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 Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks ref_context gc_content COSMIC_n_overlapping_mutations ESP_AvgAAsampleReadDepth ESP_AvgEAsampleReadDepth ESP_AvgSampleReadDepth ESP_Chromosome ESP_Position ESP_TotalAAsamplesCovered ESP_TotalEAsamplesCovered ESP_TotalSamplesCovered Ensembl_so_accession Ensembl_so_term HGNC_AccessionNumbers HGNC_CCDSIDs HGNC_Chromosome HGNC_DateModified HGNC_DateNameChanged HGNC_DateSymbolChanged HGNC_EnsemblGeneID HGNC_EnsemblIDsuppliedbyEnsembl HGNC_Genefamilydescription HGNC_HGNCID HGNC_LocusGroup HGNC_LocusType HGNC_NameSynonyms HGNC_OMIMIDsuppliedbyNCBI HGNC_PreviousNames HGNC_PreviousSymbols HGNC_PubmedIDs HGNC_RecordType HGNC_RefSeqsuppliedbyNCBI HGNC_Status HGNC_Synonyms HGNC_UCSCIDsuppliedbyUCSC HGNC_UniProtIDsuppliedbyUniProt HGNC_VEGAIDs HGVS_coding_DNA_change HGVS_genomic_change HGVS_protein_change UniProt_alt_uniprot_accessions annotation_transcript build ccds_id dbNSFP_1000Gp1_AC dbNSFP_1000Gp1_AF dbNSFP_1000Gp1_AFR_AC dbNSFP_1000Gp1_AFR_AF dbNSFP_1000Gp1_AMR_AC dbNSFP_1000Gp1_AMR_AF dbNSFP_1000Gp1_ASN_AC dbNSFP_1000Gp1_ASN_AF dbNSFP_1000Gp1_EUR_AC dbNSFP_1000Gp1_EUR_AF dbNSFP_Ancestral_allele dbNSFP_CADD_phred dbNSFP_CADD_raw dbNSFP_CADD_raw_rankscore dbNSFP_ESP6500_AA_AF dbNSFP_ESP6500_EA_AF dbNSFP_Ensembl_geneid dbNSFP_Ensembl_transcriptid dbNSFP_FATHMM_pred dbNSFP_FATHMM_rankscore dbNSFP_FATHMM_score dbNSFP_GERP_NR dbNSFP_GERP_RS dbNSFP_GERP_RS_rankscore dbNSFP_Interpro_domain dbNSFP_LRT_Omega dbNSFP_LRT_converted_rankscore dbNSFP_LRT_pred dbNSFP_LRT_score dbNSFP_LR_pred dbNSFP_LR_rankscore dbNSFP_LR_score dbNSFP_MutationAssessor_pred dbNSFP_MutationAssessor_rankscore dbNSFP_MutationAssessor_score dbNSFP_MutationTaster_converted_rankscore dbNSFP_MutationTaster_pred dbNSFP_MutationTaster_score dbNSFP_Polyphen2_HDIV_pred dbNSFP_Polyphen2_HDIV_rankscore dbNSFP_Polyphen2_HDIV_score dbNSFP_Polyphen2_HVAR_pred dbNSFP_Polyphen2_HVAR_rankscore dbNSFP_Polyphen2_HVAR_score dbNSFP_RadialSVM_pred dbNSFP_RadialSVM_rankscore dbNSFP_RadialSVM_score dbNSFP_Reliability_index dbNSFP_SIFT_converted_rankscore dbNSFP_SIFT_pred dbNSFP_SIFT_score dbNSFP_SLR_test_statistic dbNSFP_SiPhy_29way_logOdds dbNSFP_SiPhy_29way_logOdds_rankscore dbNSFP_SiPhy_29way_pi dbNSFP_UniSNP_ids dbNSFP_Uniprot_aapos dbNSFP_Uniprot_acc dbNSFP_Uniprot_id dbNSFP_aaalt dbNSFP_aapos dbNSFP_aapos_FATHMM dbNSFP_aapos_SIFT dbNSFP_aaref dbNSFP_cds_strand dbNSFP_codonpos dbNSFP_folddegenerate dbNSFP_genename dbNSFP_hg18_pos1coor dbNSFP_phastCons100way_vertebrate dbNSFP_phastCons100way_vertebrate_rankscore dbNSFP_phastCons46way_placental dbNSFP_phastCons46way_placental_rankscore dbNSFP_phastCons46way_primate dbNSFP_phastCons46way_primate_rankscore dbNSFP_phyloP100way_vertebrate dbNSFP_phyloP100way_vertebrate_rankscore dbNSFP_phyloP46way_placental dbNSFP_phyloP46way_placental_rankscore dbNSFP_phyloP46way_primate dbNSFP_phyloP46way_primate_rankscore dbNSFP_refcodon gencode_transcript_name gencode_transcript_status gencode_transcript_tags gencode_transcript_type gene_type havana_transcript init_n_lod init_t_lod isArtifactMode n_alt_count n_ref_count oxoGCut pox pox_cutoff qox refseq_mrna_id t_alt_count t_lod_fstar t_ref_count tumor_f PTPRB 0 broad.mit.edu hg19 12 71016404 71016404 + Silent SNP C C T TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr12:71016404C>T ENST00000334414.6 - 3 518 c.474G>A c.(472-474)tcG>tcA p.S158S PTPRB_ENST00000551525.1_Silent_p.S157S|PTPRB_ENST00000550358.1_Silent_p.S158S|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 2. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGCTCCTCACCGAAACTTCTG 0.418 0 31.0 33.0 32.0 12 71016404 1843 4086 5929 SO:0001819 synonymous_variant X54131 CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1 12q15-q21 2013-02-11 """Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing""" 9665 protein-coding gene gene with protein product 176882 PTPB 2169617 Standard NM_001109754 Approved uc001swc.4 P23467 OTTHUMG00000169499 ENST00000550358.1:c.474G>A 12.37:g.71016404C>T B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7 ENST00000550358.1 37 PTPRB-003 NOVEL basic|exp_conf protein_coding protein_coding OTTHUMT00000404436.1 16.976138 0 6 10 0 0 1 0 5 17.000342 4 0.555556 TCTN3 26123 broad.mit.edu hg19 10 97443174 97443174 + Silent SNP A A G TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr10:97443174A>G ENST00000371209.5 - 10 1307 c.1308T>C c.