superfamily_SSF52540,HMMPfam_Sulfotransfer_1 - no_errors LRRC58 116064 genome.wustl.edu 36 3 121536445 121536445 + Silent SNP A A C novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 3 121536445 121536445 A C SNP LRRC58 NM_001099678 human genbank 54_36p -1 validated silent c.861 p.L287 0.998 superfamily_SSF52058 superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP - no_errors CPA2 1358 genome.wustl.edu 36 7 129716743 129716743 + Missense_Mutation SNP C C T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 7 129716743 129716743 C T SNP CPA2 NM_001869 human genbank 54_36p +1 reviewed missense c.1174 p.R392C 0.972 superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14 superfamily_Prot_inh_propept,HMMPfam_Propep_M14,superfamily_SSF53187,HMMSmart_Zn_pept,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_1,PatternScan_CARBOXYPEPT_ZN_2 - no_errors TG 7038 genome.wustl.edu 36 8 133968669 133968669 + Missense_Mutation SNP G G A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 8 133968669 133968669 G A SNP TG NM_003235 human genbank 54_36p +1 validated missense c.1870 p.G624R 1.000 HMMPfam_Thyroglobulin_1,superfamily_Thyroglobulin type-1 domain,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211 superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_TNF receptor-like,HMMPfam_GCC2_GCC3,HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2 - no_errors RAB3GAP1 22930 genome.wustl.edu 36 2 135627917 135627917 + Splice_Site SNP G G T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 2 135627917 135627917 G T SNP RAB3GAP1 NM_012233 human genbank 54_36p +1 validated splice_site c.2289+1 e19+1 1.000 - - - no_errors PCDHB3 56132 genome.wustl.edu 36 5 140462458 140462458 + Missense_Mutation SNP G G A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 5 140462458 140462458 G A SNP PCDHB3 NM_018937 human genbank 54_36p +1 reviewed missense c.2041 p.A681T 0.001 NULL HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors PCDHGA10 56106 genome.wustl.edu 36 5 140774714 140774714 + Silent SNP G G T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 5 140774714 140774714 G T SNP PCDHGA10 NM_018913 human genbank 54_36p +1 reviewed silent c.1788 p.V596 1.000 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors LOC646347 646347 genome.wustl.edu 36 1 159132539 159132539 + RNA SNP C C A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 1 159132539 159132539 C A SNP LOC646347 XR_017680 human genbank 54_36p +1 model rna NULL NULL 0.097 - - - pseudogene IGFN1 91156 genome.wustl.edu 36 1 199449361 199449361 + Missense_Mutation SNP A A G novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 1 199449361 199449361 A G SNP IGFN1 NM_178275 human genbank 54_36p +1 validated missense c.197 p.K66R 0.000 NULL HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_IGc2 - no_errors AGAP1 116987 genome.wustl.edu 36 2 236323761 236323761 + Missense_Mutation SNP G G A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 2 236323761 236323761 G A SNP AGAP1 NM_001037131 human genbank 54_36p +1 validated missense c.563 p.R188K 1.000 HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175 HMMSmart_SM00173,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Miro,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors COL6A3 1293 genome.wustl.edu 36 2 237939393 237939393 + Missense_Mutation SNP C C A novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 2 237939393 237939393 C A SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed missense c.5525 p.G1842V 0.996 superfamily_vWA-like,HMMSmart_SM00327 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 LOC645884 645884 genome.wustl.edu 36 1 238242796 238242796 + RNA SNP G G T novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 1 238242796 238242796 G T SNP LOC645884 XR_017475 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene TP53 7157 genome.wustl.edu 36 17 7519168 7519169 + Frame_Shift_Ins INS - - G novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 17 7519168 7519169 - G INS TP53 NM_000546 human genbank 54_36p -1 reviewed frame_shift_ins c.487_486 p.Y162fs 1.000:0.999 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors NF1 4763 genome.wustl.edu 36 17 26611488 26611516 + Splice_Site DEL TTCTAATGACTTTGCATTTTTGAAGGTTT TTCTAATGACTTTGCATTTTTGAAGGTTT - novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 TTCTAATGACTTTGCATTTTTGAAGGTTT TTCTAATGACTTTGCATTTTTGAAGGTTT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 17 26611488 26611516 TTCTAATGACTTTGCATTTTTGAAGGTTT - DEL NF1 NM_001042492 human genbank 54_36p +1 reviewed splice_site_del c.4431-25_4431-1 e34-1 0.487:0.544:0.584:0.651:0.695:0.697:0.680:0.621:0.617:0.639:0.872:0.871:0.714:0.283:0.299:0.592:0.806:0.850:0.860:0.730:0.448:0.345:0.438:1.000:1.000:1.000:1.000:1.000:1.000 - - (deletion:intron[26610274,26611512], cds_exon[26611513,26611659]) no_errors MS4A14 84689 genome.wustl.edu 36 11 59940401 59940408 + Frame_Shift_Del DEL TCAGAAGT TCAGAAGT - novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 TCAGAAGT TCAGAAGT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 11 59940401 59940408 TCAGAAGT - DEL MS4A14 NM_032597 human genbank 54_36p +1 validated frame_shift_del c.1384_1391 p.S462fs 0.538:0.858:0.888:0.947:0.949:0.946:0.937:0.797 NULL HMMPfam_CD20 (deletion:cds_exon[59939486,59941057]) no_errors TLN2 83660 genome.wustl.edu 36 15 60801869 60801887 + Frame_Shift_Del DEL CCAAAGCCGCAGTGCCCAC CCAAAGCCGCAGTGCCCAC - novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 CCAAAGCCGCAGTGCCCAC CCAAAGCCGCAGTGCCCAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 15 60801869 60801887 CCAAAGCCGCAGTGCCCAC - DEL TLN2 NM_015059 human genbank 54_36p +1 reviewed frame_shift_del c.3017_3035 p.K1007fs 1.000:0.997:1.000:1.000:1.000:1.000:0.996:0.237:0.299:0.336:0.068:0.997:1.000:0.993:1.000:1.000:0.986:0.998:0.994 superfamily_SSF109885 PatternScan_FERM_1,HMMSmart_B41,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,superfamily_Talin_cent,HMMPfam_Talin_middle,superfamily_SSF109885,HMMPfam_VBS,HMMSmart_ILWEQ,HMMPfam_I_LWEQ (deletion:cds_exon[60801844,60801978]) no_errors ENSG00000214434 0 genome.wustl.edu 36 15 88628885 88628886 + Splice_Site INS - - TTTG novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 15 88628885 88628886 - TTTG INS ENSG00000214434 ENST00000398317 human ensembl 54_36p -1 novel splice_site_ins c.NULL NULL 0.022:0.017 - - - no_coding_region:pseudogene ZHX1 11244 genome.wustl.edu 36 8 124336050 124336083 + Frame_Shift_Del DEL TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT - novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 8 124336050 124336083 TTTCTGCAGTAGGCTGAGCAGCAGGTACCTGACT - DEL ZHX1 NM_001017926 human genbank 54_36p -1 reviewed frame_shift_del c.1318_1285 p.S429fs 0.816:0.792:0.965:0.964:0.512:0.493:0.010:0.000:0.000:0.000:0.071:1.000:1.000:1.000:1.000:0.996:0.901:0.993:0.940:0.871:0.873:0.752:0.706:0.703:0.682:0.596:0.898:0.973:0.998:1.000:1.000:0.998:0.998:0.998 NULL PatternScan_ZINC_FINGER_C2H2_1,PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,HMMSmart_HOX,superfamily_Homeodomain_like,HMMPfam_Homeobox (deletion:cds_exon[124334746,124337367]) no_errors SF3B4 10262 genome.wustl.edu 36 1 148165719 148165720 + Frame_Shift_Ins INS - - GT novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 1 148165719 148165720 - GT INS SF3B4 NM_005850 human genbank 54_36p -1 reviewed frame_shift_ins c.126_125 p.H43fs 0.976:1.000 HMMSmart_RRM,superfamily_SSF54928,HMMPfam_RRM_1 HMMSmart_RRM,superfamily_SSF54928,HMMPfam_RRM_1 - no_errors RFWD2 64326 genome.wustl.edu 36 1 174225224 174225232 + In_Frame_Del DEL AGTGGACAC AGTGGACAC - novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 AGTGGACAC AGTGGACAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 1 174225224 174225232 AGTGGACAC - DEL RFWD2 NM_022457 human genbank 54_36p -1 validated in_frame_del c.1744_1736 p.CVH579in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 (deletion:cds_exon[174225121,174225238]) no_errors SP140 11262 genome.wustl.edu 36 2 230884096 230884113 + Splice_Site DEL GCCTCTTTCTTTTGCAGA GCCTCTTTCTTTTGCAGA - novel unknown TCGA-61-1895-01A-01W-0639-09 TCGA-61-1895-11A-01W-0639-09 GCCTCTTTCTTTTGCAGA GCCTCTTTCTTTTGCAGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 13b583b0-b80c-4a77-9170-78ab603b1c00 284bcfd0-a8f3-49e1-a9d6-e442ce603bf2 2 230884096 230884113 GCCTCTTTCTTTTGCAGA - DEL SP140 NM_007237 human genbank 54_36p +1 validated splice_site_del c.2284-17_2284-1 e25-1 0.002:0.002:0.004:0.011:0.083:0.288:0.526:0.787:0.867:0.937:0.959:0.980:0.986:0.993:0.998:1.000:1.000:1.000 - - (deletion:intron[230883811,230884112], cds_exon[230884113,230884190]) no_errors