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 GPR101 83550 broad.mit.edu hg19 X 136113492 136113492 + Silent SNP G G A TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 g.chrX:136113492G>A ENST00000298110.1 - 1 341 c.342C>T c.(340-342)ttC>ttT p.F114F NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 114 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) TGGCGAAGGCGAACAGGTGGG 0.622 0 77.0 57.0 63.0 X 136113492 2203 4300 6503 SO:0001819 synonymous_variant AF411115 CCDS14662.1 Xq26.3 2014-01-30 ENSG00000165370 ENSG00000165370 """GPCR / Class A : Orphans""" 14963 protein-coding gene gene with protein product 300393 11574155 Standard NM_054021 Approved uc011mwh.2 Q96P66 OTTHUMG00000022521 ENST00000298110.1:c.342C>T X.37:g.136113492G>A Q5JSM8|Q8NG93 ENST00000298110.1 37 CCDS14662.1 GPR101-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000058519.1 45.655241 0 -7 24 0 0 1 0 14 46.015072 8 0.636364 UBR5 51366 broad.mit.edu hg19 8 103289313 103289313 + Silent SNP A A G TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 g.chr8:103289313A>G ENST00000520539.1 - 45 7002 c.6396T>C c.(6394-6396)acT>acC p.T2132T UBR5_ENST00000521922.1_Silent_p.T2126T|UBR5_ENST00000220959.4_Silent_p.T2132T NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2132 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TTGAACTCTCAGTTTCTTCTG 0.423 0 186.0 170.0 175.0 8 103289313 2203 4300 6503 SO:0001819 synonymous_variant AF006010 CCDS34933.1, CCDS64946.1 8q22 2008-06-23 2007-06-19 2007-06-19 ENSG00000104517 ENSG00000104517 """Ubiquitin protein ligase E3 component n-recognins""" 16806 protein-coding gene gene with protein product 608413 """E3 ubiquitin protein ligase, HECT domain containing, 1""" EDD1 10030672, 16055722 Standard NM_015902 Approved DD5, HYD, EDD, KIAA0896 uc003ykr.2 O95071 OTTHUMG00000164755 ENST00000521922.1:c.6378T>C 8.37:g.103289313A>G B2RP24|J3KMW7|O94970|Q9NPL3 ENST00000521922.1 37 UBR5-003 NOVEL basic|appris_candidate|exp_conf protein_coding protein_coding OTTHUMT00000380199.1 142.772287 0 -36 88 0 0 1 0 NM_015902 51 146.413256 101 0.335526 TRAV3 0 broad.mit.edu hg19 14 22192114 22192114 + RNA SNP C C T TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 g.chr14:22192114C>T ENST00000390425.2 + 0 155 CAATCCCGCCCGCCGTGAGCT 0.587 0 115.0 115.0 115.0 14 22192114 1935 4126 6061 AE000658 14q11.2 2012-02-07 2008-09-12 ENSG00000211777 ENSG00000211777 """T cell receptors / TRA locus""" 12128 other T cell receptor gene """T cell receptor alpha variable 3""" 8188290 Standard NG_001332 Approved OTTHUMG00000168981 14.37:g.22192114C>T ENST00000390425.2 37 TRAV3-001 KNOWN mRNA_end_NF|cds_end_NF|basic|appris_principal TR_V_gene TR_V_gene OTTHUMT00000401876.1 -5.155015 0 19 128 0 0 1 0 NG_001332 4 8.432654 63 0.059701 SSX5 6758 broad.mit.edu hg19 X 48054516 48054516 + Missense_Mutation SNP C C G TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 g.chrX:48054516C>G ENST00000311798.1 - 3 171 c.119G>C c.