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 ENSG00000215768 0 genome.wustl.edu 36 NT_113933 59675 59675 + Nonstop_Mutation SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 NT_113933 59675 59675 C A SNP ENSG00000215768 ENST00000400874 human ensembl 54_36p -1 known nonstop c.209 p.*70M NULL superfamily_Secretoglobin,HMMSmart_UTG superfamily_Secretoglobin,HMMSmart_UTG - no_errors CSMD1 64478 genome.wustl.edu 36 8 3007150 3007150 + Missense_Mutation SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 8 3007150 3007150 C T SNP CSMD1 NM_033225 human genbank 54_36p -1 validated missense c.5786 p.R1929Q 0.911 NULL superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region OR3A2 4995 genome.wustl.edu 36 17 3128409 3128409 + Missense_Mutation SNP G G C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 17 3128409 3128409 G C SNP OR3A2 NM_002551 human genbank 54_36p -1 validated missense c.571 p.P191A 0.008 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors ATP2A3 489 genome.wustl.edu 36 17 3797809 3797809 + Silent SNP C C G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 17 3797809 3797809 C G SNP ATP2A3 NM_174953 human genbank 54_36p -1 reviewed silent c.720 p.A240 0.954 superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_HAD-like,HMMPfam_Cation_ATPase_C - no_errors FSD1 79187 genome.wustl.edu 36 19 4269405 4269405 + Missense_Mutation SNP G G A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 19 4269405 4269405 G A SNP FSD1 NM_024333 human genbank 54_36p +1 provisional missense c.862 p.V288M 1.000 NULL HMMSmart_BBC,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3,HMMPfam_SPRY - no_errors RANBP6 26953 genome.wustl.edu 36 9 6003910 6003910 + Silent SNP G G T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 9 6003910 6003910 G T SNP RANBP6 NM_012416 human genbank 54_36p -1 validated silent c.1698 p.I566 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,HMMPfam_HEAT - no_errors ICMT 23463 genome.wustl.edu 36 1 6216222 6216222 + Missense_Mutation SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 6216222 6216222 C A SNP ICMT NM_012405 human genbank 54_36p -1 reviewed missense c.353 p.S118I 1.000 NULL HMMPfam_ICMT - no_errors ENSG00000206033 0 genome.wustl.edu 36 8 7178490 7178490 + Missense_Mutation SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 8 7178490 7178490 C T SNP ENSG00000206033 ENST00000382655 human ensembl 54_36p +1 known missense c.1172 p.P391L 0.001 NULL PatternScan_UCH_2_1,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_2 - no_errors TP53 7157 genome.wustl.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors CHD3 1107 genome.wustl.edu 36 17 7754586 7754586 + Silent SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 17 7754586 7754586 C T SNP CHD3 NM_001005271 human genbank 54_36p +1 reviewed silent c.5841 p.S1947 1.000 HMMPfam_CHDCT2 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 NLRP10 338322 genome.wustl.edu 36 11 7938342 7938342 + Missense_Mutation SNP G G T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 11 7938342 7938342 G T SNP NLRP10 NM_176821 human genbank 54_36p -1 reviewed missense c.1393 p.R465S 0.325 NULL superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,superfamily_SSF52540,HMMPfam_NACHT - no_errors OR7D4 125958 genome.wustl.edu 36 19 9186424 9186424 + Silent SNP C C G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 19 9186424 9186424 C G SNP OR7D4 NM_001005191 human genbank 54_36p -1 provisional silent c.90 p.L30 0.014 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 ANKRD12 23253 genome.wustl.edu 36 18 9245428 9245428 + Silent SNP A A G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 18 9245428 9245428 A G SNP ANKRD12 NM_015208 human genbank 54_36p +1 validated silent c.2163 p.E721 1.000 superfamily_Ankyrin repeat superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors DRD5 1816 genome.wustl.edu 36 4 9392817 9392817 + Silent SNP G A A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 4 9392817 9392817 G A SNP DRD5 NM_000798 human genbank 54_36p +1 reviewed silent c.66 p.A22 0.136 NULL superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors MYH4 4622 genome.wustl.edu 36 17 10307635 10307635 + Silent SNP G G A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 17 10307635 10307635 G A SNP MYH4 NM_017533 human genbank 54_36p -1 validated silent c.699 p.F233 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 CCT5 22948 genome.wustl.edu 36 5 10311338 10311338 + Missense_Mutation SNP G G A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 5 10311338 10311338 G A SNP CCT5 NM_012073 human genbank 54_36p +1 reviewed missense c.646 p.G216S 1.000 superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like - no_errors TNFRSF8 943 genome.wustl.edu 36 1 12098309 12098309 + Silent SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 12098309 12098309 C A SNP TNFRSF8 NM_001243 human genbank 54_36p +1 reviewed silent c.882 p.T294 0.871 superfamily_TNF receptor-like HMMPfam_TNFR_c6,HMMSmart_SM00208,superfamily_TNF receptor-like,PatternScan_TNFR_NGFR_1 - no_errors FBLN2 2199 genome.wustl.edu 36 3 13652996 13652996 + Missense_Mutation SNP T T C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 3 13652996 13652996 T C SNP FBLN2 ENST00000295761 human ensembl 54_36p +1 