#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
KIAA1462	57608	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	30315252	30315252	+	Silent	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:30315252G>A	ENST00000375377.1	-	3	3926	c.3825C>T	c.(3823-3825)agC>agT	p.S1275S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	1275					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CATTCCTGAAGCTCAGGACTC	0.612																																																0													50.0	48.0	49.0					10																	30315252		1949	4143	6092	SO:0001819	synonymous_variant	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.3825C>T	10.37:g.30315252G>A			Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	ENST00000375377.1	37	CCDS41500.1																																																																																				0.612	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		16	31	16	31
PTEN	5728	hgsc.bcm.edu;ucsc.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292|rs121909224		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(1)|urinary_tract(1)	GRCh37	CM971273	PTEN	M	rs121909224						141.0	131.0	134.0					10																	89692904		2203	4300	6503	SO:0001587	stop_gained	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.388C>T	10.37:g.89692904C>T	ENSP00000361021:p.Arg130*		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.299622	0.99789	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		73	128	73	128
CYP2C19	1557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	96535209	96535209	+	Missense_Mutation	SNP	C	C	T	rs149590953	byFrequency	TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:96535209C>T	ENST00000371321.3	+	3	476	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	132			R -> Q (in allele CYP2C19*6; loss of activity). {ECO:0000269|PubMed:9732415}.		arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	CATGACGCTGCGGAATTTTGG	0.507													C|||	3	0.000599042	0.0	0.0029	5008	,	,		21466	0.0		0.001	False		,,,				2504	0.0															0								C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	142.0	135.0	137.0		394	-3.6	0.0	10	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP2C19	NM_000769.1	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	132/491	96535209	2,13004	2203	4300	6503	SO:0001583	missense	1557			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.394C>T	10.37:g.96535209C>T	ENSP00000360372:p.Arg132Trp		P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	CCDS7436.1	3	0.0013736263736263737	0	0.0	3	0.008287292817679558	0	0.0	0	0.0	C	14.15	2.450812	0.43531	2.27E-4	1.16E-4	ENSG00000165841	ENST00000371321	T	0.13420	2.59	3.9	-3.64	0.04515	.	0.072517	0.49305	U	0.000144	T	0.24122	0.0584	H	0.95645	3.7	0.22737	N	0.998793	D	0.64830	0.994	P	0.53809	0.735	T	0.14008	-1.0488	10	0.87932	D	0	.	7.5513	0.27798	0.6787:0.2223:0.0:0.099	.	132	P33261	CP2CJ_HUMAN	W	132	ENSP00000360372:R132W	ENSP00000360372:R132W	R	+	1	2	CYP2C19	96525199	0.973000	0.33851	0.020000	0.16555	0.246000	0.25737	0.221000	0.17680	-0.400000	0.07656	0.405000	0.27470	CGG		0.507	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		45	69	45	69
CYP2C8	1558	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	96818194	96818194	+	Silent	SNP	A	A	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:96818194A>G	ENST00000371270.3	-	5	811	c.717T>C	c.(715-717)ctT>ctC	p.L239L	CYP2C8_ENST00000539050.1_Silent_p.L153L|CYP2C8_ENST00000535898.1_Silent_p.L137L	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	239					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	AACTTCGTGTAAGAGCAACAT	0.363																																																0													168.0	146.0	153.0					10																	96818194		2203	4300	6503	SO:0001819	synonymous_variant	1558			M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.717T>C	10.37:g.96818194A>G			A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Silent	SNP	ENST00000371270.3	37	CCDS7438.1																																																																																				0.363	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		11	22	11	22