(118-120)aGt>aCt p.S40T SSX5_ENST00000376923.1_Intron|SSX5_ENST00000347757.1_Intron NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 23 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 CCAGAACGGACTGAGATTCAC 0.537 0 84.0 74.0 78.0 X 48054516 2203 4299 6502 SO:0001583 missense BC016640 CCDS14288.1, CCDS14289.1 Xp11.23 2008-02-05 ENSG00000165583 ENSG00000165583 11339 protein-coding gene gene with protein product 300327 Standard NM_021015 Approved uc004diz.1 O60225 OTTHUMG00000021471 ENST00000311798.1:c.119G>C X.37:g.48054516C>G ENSP00000312415:p.Ser40Thr Q5JQ59|Q5JQ60|Q96AW3 ENST00000311798.1 37 CCDS14288.1 . . . . . . . . . . N 0 -2.791560 0.00077 . . ENSG00000165583 ENST00000311798 T 0.09630 2.96 0.843 -1.69 0.08186 . . . . . T 0.05868 0.0153 . . . 0.09310 N 1 B 0.02656 0.0 B 0.08055 0.003 T 0.38866 -0.9641 7 0.33940 T 0.23 . . . . . 40 O60225-2 . T 40 ENSP00000312415:S40T ENSP00000312415:S40T S - 2 0 SSX5 47939460 0.001000 0.12720 0.001000 0.08648 0.004000 0.04260 -0.102000 0.10956 -0.826000 0.04284 -1.180000 0.01717 AGT SSX5-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000056465.1 89.840436 0 -20 68 0 0 1 0 NM_021015 29 92.911887 65 0.308511 TSC22D3 1831 broad.mit.edu hg19 X 107018505 107018505 + Silent SNP G G T TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 g.chrX:107018505G>T ENST00000372383.4 - 1 512 c.145C>A c.(145-147)Cgg>Agg p.R49R TSC22D3_ENST00000514426.1_5'UTR|TSC22D3_ENST00000506081.1_Silent_p.R49R|TSC22D3_ENST00000372384.2_Silent_p.R49R|TSC22D3_ENST00000315660.4_Silent_p.R49R NM_198057.2 NP_932174.1 Q99576 T22D3_HUMAN TSC22 domain family, member 3 0 AP1-binding (By similarity). sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2)|lung(3) 6 TGCAGCTGCCGAAAGTTGCTC 0.607 0 82.0 68.0 73.0 X 107018505 2203 4300 6503 SO:0001819 synonymous_variant Z50781 CCDS14530.1, CCDS14531.1, CCDS35365.1 Xq22.3 2008-02-15 2005-03-01 2005-03-03 ENSG00000157514 ENSG00000157514 3051 protein-coding gene gene with protein product """glucocorticoid-induced leucine zipper""" 300506 """delta sleep inducing peptide, immunoreactor""" DSIPI 8982256 Standard XM_005262098 Approved DIP, GILZ, TSC-22R, hDIP uc004enh.3 Q99576 OTTHUMG00000022168 ENST00000372383.4:c.145C>A X.37:g.107018505G>T Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13 ENST00000372383.4 37 CCDS14530.1 TSC22D3-004 KNOWN basic|CCDS protein_coding protein_coding OTTHUMT00000057846.2 153.109964 1 -47 69 0 2.74224e-37 1 3.00341e-37 NM_198057 48 153.631065 34 0.585366 FCGR2A 2212 broad.mit.edu hg19 1 161487879 161487879 + Missense_Mutation SNP G G T TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 g.chr1:161487879G>T ENST00000271450.6 + 7 933 c.895G>T c.