#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
FBXO18	84893	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	5979128	5979128	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr10:5979128G>A	ENST00000362091.4	+	21	3132	c.3017G>A	c.(3016-3018)cGc>cAc	p.R1006H	RP11-536K7.3_ENST00000397264.4_RNA|FBXO18_ENST00000379999.5_Missense_Mutation_p.R1057H|FBXO18_ENST00000397269.3_Missense_Mutation_p.R510H	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1006					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCGGAGCAGCGCATCGGGCCC	0.622																																																0													37.0	42.0	40.0					10																	5979128		2203	4300	6503	SO:0001583	missense	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.3017G>A	10.37:g.5979128G>A	ENSP00000355415:p.Arg1006His		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.349907	0.82132	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	.	.	.	5.24	4.33	0.51752	.	0.109688	0.64402	D	0.000018	T	0.66228	0.2768	L	0.32530	0.975	0.47245	D	0.999363	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.981;0.981	T	0.69771	-0.5055	9	0.72032	D	0.01	-13.8651	14.7741	0.69703	0.0:0.1457:0.8543:0.0	.	1057;1006;932	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	H	510;1006;1057	.	ENSP00000355415:R1006H	R	+	2	0	FBXO18	6019134	1.000000	0.71417	0.402000	0.26371	0.972000	0.66771	5.473000	0.66774	1.187000	0.43000	0.536000	0.68110	CGC		0.622	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807		13	32	13	32
FGFR2	2263	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	123256167	123256167	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr10:123256167G>T	ENST00000358487.5	-	13	2014	c.1742C>A	c.(1741-1743)cCa>cAa	p.P581Q	FGFR2_ENST00000369060.4_Missense_Mutation_p.P465Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.P582Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.P582Q|FGFR2_ENST00000478859.1_Missense_Mutation_p.P353Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.P579Q|FGFR2_ENST00000351936.6_Missense_Mutation_p.P579Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.P493Q|FGFR2_ENST00000357555.5_Missense_Mutation_p.P492Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.P464Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.P469Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.P467Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	581	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CATCCCGGGTGGCCTCCGGGC	0.532		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																														Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0													143.0	141.0	142.0					10																	123256167		2203	4300	6503	SO:0001583	missense	2263	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1742C>A	10.37:g.123256167G>T	ENSP00000351276:p.Pro581Gln		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897567	0.91962	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93465	0.7915	L	0.45051	1.395	0.80722	D	1	P;P;P;D;D;B;D;D	0.76494	0.877;0.94;0.918;0.994;0.997;0.137;0.999;0.997	P;P;P;D;D;B;D;D	0.69824	0.822;0.907;0.808;0.91;0.927;0.082;0.938;0.966	D	0.94171	0.7423	10	0.87932	D	0	.	18.9702	0.92712	0.0:0.0:1.0:0.0	.	598;580;492;464;581;493;582;484	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	Q	492;582;469;581;464;465;467;173;579;582;579;493;582;582;490	ENSP00000350166:P492Q;ENSP00000358057:P469Q;ENSP00000351276:P581Q;ENSP00000348559:P464Q;ENSP00000358056:P465Q;ENSP00000358055:P467Q;ENSP00000404219:P173Q;ENSP00000263451:P579Q;ENSP00000410294:P582Q;ENSP00000309878:P579Q;ENSP00000353262:P493Q;ENSP00000358052:P582Q;ENSP00000358054:P582Q;ENSP00000337665:P490Q	ENSP00000337665:P490Q	P	-	2	0	FGFR2	123246157	1.000000	0.71417	0.953000	0.39169	0.962000	0.63368	9.743000	0.98849	2.464000	0.83262	0.549000	0.68633	CCA		0.532	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		59	78	59	78