(1306-1308)caT>caC p.H436H TCTN3_ENST00000265993.9_Intron|TCTN3_ENST00000371217.5_Intron|TCTN3_ENST00000430368.2_Intron Q6NUS6 TECT3_HUMAN tectonic family member 3 0 apoptosis integral to membrane breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) CCTCATTATAATGAACAAAAA 0.353 0 SO:0001819 synonymous_variant AK098295 CCDS31258.2, CCDS44461.1 10q24.1 2014-01-28 2007-08-20 2007-08-20 ENSG00000119977 ENSG00000119977 """Tectonic proteins""" 24519 protein-coding gene gene with protein product 613847 """chromosome 10 open reading frame 61""" C10orf61 12975309 Standard NM_015631 Approved DKFZP564D116, TECT3, JBTS18 uc001klb.4 Q6NUS6 OTTHUMG00000018814 ENST00000371209.5:c.1308T>C 10.37:g.97443174A>G A6NIC8|B0QZ90|B4DR81|Q6P7P3|Q6UW27|Q6ZQQ0|Q8N7K1|Q8NBQ0|Q96GF7|Q9Y3U1 ENST00000371209.5 37 TCTN3-007 KNOWN basic protein_coding protein_coding OTTHUMT00000320230.2 6.348139 0 4 15 0 0 1 0 NM_015631 2 6.495673 4 0.333333 PCDHGA2 0 broad.mit.edu hg19 5 140719342 140719342 + Missense_Mutation SNP C C A TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr5:140719342C>A ENST00000394576.2 + 1 804 c.804C>A c.(802-804)gaC>gaA p.D268E PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCCACTGACGCAGATGAGG 0.507 2 86.0 94.0 91.0 5 140719342 2203 4300 6503 SO:0001583 missense AF152508 CCDS47289.1 5q31 2011-03-28 ENSG00000081853 ENSG00000081853 """Cadherins / Protocadherins : Clustered""" 8700 other protocadherin 606289 10380929 Standard NM_018915 Approved PCDH-GAMMA-A2 Q9Y5H1 OTTHUMG00000163679 ENST00000394576.2:c.804C>A 5.37:g.140719342C>A ENSP00000378077:p.Asp268Glu Q52LL6|Q9Y5D5 ENST00000394576.2 37 CCDS47289.1 . . . . . . . . . . . 11.09 1.535002 0.27475 . . ENSG00000081853 ENST00000394576 T 0.61392 0.11 5.17 -2.35 0.06684 Cadherin (5);Cadherin-like (1); 0.000000 0.43260 U 0.000585 D 0.84097 0.5397 H 0.99705 4.715 0.09310 N 0.999999 D;D 0.89917 1.0;1.0 D;D 0.85130 0.994;0.997 T 0.77429 -0.2591 10 0.87932 D 0 . 12.8677 0.57948 0.0:0.3663:0.0:0.6337 . 268;268 Q9Y5H1-2;Q9Y5H1 .;PCDG2_HUMAN E 268 ENSP00000378077:D268E ENSP00000378077:D268E D + 3 2 PCDHGA2 140699526 0.000000 0.05858 0.927000 0.36925 0.020000 0.10135 -2.278000 0.01159 -0.459000 0.07013 -0.218000 0.12543 GAC PCDHGA2-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000374738.1 144.572938 1 -5 128 0 1.41504e-22 1 1.47935e-22 NM_018915 45 144.582367 47 0.489130 COBL 23242 broad.mit.edu hg19 7 51095952 51095952 + Silent SNP T T C TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr7:51095952T>C ENST00000395542.2 - 12 3271 c.3087A>G c.(3085-3087)ggA>ggG p.G1029G COBL_ENST00000265136.7_Silent_p.G947G O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 947 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) TAGGAGGGGCTCCCACTGCCA 0.572 0 71.0 66.0 67.0 7 51095952 2203 4300 6503 SO:0001819 synonymous_variant AB014533 CCDS34637.1, CCDS75601.1, CCDS75602.1 7p12.2-p12.1 2012-12-07 2012-12-07 ENSG00000106078 ENSG00000106078 22199 protein-coding gene gene with protein product 610317 """cordon-bleu homolog (mouse)""" Standard NM_015198 Approved KIAA0633 uc003tpr.4 O75128 OTTHUMG00000155999 ENST00000265136.7:c.2841A>G 7.37:g.51095952T>C A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1 ENST00000265136.7 37 CCDS34637.1 COBL-001 KNOWN basic|appris_candidate|CCDS protein_coding protein_coding OTTHUMT00000342682.1 45.451620 0 -8 45 0 0 1 0 NM_015198 14 45.459726 13 0.518519 PDS5B 23047 broad.mit.edu hg19 13 33226028 33226028 + Missense_Mutation SNP G G C TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr13:33226028G>C ENST00000315596.10 + 3 382 c.196G>C c.(196-198)Gat>Cat p.D66H NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 66 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TCTTGCTTCAGATTTTTTTCT 0.373 0 147.0 142.0 143.0 13 33226028 1846 4098 5944 SO:0001583 missense AB023196 CCDS41878.1 13q12.3 2008-02-05 2007-07-18 2007-07-18 ENSG00000083642 ENSG00000083642 20418 protein-coding gene gene with protein product 605333 """androgen-induced proliferation inhibitor""" APRIN 8812419, 10215036 Standard NM_015032 Approved AS3, KIAA0979, FLJ23236, CG008 uc010abf.3 Q9NTI5 OTTHUMG00000016704 ENST00000315596.10:c.196G>C 13.37:g.33226028G>C ENSP00000313851:p.Asp66His Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451 ENST00000315596.10 37 CCDS41878.1 . . . . . . . . . . G 25.3 4.623932 0.87460 . . ENSG00000083642 ENST00000315596;ENST00000421084 . . . 5.59 5.59 0.84812 Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 T 0.72277 0.3440 L 0.41824 1.3 0.80722 D 1 D;D;D 0.69078 0.997;0.973;0.973 D;P;D 0.69654 0.965;0.807;0.919 T 0.66728 -0.5850 9 0.29301 T 0.29 -19.6766 19.961 0.97250 0.0:0.0:1.0:0.0 . 66;66;66 Q9NTI5;Q9NTI5-3;Q9NTI5-4 PDS5B_HUMAN;.;. H 66 . ENSP00000313851:D66H D + 1 0 PDS5B 32124028 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 9.655000 0.98512 2.783000 0.95769 0.655000 0.94253 GAT PDS5B-006 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000044428.3 165.368679 0 16 190 0 0 1 0 NM_015032 52 167.111695 85 0.379562 LRRC4B 94030 broad.mit.edu hg19 19 51021330 51021330 + Missense_Mutation SNP C C T TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr19:51021330C>T ENST00000599957.1 - 3 1837 c.1640G>A c.