(895-897)Gat>Tat p.D299Y FCGR2A_ENST00000367972.4_Missense_Mutation_p.D298Y|FCGR2A_ENST00000486608.1_3'UTR|RP11-25K21.6_ENST00000537821.2_RNA NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 299 integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) ACCTACTGACGATGATAAAAA 0.443 1 70.0 70.0 70.0 1 161487879 2202 4293 6495 SO:0001583 missense J03619 CCDS30922.1, CCDS44264.1 1q23 2013-01-11 2005-02-02 ENSG00000143226 ENSG00000143226 """CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing""" 3616 protein-coding gene gene with protein product """Immunoglobulin G Fc receptor II""" 146790 """Fc fragment of IgG, low affinity IIa, receptor for (CD32)""" FCG2, FCGR2A1, FCGR2 2139735 Standard NM_021642 Approved CD32, CD32A, IGFR2, CDw32 uc001gan.3 P12318 OTTHUMG00000034469 ENST00000271450.6:c.895G>T 1.37:g.161487879G>T ENSP00000271450:p.Asp299Tyr Q8WUN1|Q8WW64 ENST00000271450.6 37 CCDS44264.1 . . . . . . . . . . . 8.527 0.870108 0.17322 . . ENSG00000143226 ENST00000367972;ENST00000271450;ENST00000537821;ENST00000461298 T;T 0.02682 4.2;4.2 0.565 -0.483 0.12075 . 5.152060 0.01233 U 0.008401 T 0.01800 0.0057 N 0.08118 0 0.25218 N 0.989926 D;D 0.89917 0.999;1.0 D;D 0.87578 0.995;0.998 T 0.44112 -0.9349 8 0.66056 D 0.02 . . . . . 299;298 P12318;P12318-2 FCG2A_HUMAN;. Y 298;299;34;34 ENSP00000356949:D298Y;ENSP00000271450:D299Y ENSP00000271450:D299Y D + 1 0 FCGR2A 159754503 0.000000 0.05858 0.003000 0.11579 0.003000 0.03518 -0.132000 0.10467 -0.258000 0.09446 -0.251000 0.11542 GAT FCGR2A-001 KNOWN basic|appris_candidate_longest|CCDS protein_coding protein_coding OTTHUMT00000083318.3 47.594395 1 -41 46 0 5.61819e-17 1 5.61819e-17 NM_021642 16 48.530766 30 0.347826 GALE 2582 ucsc.edu hg19 1 24123572 24123572 + Silent SNP A A G TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 A A Unknown Untested Somatic Phase_I WXS none Illumina HiSeq a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 GGGGATCCTCACCAATGCAGC 0.587 0 78.0 65.0 69.0 1 24123572 2203 4300 6503 SO:0001819 synonymous_variant BC050685 CCDS242.1 1p36-p35 2012-10-02 2004-11-17 ENSG00000117308 ENSG00000117308 """Short chain dehydrogenase/reductase superfamily / Extended SDR fold""" 4116 protein-coding gene gene with protein product """short chain dehydrogenase/reductase family 1E, member 1"", ""UDP-glucose 4-epimerase""" 606953 """galactose-4-epimerase, UDP-""" 8593531, 19027726 Standard NM_001127621 Approved SDR1E1 uc009vqo.1 Q14376 OTTHUMG00000002958 ENST00000374497.3:c.594T>C 1.37:g.24123572A>G ENST00000374497.3 37 CCDS242.1 GALE-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000008232.1 0 16 NM_000403 4 15 ZAN 7455 broad.mit.edu hg19 7 100345181 100345181 + RNA SNP C C T TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 g.chr7:100345181C>T ENST00000542585.1 + 0 1088 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGGGAGTATCCGGAAACACAC 0.517 0 105.0 99.0 101.0 7 100345181 1971 4137 6108 U83191 7q22.1 2013-10-10 2013-10-10 ENSG00000146839 ENSG00000146839 12857 protein-coding gene gene with protein product 602372 """zonadhesin""" 9799793, 17033959 Standard NM_003386 Approved uc003uwk.3 Q9Y493 OTTHUMG00000157037 7.37:g.100345181C>T