known missense c.3262 p.C1088R 1.000 PatternScan_EGF_CA,HMMSmart_SM00179,HMMPfam_EGF_CA,HMMSmart_SM00181,superfamily_EGF/Laminin HMMSmart_SM00181,HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2 - no_errors LOC729057 729057 genome.wustl.edu 36 22 14503027 14503027 + RNA SNP T T G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 22 14503027 14503027 T G SNP LOC729057 XR_042044 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - no_errors FAM105A 54491 genome.wustl.edu 36 5 14655388 14655388 + Missense_Mutation SNP T T G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 5 14655388 14655388 T G SNP FAM105A NM_019018 human genbank 54_36p +1 validated missense c.445 p.F149V 1.000 NULL NULL - no_errors EPS15L1 58513 genome.wustl.edu 36 19 16406258 16406258 + Missense_Mutation SNP A A G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 19 16406258 16406258 A G SNP EPS15L1 NM_021235 human genbank 54_36p -1 provisional missense c.416 p.L139S 0.540 superfamily_SSF47473,HMMSmart_EH superfamily_SSF47473,HMMSmart_EH,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors EFHA2 286097 genome.wustl.edu 36 8 16965973 16965973 + Missense_Mutation SNP G G A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 8 16965973 16965973 G A SNP EFHA2 NM_181723 human genbank 54_36p +1 provisional missense c.391 p.G131S 0.089 NULL superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors KCNC1 3746 genome.wustl.edu 36 11 17750447 17750447 + Silent SNP G G A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 11 17750447 17750447 G A SNP KCNC1 NM_004976 human genbank 54_36p +1 reviewed silent c.1230 p.T410 0.996 superfamily_SSF81324,HMMPfam_Ion_trans superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans - no_errors SATB1 6304 genome.wustl.edu 36 3 18403085 18403085 + Missense_Mutation SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 3 18403085 18403085 C T SNP SATB1 NM_002971 human genbank 54_36p -1 validated missense c.1229 p.R410Q 1.000 HMMPfam_CUT HMMPfam_CUT,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox - no_errors MAPK7 5598 genome.wustl.edu 36 17 19227094 19227094 + Missense_Mutation SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 17 19227094 19227094 C A SNP MAPK7 NM_002749 human genbank 54_36p +1 reviewed missense c.2408 p.S803Y 1.000 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST - no_errors RIN2 54453 genome.wustl.edu 36 20 19929350 19929350 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 20 19929350 19929350 C T SNP RIN2 NM_018993 human genbank 54_36p +1 reviewed nonsense c.2458 p.Q820* 0.951 HMMPfam_RA,HMMSmart_SM00314 superfamily_SH2 domain,superfamily_VPS9 domain (Pfam 02204),HMMSmart_SM00167,HMMPfam_VPS9,HMMPfam_RA,HMMSmart_SM00314 - no_errors LOC646805 646805 genome.wustl.edu 36 16 20514629 20514629 + Silent SNP A A C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 16 20514629 20514629 A C SNP LOC646805 XM_001726979 human genbank 54_36p -1 model silent c.246 p.V82 0.931 HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like - no_errors ZNF521 25925 genome.wustl.edu 36 18 21059502 21059502 + Missense_Mutation SNP C C G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 18 21059502 21059502 C G SNP ZNF521 NM_015461 human genbank 54_36p -1 validated missense c.2378 p.G793A 1.000 superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZNF521 25925 genome.wustl.edu 36 18 21061555 21061555 + Missense_Mutation SNP C C G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 18 21061555 21061555 C G SNP ZNF521 NM_015461 human genbank 54_36p -1 validated missense c.325 p.E109Q 1.000 NULL HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors RAP1GAP 5909 genome.wustl.edu 36 1 21817032 21817032 + Silent SNP T T G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 21817032 21817032 T G SNP RAP1GAP NM_002885 human genbank 54_36p -1 validated silent c.87 p.P29 0.960 NULL HMMPfam_GoLoco,HMMSmart_SM00390,superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP - no_errors LOC100128717 0 genome.wustl.edu 36 17 22116907 22116907 + RNA SNP G T T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 17 22116907 22116907 G T SNP LOC100128717 XR_037607 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene TCEB3 6924 genome.wustl.edu 36 1 23949930 23949930 + Missense_Mutation SNP A G G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 23949930 23949930 A G SNP TCEB3 NM_003198 human genbank 54_36p +1 reviewed missense c.248 p.E83G 0.944 HMMPfam_TFIIS superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70,HMMPfam_TFIIS,HMMSmart_SM00509,HMMPfam_Elongin_A - no_errors DSG3 1830 genome.wustl.edu 36 18 27281850 27281850 + Silent SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 18 27281850 27281850 C A SNP DSG3 NM_001944 human genbank 54_36p +1 reviewed silent c.12 p.L4 0.021 NULL HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin,PatternScan_CADHERIN_1 - no_errors PRKD1 5587 genome.wustl.edu 36 14 29117253 29117253 + Silent SNP G G T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 14 29117253 29117253 G T SNP PRKD1 NM_002742 human genbank 54_36p -1 validated silent c.2499 p.T833 0.986 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors OR5V1 81696 genome.wustl.edu 36 6 29431230 29431230 + Missense_Mutation SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 