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 LOC100130224 0 genome.wustl.edu 36 X 1495433 1495433 + Missense_Mutation SNP C C T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 X 1495433 1495433 C T SNP LOC100130224 XM_001713700 human genbank 54_36p -1 model missense c.1955 p.R652H 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon DCP1B 196513 genome.wustl.edu 36 12 1932089 1932089 + Silent SNP C C T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 12 1932089 1932089 C T SNP DCP1B NM_152640 human genbank 54_36p -1 validated silent c.1278 p.Q426 0.274 NULL HMMPfam_DCP1,superfamily_PH domain-like - no_errors OR2D3 120775 genome.wustl.edu 36 11 6899733 6899733 + Missense_Mutation SNP A A G novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 11 6899733 6899733 A G SNP OR2D3 NM_001004684 human genbank 54_36p +1 provisional missense c.925 p.R309G 0.995 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7517783 7517783 + Nonsense_Mutation SNP C C A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 17 7517783 7517783 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.880 p.E294* 0.009 NULL HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors LOC644517 644517 genome.wustl.edu 36 4 9313841 9313841 + RNA SNP A A C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 4 9313841 9313841 A C SNP LOC644517 XR_042369 human genbank 54_36p +1 model rna NULL NULL 0.029 - - - pseudogene LOC100132066 0 genome.wustl.edu 36 4 9314511 9314511 + Silent SNP C C T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 4 9314511 9314511 C T SNP LOC100132066 XM_001720916 human genbank 54_36p -1 model silent c.729 p.E243 1.000 superfamily_UDP-Glycosyltransferase/glycogen phosphorylase HMMPfam_Glycos_transf_1,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase - pseudogene MYH4 4622 genome.wustl.edu 36 17 10308564 10308564 + Missense_Mutation SNP C C A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 17 10308564 10308564 C A SNP MYH4 NM_017533 human genbank 54_36p -1 validated missense c.598 p.A200S 1.000 superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_Myosin_tail_1 - no_errors ARHGAP6 395 genome.wustl.edu 36 X 11070281 11070281 + Silent SNP T T A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 X 11070281 11070281 T A SNP ARHGAP6 NM_013427 human genbank 54_36p -1 reviewed silent c.2250 p.G750 1.000 NULL superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors LRP6 4040 genome.wustl.edu 36 12 12288695 12288695 + Nonsense_Mutation SNP C C A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 12 12288695 12288695 C A SNP LRP6 NM_002336 human genbank 54_36p -1 validated nonsense c.217 p.E73* 1.000 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 PODNL1 79883 genome.wustl.edu 36 19 13906201 13906201 + Missense_Mutation SNP G G T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 19 13906201 13906201 G T SNP PODNL1 NM_024825 human genbank 54_36p -1 provisional missense c.538 p.Q180K 1.000 superfamily_RNI-like,HMMSmart_SM00369,HMMPfam_LRR_1 superfamily_RNI-like,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like - no_errors COPB1 1315 genome.wustl.edu 36 11 14471808 14471808 + Missense_Mutation SNP G G C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 11 14471808 14471808 G C SNP COPB1 NM_016451 human genbank 54_36p -1 reviewed missense c.447 p.S149R 1.000 HMMPfam_Adaptin_N,superfamily_ARM-type_fold HMMPfam_Adaptin_N,superfamily_ARM-type_fold,HMMPfam_Coatamer_beta_C - no_errors CROCC 9696 genome.wustl.edu 36 1 17147545 17147545 + Missense_Mutation SNP G G C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 1 17147545 17147545 G C SNP CROCC NM_014675 human genbank 54_36p +1 validated missense c.2647 p.V883L 0.996 NULL superfamily_Prefoldin - no_errors KLHL22 84861 genome.wustl.edu 36 22 19149202 19149202 + Missense_Mutation SNP T T A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 22 19149202 19149202 T A SNP KLHL22 NM_032775 human genbank 54_36p -1 validated missense c.1055 p.Y352F 1.000 superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612 superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1 - no_errors SLC47A1 55244 genome.wustl.edu 