(1639-1641)cGg>cAg p.R547Q LRRC4B_ENST00000389201.3_Missense_Mutation_p.R547Q Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 547 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CTCCGTGGGCCGCGAGGAGCG 0.687 0 23.0 25.0 25.0 19 51021330 2049 4187 6236 SO:0001583 missense BC032460 CCDS42595.1 19q13.33 2014-01-30 2004-06-14 2004-06-16 ENSG00000131409 ENSG00000131409 """Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands""" 25042 protein-coding gene gene with protein product """netrin-G3 ligand""" """leucine-rich repeats and immunoglobulin-like domains 4""" LRIG4 11441184 Standard NM_001080457 Approved DKFZp761A179, HSM uc002pss.3 Q9NT99 ENST00000599957.1:c.1640G>A 19.37:g.51021330C>T ENSP00000471502:p.Arg547Gln Q3ZCQ4|Q58F20 ENST00000599957.1 37 CCDS42595.1 . . . . . . . . . . C 22.3 4.269678 0.80469 . . ENSG00000131409 ENST00000389201 T 0.60797 0.16 3.27 3.27 0.37495 . 0.000000 0.64402 U 0.000010 T 0.55305 0.1912 L 0.46614 1.455 0.41152 D 0.986037 D 0.53885 0.963 P 0.48114 0.567 T 0.59568 -0.7430 10 0.46703 T 0.11 . 12.3875 0.55340 0.0:1.0:0.0:0.0 . 547 Q9NT99 LRC4B_HUMAN Q 547 ENSP00000373853:R547Q ENSP00000373853:R547Q R - 2 0 LRRC4B 55713142 0.326000 0.24669 1.000000 0.80357 0.894000 0.52154 4.449000 0.60034 1.823000 0.53134 0.462000 0.41574 CGG LRRC4B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000464907.1 26.168968 0 -2 19 0 0 1 0 NM_001080457 9 26.711439 17 0.346154 GNA11 2767 broad.mit.edu hg19 19 3118942 3118942 + Missense_Mutation SNP A A T TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr19:3118942A>T ENST00000078429.4 + 5 868 c.626A>T c.(625-627)cAg>cTg p.Q209L AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR NM_002067.2 NP_002058.2 P29992 GNA11_HUMAN guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 209 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16) 161 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181) GTGGGGGGCCAGCGGTCGGAG 0.612 82 104.0 89.0 94.0 19 3118942 2203 4300 6503 SO:0001583 missense AF493900 CCDS12103.1 19p13.3 2014-02-04 ENSG00000088256 ENSG00000088256 4379 protein-coding gene gene with protein product 139313 """hypocalciuric hypercalcemia 2""" HHC2 1302014, 23802516 Standard NM_002067 Approved FBH, FBH2, FHH2 uc002lxd.3 P29992 OTTHUMG00000180631 ENST00000078429.4:c.626A>T 19.37:g.3118942A>T ENSP00000078429:p.Gln209Leu O15109|Q14350|Q6IB00 ENST00000078429.4 37 CCDS12103.1 . . . . . . . . . . . 15.05 2.718086 0.48622 . . ENSG00000088256 ENST00000078429 D 0.91237 -2.81 3.26 3.26 0.37387 . 0.000000 0.64402 U 0.000006 D 0.96950 0.9004 H 0.99357 4.53 0.80722 D 1 D 0.59767 0.986 D 0.68483 0.958 D 0.96823 0.9605 10 0.87932 D 0 . 10.7338 0.46113 1.0:0.0:0.0:0.0 . 209 P29992 GNA11_HUMAN L 209 ENSP00000078429:Q209L ENSP00000078429:Q209L Q + 2 0 GNA11 3069942 1.000000 0.71417 0.438000 0.26821 0.027000 0.11550 9.104000 0.94239 1.256000 0.44068 0.379000 0.24179 CAG GNA11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000452261.2 70.822005 0 -3 78 0 0 1 0 NM_002067 23 71.079042 31 0.425926 NFATC2 4773 broad.mit.edu hg19 20 50140605 50140605 + Missense_Mutation SNP C C T TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr20:50140605C>T ENST00000371564.3 - 2 394 c.175G>A c.(175-177)Gca>Aca p.A59T NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.A39T|NFATC2_ENST00000414705.1_Missense_Mutation_p.A39T|NFATC2_ENST00000396009.3_Missense_Mutation_p.A59T|NFATC2_ENST00000610033.1_Intron NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 59 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TCGGGGTATGCGGGTCCGGAG 0.592 2 49.0 57.0 54.0 20 50140605 2203 4300 6503 SO:0001583 missense U43342, U43341 CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1 20q13.2 2009-11-24 ENSG00000101096 ENSG00000101096 """Nuclear factor of activated T-cells""" 7776 protein-coding gene gene with protein product 600490 8202141 Standard NM_012340 Approved NF-ATP, NFATp, NFAT1 uc002xwd.4 Q13469 OTTHUMG00000032747 ENST00000396009.3:c.175G>A 20.37:g.50140605C>T ENSP00000379330:p.Ala59Thr B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2 ENST00000396009.3 37 CCDS13437.1 . . . . . . . . . . C 12.26 1.883442 0.33255 . . ENSG00000101096 ENST00000371564;ENST00000396009;ENST00000414705 T;T;T 0.14893 2.47;2.47;2.48 5.31 0.654 0.17833 . 1.029610 0.07687 N 0.938074 T 0.10165 0.0249 N 0.22421 0.69 0.09310 N 1 B;B;B;B 0.17268 0.016;0.016;0.016;0.021 B;B;B;B 0.09377 0.003;0.002;0.004;0.003 T 0.39522 -0.9610 10 0.23302 T 0.38 -0.1472 5.0295 0.14402 0.1161:0.4371:0.3411:0.1057 . 