6 29431230 29431230 C A SNP OR5V1 NM_030876 human genbank 54_36p -1 validated missense c.722 p.C241F 0.998 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 OR10C1 442194 genome.wustl.edu 36 6 29493043 29493043 + Missense_Mutation SNP A A G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 6 29493043 29493043 A G SNP OR10C1 ENST00000383554 human ensembl 54_36p +1 known missense c.8 p.N3S 0.315 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors DTNA 1837 genome.wustl.edu 36 18 30692360 30692360 + Missense_Mutation SNP G G T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 18 30692360 30692360 G T SNP DTNA NM_001390 human genbank 54_36p +1 reviewed missense c.1565 p.R522I 1.000 NULL superfamily_EF-hand,HMMPfam_efhand_1,HMMPfam_efhand_2,HMMSmart_SM00291,HMMPfam_ZZ,PatternScan_ZF_ZZ_1 - no_errors HEATR5A 25938 genome.wustl.edu 36 14 30848009 30848009 + Silent SNP T T C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 14 30848009 30848009 T C SNP HEATR5A NM_015473 human genbank 54_36p -1 validated silent c.3693 p.E1231 0.974 NULL superfamily_ARM repeat,HMMPfam_HEAT - no_errors FAM60A 58516 genome.wustl.edu 36 12 31338048 31338048 + Missense_Mutation SNP T T A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 12 31338048 31338048 T A SNP FAM60A NM_021238 human genbank 54_36p -1 validated missense c.313 p.S105C 1.000 NULL NULL - no_errors GGT7 2686 genome.wustl.edu 36 20 32903939 32903939 + Silent SNP G G T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 20 32903939 32903939 G T SNP GGT7 NM_178026 human genbank 54_36p -1 reviewed silent c.1383 p.L461 0.901 HMMPfam_G_glu_transpept HMMPfam_G_glu_transpept - no_errors YARS 8565 genome.wustl.edu 36 1 33024584 33024584 + Missense_Mutation SNP G G T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 33024584 33024584 G T SNP YARS NM_003680 human genbank 54_36p -1 reviewed missense c.872 p.A291D 0.839 superfamily_Nucleotidylyl transferase,HMMPfam_tRNA-synt_1b superfamily_Nucleotidylyl transferase,HMMPfam_tRNA-synt_1b,superfamily_Nucleic acid-binding proteins,HMMPfam_tRNA_bind - no_errors PARD3 56288 genome.wustl.edu 36 10 34711766 34711766 + Silent SNP T T C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 10 34711766 34711766 T C SNP PARD3 NM_019619 human genbank 54_36p -1 provisional silent c.1107 p.L369 0.444 superfamily_PDZ domain-like superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ - no_errors C19orf2 8725 genome.wustl.edu 36 19 35195069 35195069 + Missense_Mutation SNP C C G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 19 35195069 35195069 C G SNP C19orf2 NM_003796 human genbank 54_36p +1 reviewed missense c.1216 p.R406G 1.000 NULL superfamily_Prefoldin,HMMPfam_Prefoldin - no_errors TRIOBP 11078 genome.wustl.edu 36 22 36450055 36450055 + Missense_Mutation SNP T T C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 22 36450055 36450055 T C SNP TRIOBP NM_001039141 human genbank 54_36p +1 reviewed missense c.1546 p.S516P 0.006 NULL HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like - no_errors DNALI1 7802 genome.wustl.edu 36 1 37799791 37799791 + Silent SNP G G A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 37799791 37799791 G A SNP DNALI1 NM_003462 human genbank 54_36p +1 reviewed silent c.510 p.L170 1.000 HMMPfam_Ax_dynein_light HMMPfam_Ax_dynein_light - no_errors RPLP0-like 220717 genome.wustl.edu 36 2 38562504 38562504 + RNA SNP G G T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 2 38562504 38562504 G T SNP RPLP0-like XR_017813 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene THUMPD2 80745 genome.wustl.edu 36 2 39846728 39846728 + Missense_Mutation SNP T T C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 2 39846728 39846728 T C SNP THUMPD2 NM_025264 human genbank 54_36p -1 provisional missense c.686 p.Y229C 1.000 HMMPfam_THUMP HMMPfam_THUMP,HMMPfam_UPF0020,superfamily_SSF53335 - no_errors C19orf15 57828 genome.wustl.edu 36 19 43552534 43552534 + Missense_Mutation SNP G G T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 19 43552534 43552534 G T SNP C19orf15 NM_021185 human genbank 54_36p +1 validated missense c.2023 p.V675L 1.000 NULL NULL - no_errors LOC653436 653436 genome.wustl.edu 36 9 44050507 44050507 + RNA SNP T T C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 9 44050507 44050507 T C SNP LOC653436 XR_042306 human genbank 54_36p -1 model rna NULL NULL 0.072 - - - pseudogene ARID2 196528 genome.wustl.edu 36 12 44531990 44531990 + Silent SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 12 44531990 44531990 C A SNP ARID2 NM_152641 human genbank 54_36p +1 validated silent c.3817 p.R1273 1.000 NULL "HMMPfam_ARID,superfamily_ARID-like,HMMSmart_SM00501,superfamily_""Winged helix"" DNA-binding domain,PatternScan_ZINC_FINGER_C2H2_1" - no_errors ENSG00000204813 0 genome.wustl.edu 36 9 44814142 44814142 + Missense_Mutation SNP G T T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 9 44814142 44814142 G T SNP ENSG00000204813 ENST00000377544 human ensembl 54_36p +1 known missense c.139 p.A47S 0.000 NULL NULL - no_start_codon:no_stop_codon CELSR1 9620 genome.wustl.edu 36 22 45151652 45151652 + Missense_Mutation SNP G T T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 22 45151652 45151652 G T SNP CELSR1 NM_014246 human genbank 54_36p -1 