MUC5B	727897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	1270916	1270916	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:1270916C>T	ENST00000529681.1	+	31	12864	c.12806C>T	c.(12805-12807)cCg>cTg	p.P4269L	MUC5B_ENST00000447027.1_Missense_Mutation_p.P4272L|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4269	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGGCCACCCCGTCCTCCACC	0.642																																																0													121.0	141.0	134.0					11																	1270916		2093	4190	6283	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12806C>T	11.37:g.1270916C>T	ENSP00000436812:p.Pro4269Leu		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	5.001	0.185957	0.09495	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.19532	2.14;2.33	2.59	-1.08	0.09936	.	.	.	.	.	T	0.18882	0.0453	M	0.64404	1.975	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.33420	-0.9869	9	0.87932	D	0	.	4.2221	0.10563	0.1575:0.5137:0.0:0.3288	.	4742;4272	A7Y9J9;E9PBJ0	.;.	L	4269;4272;4213;4119;48	ENSP00000436812:P4269L;ENSP00000415793:P4272L	ENSP00000343037:P4213L	P	+	2	0	MUC5B	1227492	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-2.482000	0.00981	-0.157000	0.11059	0.064000	0.15345	CCG		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		52	217	52	217
SAA4	6291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	18253209	18253209	+	Missense_Mutation	SNP	C	C	T	rs201435531		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:18253209C>T	ENST00000278222.4	-	4	413	c.233G>A	c.(232-234)cGt>cAt	p.R78H	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2	P35542	SAA4_HUMAN	serum amyloid A4, constitutive	78					acute-phase response (GO:0006953)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GACCCTGGAACGGCTGCAACC	0.488																																																0													54.0	53.0	53.0					11																	18253209		2199	4293	6492	SO:0001583	missense	6291			M81349	CCDS7832.1	11p15.1-p14	2008-07-21			ENSG00000148965	ENSG00000148965			10516	protein-coding gene	gene with protein product		104752				8325654	Standard	NM_006512		Approved	C-SAA, CSAA		P35542	OTTHUMG00000166483	ENST00000278222.4:c.233G>A	11.37:g.18253209C>T	ENSP00000278222:p.Arg78His		Q6FHJ4	Missense_Mutation	SNP	ENST00000278222.4	37	CCDS7832.1	.	.	.	.	.	.	.	.	.	.	C	9.534	1.111533	0.20714	.	.	ENSG00000148965	ENST00000278222	T	0.09445	2.98	2.86	0.199	0.15175	.	.	.	.	.	T	0.05181	0.0138	N	0.19112	0.55	0.09310	N	1	P	0.47350	0.894	B	0.36567	0.228	T	0.32348	-0.9910	9	0.56958	D	0.05	.	3.0811	0.06262	0.0:0.1712:0.267:0.5617	.	78	P35542	SAA4_HUMAN	H	78	ENSP00000278222:R78H	ENSP00000278222:R78H	R	-	2	0	SAA4	18209785	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.464000	0.21988	-0.093000	0.12396	-0.373000	0.07131	CGT		0.488	SAA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389988.1	NM_006512		19	32	19	32
OR5A1	219982	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	59211422	59211422	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:59211422G>A	ENST00000302030.2	+	1	806	c.781G>A	c.(781-783)Gtg>Atg	p.V261M		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AGCCCTTTTCGTGTACTTGCG	0.537																																																0													266.0	216.0	233.0					11																	59211422		2201	4295	6496	SO:0001583	missense	219982			AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.781G>A	11.37:g.59211422G>A	ENSP00000303096:p.Val261Met		B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	G	0.279	-0.987373	0.02180	.	.	ENSG00000172320	ENST00000302030	T	0.00051	8.81	5.98	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.328676	0.26847	N	0.022182	T	0.00073	0.0002	N	0.11870	0.19	0.18873	N	0.999987	B	0.06786	0.001	B	0.08055	0.003	T	0.28170	-1.0052	10	0.02654	T	1	-14.1546	5.7187	0.17974	0.6697:0.0:0.0703:0.2599	.	261	Q8NGJ0	OR5A1_HUMAN	M	261	ENSP00000303096:V261M	ENSP00000303096:V261M	V	+	1	0	OR5A1	58967998	0.010000	0.17322	1.000000	0.80357	0.857000	0.48899	0.791000	0.26915	0.492000	0.27815	-0.295000	0.09555	GTG		0.537	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		134	187	134	187
SUV420H1	51111	hgsc.bcm.edu;broad.mit.edu	37	11	67941292	67941292	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:67941292T>C	ENST00000304363.4	-	6	985	c.632A>G	c.(631-633)aAa>aGa	p.K211R	SUV420H1_ENST00000402789.