39;39;59;59 B5B2N9;B5B2P2;Q13469;B5B2N8 .;.;NFAC2_HUMAN;. T 59;59;39 ENSP00000360619:A59T;ENSP00000379330:A59T;ENSP00000396471:A39T ENSP00000360619:A59T A - 1 0 NFATC2 49574012 0.772000 0.28567 0.980000 0.43619 0.986000 0.74619 -0.193000 0.09573 0.184000 0.20083 0.313000 0.20887 GCA NFATC2-002 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000079730.2 -2.910972 0 2 67 0 0 1 0 NM_012340 3 6.932369 46 0.061224 MIR518A1 0 broad.mit.edu hg19 19 54233129 54233129 + RNA SNP T T G TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr19:54233129T>G ENST00000385252.1 + 0 38 NR_030209.1 GCGCTTTCTGTTGGCTAAAAG 0.423 0 79.0 76.0 77.0 19 54233129 1568 3582 5150 19q13.42 2011-09-12 2008-12-18 ENSG00000207803 ENSG00000207803 """ncRNAs / Micro RNAs""" 32120 non-coding RNA RNA, micro MIRN518A-1, MIRN518A1 Standard NR_030210 Approved hsa-mir-518a-1 uc021van.1 19.37:g.54233129T>G ENST00000385068.1 37 MIR518A1-201 KNOWN basic miRNA miRNA 192.559978 0 4 156 0 0 1 0 NR_030210 58 192.765311 48 0.547170 NLRP11 204801 broad.mit.edu hg19 19 56307611 56307611 + Missense_Mutation SNP A A G TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr19:56307611A>G ENST00000443188.1 - 8 2887 c.2177T>C c.(2176-2178)aTg>aCg p.M726T NLRP11_ENST00000589093.1_Missense_Mutation_p.M726T|NLRP11_ENST00000360133.3_Missense_Mutation_p.M672T|NLRP11_ENST00000589824.2_Missense_Mutation_p.M672T|NLRP11_ENST00000592953.1_Missense_Mutation_p.M627T NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 726 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ATCACATTTCATCAAGCTGTA 0.428 0 78.0 75.0 76.0 19 56307611 2203 4300 6503 SO:0001583 missense AY095145 CCDS12935.1, CCDS74458.1 19q13.43 2008-02-05 2006-12-08 2006-12-08 ENSG00000179873 """Nucleotide-binding domain and leucine rich repeat containing""" 22945 protein-coding gene gene with protein product """nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11""" 609664 """NACHT, leucine rich repeat and PYD containing 11""" NALP11 12563287, 12019269 Standard NM_145007 Approved PYPAF6, NOD17, PAN10, CLR19.6 uc010ygf.2 P59045 ENST00000589093.1:c.2177T>C 19.37:g.56307611A>G ENSP00000466285:p.Met726Thr C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5 ENST00000589093.1 37 CCDS12935.1 . . . . . . . . . . A 0.199 -1.046153 0.01997 . . ENSG00000179873 ENST00000443188;ENST00000360133 T;T 0.11712 2.75;2.75 2.38 -2.16 0.07080 . . . . . T 0.04497 0.0123 N 0.16790 0.44 0.09310 N 1 B;B 0.19073 0.033;0.019 B;B 0.24541 0.024;0.054 T 0.45352 -0.9267 9 0.13470 T 0.59 . 0.1628 0.00105 0.3169:0.2206:0.2466:0.216 . 726;672 P59045;P59045-2 NAL11_HUMAN;. T 726;672 ENSP00000409898:M726T;ENSP00000353251:M672T ENSP00000353251:M672T M - 2 0 NLRP11 60999423 0.000000 0.05858 0.000000 0.03702 0.005000 0.04900 -2.003000 0.01463 -0.657000 0.05373 0.533000 0.62120 ATG NLRP11-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000453657.1 105.972880 0 -11 100 0 0 1 0 NM_145007 33 105.985635 35 0.485294 PRSS16 10279 broad.mit.edu hg19 6 27222478 27222478 + Missense_Mutation SNP C C G TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr6:27222478C>G ENST00000230582.3 + 10 1172 c.1157C>G c.(1156-1158)aCc>aGc p.T386S PRSS16_ENST00000421826.2_Missense_Mutation_p.T129S|PRSS16_ENST00000377456.2_Intron NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 386 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 ACAGATGTCACCTGTGAGAAT 0.512 0 118.0 111.0 113.0 6 27222478 2203 4300 6503 SO:0001583 missense AF052514 CCDS4623.1 6p21 2010-05-07 ENSG00000112812 ENSG00000112812 """Serine peptidases / Serine peptidases""" 9480 protein-coding gene gene with protein product 607169 10527559 Standard NM_005865 Approved TSSP uc003nja.3 Q9NQE7 OTTHUMG00000016167 ENST00000230582.3:c.1157C>G 6.37:g.27222478C>G ENSP00000230582:p.Thr386Ser O75416 ENST00000230582.3 37 CCDS4623.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 20.7|20.7 4.031250|4.031250 0.75504|0.75504 .|. .|. ENSG00000112812|ENSG00000112812 ENST00000485993;ENST00000475106|ENST00000421826;ENST00000230582 .|T;T .|0.16073 .|2.37;2.37 4.68|4.68 4.68|4.68 0.58851|0.58851 .|. .|0.287924 .|0.38326 .|N .|0.001740 T|T 0.18130|0.18130 0.0435|0.0435 L|L 0.56340|0.56340 1.77|1.77 0.38406|0.38406 D|D 0.945797|0.945797 .|D;P .|0.76494 .|0.999;0.95 .|P;P .|0.61397 .|0.888;0.634 T|T 0.03268|0.03268 -1.1054|-1.1054 5|10 .|0.11794 .|T .|0.64 -35.2509|-35.2509 13.307|13.307 0.60357|0.60357 0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0 .|. .|129;386 .|F2Z2N5;Q9NQE7 .|.;TSSP_HUMAN Q|S 138;164|129;386 .|ENSP00000404349:T129S;ENSP00000230582:T386S .|ENSP00000230582:T386S H|T +|+ 3|2 2|0 PRSS16|PRSS16 27330457|27330457 1.000000|1.000000 0.71417|0.71417 1.000000|1.000000 0.80357|0.80357 0.963000|0.963000 0.63663|0.63663 3.527000|3.527000 0.53517|0.53517 2.607000|2.607000 0.88179|0.88179 0.557000|0.557000 0.71058|0.71058 CAC|ACC PRSS16-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043418.2 87.448015 0 18 110 0 0 1 0 29 91.854307 74 0.281553 ZNF229 7772 broad.mit.edu hg19 19 44933957 44933957 + Silent SNP G G A TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr19:44933957G>A ENST00000291187.4 - 6 1303 c.981C>T c.