36 17 19395369 19395369 + Missense_Mutation SNP A A T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 17 19395369 19395369 A T SNP SLC47A1 NM_018242 human genbank 54_36p +1 validated missense c.539 p.N180I 1.000 HMMPfam_MatE HMMPfam_MatE - no_errors PLK1 5347 genome.wustl.edu 36 16 23608357 23608357 + Missense_Mutation SNP C C G novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 16 23608357 23608357 C G SNP PLK1 NM_005030 human genbank 54_36p +1 provisional missense c.1467 p.H489Q 0.997 superfamily_SSF82615 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SSF82615,HMMPfam_POLO_box - no_errors UNC119 9094 genome.wustl.edu 36 17 23899243 23899243 + Missense_Mutation SNP C C A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 17 23899243 23899243 C A SNP UNC119 NM_005148 human genbank 54_36p -1 validated missense c.338 p.R113L 1.000 superfamily_E set domains,HMMPfam_GMP_PDE_delta superfamily_E set domains,HMMPfam_GMP_PDE_delta - no_errors ZKSCAN2 342357 genome.wustl.edu 36 16 25171769 25171769 + Missense_Mutation SNP T T C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 16 25171769 25171769 T C SNP ZKSCAN2 NM_001012981 human genbank 54_36p -1 validated missense c.677 p.Q226R 0.993 superfamily_KRAB domain (Kruppel-associated box Pfam 01352) 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 LOC646278 646278 genome.wustl.edu 36 15 26851126 26851126 + Splice_Site SNP G G T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 15 26851126 26851126 G T SNP LOC646278 XR_042308 human genbank 54_36p +1 model splice_site c.NULL NULL 0.997 - - - pseudogene HOXA1 3198 genome.wustl.edu 36 7 27101626 27101626 + Missense_Mutation SNP T T A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 7 27101626 27101626 T A SNP HOXA1 NM_005522 human genbank 54_36p -1 reviewed missense c.431 p.H144L 1.000 NULL superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors CAD 790 genome.wustl.edu 36 2 27318706 27318706 + Silent SNP C C T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 2 27318706 27318706 C T SNP CAD NM_004341 human genbank 54_36p +1 reviewed silent c.6129 p.I2043 1.000 superfamily_Asp/Orn_carbamoyltranf,HMMPfam_OTCace_N superfamily_CP_synthsmall,HMMPfam_CPSase_sm_chain,superfamily_SSF52317,HMMPfam_GATase,superfamily_PreATP-grasp-like,HMMPfam_CPSase_L_chain,HMMPfam_CPSase_L_D2,superfamily_SSF56059,PatternScan_CPSASE_1,PatternScan_CPSASE_2,superfamily_CarbamoylP_synth_lsu_oligo,HMMPfam_CPSase_L_D3,superfamily_SSF52335,HMMPfam_MGS,HMMPfam_Amidohydro_1,superfamily_SSF51556,PatternScan_DIHYDROOROTASE_1,PatternScan_DIHYDROOROTASE_2,superfamily_Metalo_hydrolase,superfamily_Asp/Orn_carbamoyltranf,HMMPfam_OTCace_N,PatternScan_CARBAMOYLTRANSFERASE,HMMPfam_OTCace - no_errors PPFIBP1 8496 genome.wustl.edu 36 12 27699005 27699005 + Silent SNP A A G novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 12 27699005 27699005 A G SNP PPFIBP1 NM_003622 human genbank 54_36p +1 reviewed silent c.687 p.K229 0.994 HMMPfam_Integrase_DNA HMMPfam_Integrase_DNA,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1,HMMPfam_SAM_2 - no_errors SKIV2L 6499 genome.wustl.edu 36 6 32036013 32036013 + Missense_Mutation SNP G G T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 6 32036013 32036013 G T SNP SKIV2L NM_006929 human genbank 54_36p +1 reviewed missense c.274 p.A92S 0.039 NULL superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DSHCT - no_errors ADAMTS12 81792 genome.wustl.edu 36 5 33612806 33612806 + Missense_Mutation SNP T T C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 5 33612806 33612806 T C SNP ADAMTS12 NM_030955 human genbank 54_36p -1 reviewed missense c.3082 p.R1028G 0.001 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors SLC1A3 6507 genome.wustl.edu 36 5 36665332 36665332 + Nonsense_Mutation SNP C C T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 5 36665332 36665332 C T SNP SLC1A3 NM_004172 human genbank 54_36p +1 validated nonsense c.205 p.R69* 1.000 HMMPfam_SDF HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2 - no_errors JUP 3728 genome.wustl.edu 36 17 37168602 37168602 + Missense_Mutation SNP T T G novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 