A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88 ENST00000348028.3 37 . . . . . . . . . . C 14.71 2.616430 0.46736 . . ENSG00000146839 ENST00000546292;ENST00000538115;ENST00000542585 T;T;T 0.02236 4.38;4.38;4.38 4.19 2.37 0.29283 Concanavalin A-like lectin/glucanase (1);MAM domain (3); 0.631401 0.13198 N 0.406231 T 0.03783 0.0107 M 0.79475 2.455 0.80722 D 1 P;P 0.38729 0.591;0.644 B;B 0.35931 0.136;0.214 T 0.39251 -0.9623 10 0.87932 D 0 . 5.1566 0.15038 0.2039:0.691:0.0:0.1051 . 314;314 F5H0T8;Q9Y493 .;ZAN_HUMAN W 314 ENSP00000445943:R314W;ENSP00000445091:R314W;ENSP00000444427:R314W ENSP00000423579:R314W R + 1 2 ZAN 100183117 1.000000 0.71417 0.998000 0.56505 0.437000 0.31866 1.130000 0.31393 0.696000 0.31696 0.650000 0.86243 CGG ZAN-006 KNOWN basic polymorphic_pseudogene polymorphic_pseudogene OTTHUMT00000347214.1 46.517687 0 -5 67 0 0 1 0 NM_003386 15 46.972240 24 0.384615 TFAP2B 7021 broad.mit.edu hg19 6 50805696 50805696 + Missense_Mutation SNP C C T TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 g.chr6:50805696C>T ENST00000263046.4 + 6 1023 c.857C>T c.(856-858)tCg>tTg p.S286L TFAP2B_ENST00000393655.3_Missense_Mutation_p.S277L Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 277 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) AGAGCCAAATCGAAAAATGGG 0.428 0 83.0 94.0 90.0 6 50805696 2203 4300 6503 SO:0001583 missense X95694 CCDS4934.2 6p12 2008-02-05 2001-11-28 ENSG00000008196 ENSG00000008196 11743 protein-coding gene gene with protein product 601601 """transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)""" 7555706, 8661133 Standard NM_003221 Approved AP2-B uc003pag.3 Q92481 OTTHUMG00000014836 ENST00000393655.3:c.830C>T 6.37:g.50805696C>T ENSP00000377265:p.Ser277Leu Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3 ENST00000393655.3 37 CCDS4934.2 . . . . . . . . . . C 34 5.315280 0.95655 . . ENSG00000008196 ENST00000393655;ENST00000263046 D;D 0.97041 -4.22;-4.22 5.63 5.63 0.86233 Transcription factor AP-2, C-terminal (2); 0.000000 0.85682 D 0.000000 D 0.98741 0.9577 M 0.88842 2.985 0.80722 D 1 D 0.71674 0.998 D 0.79108 0.992 D 0.99338 1.0911 10 0.87932 D 0 -11.5258 20.0471 0.97613 0.0:1.0:0.0:0.0 . 277 Q92481 AP2B_HUMAN L 277;286 ENSP00000377265:S277L;ENSP00000263046:S286L ENSP00000263046:S286L S + 2 0 TFAP2B 50913655 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.776000 0.85560 2.815000 0.96918 0.561000 0.74099 TCG TFAP2B-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000040886.3 5.233562 0 -44 86 0 0 1 0 NM_003221 11 24.883518 107 0.093220 SF3B1 23451 broad.mit.edu hg19 2 198267360 198267360 + Missense_Mutation SNP T T G TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 g.chr2:198267360T>G ENST00000335508.6 - 14 2088 c.1997A>C c.