(979-981)aaC>aaT p.N327N ZNF229_ENST00000588931.1_Silent_p.N333N|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GTATGTGCGTGTTCTGTCTGA 0.502 0 65.0 63.0 63.0 19 44933957 1946 4155 6101 SO:0001819 synonymous_variant AF192979 CCDS42574.1, CCDS62706.1 19q13.2 2013-01-08 ENSG00000278318 """Zinc fingers, C2H2-type"", ""-""" 13022 protein-coding gene gene with protein product Standard XM_006723372 Approved uc002oze.1 Q9UJW7 ENST00000291187.4:c.981C>T 19.37:g.44933957G>A B2RWN3|Q59FV2|Q86WL9 ENST00000291187.4 37 ZNF229-001 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000460831.1 70.123836 0 -7 51 0 0 1 0 NM_014518 23 70.206213 19 0.547619 PRUNE2 158471 broad.mit.edu hg19 9 79322557 79322557 + Missense_Mutation SNP C C A TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr9:79322557C>A ENST00000428286.1 - 8 4756 c.3556G>T c.(3556-3558)Gca>Tca p.A1186S PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1545S Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1545 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GGACTTGATGCACTTGAATGA 0.448 0 68.0 59.0 62.0 9 79322557 1568 3582 5150 SO:0001583 missense BC019095 CCDS47982.1 9q21.32 2013-04-29 2006-11-24 2006-11-24 ENSG00000106772 ENSG00000106772 25209 protein-coding gene gene with protein product """olfaxin""" 610691 """chromosome 9 open reading frame 65"", ""KIAA0367""" C9orf65, KIAA0367 16288218 Standard NM_015225 Approved BMCC1, BNIPXL, A214N16.3, bA214N16.3 uc010mpk.3 Q8WUY3 OTTHUMG00000020047 ENST00000376718.3:c.4633G>T 9.37:g.79322557C>A ENSP00000365908:p.Ala1545Ser B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665 ENST00000376718.3 37 CCDS47982.1 .|. .|. .|. .|. .|. .|. .|. .|. .|. .|. C|C 18.17|18.17 3.563667|3.563667 0.65651|0.65651 .|. .|. ENSG00000106772|ENSG00000106772 ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088 T;T|. 0.55588|. 0.51;0.51|. 5.91|5.91 5.02|5.02 0.67125|0.67125 .|. 0.399646|. 0.21499|. N|. 0.073550|. T|T 0.69700|0.69700 0.3140|0.3140 M|M 0.62723|0.62723 1.935|1.935 0.80722|0.80722 D|D 1|1 D|. 0.54397|. 0.966|. P|. 0.48738|. 0.588|. T|T 0.68977|0.68977 -0.5267|-0.5267 10|5 0.72032|. D|. 0.01|. -3.8885|-3.8885 13.3784|13.3784 0.60752|0.60752 0.0:0.9275:0.0:0.0725|0.0:0.9275:0.0:0.0725 .|. 1545|. Q8WUY3|. PRUN2_HUMAN|. S|F 1545;1186;1544|866 ENSP00000365908:A1545S;ENSP00000397425:A1186S|. ENSP00000365908:A1545S|. A|C -|- 1|2 0|0 PRUNE2|PRUNE2 78512377|78512377 1.000000|1.000000 0.71417|0.71417 0.995000|0.995000 0.50966|0.50966 0.732000|0.732000 0.41865|0.41865 0.967000|0.967000 0.29344|0.29344 1.512000|1.512000 0.48834|0.48834 0.655000|0.655000 0.94253|0.94253 GCA|TGC PRUNE2-003 NOVEL basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052730.2 3.807471 1 2 42 0 0.115264 1 0.115264 NM_138818 3 7.105870 21 0.125000 GRIA1 0 broad.mit.edu hg19 5 153174266 153174266 + Missense_Mutation SNP G G A TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr5:153174266G>A ENST00000285900.5 + 14 2699 c.2356G>A c.(2356-2358)Gag>Aag p.E786K GRIA1_ENST00000518783.1_Missense_Mutation_p.E796K|GRIA1_ENST00000518142.1_Missense_Mutation_p.E706K|GRIA1_ENST00000521843.2_Missense_Mutation_p.E717K|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000448073.4_Intron NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 786 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) CGACAAGGGCGAGTGCGGCAG 0.448 0 58.0 60.0 60.0 5 153174266 2203 4300 6503 SO:0001583 missense CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1 5q33 2012-08-29 ENSG00000155511 ENSG00000155511 """Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors""" 4571 protein-coding gene gene with protein product 138248 GLUR1 1652753, 1319477 Standard NM_000827 Approved GluA1, GLURA uc011dcy.2 P42261 OTTHUMG00000130148 ENST00000518783.1:c.2386G>A 5.37:g.153174266G>A ENSP00000428994:p.Glu796Lys B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6 ENST00000518783.1 37 CCDS58987.1 . . . . . . . . . . G 21.8 4.206268 0.79127 . . ENSG00000155511 ENST00000285900;ENST00000518142;ENST00000521843;ENST00000544794;ENST00000518783 T;T;T;T;T 0.38077 1.16;1.16;1.16;1.16;1.16 5.17 5.17 0.71159 Ionotropic glutamate receptor (1); 0.000000 0.85682 D 0.000000 T 0.51618 0.1685 L 0.38733 1.17 0.80722 D 1 D;D;D 0.89917 1.0;0.997;0.995 D;P;P 0.83275 0.996;0.872;0.784 T 0.47736 -0.9094 10 0.45353 T 0.12 . 18.0139 0.89232 0.0:0.0:1.0:0.0 . 796;706;786 E7ESV8;B7Z3F6;P42261 .;.;GRIA1_HUMAN K 786;706;719;717;796 ENSP00000285900:E786K;ENSP00000427920:E706K;ENSP00000427864:E719K;ENSP00000442108:E717K;ENSP00000428994:E796K ENSP00000285900:E786K E + 1 0 GRIA1 153154459 1.000000 0.71417 1.000000 0.80357 0.999000 0.98932 9.585000 0.98223 2.574000 0.86865 0.650000 0.86243 GAG GRIA1-007 KNOWN basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000373902.3 32.079818 0 -24 32 0 0 1 0 11 32.427412 18 0.379310 MEFV 4210 broad.mit.edu hg19 16 3293588 3293588 + Silent SNP C C T TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr16:3293588C>T ENST00000219596.1 - 10 1938 c.1899G>A c.