17 37168602 37168602 T G SNP JUP NM_002230 human genbank 54_36p -1 reviewed missense c.1544 p.H515P 1.000 superfamily_ARM-type_fold,HMMSmart_ARM superfamily_ARM-type_fold,HMMSmart_ARM,HMMPfam_HEAT,HMMPfam_Arm - no_errors EGFLAM 133584 genome.wustl.edu 36 5 38373469 38373469 + Missense_Mutation SNP G G C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 5 38373469 38373469 G C SNP EGFLAM NM_152403 human genbank 54_36p +1 validated missense c.188 p.S63T 0.003 superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMSmart_EGF,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,HMMSmart_LamG,HMMPfam_Laminin_G_1,HMMPfam_EGF,PatternScan_EGF_2,HMMPfam_Laminin_G_2 - no_errors LOC391334 391334 genome.wustl.edu 36 22 39800477 39800477 + RNA SNP C C A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 22 39800477 39800477 C A SNP LOC391334 XR_017601 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene C1QL1 10882 genome.wustl.edu 36 17 40393109 40393109 + Missense_Mutation SNP G G C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 17 40393109 40393109 G C SNP C1QL1 NM_006688 human genbank 54_36p -1 provisional missense c.750 p.F250L 1.000 HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q HMMPfam_Collagen,HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q - no_errors COL9A2 1298 genome.wustl.edu 36 1 40549803 40549803 + Missense_Mutation SNP G G A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 1 40549803 40549803 G A SNP COL9A2 NM_001852 human genbank 54_36p -1 reviewed missense c.475 p.R159C 1.000 HMMPfam_Collagen HMMPfam_Collagen - no_errors FGF10 2255 genome.wustl.edu 36 5 44340920 44340920 + Silent SNP C C T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 5 44340920 44340920 C T SNP FGF10 NM_004465 human genbank 54_36p -1 reviewed silent c.561 p.R187 1.000 superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF,PatternScan_HBGF_FGF - no_errors ZNFX1 57169 genome.wustl.edu 36 20 47320494 47320494 + Missense_Mutation SNP C C T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 20 47320494 47320494 C T SNP ZNFX1 NM_021035 human genbank 54_36p -1 validated missense c.1262 p.C421Y 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_zf-NF-X1,HMMSmart_SM00438 - no_errors NEK4 6787 genome.wustl.edu 36 3 52746650 52746650 + Missense_Mutation SNP C C T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 3 52746650 52746650 C T SNP NEK4 NM_003157 human genbank 54_36p -1 validated missense c.2425 p.D809N 0.663 NULL HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors OR5D18 219438 genome.wustl.edu 36 11 55344115 55344115 + Missense_Mutation SNP T T C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 11 55344115 55344115 T C SNP OR5D18 NM_001001952 human genbank 54_36p +1 provisional missense c.434 p.L145P 0.013 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors LOC648217 648217 genome.wustl.edu 36 19 57338199 57338199 + Missense_Mutation SNP A A T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 19 57338199 57338199 A T SNP LOC648217 XM_496319 human genbank 54_36p +1 model missense c.92 p.K31M 1.000 superfamily_Zn-binding ribosomal proteins,HMMPfam_Ribosomal_L37e superfamily_Zn-binding ribosomal proteins,HMMPfam_Ribosomal_L37e - pseudogene LOC284167 284167 genome.wustl.edu 36 17 57569499 57569499 + RNA SNP T T C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 17 57569499 57569499 T C SNP LOC284167 XR_017049 human genbank 54_36p -1 model rna NULL NULL 0.300 - - - pseudogene SLCO4A1 28231 genome.wustl.edu 36 20 60769867 60769867 + Missense_Mutation SNP C C G novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 20 60769867 60769867 C G SNP SLCO4A1 NM_016354 human genbank 54_36p +1 validated missense c.1697 p.T566S 0.110 HMMPfam_OATP,superfamily_MFS general substrate transporter HMMPfam_OATP,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2 - no_errors PRIC285 85441 genome.wustl.edu 36 20 61661079 61661079 + Missense_Mutation SNP C C A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 20 61661079 61661079 C A SNP PRIC285 NM_001037335 human genbank 54_36p -1 reviewed missense c.7914 p.Q2638H 0.008 NULL