(1996-1998)aAg>aCg p.K666T NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TTGTACAATCTTAATACCAGT 0.413 19 116.0 116.0 116.0 2 198267360 2203 4300 6503 SO:0001583 missense AF054284 CCDS33356.1, CCDS46479.1 2q33.1 2014-09-17 2002-08-29 ENSG00000115524 ENSG00000115524 10768 protein-coding gene gene with protein product 605590 """splicing factor 3b, subunit 1, 155kD""" 9585501 Standard XM_005246428 Approved SAP155, SF3b155, PRPF10, Prp10, Hsh155 uc002uue.3 O75533 OTTHUMG00000154447 ENST00000335508.6:c.1997A>C 2.37:g.198267360T>G ENSP00000335321:p.Lys666Thr E9PCH3 ENST00000335508.6 37 CCDS33356.1 . . . . . . . . . . T 26.4 4.736206 0.89482 . . ENSG00000115524 ENST00000335508 T 0.65549 -0.16 5.68 5.68 0.88126 Armadillo-like helical (1);Armadillo-type fold (1); 0.000000 0.85682 D 0.000000 D 0.85208 0.5644 H 0.95645 3.7 0.80722 D 1 D 0.89917 1.0 D 0.79108 0.992 D 0.89754 0.3942 10 0.87932 D 0 . 15.938 0.79729 0.0:0.0:0.0:1.0 . 666 O75533 SF3B1_HUMAN T 666 ENSP00000335321:K666T ENSP00000335321:K666T K - 2 0 SF3B1 197975605 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 7.877000 0.87225 2.167000 0.68274 0.459000 0.35465 AAG SF3B1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000335245.2 91.199480 0 -9 60 0 0 1 0 28 91.199480 28 0.500000 FAT4 79633 broad.mit.edu hg19 4 126373735 126373735 + Missense_Mutation SNP C C T TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 g.chr4:126373735C>T ENST00000394329.3 + 9 11577 c.11564C>T c.(11563-11565)gCg>gTg p.A3855V FAT4_ENST00000335110.5_Missense_Mutation_p.A2153V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3855 EGF-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCAGGATATGCGGGTAGCTGG 0.473 2 89.0 89.0 89.0 4 126373735 2203 4300 6503 SO:0001583 missense AY356402 CCDS3732.3 4q28.1 2013-05-31 2013-05-31 ENSG00000196159 ENSG00000196159 """Cadherins / Cadherin-related""" 23109 protein-coding gene gene with protein product """cadherin-related family member 11""" 612411 """FAT tumor suppressor homolog 4 (Drosophila)""" 15003449 Standard NM_024582 Approved CDHF14, FAT-J, CDHR11 uc003ifj.4 Q6V0I7 OTTHUMG00000133100 ENST00000394329.3:c.11564C>T 4.37:g.126373735C>T ENSP00000377862:p.Ala3855Val A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6 ENST00000394329.3 37 CCDS3732.3 . . . . . . . . . . C 11.18 1.563763 0.27915 . . ENSG00000196159 ENST00000394329;ENST00000335110 D;D 0.91792 -2.91;-2.39 5.41 5.41 0.78517 Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1); 0.627735 0.12030 U 0.506062 T 0.82056 0.4954 N 0.11023 0.085 0.09310 N 1 P;P;P 0.37997 0.516;0.614;0.516 B;B;B 0.28139 0.086;0.038;0.086 T 0.73701 -0.3900 10 0.37606 T 0.19 . 12.3484 0.55134 0.285:0.715:0.0:0.0 . 2153;3855;3855 Q6V0I7-2;Q6V0I7;Q6V0I7-3 .;FAT4_HUMAN;. V 3855;2153 ENSP00000377862:A3855V;ENSP00000335169:A2153V ENSP00000335169:A2153V A + 2 0 FAT4 126593185 0.206000 0.23470 0.011000 0.14972 0.505000 0.33919 3.842000 0.55858 2.527000 0.85204 0.561000 0.74099 GCG FAT4-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000256765.2 29.504346 0 2 42 0 0 1 0 NM_024582 11 32.180581 34 0.244444 LRRC66 339977 broad.mit.edu hg19 4 52861873 52861873 + Missense_Mutation SNP C C G TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 g.chr4:52861873C>G ENST00000343457.3 - 4 1321 c.1315G>C c.