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402185.2_Missense_Mutation_p.K188R|SUV420H1_ENST00000401547.2_Missense_Mutation_p.K211R|SUV420H1_ENST00000405515.1_Missense_Mutation_p.K211R	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	211	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAACTATTTTGGCTCCATT	0.299																																																0													114.0	105.0	108.0					11																	67941292		2198	4293	6491	SO:0001583	missense	51111			AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.632A>G	11.37:g.67941292T>C	ENSP00000305899:p.Lys211Arg		B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.954599	0.92726	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000533271	D;D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06;-2.06	5.33	5.33	0.75918	SET domain (1);	0.000000	0.85682	D	0.000000	D	0.89726	0.6798	L	0.48260	1.515	0.80722	D	1	D;P;D;D	0.89917	0.992;0.85;0.996;1.0	D;P;D;D	0.87578	0.948;0.775;0.987;0.998	D	0.90193	0.4251	10	0.54805	T	0.06	-34.2585	15.6036	0.76646	0.0:0.0:0.0:1.0	.	188;211;211;211	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	R	211;211;211;211;188;39	ENSP00000305899:K211R;ENSP00000385965:K211R;ENSP00000385640:K211R;ENSP00000385005:K211R;ENSP00000384724:K188R;ENSP00000433589:K39R	ENSP00000305899:K211R	K	-	2	0	SUV420H1	67697868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.256000	0.72473	2.157000	0.67596	0.482000	0.46254	AAA		0.299	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		6	76	6	76
PPP6R3	55291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	68337357	68337357	+	Silent	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:68337357T>C	ENST00000393800.2	+	11	1524	c.1270T>C	c.(1270-1272)Tta>Cta	p.L424L	PPP6R3_ENST00000393801.3_Silent_p.L424L|PPP6R3_ENST00000529710.1_Silent_p.L373L|PPP6R3_ENST00000265636.5_Silent_p.L373L|PPP6R3_ENST00000265637.4_Silent_p.L424L|PPP6R3_ENST00000524904.1_Silent_p.L424L|PPP6R3_ENST00000524845.1_Silent_p.L424L|PPP6R3_ENST00000393799.2_Silent_p.L424L|PPP6R3_ENST00000534534.1_Silent_p.L192L|PPP6R3_ENST00000527403.2_Silent_p.L424L	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	424					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TAATTTGTTATTAAAACATGT	0.373																																																0													163.0	152.0	156.0					11																	68337357		2200	4294	6494	SO:0001819	synonymous_variant	55291			AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.1270T>C	11.37:g.68337357T>C			Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	CCDS53672.1																																																																																				0.373	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		82	96	82	96
SHBG	6462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7535330	7535330	+	Silent	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr17:7535330T>C	ENST00000380450.4	+	6	880	c.849T>C	c.(847-849)gaT>gaC	p.D283D	SHBG_ENST00000576728.1_Silent_p.D171D|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000574539.1_Silent_p.D225D|SHBG_ENST00000416273.3_Silent_p.D283D|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000575903.1_Silent_p.D265D|SHBG_ENST00000572262.1_Silent_p.D171D|SHBG_ENST00000575314.1_Silent_p.D225D|SHBG_ENST00000340624.5_Silent_p.D225D	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	283	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				primary spermatocyte growth (GO:0007285)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	androgen binding (GO:0005497)	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Drostanolone(DB00858)|Estradiol(DB00783)|Estropipate(DB04574)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Methyltestosterone(DB06710)|Mitotane(DB00648)|Norethindrone(DB00717)|Spironolactone(DB00421)|Testosterone(DB00624)|transdermal testosterone gel(DB05275)	ACCTCCAAGATCAAGTAAAGG	0.542																																																2	Unknown(1)|Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)|bone(1)											99.0	103.0	102.0					17																	7535330		2203	4300	6503	SO:0001819	synonymous_variant	6462				CCDS11117.1, CCDS54082.1, CCDS54083.1, CCDS58513.1, CCDS73961.1, CCDS73962.1	17p13.1	2013-09-19			ENSG00000129214	ENSG00000129214			10839	protein-coding gene	gene with protein product	"""androgen binding protein"""	182205				2587256	Standard	NM_001146279		Approved	ABP, TEBG, MGC126834, MGC138391	uc002gie.2	P04278	OTTHUMG00000108153	ENST00000380450.4:c.849T>C	17.37:g.7535330T>C			B0FWH4|E9PGW1|F5H5Z8|I3L1N7|P14689|Q16616|Q3MIL0|Q6ISD2	Silent	SNP	ENST00000380450.4	37	CCDS11117.1																																																																																				0.542	SHBG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226957.2	NM_001040		21	144	21	144