reviewed missense c.7554 p.F2518L 0.995 HMMPfam_7tm_2 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_ASX_HYDROXYL,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2 - no_errors CYP2B6 1555 genome.wustl.edu 36 19 46201808 46201808 + Silent SNP G G C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 19 46201808 46201808 G C SNP CYP2B6 NM_000767 human genbank 54_36p +1 reviewed silent c.234 p.L78 0.040 HMMPfam_p450,superfamily_Cytochrome_P450 HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450 - no_errors PREX1 57580 genome.wustl.edu 36 20 46702611 46702611 + Missense_Mutation SNP T A A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 20 46702611 46702611 T A SNP PREX1 NM_020820 human genbank 54_36p -1 reviewed missense c.2387 p.Q796L 1.000 superfamily_PDZ domain-like "superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00049,HMMPfam_DEP,superfamily_PDZ domain-like,HMMSmart_SM00228" - no_errors MKNK1 8569 genome.wustl.edu 36 1 46806722 46806722 + Silent SNP A A G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 46806722 46806722 A G SNP MKNK1 NM_003684 human genbank 54_36p -1 validated silent c.652 p.L218 0.993 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors CELSR3 1951 genome.wustl.edu 36 3 48652420 48652420 + Missense_Mutation SNP C T T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 3 48652420 48652420 C T SNP CELSR3 NM_001407 human genbank 54_36p -1 reviewed missense c.9602 p.R3201Q 1.000 NULL superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_ASX_HYDROXYL,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors WDR6 11180 genome.wustl.edu 36 3 49027675 49027675 + Missense_Mutation SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 3 49027675 49027675 C T SNP WDR6 NM_018031 human genbank 54_36p +1 reviewed missense c.3316 p.R1106C 0.970 NULL superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors CPT1B 1375 genome.wustl.edu 36 22 49359802 49359802 + Missense_Mutation SNP C C G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 22 49359802 49359802 C G SNP CPT1B NM_004377 human genbank 54_36p -1 reviewed missense c.871 p.E291Q 0.995 superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2 - no_errors COBL 23242 genome.wustl.edu 36 7 51228708 51228708 + Silent SNP T T C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 7 51228708 51228708 T C SNP COBL NM_015198 human genbank 54_36p -1 validated silent c.318 p.E106 0.971 HMMPfam_Cobl HMMPfam_Cobl,HMMPfam_WH2,HMMSmart_SM00246 - no_errors CCDC155 147872 genome.wustl.edu 36 19 54612309 54612309 + Missense_Mutation SNP G T T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 19 54612309 54612309 G T SNP CCDC155 NM_144688 human genbank 54_36p +1 provisional missense c.1521 p.Q507H 0.456 NULL NULL - no_errors SILV 6490 genome.wustl.edu 36 12 54637114 54637114 + Missense_Mutation SNP T T C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 12 54637114 54637114 T C SNP SILV NM_006928 human genbank 54_36p -1 validated missense c.1240 p.T414A 0.987 NULL superfamily_PKD domain,HMMPfam_PKD,HMMSmart_SM00089 - no_errors LYPLA1 10434 genome.wustl.edu 36 8 55126206 55126206 + Silent SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 8 55126206 55126206 C A SNP LYPLA1 NM_006330 human genbank 54_36p -1 reviewed silent c.558 p.V186 0.213 superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_2 superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_2 - no_errors OR5B17 219965 genome.wustl.edu 36 11 57882969 57882969 + Missense_Mutation SNP G G T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 11 57882969 57882969 G T SNP OR5B17 NM_001005489 human genbank 54_36p -1 provisional missense c.150 p.D50E 0.009 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ELOVL7 79993 genome.wustl.edu 36 5 60095881 60095881 + Silent SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 5 60095881 60095881 C T SNP ELOVL7 NM_001104558 human genbank 54_36p -1 validated silent c.429 p.V143 1.000 HMMPfam_ELO,PatternScan_ELO HMMPfam_ELO,PatternScan_ELO - no_errors BICC1 80114 genome.wustl.edu 36 10 60219143 60219143 + Missense_Mutation SNP T T A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 10 60219143 60219143 T A SNP BICC1 NM_001080512 human genbank 54_36p +1 provisional missense c.716 p.V239E 0.999 NULL HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMPfam_KH_1,HMMSmart_SM00454,HMMPfam_SAM_1,superfamily_SAM/Pointed domain - no_errors PTPRH 5794 genome.wustl.edu 36 19 60407219 60407219 + Missense_Mutation SNP G G T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 19 60407219 60407219 G T SNP PTPRH NM_002842 human genbank 54_36p -1 reviewed missense c.629 p.P210Q 0.000 superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060 HMMPfam_fn3,superfamily_Fibronectin type III,HMMSmart_SM00060,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors FLJ37543 285668 genome.wustl.edu 36 5 61018552 61018552 + Missense_Mutation SNP G G C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 5 61018552 61018552 G C SNP FLJ37543 NM_173667 human genbank 54_36p +1 validated missense c.123 p.E41D 0.000 NULL NULL - no_errors AHNAK 79026 genome.wustl.edu 36 11 62049531 62049531 + Silent SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 11 62049531 62049531 C T SNP AHNAK NM_001620 human genbank 54_36p -1 validated