ANO9	338440	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	429619	429619	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:429619C>T	ENST00000332826.6	-	11	950	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	289					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CACGCGGGCGCGCTGCCGCTT	0.687																																																0													38.0	36.0	36.0					11																	429619		2196	4285	6481	SO:0001583	missense	338440			U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.866G>A	11.37:g.429619C>T	ENSP00000332788:p.Arg289His		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653598	0.67472	.	.	ENSG00000185101	ENST00000332826	T	0.63580	-0.05	4.29	2.37	0.29283	.	0.079666	0.48767	D	0.000164	T	0.70988	0.3287	M	0.62266	1.93	0.09310	N	1	D	0.76494	0.999	D	0.65140	0.932	T	0.60939	-0.7163	10	0.62326	D	0.03	.	9.6829	0.40080	0.0:0.828:0.0:0.172	.	289	A1A5B4	ANO9_HUMAN	H	289	ENSP00000332788:R289H	ENSP00000332788:R289H	R	-	2	0	ANO9	419619	0.974000	0.33945	0.634000	0.29324	0.448000	0.32197	2.962000	0.49176	0.935000	0.37341	0.550000	0.68814	CGC		0.687	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302		19	63	19	63
UBQLN3	50613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	5530632	5530632	+	Missense_Mutation	SNP	G	G	A	rs143866662	byFrequency	TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5530632G>A	ENST00000311659.4	-	2	304	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	53	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTAAAGCGCTGAGATATC	0.507													G|||	2	0.000399361	0.0008	0.0	5008	,	,		23723	0.0		0.0	False		,,,				2504	0.001				Ovarian(72;684 1260 12332 41642 52180)											0								G	CYS/ARG	0,4402		0,0,2201	184.0	175.0	178.0		157	5.5	1.0	11	dbSNP_134	178	1,8593	1.2+/-3.3	0,1,4296	yes	missense	UBQLN3	NM_017481.2	180	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	53/656	5530632	1,12995	2201	4297	6498	SO:0001583	missense	50613			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.157C>T	11.37:g.5530632G>A	ENSP00000347997:p.Arg53Cys		Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835008	0.71373	0.0	1.16E-4	ENSG00000175520	ENST00000311659;ENST00000445998	T;T	0.75050	-0.9;-0.9	5.49	5.49	0.81192	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.49305	D	0.000142	D	0.85927	0.5811	M	0.85197	2.74	0.80722	D	1	D	0.55385	0.971	P	0.58520	0.84	D	0.87896	0.2687	10	0.87932	D	0	-27.0407	17.2256	0.86969	0.0:0.0:1.0:0.0	.	53	Q9H347	UBQL3_HUMAN	C	53	ENSP00000347997:R53C;ENSP00000412561:R53C	ENSP00000347997:R53C	R	-	1	0	UBQLN3	5487208	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.488000	0.81441	2.749000	0.94314	0.491000	0.48974	CGC		0.507	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		62	167	62	167
OR52N2	390077	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	5841699	5841699	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5841699G>C	ENST00000317037.2	+	1	156	c.134G>C	c.(133-135)tGt>tCt	p.C45S	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGGAACTGTGGGCTCATC	0.547																																																0													134.0	115.0	122.0					11																	5841699		2201	4296	6497	SO:0001583	missense	390077			AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.134G>C	11.37:g.5841699G>C	ENSP00000322801:p.Cys45Ser		Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	37	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	G	4.359	0.066152	0.08388	.	.	ENSG00000180988	ENST00000317037	T	0.02737	4.18	5.91	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.307999	0.28908	N	0.013752	T	0.01661	0.0053	N	0.03224	-0.385	0.09310	N	1	B	0.12630	0.006	B	0.18871	0.023	T	0.48433	-0.9036	10	0.15066	T	0.55	.	12.9592	0.58447	0.0:0.0:0.5663:0.4336	.	45	Q8NGI0	O52N2_HUMAN	S	45	ENSP00000322801:C45S	ENSP00000322801:C45S	C	+	2	0	OR52N2	5798275	0.000000	0.05858	0.948000	0.38648	0.436000	0.31835	0.065000	0.14466	0.768000	0.33290	0.655000	0.94253	TGT		0.547	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		20	74	20	74
AVPR1A	552	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	63543919	63543919	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr12:63543919C>T	ENST00000299178.2	-	1	803	c.698G>A	c.(697-699)gGt>gAt	p.G233D		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	233					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GTAGCAGGTACCCAAGATGAC	0.642																																																0													73.0	75.0	74.0					12																	63543919		2203	4300	6503	SO:0001583	missense	552			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.698G>A	12.37:g.63543919C>T	ENSP00000299178:p.Gly233Asp			Missense_Mutation	SNP	ENST00000299178.2	37	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.012809	0.35511	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.72167	-0.63;-0.63	5.29	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.279904	0.39687	N	0.001298	T	0.63426	0.2510	L	0.52905	1.665	0.33712	D	0.615875	P	0.34562	0.457	B	0.37480	0.251	T	0.66822	-0.5826	9	.	.	.	-10.6177	9.2849	0.37751	0.244:0.3111:0.4449:0.0	.	233	P37288	V1AR_HUMAN	D	14;233	ENSP00000449822:G14D;ENSP00000299178:G233D	.	G	-	2	0	AVPR1A	61830186	0.000000	0.05858	0.964000	0.40570	0.551000	0.35334	1.118000	0.31246	0.591000	0.29711	0.455000	0.32223	GGT		0.642	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			42	99	42	99