(1315-1317)Gag>Cag p.E439Q NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 439 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 AGATGGGTCTCTGGGTGTGGT 0.547 0 108.0 115.0 113.0 4 52861873 2055 4191 6246 SO:0001583 missense BC040414 CCDS43229.1 4q12 2008-08-08 ENSG00000188993 ENSG00000188993 34299 protein-coding gene gene with protein product Standard XM_005265739 Approved uc003gzi.3 Q68CR7 OTTHUMG00000160623 ENST00000343457.3:c.1315G>C 4.37:g.52861873C>G ENSP00000341944:p.Glu439Gln ENST00000343457.3 37 CCDS43229.1 . . . . . . . . . . C 6.511 0.462436 0.12342 . . ENSG00000188993 ENST00000343457 T 0.41758 0.99 4.5 -4.04 0.04010 . 1.367370 0.04698 N 0.415285 T 0.22085 0.0532 N 0.08118 0 0.09310 N 1 B 0.23937 0.094 B 0.21708 0.036 T 0.31530 -0.9940 10 0.51188 T 0.08 -0.1784 7.5302 0.27679 0.1576:0.5978:0.0:0.2446 . 439 Q68CR7 LRC66_HUMAN Q 439 ENSP00000341944:E439Q ENSP00000341944:E439Q E - 1 0 LRRC66 52556630 0.000000 0.05858 0.000000 0.03702 0.001000 0.01503 -1.180000 0.03088 -0.311000 0.08754 -0.474000 0.04947 GAG LRRC66-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000361473.1 125.899902 0 3 132 0 0 1 0 NM_001024611 42 130.755490 97 0.302158 DLL1 28514 broad.mit.edu hg19 6 170594480 170594480 + Nonsense_Mutation SNP G G T TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 g.chr6:170594480G>T ENST00000366756.3 - 7 1227 c.894C>A c.(892-894)tgC>tgA p.C298* NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 298 EGF-like 3. cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) CTCCATTCTTGCAGGGCTTAT 0.547 0 149.0 127.0 134.0 6 170594480 2203 4300 6503 SO:0001587 stop_gained AF003522 CCDS5313.1 6q13-q22.33 2008-07-28 2001-12-03 ENSG00000198719 ENSG00000198719 2908 protein-coding gene gene with protein product 606582 """delta (Drosophila)-like 1""" Standard NM_005618 Approved uc003qxm.3 O00548 OTTHUMG00000016078 ENST00000366756.3:c.894C>A 6.37:g.170594480G>T ENSP00000355718:p.Cys298* B2RAK7|B5M0B3|Q9NU41|Q9UJV2 ENST00000366756.3 37 CCDS5313.1 . . . . . . . . . . G 39 7.640945 0.98406 . . ENSG00000198719 ENST00000366756 . . . 5.08 1.65 0.23941 . 0.000000 0.85682 D 0.000000 . . . . . . 0.80722 A 1 . . . . . . . . . . 0.02654 T 1 . 10.2723 0.43489 0.2274:0.0:0.7726:0.0 . . . . X 298 . ENSP00000355718:C298X C - 3 2 DLL1 170436405 1.000000 0.71417 0.973000 0.42090 0.986000 0.74619 2.293000 0.43558 0.100000 0.17581 -0.471000 0.05019 TGC DLL1-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000043254.1 94.409052 1 -6 51 0 1.88708e-17 1 1.97286e-17 29 95.545806 14 0.674419 GNAQ 2776 broad.mit.edu hg19 9 80409488 80409488 + Missense_Mutation SNP T T G rs121913492 TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 g.chr9:80409488T>G ENST00000286548.4 - 5 848 c.626A>C c.