silent c.8934 p.K2978 0.675 NULL superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_CheC - no_errors TTPA 7274 genome.wustl.edu 36 8 64141193 64141193 + Missense_Mutation SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 8 64141193 64141193 C T SNP TTPA NM_000370 human genbank 54_36p -1 validated missense c.376 p.V126I 0.987 HMMPfam_CRAL_TRIO,superfamily_CRAL_TRIO_C,HMMSmart_SEC14 superfamily_Sec14p_like_N,HMMPfam_CRAL_TRIO_N,HMMPfam_CRAL_TRIO,superfamily_CRAL_TRIO_C,HMMSmart_SEC14 - no_errors THAP11 57215 genome.wustl.edu 36 16 66434330 66434330 + Missense_Mutation SNP G G C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 16 66434330 66434330 G C SNP THAP11 NM_020457 human genbank 54_36p +1 reviewed missense c.372 p.Q124H 0.989 NULL HMMPfam_THAP,HMMSmart_DM3 - no_errors DIRAS3 9077 genome.wustl.edu 36 1 68285510 68285510 + Missense_Mutation SNP A A T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 68285510 68285510 A T SNP DIRAS3 NM_004675 human genbank 54_36p -1 reviewed missense c.59 p.L20Q 0.005 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00173,HMMSmart_SM00175,HMMSmart_SM00174,HMMPfam_Ras - no_errors PGM5 5239 genome.wustl.edu 36 9 70334368 70334368 + Silent SNP G G A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 9 70334368 70334368 G A SNP PGM5 NM_021965 human genbank 54_36p +1 validated silent c.1680 p.R560 1.000 superfamily_Phosphoglucomutase C-terminal domain superfamily_Phosphoglucomutase first 3 domains,HMMPfam_PGM_PMM_I,PatternScan_PGM_PMM,PatternScan_TRYPSIN_HIS,HMMPfam_PGM_PMM_II,HMMPfam_PGM_PMM_III,superfamily_Phosphoglucomutase C-terminal domain,HMMPfam_PGM_PMM_IV - no_errors STRA6 64220 genome.wustl.edu 36 15 72275419 72275419 + Missense_Mutation SNP G G A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 15 72275419 72275419 G A SNP STRA6 NM_022369 human genbank 54_36p -1 reviewed missense c.389 p.A130V 0.001 NULL NULL - no_errors NDST2 8509 genome.wustl.edu 36 10 75232287 75232287 + Missense_Mutation SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 10 75232287 75232287 C A SNP NDST2 NM_003635 human genbank 54_36p -1 reviewed missense c.2580 p.K860N 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1 - no_errors EIF4A3 9775 genome.wustl.edu 36 17 75726622 75726622 + Missense_Mutation SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 17 75726622 75726622 C T SNP EIF4A3 NM_014740 human genbank 54_36p -1 reviewed missense c.781 p.E261K 1.000 superfamily_SSF52540 superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C - no_errors LOC440015 0 genome.wustl.edu 36 3 75801663 75801663 + RNA SNP T T G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 3 75801663 75801663 T G SNP LOC440015 XR_015234 human genbank 54_36p +1 model rna NULL NULL 0.092 - - - no_errors SH2D7 0 genome.wustl.edu 36 15 76177907 76177907 + Missense_Mutation SNP T G G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 15 76177907 76177907 T G SNP SH2D7 NM_001101404 human genbank 54_36p +1 provisional missense c.559 p.S187A 0.009 NULL HMMSmart_SH2,superfamily_SSF55550,HMMPfam_SH2 - no_errors C12orf64 283310 genome.wustl.edu 36 12 79174246 79174246 + Splice_Site SNP A A C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 12 79174246 79174246 A C SNP C12orf64 ENST00000298820 human ensembl 54_36p +1 known splice_site c.1-2 e1-2 0.996 - - - no_errors FGF5 2250 genome.wustl.edu 36 4 81407304 81407304 + Missense_Mutation SNP T T G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 4 81407304 81407304 T G SNP FGF5 NM_004464 human genbank 54_36p +1 reviewed missense c.302 p.L101R 1.000 superfamily_Cytokine,HMMSmart_SM00442,HMMPfam_FGF superfamily_Cytokine,HMMSmart_SM00442,HMMPfam_FGF,PatternScan_HBGF_FGF - no_errors CACNA2D1 781 genome.wustl.edu 36 7 81431351 81431351 + Missense_Mutation SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 7 81431351 81431351 C A SNP CACNA2D1 NM_000722 human genbank 54_36p -1 reviewed missense c.2737 p.A913S 1.000 NULL HMMPfam_VWA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_Cache_1,HMMPfam_VGCC_alpha2 - no_errors FABP12 0 genome.wustl.edu 36 8 82606077 82606077 + Missense_Mutation SNP T T A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 8 82606077 82606077 T A SNP FABP12 NM_001105281 human genbank 54_36p -1 provisional missense c.29 p.K10M 0.991 superfamily_Lipocalins,HMMPfam_Lipocalin superfamily_Lipocalins,HMMPfam_Lipocalin - no_errors SLC6A15 55117 genome.wustl.edu 36 12 83791147 83791147 + Missense_Mutation SNP A A C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 12 83791147 83791147 A C SNP SLC6A15 NM_182767 human genbank 54_36p -1 validated missense c.959 p.F320C 1.000 HMMPfam_SNF HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2 - no_errors AKAP13 11214 genome.wustl.edu 36 15 84060074 84060074 + Missense_Mutation SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 15 84060074 84060074 C T SNP AKAP13 NM_006738 human genbank 54_36p +1 reviewed missense c.5663 p.T1888I 0.009 NULL superfamily_ANK,HMMPfam_RII_binding_1,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,PatternScan_EF_HAND_1,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,HMMPfam_PH,superfamily_SSF50729,HMMSmart_PH - no_errors AEN 64782 genome.wustl.edu 36 15 86973522 86973522 + Missense_Mutation SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 