FLVCR2	55640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	76101273	76101273	+	Silent	SNP	A	A	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr14:76101273A>G	ENST00000238667.4	+	5	1397	c.1041A>G	c.(1039-1041)ggA>ggG	p.G347G	FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000555027.1_Silent_p.G62G|FLVCR2_ENST00000553587.1_Silent_p.G95G|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000539311.1_Silent_p.G142G	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	347					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)	p.G347G(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGAATGCTGGAAGAATTGGCC	0.527																																																1	Substitution - coding silent(1)	lung(1)											128.0	106.0	113.0					14																	76101273		2203	4300	6503	SO:0001819	synonymous_variant	55640			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1041A>G	14.37:g.76101273A>G			B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	CCDS9844.1																																																																																				0.527	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		5	36	5	36
CHRNB4	1143	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	78921630	78921630	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr15:78921630G>T	ENST00000261751.3	-	5	1128	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank|CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	339					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	TAGGCAGCTTGTGCAGGAAGC	0.642																																																0													65.0	63.0	63.0					15																	78921630		2196	4293	6489	SO:0001583	missense	1143			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1017C>A	15.37:g.78921630G>T	ENSP00000261751:p.His339Gln		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	5.026	0.190517	0.09547	.	.	ENSG00000117971	ENST00000261751	D	0.84516	-1.86	5.3	3.36	0.38483	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.623927	0.16470	N	0.213011	T	0.68439	0.3001	N	0.21282	0.65	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.49031	-0.8981	10	0.12430	T	0.62	.	1.2041	0.01891	0.269:0.194:0.4009:0.1362	.	339	P30926	ACHB4_HUMAN	Q	339	ENSP00000261751:H339Q	ENSP00000261751:H339Q	H	-	3	2	CHRNB4	76708685	0.001000	0.12720	0.929000	0.37066	0.995000	0.86356	0.095000	0.15127	1.241000	0.43820	0.655000	0.94253	CAC		0.642	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1			13	40	13	40
RASGRF1	5923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	79277481	79277481	+	Silent	SNP	G	G	A	rs542075208		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr15:79277481G>A	ENST00000419573.3	-	24	3604	c.3330C>T	c.(3328-3330)atC>atT	p.I1110I	RASGRF1_ENST00000394745.3_Silent_p.I326I|RASGRF1_ENST00000560334.1_5'UTR|RP11-16K12.1_ENST00000316148.4_RNA|RASGRF1_ENST00000558480.2_Silent_p.I1094I	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1110	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCACTTCTCGATGGCGCTCA	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19806	0.0		0.0	False		,,,				2504	0.0															0													159.0	128.0	139.0					15																	79277481		2196	4293	6489	SO:0001819	synonymous_variant	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3330C>T	15.37:g.79277481G>A			F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	ENST00000419573.3	37	CCDS10309.1																																																																																				0.517	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		34	166	34	166
ANKFY1	51479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	4088255	4088255	+	Silent	SNP	C	C	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr17:4088255C>G	ENST00000341657.4	-	12	1592	c.1557G>C	c.(1555-1557)ctG>ctC	p.L519L	ANKFY1_ENST00000574367.1_Silent_p.L519L|ANKFY1_ENST00000573722.1_5'UTR|Y_RNA_ENST00000516003.1_RNA|ANKFY1_ENST00000570535.1_Silent_p.L561L|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	519					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCTCCGTCTGCAGGTTTGGGT	0.622																																																0													58.0	66.0	63.0					17																	4088255		2154	4267	6421	SO:0001819	synonymous_variant	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1557G>C	17.37:g.4088255C>G			A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	ENST00000341657.4	37																																																																																					0.622	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376		15	75	15	75