TNFRSF13B	23495	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	16852148	16852148	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr17:16852148C>T	ENST00000261652.2	-	3	361	c.349G>A	c.(349-351)Gag>Aag	p.E117K	TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.E71K|TNFRSF13B_ENST00000437538.2_Missense_Mutation_p.E71K|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.E117K|TNFRSF13B_ENST00000581616.2_5'UTR	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	117					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CTCCTGAGCTCTGGTGGAAGG	0.522									IgA Deficiency, Selective																																							0													202.0	183.0	190.0					17																	16852148		2203	4300	6503	SO:0001583	missense	23495	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.349G>A	17.37:g.16852148C>T	ENSP00000261652:p.Glu117Lys		B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Missense_Mutation	SNP	ENST00000261652.2	37	CCDS11181.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577084	0.28092	.	.	ENSG00000240505	ENST00000437538;ENST00000261652	D;D	0.93247	-3.19;-3.14	4.96	2.86	0.33363	.	0.835188	0.10440	N	0.674420	D	0.91885	0.7431	M	0.64997	1.995	0.09310	N	1	B;P;P	0.38677	0.267;0.642;0.51	B;B;B	0.38458	0.058;0.274;0.142	T	0.82499	-0.0427	10	0.51188	T	0.08	-9.3972	12.1779	0.54196	0.0:0.6387:0.3613:0.0	.	117;71;117	B7Z6V8;O14836-2;O14836	.;.;TR13B_HUMAN	K	71;117	ENSP00000413453:E71K;ENSP00000261652:E117K	ENSP00000261652:E117K	E	-	1	0	TNFRSF13B	16792873	0.008000	0.16893	0.017000	0.16124	0.181000	0.23173	0.785000	0.26830	0.541000	0.28827	0.650000	0.86243	GAG		0.522	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			87	128	87	128
OR7D2	162998	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	9296887	9296887	+	Silent	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:9296887C>T	ENST00000344248.2	+	1	609	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	144					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTGTGGCCTCCTGGTTTTTGT	0.478																																																0													147.0	141.0	143.0					19																	9296887		2203	4300	6503	SO:0001819	synonymous_variant	162998			AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.430C>T	19.37:g.9296887C>T			Q6IFJ7|Q8N133	Silent	SNP	ENST00000344248.2	37	CCDS32900.1																																																																																				0.478	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			19	227	19	227
P2RY11	5032	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	10224314	10224314	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:10224314A>T	ENST00000321826.4	+	2	209	c.25A>T	c.(25-27)Aag>Tag	p.K9*	PPAN-P2RY11_ENST00000393796.4_Nonsense_Mutation_p.K429*|PPAN-P2RY11_ENST00000428358.1_Silent_p.P449P|PPAN_ENST00000556468.1_Nonsense_Mutation_p.K429*|P2RY11_ENST00000471843.1_3'UTR	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	9					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CACAGGTGCCAAGTCCTGCCC	0.617											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0													54.0	54.0	54.0					19																	10224314		2203	4300	6503	SO:0001587	stop_gained	56342			AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.25A>T	19.37:g.10224314A>T	ENSP00000323872:p.Lys9*	663	B2R8X9|O43190|Q9BYU4|Q9H170	Nonsense_Mutation	SNP	ENST00000321826.4	37	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.148777	0.57151	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	.	.	.	3.97	-6.88	0.01665	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	11.1794	0.48618	0.1792:0.7024:0.0:0.1184	.	.	.	.	X	429;429;9	.	ENSP00000323872:K9X	K	+	1	0	PPAN;P2RY11;PPAN-P2RY11	10085314	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.828000	0.04419	-1.774000	0.01288	-0.478000	0.04885	AAG		0.617	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		15	30	15	30