15 86973522 86973522 C T SNP AEN NM_022767 human genbank 54_36p +1 validated missense c.602 p.A201V 1.000 superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T superfamily_Ribonuclease H-like,HMMSmart_SM00479,HMMPfam_Exonuc_X-T - no_errors FAT3 120114 genome.wustl.edu 36 11 92255955 92255955 + Missense_Mutation SNP C A A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 11 92255955 92255955 C A SNP FAT3 NM_001008781 human genbank 54_36p +1 validated missense c.12685 p.Q4229K 1.000 NULL superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2 - no_errors BTBD7 55727 genome.wustl.edu 36 14 92779101 92779101 + Silent SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 14 92779101 92779101 C T SNP BTBD7 NM_001002860 human genbank 54_36p -1 validated silent c.2670 p.E890 0.990 NULL superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK - no_errors LOC90499 90499 genome.wustl.edu 36 2 94787893 94787893 + RNA SNP G A A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 2 94787893 94787893 G A SNP LOC90499 XR_042127 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - no_errors C10orf129 142827 genome.wustl.edu 36 10 96961690 96961690 + Missense_Mutation SNP T T C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 10 96961690 96961690 T C SNP C10orf129 NM_207321 human genbank 54_36p +1 validated missense c.356 p.L119S 0.949 HMMPfam_AMP-binding,superfamily_SSF56801 HMMPfam_AMP-binding,superfamily_SSF56801 - no_errors ZNF518 9849 genome.wustl.edu 36 10 97906751 97906751 + Nonsense_Mutation SNP A A T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 10 97906751 97906751 A T SNP ZNF518 ENST00000371192 human ensembl 54_36p +1 known nonsense c.682 p.R228* 1.000 HMMSmart_SM00355 HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors OR5K4 403278 genome.wustl.edu 36 3 99555699 99555699 + Silent SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 3 99555699 99555699 C A SNP OR5K4 NM_001005517 human genbank 54_36p +1 provisional silent c.312 p.L104 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PCCA 5095 genome.wustl.edu 36 13 99751817 99751817 + Missense_Mutation SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 13 99751817 99751817 C A SNP PCCA NM_000282 human genbank 54_36p +1 reviewed missense c.1168 p.R390S 1.000 HMMPfam_CPSase_L_D2,superfamily_SSF56059 HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like,HMMPfam_CPSase_L_D2,superfamily_SSF56059,PatternScan_CPSASE_1,PatternScan_CPSASE_2,superfamily_Rudmnt_hyb_motif,HMMPfam_Biotin_carb_C,superfamily_Hybrid_motif,HMMPfam_Biotin_lipoyl,PatternScan_BIOTIN - no_errors MUC17 140453 genome.wustl.edu 36 7 100469768 100469768 + Missense_Mutation SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 7 100469768 100469768 C A SNP MUC17 NM_001040105 human genbank 54_36p +1 provisional missense c.8351 p.T2784N 0.000 NULL superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors OLFM3 118427 genome.wustl.edu 36 1 102234946 102234946 + Silent SNP G G C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 102234946 102234946 G C SNP OLFM3 NM_058170 human genbank 54_36p -1 validated silent c.15 p.S5 1.000 NULL HMMPfam_OLF,HMMSmart_SM00284 - no_errors ZBTB11 27107 genome.wustl.edu 36 3 102852738 102852738 + Missense_Mutation SNP C C G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 3 102852738 102852738 C G SNP ZBTB11 NM_014415 human genbank 54_36p -1 validated missense c.3124 p.V1042L 1.000 NULL superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors CKAP4 10970 genome.wustl.edu 36 12 105157553 105157553 + Silent SNP C A A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 12 105157553 105157553 C A SNP CKAP4 NM_006825 human genbank 54_36p -1 validated silent c.1188 p.S396 0.000 NULL NULL - no_errors ACACB 32 genome.wustl.edu 36 12 108102234 108102234 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 12 108102234 108102234 G T SNP ACACB NM_001093 human genbank 54_36p +1 reviewed nonsense c.1777 p.E593* 0.998 superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_CPSase_L_D2 HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp domain,superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_CPSase_L_D2,PatternScan_CPSASE_1,PatternScan_CPSASE_2,superfamily_Rudiment single hybrid motif,HMMPfam_Biotin_carb_C,superfamily_Single hybrid motif,HMMPfam_Biotin_lipoyl,HMMPfam_ACC_central,superfamily_ClpP/crotonase,HMMPfam_Carboxyl_trans - no_errors KRT18P42 391819 genome.wustl.edu 36 5 108952555 108952555 + RNA SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 5 108952555 108952555 C T SNP KRT18P42 XR_016386 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene RGAG1 57529 genome.wustl.edu 36 X 109582943 109582943 + Silent SNP T T C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 X 109582943 109582943 T C SNP RGAG1 NM_020769 human genbank 54_36p +1 provisional silent c.2442 p.A814 0.055 NULL HMMPfam_Retrotrans_gag - no_errors ZBTB24 9841 genome.wustl.edu 36 6 109903338 109903338 + Silent SNP G G A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 6 109903338 109903338 G A SNP ZBTB24 NM_014797 human genbank 54_36p -1 provisional silent c.1245 p.F415 1.000 HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_AT_hook,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors TFDP1 7027 genome.wustl.edu 