(625-627)cAa>cCa p.Q209P GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 209 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 CTCTGACCTTTGGCCCCCTAC 0.348 153 108.0 105.0 106.0 9 80409488 2203 4300 6503 SO:0001583 missense CCDS6658.1 9q21 2010-03-17 ENSG00000156052 ENSG00000156052 4390 protein-coding gene gene with protein product 600998 8825633 Standard NM_002072 Approved G-ALPHA-q, GAQ uc004akw.3 P50148 OTTHUMG00000020059 ENST00000286548.4:c.626A>C 9.37:g.80409488T>G ENSP00000286548:p.Gln209Pro O15108|Q13462|Q6NT27|Q92471|Q9BZB9 ENST00000286548.4 37 CCDS6658.1 . . . . . . . . . . T 25.2 4.614273 0.87359 . . ENSG00000156052 ENST00000286548;ENST00000397476 D;D 0.91237 -2.81;-2.81 5.69 5.69 0.88448 . 0.000000 0.85682 D 0.000000 D 0.97164 0.9073 H 0.97291 3.975 0.80722 D 1 D 0.76494 0.999 D 0.85130 0.997 D 0.98607 1.0661 10 0.87932 D 0 . 15.9502 0.79827 0.0:0.0:0.0:1.0 . 209 P50148 GNAQ_HUMAN P 209;7 ENSP00000286548:Q209P;ENSP00000443197:Q7P ENSP00000286548:Q209P Q - 2 0 GNAQ 79599308 1.000000 0.71417 0.999000 0.59377 0.995000 0.86356 8.040000 0.89188 2.167000 0.68274 0.460000 0.39030 CAA GNAQ-001 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000052761.1 57.705608 0 -22 90 0 0 1 0 NM_002072 19 59.234369 39 0.327586 SNX18 112574 broad.mit.edu hg19 5 53839202 53839202 + Missense_Mutation SNP A A G TCGA-V4-A9E5-01A-11D-A39W-08 TCGA-V4-A9E5-10A-01D-A39Z-08 Unknown Untested Somatic Phase_I WXS none Illumina GAIIx a5d231e0-a1cb-491f-aefe-5b9013e11d6c e246f8fd-514c-4062-9a56-d9f7dd8c8e05 g.chr5:53839202A>G ENST00000381410.4 + 2 2005 c.1815A>G c.(1813-1815)atA>atG p.I605M SNX18_ENST00000343017.6_3'UTR NM_001102575.1 NP_001096045.1 Q96RF0 SNX18_HUMAN sorting nexin 18 458 BAR. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 18 Lung NSC(810;3.46e-05)|Breast(144;0.102) AACAAATAATATTTTTCCAAA 0.348 0 60.0 58.0 59.0 5 53839202 1826 4084 5910 SO:0001583 missense AF395536 CCDS3962.1, CCDS43317.1, CCDS54851.1 5q11.2 2010-05-12 2008-03-11 2008-03-11 ENSG00000178996 ENSG00000178996 """Sorting nexins""" 19245 protein-coding gene gene with protein product """sorting nexin associated golgi protein 1""" SNAG1 16782399, 17761170 Standard NM_052870 Approved SH3PX2, SH3PXD3B uc003jpi.4 Q96RF0 OTTHUMG00000096994 ENST00000381410.4:c.1815A>G 5.37:g.53839202A>G ENSP00000370817:p.Ile605Met B4E2B3|H7BXX3|Q05BB3|Q0VG02 ENST00000381410.4 37 CCDS43317.1 . . . . . . . . . . A 10.81 1.455669 0.26161 . . ENSG00000178996 ENST00000381410 T 0.13778 2.56 5.71 4.54 0.55810 . . . . . T 0.12433 0.0302 . . . 0.80722 D 1 B 0.32693 0.38 B 0.35550 0.205 T 0.08472 -1.0720 8 0.48119 T 0.1 . 6.1392 0.20251 0.5818:0.1552:0.0:0.263 . 605 Q96RF0-2 . M 605 ENSP00000370817:I605M ENSP00000370817:I605M I + 3 3 SNX18 53874959 1.000000 0.71417 1.000000 0.80357 0.998000 0.95712 1.763000 0.38461 0.963000 0.38082 0.528000 0.53228 ATA SNX18-002 KNOWN basic|appris_principal|CCDS protein_coding protein_coding OTTHUMT00000214073.2 22.548956 0 -10 78 0 0 1 0 9 26.519998 37 0.195652