FDX1L	112812	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	10421614	10421614	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:10421614C>T	ENST00000393708.3	-	4	328	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.A104T|ZGLP1_ENST00000403352.1_5'Flank|FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000541276.1_Missense_Mutation_p.A107T|ZGLP1_ENST00000403903.3_5'Flank|FDX1L_ENST00000494368.1_5'UTR	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like	104	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GCTTCACAGGCCCCTAGGGGT	0.617																																																0													39.0	35.0	36.0					19																	10421614		2203	4300	6503	SO:0001583	missense	112812			AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299	ENST00000393708.3:c.310G>A	19.37:g.10421614C>T	ENSP00000377311:p.Ala104Thr		Q8N8B8	Missense_Mutation	SNP	ENST00000393708.3	37	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992894	0.74703	.	.	ENSG00000167807	ENST00000541276;ENST00000393708	.	.	.	4.8	4.8	0.61643	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82084	-0.0632	9	0.66056	D	0.02	-20.803	15.3471	0.74346	0.0:1.0:0.0:0.0	.	104	Q6P4F2	ADXL_HUMAN	T	107;104	.	ENSP00000377311:A104T	A	-	1	0	FDX1L	10282614	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	6.590000	0.74085	2.211000	0.71520	0.561000	0.74099	GCC		0.617	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			8	42	8	42
NES	10763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	156642351	156642351	+	Silent	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:156642351T>C	ENST00000368223.3	-	4	1761	c.1629A>G	c.(1627-1629)aaA>aaG	p.K543K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	543	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCAGGGTTTCTTTTTCCAAAG	0.468																																																0													65.0	69.0	68.0					1																	156642351		2203	4300	6503	SO:0001819	synonymous_variant	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1629A>G	1.37:g.156642351T>C			O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	CCDS1151.1																																																																																				0.468	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		6	45	6	45
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu	37	1	185964003	185964003	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:185964003G>T	ENST00000271588.4	+	24	3791	c.3562G>T	c.(3562-3564)Gtg>Ttg	p.V1188L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V1188L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1188	Ig-like C2-type 9.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGTCAAAGAGTGGATATTCC	0.413																																																0													135.0	128.0	131.0					1																	185964003		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3562G>T	1.37:g.185964003G>T	ENSP00000271588:p.Val1188Leu		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.847145	0.32606	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.33216	1.42;1.42	5.35	4.41	0.53225	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.472749	0.23720	N	0.045228	T	0.21674	0.0522	L	0.28504	0.86	0.35551	D	0.803899	B	0.24618	0.107	B	0.33454	0.164	T	0.17137	-1.0379	10	0.10636	T	0.68	.	8.5355	0.33360	0.08:0.0:0.7709:0.1491	.	1188	Q96RW7	HMCN1_HUMAN	L	1188	ENSP00000271588:V1188L;ENSP00000356462:V1188L	ENSP00000271588:V1188L	V	+	1	0	HMCN1	184230626	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	1.812000	0.38952	1.314000	0.45095	0.650000	0.86243	GTG		0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		5	88	5	88
OR2C3	81472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	247695072	247695072	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:247695072C>T	ENST00000366487.3	-	2	1103	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGAGACACCACAGCCACGTGG	0.542																																																0													130.0	118.0	122.0					1																	247695072		2203	4300	6503	SO:0001583	missense	81472			BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.742G>A	1.37:g.247695072C>T	ENSP00000355443:p.Val248Met		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621065	0.28889	.	.	ENSG00000196242	ENST00000366487	T	0.00277	8.34	3.75	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.280692	0.18424	U	0.141660	T	0.00998	0.0033	H	0.94964	3.605	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.16188	-1.0411	10	0.87932	D	0	.	13.4629	0.61237	0.0:1.0:0.0:0.0	.	248	Q8N628	OR2C3_HUMAN	M	248	ENSP00000355443:V248M	ENSP00000355443:V248M	V	-	1	0	OR2C3	245761695	0.170000	0.23016	0.034000	0.17996	0.103000	0.19146	1.594000	0.36697	2.074000	0.62210	0.650000	0.86243	GTG		0.542	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		46	94	46	94