36 13 113338297 113338297 + Missense_Mutation SNP T T G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 13 113338297 113338297 T G SNP TFDP1 NM_007111 human genbank 54_36p +1 reviewed missense c.692 p.I231S 1.000 HMMPfam_DP HMMPfam_E2F_TDP,superfamily_SSF46785,HMMPfam_DP - no_errors PSD4 23550 genome.wustl.edu 36 2 113656750 113656750 + Silent SNP C T T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 2 113656750 113656750 C T SNP PSD4 NM_012455 human genbank 54_36p +1 validated silent c.246 p.D82 0.248 NULL HMMPfam_Sec7,superfamily_Sec7 domain,HMMSmart_SM00222,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors ANK2 287 genome.wustl.edu 36 4 114493895 114493895 + Missense_Mutation SNP G G T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 4 114493895 114493895 G T SNP ANK2 NM_001148 human genbank 54_36p +1 reviewed missense c.4672 p.D1558Y 1.000 NULL superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_ZU5,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death - no_errors PCDHA6 56142 genome.wustl.edu 36 5 140188149 140188149 + Missense_Mutation SNP G G C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 5 140188149 140188149 G C SNP PCDHA6 NM_018909 human genbank 54_36p +1 reviewed missense c.289 p.G97R 0.878 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors TCERG1 10915 genome.wustl.edu 36 5 145842412 145842412 + Missense_Mutation SNP G G A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 5 145842412 145842412 G A SNP TCERG1 NM_006706 human genbank 54_36p +1 reviewed missense c.1951 p.A651T 1.000 superfamily_FF domain superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_FF domain,HMMSmart_SM00441,HMMPfam_FF - no_errors MAGEA11 4110 genome.wustl.edu 36 X 148576801 148576801 + Missense_Mutation SNP G G C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 X 148576801 148576801 G C SNP MAGEA11 NM_005366 human genbank 54_36p -1 reviewed missense c.458 p.S153C 0.017 NULL HMMPfam_MAGE - no_errors ENSG00000197558 0 genome.wustl.edu 36 7 149123696 149123696 + Silent SNP C T T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 7 149123696 149123696 C T SNP ENSG00000197558 ENST00000262089 human ensembl 54_36p +1 novel silent c.3567 p.P1189 0.000 NULL HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00214,HMMPfam_VWC,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C - no_start_codon PSMB4 5692 genome.wustl.edu 36 1 149638747 149638747 + Missense_Mutation SNP G G C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 149638747 149638747 G C SNP PSMB4 NM_002796 human genbank 54_36p +1 reviewed missense c.60 p.Q20H 0.998 NULL superfamily_SSF56235,HMMPfam_Proteasome,PatternScan_PROTEASOME_B - no_errors HRNR 388697 genome.wustl.edu 36 1 150459655 150459655 + Silent SNP G G A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 150459655 150459655 G A SNP HRNR NM_001009931 human genbank 54_36p -1 validated silent c.1074 p.S358 0.000 NULL PatternScan_S100_CABP,HMMPfam_S_100,PatternScan_EF_HAND_1,HMMPfam_SVS_QK,superfamily_SSF47473 - no_errors CD1D 912 genome.wustl.edu 36 1 156417914 156417914 + Missense_Mutation SNP T T A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 156417914 156417914 T A SNP CD1D NM_001766 human genbank 54_36p +1 reviewed missense c.107 p.F36Y 0.015 HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog,superfamily_SSF48726,HMMPfam_C1-set,HMMSmart_IGc1 - no_errors OR10R2 343406 genome.wustl.edu 36 1 156717175 156717175 + Missense_Mutation SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 156717175 156717175 C T SNP OR10R2 NM_001004472 human genbank 54_36p +1 provisional missense c.884 p.T295M 0.001 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SPTA1 6708 genome.wustl.edu 36 1 156876336 156876336 + Missense_Mutation SNP C C G novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 156876336 156876336 C G SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed missense c.4823 p.R1608P 1.000 HMMPfam_Spectrin superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_EF-hand,HMMPfam_efhand_Ca_insen - no_errors ADAM19 8728 genome.wustl.edu 36 5 156879472 156879472 + Missense_Mutation SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 5 156879472 156879472 C T SNP ADAM19 NM_033274 human genbank 54_36p -1 reviewed missense c.553 p.D185N 0.945 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 TAGAP 117289 genome.wustl.edu 36 6 159381791 159381791 + Missense_Mutation SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 6 159381791 159381791 C A SNP TAGAP NM_054114 human genbank 54_36p -1 reviewed missense c.539 p.G180V 0.388 superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors RGS16 6004 genome.wustl.edu 36 1 180836098 180836098 + Silent SNP G G A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 180836098 180836098 G A SNP RGS16 NM_002928 human genbank 54_36p -1 reviewed silent c.561 p.A187 0.011 superfamily_Regulator of G-protein signaling RGS superfamily_Regulator of G-protein signaling RGS,HMMPfam_RGS,HMMSmart_SM00315 - no_errors COL5A2 1290 genome.wustl.edu 36 2 189629951 189629951 + Missense_Mutation SNP C C T novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 2 189629951 189629951 C T SNP COL5A2 NM_000393 human genbank 54_36p -1 reviewed missense c.2384 p.G795D 1.000 HMMPfam_Collagen HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI - no_errors LOC200726 200726 genome.wustl.edu 36 2 207217577 207217577 + Missense_Mutation SNP A A C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 2 207217577 207217577 A C SNP LOC200726 NM_001102659 human genbank 54_36p +1 predicted missense c.372 p.K124N 0.631 NULL NULL - no_errors PTH2R 5746 genome.wustl.edu 36 2 209066506 209066506 + Missense_Mutation SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 2 209066506 209066506 C A SNP PTH2R NM_005048 human genbank 54_36p +1 reviewed missense c.1530 p.H510Q 0.000 NULL superfamily_SSF111418,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,superfamily_SSF81321,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors STK36 27148 genome.wustl.edu 36 2 219270101 219270101 + Missense_Mutation SNP G G C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 2 219270101 219270101 G C SNP STK36 NM_015690 human genbank 54_36p +1 validated missense c.2682 p.E894D 0.150 superfamily_ARM repeat 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 SUSD4 55061 genome.wustl.edu 36 1 221469292 221469292 + Missense_Mutation SNP C C A novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 221469292 221469292 C A SNP SUSD4 NM_017982 human genbank 54_36p -1 validated missense c.786 p.E262D 0.878 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors GIGYF2 26058 genome.wustl.edu 36 2 233363767 233363767 + Silent SNP G G C novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 2 233363767 233363767 G C SNP GIGYF2 NM_001103147 human genbank 54_36p +1 validated silent c.894 p.G298 0.997 NULL superfamily_GYF,HMMPfam_GYF,HMMSmart_GYF - no_errors OTOA 146183 genome.wustl.edu 36 16 21641722 21641731 + Splice_Site DEL TTCAGGTTAA TTCAGGTTAA - novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 TTCAGGTTAA TTCAGGTTAA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 16 21641722 21641731 TTCAGGTTAA - DEL OTOA NM_144672 human genbank 54_36p +1 provisional splice_site_del c.1807-5_1807-1 e17-1 0.994:0.996:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999 - - (deletion:intron[21638327,21641726], cds_exon[21641727,21641800]) no_errors HECW1 23072 genome.wustl.edu 36 7 43451626 43451648 + Frame_Shift_Del DEL GCGGGCACGTGGAAAGAAGCCCG GCGGGCACGTGGAAAGAAGCCCG - novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 GCGGGCACGTGGAAAGAAGCCCG GCGGGCACGTGGAAAGAAGCCCG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 7 43451626 43451648 GCGGGCACGTGGAAAGAAGCCCG - DEL HECW1 NM_015052 human genbank 54_36p +1 validated frame_shift_del c.2330_2352 p.S777fs 0.000:0.001:0.161:0.142:0.047:0.046:0.033:0.015:0.001:0.000:0.001:0.002:0.003:0.000:0.001:0.001:0.001:0.004:0.005:0.003:0.010:0.001:0.001 NULL HMMSmart_C2,superfamily_C2_CaLB,HMMPfam_C2,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT (deletion:cds_exon[43450342,43451694]) no_errors MAPK8IP2 23542 genome.wustl.edu 36 22 49388561 49388583 + Frame_Shift_Del DEL GCTCCTTCCAGGATGACTTCCAG GCTCCTTCCAGGATGACTTCCAG - novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 GCTCCTTCCAGGATGACTTCCAG GCTCCTTCCAGGATGACTTCCAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 22 49388561 49388583 GCTCCTTCCAGGATGACTTCCAG - DEL MAPK8IP2 ENST00000329492 human ensembl 54_36p +1 known frame_shift_del c.215_237 p.C72fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 NULL superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID (deletion:cds_exon[49388518,49388793]) no_errors ZCCHC12 170261 genome.wustl.edu 36 X 117844234 117844278 + In_Frame_Del DEL GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC - novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 X 117844234 117844278 GGAGATGCGTAGAGCCAGGAAGCGAAAACACACAATCCGCTGTTC - DEL ZCCHC12 NM_173798 human genbank 54_36p +1 provisional in_frame_del c.999_1043 p.EMRRARKRKHTIRCS334in_frame_del 0.000:0.000:0.002:0.001:0.003:0.253:0.536:0.602:0.666:0.718:0.777:0.794:0.790:0.764:0.774:0.917:0.958:0.970:0.979:0.980:0.975:0.958:0.937:0.863:0.549:0.523:0.429:0.112:0.011:0.008:0.005:0.005:0.007:0.005:0.006:0.011:0.011:0.015:0.030:0.047:0.064:0.068:0.058:0.059:0.051 NULL NULL (deletion:cds_exon[117843236,117844444]) no_errors BGLAP 632 genome.wustl.edu 36 1 154478982 154478982 + Frame_Shift_Del DEL G G - novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 154478982 154478982 G - DEL BGLAP NM_199173 human genbank 54_36p +1 validated frame_shift_del c.79 p.G27fs 0.000 NULL HMMSmart_SM00069,HMMPfam_Gla,superfamily_GLA-domain,PatternScan_GLA_1 (deletion:cds_exon[154478968,154479006]) no_errors ATP2B4 493 genome.wustl.edu 36 1 201956310 201956320 + Frame_Shift_Del DEL GCACAGATGTA GCACAGATGTA - novel unknown TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 GCACAGATGTA GCACAGATGTA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 81332463-a84e-4215-a4f4-c4e974a6f7bb 8a8b35ee-32bf-47dc-8fd8-7d0e97dd7b57 1 201956310 201956320 GCACAGATGTA - DEL ATP2B4 NM_001684 human genbank 54_36p +1 reviewed frame_shift_del c.2417_2427 p.T807fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:0.620 superfamily_Calcium ATPase transmembrane domain M,superfamily_HAD-like HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,HMMPfam_Hydrolase,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Cation_ATPase_C (deletion:cds_exon[201956300,201956491]) no_errors