KCNJ2	3759	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	68171457	68171457	+	Missense_Mutation	SNP	G	G	A	rs147750704		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr17:68171457G>A	ENST00000243457.3	+	2	660	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	KCNJ2_ENST00000535240.1_Missense_Mutation_p.V93I	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	93			V -> I (in ATFB9; has a gain-of-function effect on the channels). {ECO:0000269|PubMed:15922306}.		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CCTGGCTTTCGTCCTGTCATG	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		20919	0.001		0.0	False		,,,				2504	0.0															0			GRCh37	CM051940	KCNJ2	M	rs147750704	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	200.0	163.0	176.0		277	3.5	0.0	17	dbSNP_134	176	2,8598	2.2+/-6.3	0,2,4298	yes	missense	KCNJ2	NM_000891.2	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	93/428	68171457	3,13003	2203	4300	6503	SO:0001583	missense	3759			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.277G>A	17.37:g.68171457G>A	ENSP00000243457:p.Val93Ile		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	2.501	-0.315254	0.05422	2.27E-4	2.33E-4	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.95853	-3.83;-3.83	5.66	3.48	0.39840	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.250737	0.41294	N	0.000920	D	0.90611	0.7056	L	0.41079	1.255	0.32735	N	0.508456	B	0.11235	0.004	B	0.16289	0.015	D	0.85446	0.1158	9	.	.	.	.	7.2716	0.26260	0.4014:0.0:0.5986:0.0	.	93	P63252	IRK2_HUMAN	I	93	ENSP00000441848:V93I;ENSP00000243457:V93I	.	V	+	1	0	KCNJ2	65683052	0.999000	0.42202	0.026000	0.17262	0.482000	0.33219	2.709000	0.47160	0.630000	0.30394	0.555000	0.69702	GTC		0.537	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1	NM_000891		46	160	46	160
ALPK2	115701	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	56246388	56246388	+	Silent	SNP	C	C	T	rs376599877		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr18:56246388C>T	ENST00000361673.3	-	4	1833	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	540						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTTCATTCCCGGCTGCCTCA	0.542											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		18739	0.001		0.0	False		,,,				2504	0.0															0													177.0	177.0	177.0					18																	56246388		2203	4300	6503	SO:0001819	synonymous_variant	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1620G>A	18.37:g.56246388C>T		1014	Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	CCDS11966.2																																																																																				0.542	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		59	226	59	226
FBN3	84467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	8136967	8136967	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:8136967C>A	ENST00000600128.1	-	63	8467	c.8053G>T	c.(8053-8055)Gac>Tac	p.D2685Y	FBN3_ENST00000601739.1_Missense_Mutation_p.D2685Y|FBN3_ENST00000270509.2_Missense_Mutation_p.D2685Y			Q75N90	FBN3_HUMAN	fibrillin 3	2685						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTGGCCGGTCCCGAGGGGAG	0.642																																																0													129.0	115.0	120.0					19																	8136967		2203	4300	6503	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8053G>T	19.37:g.8136967C>A	ENSP00000470498:p.Asp2685Tyr		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510310	0.44660	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.87412	-2.25	4.61	0.628	0.17681	.	0.712115	0.13663	U	0.371455	D	0.83631	0.5296	L	0.50333	1.59	0.09310	N	1	P;P	0.46277	0.875;0.875	P;B	0.44732	0.459;0.365	T	0.73341	-0.4013	10	0.42905	T	0.14	.	10.0101	0.41981	0.0:0.7087:0.0:0.2913	.	2685;748	Q75N90;Q6ZNB8	FBN3_HUMAN;.	Y	2685;748	ENSP00000270509:D2685Y	ENSP00000270509:D2685Y	D	-	1	0	FBN3	8042967	0.542000	0.26426	0.297000	0.24988	0.013000	0.08279	1.324000	0.33712	0.328000	0.23435	0.609000	0.83330	GAC		0.642	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		32	112	32	112