SLC4A11	83959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	3209830	3209830	+	Silent	SNP	G	G	A	rs533752647		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:3209830G>A	ENST00000380056.3	-	15	2024	c.1977C>T	c.(1975-1977)agC>agT	p.S659S	SLC4A11_ENST00000539553.2_Silent_p.S643S|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000380059.3_Silent_p.S686S	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	659	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCATGGCACCGCTGACGGCCC	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		11412	0.0		0.0	False		,,,				2504	0.0				NSCLC(190;922 2139 10266 10292 38692)											0													60.0	60.0	60.0					20																	3209830		2203	4300	6503	SO:0001819	synonymous_variant	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1977C>T	20.37:g.3209830G>A			B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Silent	SNP	ENST00000380056.3	37	CCDS13052.1																																																																																				0.617	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			8	72	8	72
CSRP2BP	57325	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	18168088	18168088	+	Silent	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:18168088G>A	ENST00000435364.3	+	10	2675	c.2334G>A	c.(2332-2334)ctG>ctA	p.L778L	CSRP2BP_ENST00000377681.3_Silent_p.L777L|CSRP2BP_ENST00000489634.2_Silent_p.L650L	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	778	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CATTCTTTCTGAGGCTCCGGC	0.413																																																0													81.0	82.0	82.0					20																	18168088		2203	4300	6503	SO:0001819	synonymous_variant	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.2334G>A	20.37:g.18168088G>A			A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Silent	SNP	ENST00000435364.3	37	CCDS13133.1																																																																																				0.413	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078152.5	NM_020536		62	72	62	72
CNBD2	140894	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	34618499	34618499	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:34618499T>C	ENST00000373973.3	+	12	1833	c.1660T>C	c.(1660-1662)Tac>Cac	p.Y554H	CNBD2_ENST00000538900.1_3'UTR|CNBD2_ENST00000349339.1_Missense_Mutation_p.Y550H			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	554																	ACCCCAGAAATACCTCCCCCC	0.463																																																0													223.0	217.0	219.0					20																	34618499		2203	4300	6503	SO:0001583	missense	140894			AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1660T>C	20.37:g.34618499T>C	ENSP00000363084:p.Tyr554His		Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Missense_Mutation	SNP	ENST00000373973.3	37		.	.	.	.	.	.	.	.	.	.	T	10.70	1.424028	0.25639	.	.	ENSG00000149646	ENST00000373973;ENST00000349339	T;T	0.12039	2.72;2.72	5.43	-0.927	0.10451	.	1.939760	0.02168	N	0.059438	T	0.11495	0.0280	L	0.43923	1.385	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.25082	-1.0142	10	0.25106	T	0.35	-0.1038	2.7615	0.05307	0.3228:0.2731:0.0:0.4041	.	550	Q96M20-2	.	H	554;550	ENSP00000363084:Y554H;ENSP00000340954:Y550H	ENSP00000340954:Y550H	Y	+	1	0	C20orf152	34081913	0.002000	0.14202	0.375000	0.26029	0.437000	0.31866	-0.033000	0.12246	0.114000	0.18032	0.459000	0.35465	TAC		0.463	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		166	211	166	211
SLC5A3	6526	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	35468232	35468232	+	Silent	SNP	A	A	G			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr21:35468232A>G	ENST00000381151.3	+	2	1247	c.735A>G	c.(733-735)aaA>aaG	p.K245K	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000608209.1_Silent_p.K245K			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	245					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCCCTAAGAAAGAAGCCCTGA	0.453																																																0													119.0	118.0	118.0					21																	35468232		2203	4300	6503	SO:0001819	synonymous_variant	6526				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.735A>G	21.37:g.35468232A>G			O43489	Silent	SNP	ENST00000381151.3	37	CCDS33549.1																																																																																				0.453	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			57	100	57	100
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	69	19	69