PatternScan_ZINC_FINGER_C2H2_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_RNB,PatternScan_RIBONUCLEASE_II - no_errors ABCA6 23460 genome.wustl.edu 36 17 64645092 64645092 + Missense_Mutation SNP G G T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 17 64645092 64645092 G T SNP ABCA6 NM_080284 human genbank 54_36p -1 reviewed missense c.241 p.P81T 0.444 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran - no_errors ARMC1 55156 genome.wustl.edu 36 8 66688165 66688165 + Missense_Mutation SNP C C A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 8 66688165 66688165 C A SNP ARMC1 NM_018120 human genbank 54_36p -1 provisional missense c.333 p.Q111H 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold,HMMPfam_Arm,superfamily_HeavyMe_transpt - no_errors NETO1 81832 genome.wustl.edu 36 18 68568436 68568436 + Missense_Mutation SNP T T A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 18 68568436 68568436 T A SNP NETO1 NM_138966 human genbank 54_36p -1 reviewed missense c.1382 p.Q461L 1.000 NULL superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1 - no_errors DNAJB13 374407 genome.wustl.edu 36 11 73357057 73357057 + Missense_Mutation SNP C C T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 11 73357057 73357057 C T SNP DNAJB13 NM_153614 human genbank 54_36p +1 provisional missense c.626 p.A209V 0.996 superfamily_HSP40/DnaJ peptide-binding domain,HMMPfam_DnaJ_C superfamily_Chaperone J-domain,HMMSmart_SM00271,HMMPfam_DnaJ,PatternScan_DNAJ_1,superfamily_HSP40/DnaJ peptide-binding domain,HMMPfam_DnaJ_C - no_errors KCNC2 3747 genome.wustl.edu 36 12 73723184 73723184 + Missense_Mutation SNP G G A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 12 73723184 73723184 G A SNP KCNC2 NM_139137 human genbank 54_36p -1 reviewed missense c.1885 p.R629C 1.000 NULL superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors SLCO2B1 11309 genome.wustl.edu 36 11 74585234 74585234 + Silent SNP A A T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 11 74585234 74585234 A T SNP SLCO2B1 NM_007256 human genbank 54_36p +1 validated silent c.1461 p.P487 0.077 superfamily_MFS general substrate transporter,HMMPfam_OATP superfamily_MFS general substrate transporter,HMMPfam_OATP - no_errors HSPB1 3315 genome.wustl.edu 36 7 75769994 75769994 + Missense_Mutation SNP T T A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 7 75769994 75769994 T A SNP HSPB1 NM_001540 human genbank 54_36p +1 reviewed missense c.29 p.L10H 1.000 superfamily_HSP20-like chaperones superfamily_HSP20-like chaperones,HMMPfam_HSP20 - no_errors LOC642677 642677 genome.wustl.edu 36 15 82513442 82513442 + RNA SNP G G T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 15 82513442 82513442 G T SNP LOC642677 XR_036878 human genbank 54_36p -1 model rna NULL NULL 0.087 - - - pseudogene ANKRD1 27063 genome.wustl.edu 36 10 92669943 92669943 + Missense_Mutation SNP T T A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 10 92669943 92669943 T A SNP ANKRD1 NM_014391 human genbank 54_36p -1 reviewed missense c.170 p.E57V 0.001 superfamily_ANK superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK - no_errors ADAMTS17 170691 genome.wustl.edu 36 15 98355279 98355279 + Missense_Mutation SNP C C A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 15 98355279 98355279 C A SNP ADAMTS17 NM_139057 human genbank 54_36p -1 reviewed missense c.2630 p.C877F 1.000 superfamily_TSP-1 type 1 repeat,HMMPfam_TSP_1,HMMSmart_SM00209 "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_PLAC" - no_errors DYNC1H1 1778 genome.wustl.edu 36 14 101553238 101553238 + Missense_Mutation SNP C C G novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 14 101553238 101553238 C G SNP DYNC1H1 NM_001376 human genbank 54_36p +1 reviewed missense c.7909 p.H2637D 1.000 superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5 HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors PPRC1 23082 genome.wustl.edu 36 10 103889788 103889788 + Missense_Mutation SNP G G T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 10 103889788 103889788 G T SNP PPRC1 NM_015062 human genbank 54_36p +1 reviewed missense c.1533 p.E511D 0.039 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors CYLC2 1539 genome.wustl.edu 36 9 104807777 104807777 + Missense_Mutation SNP A A T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 9 104807777 104807777 A T SNP CYLC2 NM_001340 human genbank 54_36p +1 reviewed missense c.1043 p.K348M 0.031 NULL NULL - no_errors LRP12 29967 genome.wustl.edu 36 8 105580834 105580834 + Missense_Mutation SNP G G T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 8 105580834 105580834 G T SNP LRP12 NM_013437 human genbank 54_36p -1 reviewed missense c.362 p.A121D 0.881 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1 - no_errors BBX 56987 genome.wustl.edu 36 3 108918217 108918217 + Missense_Mutation SNP G G A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 3 108918217 108918217 G A SNP BBX NM_020235 human genbank 54_36p +1 validated missense c.236 p.R79Q 1.000 superfamily_HMG-box,HMMSmart_HMG superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box,HMMPfam_DUF2028 - no_errors SORT1 6272 genome.wustl.edu 36 1 109686167 109686167 + Missense_Mutation SNP T T C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 1 109686167 109686167 T C SNP SORT1 NM_002959 human genbank 54_36p -1 reviewed missense c.1100 p.E367G 1.000 superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602 superfamily_Oligoxyloglucan reducing end-specific cellobiohydrolase,HMMSmart_SM00602,PatternScan_HEMOCYANIN_2 - no_errors LOC441034 441034 genome.wustl.edu 36 4 113929250 113929250 + RNA SNP A A T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 4 113929250 113929250 A T SNP LOC441034 XR_016809 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene FOXP2 93986 genome.wustl.edu 36 7 114069795 114069795 + Missense_Mutation SNP C C A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 7 114069795 114069795 C A SNP FOXP2 NM_148898 human genbank 54_36p +1 reviewed missense c.945 p.D315E 1.000 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2 - no_errors FEM1C 56929 genome.wustl.edu 36 5 114888759 114888759 + Silent SNP A A T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 5 114888759 114888759 A T SNP FEM1C NM_020177 human genbank 54_36p -1 validated silent c.999 p.S333 1.000 superfamily_ANK superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors GOLGB1 2804 genome.wustl.edu 36 3 122931451 122931451 + Missense_Mutation SNP A A G novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 3 122931451 122931451 A G SNP GOLGB1 NM_004487 human genbank 54_36p -1 validated missense c.200 p.I67T 0.007 NULL superfamily_Spectrin repeat,superfamily_Prefoldin,HMMSmart_SM00340 - no_errors BUB3 9184 genome.wustl.edu 36 10 124912337 124912337 + Silent SNP G G A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 10 124912337 124912337 G A SNP BUB3 ENST00000407911 human ensembl 54_36p +1 known silent c.974 p.*325 1.000 NULL HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 - no_errors SLC25A25 114789 genome.wustl.edu 36 9 129900734 129900734 + Missense_Mutation SNP C C G novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 9 129900734 129900734 C G SNP SLC25A25 NM_052901 human genbank 54_36p +1 validated missense c.68 p.S23W 1.000 superfamily_EF-hand superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,superfamily_Mitochondrial carrier,HMMPfam_Mito_carr - no_errors PRRX2 51450 genome.wustl.edu 36 9 131522805 131522805 + Missense_Mutation SNP A A C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 9 131522805 131522805 A C SNP PRRX2 NM_016307 human genbank 54_36p +1 reviewed missense c.557 p.Q186P 1.000 NULL superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1,HMMPfam_OAR - no_errors ACAD11 84129 genome.wustl.edu 36 3 133832874 133832874 + Splice_Site SNP C C T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 3 133832874 133832874 C T SNP ACAD11 NM_032169 human genbank 54_36p -1 validated splice_site c.841+1 e6+1 0.861 - - - no_errors XRN1 54464 genome.wustl.edu 36 3 143581705 143581705 + Missense_Mutation SNP T T A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 3 143581705 143581705 T A SNP XRN1 NM_019001 human genbank 54_36p -1 validated missense c.2624 p.D875V 1.000 NULL HMMPfam_XRN_N,superfamily_dsRNA-binding domain-like - no_errors ARC 23237 