(1897-1899)ccG>ccA p.P633P MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 633 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 CAAATCTTTGCGGGCCATCAG 0.517 0 158.0 170.0 166.0 16 3293588 2197 4300 6497 SO:0001819 synonymous_variant AF018080 CCDS10498.1, CCDS55981.1 16p13.3 2014-09-17 ENSG00000103313 ENSG00000103313 """Tripartite motif containing / Tripartite motif containing""" 6998 protein-coding gene gene with protein product """pyrin""" 608107 MEF 9288094 Standard NM_000243 Approved FMF, TRIM20 uc002cun.1 O15553 OTTHUMG00000129324 ENST00000339854.4:c.1359G>A 16.37:g.3293588C>T D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5 ENST00000339854.4 37 MEFV-010 PUTATIVE basic|exp_conf protein_coding protein_coding OTTHUMT00000398510.1 -46.116794 0 -7 227 0 0 1 0 NM_000243 5 7.722011 208 0.023474 KIR3DL2 3812 broad.mit.edu hg19 19 55363677 55363677 + Missense_Mutation SNP C C T TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr19:55363677C>T ENST00000326321.3 + 3 328 c.295C>T c.(295-297)Cgc>Tgc p.R99C KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.R99C NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 99 Ig-like C2-type 1. cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) TCGGGGTTCACGCCCACACTC 0.592 0 65.0 59.0 61.0 19 55363677 2162 4125 6287 SO:0001583 missense L41270 CCDS12906.1, CCDS58677.1 19q13.4 2014-05-22 ENSG00000240403 ENSG00000240403 """Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 6339 protein-coding gene gene with protein product 604947 7716543, 8662091 Standard NM_006737 Approved cl-5, nkat4, nkat4a, nkat4b, CD158K uc002qho.4 P43630 OTTHUMG00000065935 ENST00000326321.3:c.295C>T 19.37:g.55363677C>T ENSP00000325525:p.Arg99Cys Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368 ENST00000326321.3 37 CCDS12906.1 . . . . . . . . . . c 7.544 0.661200 0.14645 . . ENSG00000240403 ENST00000326321;ENST00000270442 T;T 0.00753 5.74;5.74 1.62 -3.23 0.05109 Immunoglobulin subtype (1);Immunoglobulin-like fold (1); 3.044860 0.02291 U 0.070352 T 0.00724 0.0024 L 0.35854 1.095 0.09310 N 1 P;B 0.49090 0.919;0.006 B;B 0.35899 0.213;0.009 T 0.45175 -0.9279 10 0.72032 D 0.01 . 3.3555 0.07168 0.0:0.428:0.2244:0.3475 . 99;99 Q95366;P43630 .;KI3L2_HUMAN C 99 ENSP00000325525:R99C;ENSP00000270442:R99C ENSP00000270442:R99C R + 1 0 KIR3DL2 60055489 0.000000 0.05858 0.000000 0.03702 0.019000 0.09904 -2.084000 0.01363 -1.094000 0.03054 0.184000 0.17185 CGC KIR3DL2-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000141241.1 83.191360 0 15 83 0 0 1 0 28 83.360764 35 0.444444 CHCHD10 400916 broad.mit.edu hg19 22 24108202 24108202 + Silent SNP G G A TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr22:24108202G>A ENST00000484558.2 - 4 989 c.421C>T c.(421-423)Ctg>Ttg p.L141L CHCHD10_ENST00000401675.3_Silent_p.L148L|CHCHD10_ENST00000520222.1_3'UTR Q8WYQ3 CHC10_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 10 141 mitochondrion large_intestine(2)|lung(1) 3 CTTCAGGGCAGGGAGCTCAGA 0.657 0 33.0 31.0 32.0 22 24108202 2203 4300 6503 SO:0001819 synonymous_variant AB050774 CCDS13815.1 22q11.23 2011-03-28 2008-06-13 2008-06-13 ENSG00000250479 ENSG00000250479 """Coiled-coil-helix-coiled-coil-helix domain containing""" 15559 protein-coding gene gene with protein product 615903 """chromosome 22 open reading frame 16""" C22orf16 Standard XM_006724241 Approved N27C7-4 uc002zxw.3 Q8WYQ3 OTTHUMG00000150736 ENST00000484558.2:c.421C>T 22.37:g.24108202G>A A8K0J5 ENST00000484558.2 37 CCDS13815.1 . . . . . . . . . . G 9.291 1.050523 0.19827 . . ENSG00000250479 ENST00000521886 . . . 4.4 4.4 0.53042 . . . . . T 0.64549 0.2608 . . . 0.80722 D 1 . . . . . . T 0.63051 -0.6723 4 . . . -18.9032 13.2546 0.60070 0.0:0.0:1.0:0.0 . . . . L 89 . . P - 2 0 CHCHD10 22438202 1.000000 0.71417 0.998000 0.56505 0.933000 0.57130 1.565000 0.36386 2.400000 0.81607 0.485000 0.47835 CCT CHCHD10-001 KNOWN basic|exp_conf|CCDS protein_coding protein_coding OTTHUMT00000319870.2 2.301463 0 -3 22 0 0 1 0 NM_213720 3 7.097725 27 0.100000 SULT6B1 391365 broad.mit.edu hg19 2 37398631 37398631 + Missense_Mutation SNP G G A TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr2:37398631G>A ENST00000535679.1 - 6 726 c.727C>T c.