PIK3CA	5290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	rs397517201		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	53	Substitution - Missense(53)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)											61.0	61.0	61.0					3																	178936095		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			13	41	13	41
BNIP1	662	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	172587005	172587005	+	Silent	SNP	G	G	A			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr5:172587005G>A	ENST00000351486.5	+	5	472	c.441G>A	c.(439-441)agG>agA	p.R147R	BNIP1_ENST00000352523.6_Silent_p.R156R|BNIP1_ENST00000393770.4_Silent_p.R113R|BNIP1_ENST00000231668.9_Silent_p.R190R	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	147					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATCAGCAGGATGATGGCCC	0.562																																																0													167.0	172.0	170.0					5																	172587005		2203	4300	6503	SO:0001819	synonymous_variant	662			AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.441G>A	5.37:g.172587005G>A			D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Silent	SNP	ENST00000351486.5	37	CCDS4384.1																																																																																				0.562	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		108	158	108	158
SPATA31E1	286234	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	90501843	90501843	+	Missense_Mutation	SNP	G	G	A	rs376492433		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr9:90501843G>A	ENST00000325643.5	+	4	2507	c.2441G>A	c.(2440-2442)gGg>gAg	p.G814E		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	814					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGAGGGGTGGGAAAGCCCAC	0.572																																																0													65.0	71.0	69.0					9																	90501843		2203	4300	6503	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2441G>A	9.37:g.90501843G>A	ENSP00000322640:p.Gly814Glu		B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	7.506	0.653698	0.14580	.	.	ENSG00000177992	ENST00000325643;ENST00000539327	T	0.03242	4.0	2.32	-4.64	0.03349	.	3.455730	0.00589	N	0.000345	T	0.02767	0.0083	N	0.16743	0.435	0.09310	N	1	P;P	0.51933	0.949;0.571	P;B	0.48952	0.596;0.118	T	0.46219	-0.9207	10	0.05525	T	0.97	.	1.9544	0.03373	0.1981:0.1701:0.4623:0.1694	.	814;466	Q6ZUB1;Q8NA33	CI079_HUMAN;.	E	814;466	ENSP00000322640:G814E	ENSP00000322640:G814E	G	+	2	0	C9orf79	89691663	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	0.007000	0.13174	-1.786000	0.01269	-0.484000	0.04775	GGG		0.572	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		22	21	22	21
PTX3	5806	broad.mit.edu;hgsc.bcm.edu	37	3	157154729	157154731	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr3:157154729_157154731delCTC	ENST00000295927.3	+	1	152_154	c.7_9delCTC	c.(7-9)ctcdel	p.L4del	VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392833.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	4					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of viral entry into host cell (GO:0046597)|opsonization (GO:0008228)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phagocytosis (GO:0050766)|response to yeast (GO:0001878)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	(1->3)-beta-D-glucan binding (GO:0001872)|complement component C1q binding (GO:0001849)|virion binding (GO:0046790)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGCAATGCATCTCCTTGCGATTC	0.493																																																0																																										SO:0001651	inframe_deletion	5806			X63613	CCDS3180.1	3q25	2010-03-11	2010-03-11		ENSG00000163661	ENSG00000163661			9692	protein-coding gene	gene with protein product		602492	"""pentaxin-related gene, rapidly induced by IL-1 beta"", ""tumor necrosis factor, alpha-induced protein 5"", ""pentraxin-related gene, rapidly induced by IL-1 beta"""	TNFAIP5		1429570	Standard	NM_002852		Approved	TSG-14	uc003fbl.4	P26022	OTTHUMG00000158750	ENST00000295927.3:c.7_9delCTC	3.37:g.157154729_157154731delCTC	ENSP00000295927:p.Leu4del		B2R6T6|Q38M82	In_Frame_Del	DEL	ENST00000295927.3	37	CCDS3180.1																																																																																				0.493	PTX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352028.1	NM_002852		64	96	64	96