genome.wustl.edu 36 8 143691875 143691875 + Missense_Mutation SNP A A T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 8 143691875 143691875 A T SNP ARC NM_015193 human genbank 54_36p -1 validated missense c.760 p.W254R 1.000 NULL NULL - no_errors ZNF212 7988 genome.wustl.edu 36 7 148581881 148581881 + Missense_Mutation SNP G G C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 7 148581881 148581881 G C SNP ZNF212 NM_012256 human genbank 54_36p +1 reviewed missense c.930 p.K310N 0.446 NULL superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMSmart_SM00349,HMMPfam_KRAB,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors CPA3 1359 genome.wustl.edu 36 3 150097136 150097136 + Missense_Mutation SNP G G A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 3 150097136 150097136 G A SNP CPA3 NM_001870 human genbank 54_36p +1 reviewed missense c.1206 p.M402I 1.000 superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M14 superfamily_Protease propeptides/inhibitors,HMMPfam_Propep_M14,superfamily_Zn-dependent exopeptidases,HMMSmart_SM00631,HMMPfam_Peptidase_M14,PatternScan_CARBOXYPEPT_ZN_2 - no_errors MED12L 116931 genome.wustl.edu 36 3 152394088 152394088 + Missense_Mutation SNP C C G novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 3 152394088 152394088 C G SNP MED12L NM_053002 human genbank 54_36p +1 validated missense c.2090 p.S697C 0.999 NULL HMMPfam_Med12 - no_errors TMEM154 201799 genome.wustl.edu 36 4 153820524 153820524 + Silent SNP G G C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 4 153820524 153820524 G C SNP TMEM154 NM_152680 human genbank 54_36p -1 provisional silent c.12 p.P4 0.000 NULL NULL - no_errors MME 4311 genome.wustl.edu 36 3 156317468 156317468 + Missense_Mutation SNP A A C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 3 156317468 156317468 A C SNP MME NM_000902 human genbank 54_36p +1 reviewed missense c.653 p.H218P 1.000 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13_N" "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13" - no_errors CSRNP3 80034 genome.wustl.edu 36 2 166241116 166241116 + Missense_Mutation SNP C C A novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 2 166241116 166241116 C A SNP CSRNP3 NM_024969 human genbank 54_36p +1 provisional missense c.457 p.L153M 0.805 NULL NULL - no_errors AGXT2L2 85007 genome.wustl.edu 36 5 177591043 177591043 + Silent SNP T T C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 5 177591043 177591043 T C SNP AGXT2L2 NM_153373 human genbank 54_36p -1 validated silent c.147 p.E49 0.383 superfamily_PLP-dependent transferases,HMMPfam_Aminotran_3 superfamily_PLP-dependent transferases,HMMPfam_Aminotran_3,PatternScan_AA_TRANSFER_CLASS_3 - no_errors CCDC141 285025 genome.wustl.edu 36 2 179441151 179441151 + Missense_Mutation SNP C C G novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 2 179441151 179441151 C G SNP CCDC141 NM_173648 human genbank 54_36p -1 provisional missense c.696 p.E232D 0.926 NULL HMMPfam_I-set - no_errors EIF2B5 8893 genome.wustl.edu 36 3 185340999 185340999 + Missense_Mutation SNP C C T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 3 185340999 185340999 C T SNP EIF2B5 NM_003907 human genbank 54_36p +1 validated missense c.943 p.R315C 1.000 superfamily_SSF53448 superfamily_SSF53448,superfamily_Trimer_LpxA_like,HMMPfam_Hexapep,superfamily_ARM-type_fold,HMMSmart_eIF5C,HMMPfam_W2 - no_errors FAM5C 339479 genome.wustl.edu 36 1 188333923 188333923 + Missense_Mutation SNP C C T novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 1 188333923 188333923 C T SNP FAM5C NM_199051 human genbank 54_36p -1 provisional missense c.2149 p.G717S 1.000 NULL HMMPfam_MACPF,HMMSmart_SM00457 - no_errors STK36 27148 genome.wustl.edu 36 2 219258074 219258074 + Missense_Mutation SNP G G C novel unknown TCGA-04-1516-01A-01D-1526-09 TCGA-04-1516-11B-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 4e700ddb-522d-4bb6-808c-dae3296a813a d8159f60-4e36-4ac8-ab39-557cf0d41775 2 219258074 219258074 G C SNP STK36 NM_015690 human genbank 54_36p +1 validated missense c.1259 p.W420S 1.000 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_ARM repeat,HMMPfam_HEAT - no_errors