(727-729)Cgt>Tgt p.R243C SULT6B1_ENST00000407963.1_Missense_Mutation_p.R205C|SULT6B1_ENST00000260637.3_Missense_Mutation_p.R205C|SULT6B1_ENST00000379149.2_Missense_Mutation_p.R139C Q6IMI4 ST6B1_HUMAN sulfotransferase family, cytosolic, 6B, member 1 243 cytoplasm sulfotransferase activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1) 12 all_hematologic(82;0.248) GACTTCGCACGCATGGCTTGG 0.483 0 145.0 138.0 141.0 2 37398631 2203 4300 6503 SO:0001583 missense AY289770, AY289774 CCDS33182.1 2p22.2 2007-07-26 ENSG00000138068 ENSG00000138068 """Sulfotransferases, cytosolic""" 33433 protein-coding gene gene with protein product 14676822 Standard XM_005264307 Approved uc002rpu.3 Q6IMI4 OTTHUMG00000152160 ENST00000407963.1:c.613C>T 2.37:g.37398631G>A ENSP00000384950:p.Arg205Cys B2RTS7 ENST00000407963.1 37 CCDS33182.1 . . . . . . . . . . G 13.71 2.319512 0.41096 . . ENSG00000138068 ENST00000535679;ENST00000379149;ENST00000260637;ENST00000407963 D;D;D;D 0.84944 -1.92;-1.92;-1.92;-1.92 4.71 0.231 0.15377 Sulfotransferase domain (1); 0.346678 0.27851 N 0.017600 D 0.86789 0.6017 M 0.73962 2.25 0.39269 D 0.964353 D 0.57571 0.98 P 0.49953 0.627 D 0.88133 0.2839 10 0.87932 D 0 . 13.4678 0.61266 0.0:0.0:0.2675:0.7325 . 243 Q6IMI4 ST6B1_HUMAN C 243;139;205;205 ENSP00000444081:R243C;ENSP00000368444:R139C;ENSP00000260637:R205C;ENSP00000384950:R205C ENSP00000260637:R205C R - 1 0 SULT6B1 37252135 0.139000 0.22563 0.857000 0.33713 0.230000 0.25150 0.294000 0.19047 0.181000 0.19994 -0.293000 0.09583 CGT SULT6B1-001 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000325505.1 -18.998931 0 14 130 0 0 1 0 NM_001032377 4 7.223372 108 0.035714 HDLBP 3069 broad.mit.edu hg19 2 242169044 242169044 + Missense_Mutation SNP T T C TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr2:242169044T>C ENST00000391975.1 - 28 4006 c.3779A>G c.(3778-3780)aAg>aGg p.K1260R HDLBP_ENST00000427183.2_Missense_Mutation_p.K1227R|HDLBP_ENST00000391976.2_Missense_Mutation_p.K1260R|HDLBP_ENST00000310931.4_Missense_Mutation_p.K1260R NM_203346.3 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 1260 cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) AGGGAGGGTCTTGGGAGCCAC 0.557 0 99.0 101.0 100.0 2 242169044 2203 4300 6503 SO:0001583 missense CCDS2547.1, CCDS58760.1 2q37.3 2008-07-18 2008-07-18 ENSG00000115677 ENSG00000115677 4857 protein-coding gene gene with protein product 142695 """vigilin""" VGL 1318310, 8390966 Standard NM_005336 Approved HBP uc002waz.3 Q00341 OTTHUMG00000133391 ENST00000391975.1:c.3779A>G 2.37:g.242169044T>C ENSP00000375836:p.Lys1260Arg B4DTQ2|E7EM71|Q53QU2|Q9UCY3 ENST00000391975.1 37 CCDS2547.1 . . . . . . . . . . T 9.248 1.040131 0.19669 . . ENSG00000115677 ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183 T;T;T;T 0.19394 2.16;2.16;2.16;2.15 5.75 5.75 0.90469 . 0.091629 0.85682 N 0.000000 T 0.18551 0.0445 L 0.40543 1.245 0.53688 D 0.999979 B;B 0.26635 0.155;0.007 B;B 0.24269 0.052;0.004 T 0.05632 -1.0873 10 0.13108 T 0.6 -43.8366 16.0671 0.80891 0.0:0.0:0.0:1.0 . 1227;1260 E7EM71;Q00341 .;VIGLN_HUMAN R 1260;1260;1260;1227 ENSP00000375836:K1260R;ENSP00000375837:K1260R;ENSP00000312042:K1260R;ENSP00000399139:K1227R ENSP00000312042:K1260R K - 2 0 HDLBP 241817717 1.000000 0.71417 1.000000 0.80357 0.086000 0.17979 6.151000 0.71806 2.192000 0.70111 0.460000 0.39030 AAG HDLBP-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000257245.5 0.960431 0 -1 50 0 0 1 0 NM_203346 4 9.693637 45 0.081633 EIF1AX 1964 broad.mit.edu hg19 X 20152122 20152122 + Missense_Mutation SNP A A T TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chrX:20152122A>T ENST00000379607.5 - 4 411 c.208T>A c.(208-210)Tgg>Agg p.W70R EIF1AX_ENST00000379593.1_Missense_Mutation_p.W42R NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked 70 S1-like. cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 GTATTTATCCAAACCTACAAA 0.323 0 55.0 47.0 49.0 X 20152122 2203 4300 6503 SO:0001583 missense L18960 CCDS14196.1 Xp22.13 2014-02-19 2002-11-28 2004-05-26 ENSG00000173674 ENSG00000173674 3250 protein-coding gene gene with protein product 300186 """eukaryotic translation initiation factor 1A, X chromosome""" EIF4C, EIF1A 8106356, 9381176 Standard NM_001412 Approved eIF-1A, eIF-4C uc004czt.3 P47813 OTTHUMG00000022704 ENST00000379607.5:c.208T>A X.37:g.20152122A>T ENSP00000368927:p.Trp70Arg B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6 ENST00000379607.5 37 CCDS14196.1 . . . . . . . . . . A 22.5 4.303181 0.81136 . . ENSG00000173674 ENST00000379607;ENST00000379593 T;T 0.52057 0.68;0.68 5.64 5.64 0.86602 Nucleic acid-binding, OB-fold-like (1);RNA-binding domain, S1, IF1 type (2);Nucleic acid-binding, OB-fold (1); . . . . T 0.76442 0.3988 H 0.94345 3.525 0.80722 D 1 D 0.76494 0.999 D 0.81914 0.995 D 0.83363 0.0003 9 0.87932 D 0 -3.1686 13.4291 0.61044 1.0:0.0:0.0:0.0 . 70 P47813 IF1AX_HUMAN R 70;42 ENSP00000368927:W70R;ENSP00000368912:W42R ENSP00000368912:W42R W - 1 0 EIF1AX 20062043 1.000000 0.71417 1.000000 0.80357 0.960000 0.62799 8.481000 0.90437 1.888000 0.54679 0.486000 0.48141 TGG EIF1AX-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058913.1 143.627102 0 -58 68 0 0 1 0 41 151.294154 4 0.911111 FAT1 2195 broad.mit.edu hg19 4 187542653 187542653 + Missense_Mutation SNP G G A TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr4:187542653G>A ENST00000441802.2 - 10 5296 c.5087C>T c.(5086-5088)tCa>tTa p.S1696L NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1696 Cadherin 15. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ATACACCACTGATGATTGACT 0.388 0 116.0 112.0 114.0 4 187542653 1865 4116 5981 SO:0001583 missense X87241 CCDS47177.1 4q35.2 2013-05-31 2013-05-31 2008-10-30 ENSG00000083857 ENSG00000083857 """Cadherins / Cadherin-related""" 3595 protein-coding gene gene with protein product """cadherin-related family member 8""" 600976 """FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)""" FAT 8586420 Standard XM_005262834 Approved CDHF7, CDHR8 uc003izf.3 Q14517 OTTHUMG00000160320 ENST00000441802.2:c.5087C>T 4.37:g.187542653G>A ENSP00000406229:p.Ser1696Leu ENST00000441802.2 37 CCDS47177.1 . . . . . . . . . . G 22.7 4.325464 0.81580 . . ENSG00000083857 ENST00000441802;ENST00000260147 T 0.02631 4.22 4.99 4.99 0.66335 Cadherin (4);Cadherin-like (1); 0.000000 0.85682 D 0.000000 T 0.08891 0.0220 L 0.33093 0.98 0.80722 D 1 D 0.63880 0.993 D 0.67548 0.952 T 0.44651 -0.9314 10 0.30854 T 0.27 . 18.8314 0.92141 0.0:0.0:1.0:0.0 . 1696 Q14517 FAT1_HUMAN L 1696;1698 ENSP00000406229:S1696L ENSP00000260147:S1698L S - 2 0 FAT1 187779647 1.000000 0.71417 1.000000 0.80357 0.879000 0.50718 9.601000 0.98297 2.751000 0.94390 0.650000 0.86243 TCA FAT1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000360209.3 -5.324288 0 -5 79 0 0 1 0 NM_005245 3 6.453752 53 0.053571 ZNF839 55778 ucsc.edu hg19 14 102802138 102802138 + Missense_Mutation SNP T T C TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 T T Unknown Untested Somatic Phase_I WXS none Illumina HiSeq 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 AGTTCTGGTCTGTGTTCCCAG 0.398 0 87.0 81.0 83.0 14 102802138 1841 4087 5928 SO:0001583 missense AK093342 CCDS45164.1, CCDS58336.1 14q32.32 2010-05-06 2008-06-23 2008-06-23 ENSG00000022976 ENSG00000022976 20345 protein-coding gene gene with protein product """chromosome 14 open reading frame 131""" C14orf131 Standard NM_018335 Approved uc010awk.2 A8K0R7 ENST00000442396.2:c.1622T>C 14.37:g.102802138T>C ENSP00000399863:p.Leu541Pro B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3 ENST00000442396.2 37 CCDS45164.1 . . . . . . . . . . T 13.17 2.157787 0.38119 . . ENSG00000022976 ENST00000442396;ENST00000262236;ENST00000398436 T;T 0.19532 2.14;2.15 5.15 1.71 0.24356 . 0.780131 0.11778 N 0.530467 T 0.10937 0.0267 N 0.16130 0.375 0.09310 N 1 B;B;B;B 0.09022 0.002;0.0;0.0;0.0 B;B;B;B 0.10450 0.005;0.0;0.001;0.0 T 0.27054 -1.0085 10 0.45353 T 0.12 . 4.0925 0.09976 0.1593:0.3954:0.0:0.4453 . 541;425;304;425 A8K0R7-5;A8K0R7-2;Q9NT83;A8K0R7 .;.;.;ZN839_HUMAN P 541;425;93 ENSP00000399863:L541P;ENSP00000262236:L425P ENSP00000262236:L425P L + 2 0 ZNF839 101871891 0.000000 0.05858 0.003000 0.11579 0.216000 0.24613 0.481000 0.22260 0.522000 0.28464 -0.508000 0.04489 CTG ZNF839-012 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000415560.1 18 50 NM_018335 4 26 UNC79 57578 broad.mit.edu hg19 14 94089125 94089139 + In_Frame_Del DEL AGAGAGAGTACCTCG AGAGAGAGTACCTCG - TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr14:94089125_94089139delAGAGAGAGTACCTCG ENST00000553484.1 + 31 5766_5780 c.5612_5626delAGAGAGAGTACCTCG c.(5611-5628)cagagagagtacctcgac>cac p.1871_1876QREYLD>H UNC79_ENST00000555664.1_In_Frame_Del_p.1849_1854QREYLD>H|UNC79_ENST00000256339.4_In_Frame_Del_p.1672_1677QREYLD>H|UNC79_ENST00000393151.2_In_Frame_Del_p.1849_1854QREYLD>H Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1849 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 AGTGCTATCCAGAGAGAGTACCTCGACATCTCCTT 0.460 2 SO:0001651 inframe_deletion AB037830 CCDS9911.2 14q32.13 2011-08-18 2011-08-18 2011-08-18 ENSG00000133958 ENSG00000133958 19966 protein-coding gene gene with protein product """KIAA1409""" KIAA1409 20714347, 21040849 Standard NM_020818 Approved uc001ybs.1 Q9P2D8 OTTHUMG00000029783 ENST00000256339.4:c.5015_5029delAGAGAGAGTACCTCG 14.37:g.94089125_94089139delAGAGAGAGTACCTCG ENSP00000256339:p.Gln1672_Asp1677delinsHis B5MDL6|Q6ZUT7 ENST00000256339.4 37 CCDS9911.2 UNC79-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000074288.2 . . -13 45 XM_028395 8 23 0.26 BAGE2 85319 broad.mit.edu hg19 21 11085920 11085922 + RNA DEL ACC ACC - rs36147384 TCGA-V3-A9ZY-01A-11D-A39W-08 TCGA-V3-A9ZY-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx 5c1306ea-e47d-41ca-b7c0-f85b470f1751 6da09e74-73cc-43d7-9a35-50633c69b8a9 g.chr21:11085920_11085922delACC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccactaccaccaccacca 0.547 0 AF218570 21p 2009-03-13 ENSG00000187172 ENSG00000187172 15723 protein-coding gene gene with protein product """cancer/testis antigen family 2, member 2""" 12461691 Standard NM_182482 Approved CT2.2 Q86Y30 OTTHUMG00000074128 21.37:g.11085929_11085931delACC A8K925|Q08ER0 ENST00000470054.1 37 BAGE2-001 KNOWN basic processed_transcript pseudogene OTTHUMT00000157417.3 . . 2 7 NM_182482 2 4 0.33