IGFL2	147920	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	46664038	46664038	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:46664038C>G	ENST00000377693.4	+	3	277	c.241C>G	c.(241-243)Ctt>Gtt	p.L81V	AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000434646.2_Missense_Mutation_p.L92V|IGFL2_ENST00000600243.1_3'UTR	NM_001135113.1	NP_001128585.1	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	81						extracellular region (GO:0005576)				cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCTCTGCTGTCTTGATTCCTT	0.527																																																0													187.0	195.0	192.0					19																	46664038		2200	4300	6500	SO:0001583	missense	147920			AY672112	CCDS46121.1, CCDS46122.1	19q13.32	2006-07-14							32929	protein-coding gene	gene with protein product		610545				14702039	Standard	NM_001002915		Approved	UNQ645	uc010xxv.2	Q6UWQ7		ENST00000377693.4:c.241C>G	19.37:g.46664038C>G	ENSP00000366922:p.Leu81Val		E9PAV1|Q6B9Z3	Missense_Mutation	SNP	ENST00000377693.4	37	CCDS46121.1	.	.	.	.	.	.	.	.	.	.	C	7.070	0.568114	0.13560	.	.	ENSG00000204866	ENST00000434646;ENST00000377693	T;T	0.23754	1.89;1.89	2.6	0.423	0.16463	.	.	.	.	.	T	0.12817	0.0311	N	0.14661	0.345	0.09310	N	1	B;B	0.26547	0.066;0.152	B;B	0.26310	0.061;0.068	T	0.28650	-1.0037	9	0.34782	T	0.22	-11.7925	4.8365	0.13468	0.0:0.6916:0.0:0.3084	.	81;92	Q6UWQ7;Q6UWQ7-2	IGFL2_HUMAN;.	V	92;81	ENSP00000395219:L92V;ENSP00000366922:L81V	ENSP00000366922:L81V	L	+	1	0	IGFL2	51355878	0.020000	0.18652	0.176000	0.23000	0.146000	0.21551	0.106000	0.15354	0.197000	0.20387	0.405000	0.27470	CTT		0.527	IGFL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000461705.1	NM_001002915		77	323	77	323
LILRA3	11026	hgsc.bcm.edu;broad.mit.edu	37	19	54802564	54802564	+	Missense_Mutation	SNP	C	C	T	rs199526424		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:54802564C>T	ENST00000251390.3	-	5	968	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	LILRA3_ENST00000391745.1_Missense_Mutation_p.G310S|LILRA3_ENST00000391744.3_Missense_Mutation_p.G229S	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	293	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGTACTGGCCCCCGTAGGAG	0.682																																																0													38.0	39.0	39.0					19																	54802564		2193	4161	6354	SO:0001583	missense	11026			U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.877G>A	19.37:g.54802564C>T	ENSP00000251390:p.Gly293Ser		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740124	0.49045	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.01548	4.78;4.78;4.78	2.03	2.03	0.26663	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.135528	0.33110	N	0.005280	T	0.16385	0.0394	H	0.98754	4.32	0.09310	N	1	D;D	0.89917	1.0;0.985	D;D	0.91635	0.999;0.977	T	0.11665	-1.0578	10	0.87932	D	0	.	7.6331	0.28251	0.0:1.0:0.0:0.0	.	293;293	E7EU74;Q8N6C8	.;LIRA3_HUMAN	S	293;229;310	ENSP00000251390:G293S;ENSP00000375624:G229S;ENSP00000375625:G310S	ENSP00000251390:G293S	G	-	1	0	LILRA3	59494376	0.004000	0.15560	0.004000	0.12327	0.032000	0.12392	1.325000	0.33724	1.479000	0.48272	0.586000	0.80456	GGC		0.682	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			31	83	31	83
PRAMEF12	390999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	12837725	12837725	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:12837725C>T	ENST00000357726.4	+	3	1462	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	479					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGCTGTCAGGGTGGATT	0.507																																																0													70.0	73.0	72.0					1																	12837725		2203	4300	6503	SO:0001587	stop_gained	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1435C>T	1.37:g.12837725C>T	ENSP00000350358:p.Gln479*			Nonsense_Mutation	SNP	ENST00000357726.4	37	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	13.12	2.142578	0.37825	.	.	ENSG00000116726	ENST00000357726	.	.	.	2.22	-2.84	0.05751	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.3203	0.26523	0.0:0.6396:0.0:0.3604	.	.	.	.	X	479	.	ENSP00000350358:Q479X	Q	+	1	0	PRAMEF12	12760312	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.806000	0.04525	-0.710000	0.05001	0.205000	0.17691	CAG		0.507	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		22	58	22	58
ITLN1	55600	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	160849160	160849160	+	Missense_Mutation	SNP	C	C	T	rs571105735		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:160849160C>T	ENST00000326245.3	-	7	845	c.730G>A	c.(730-732)Gag>Aag	p.E244K	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	244	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGCTCTCTCGTTATTAAAT	0.488													C|||	1	0.000199681	0.0	0.0014	5008	,	,		23282	0.0		0.0	False		,,,				2504	0.0															0													157.0	130.0	139.0					1																	160849160		2203	4300	6503	SO:0001583	missense	55600			AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.730G>A	1.37:g.160849160C>T	ENSP00000323587:p.Glu244Lys		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Missense_Mutation	SNP	ENST00000326245.3	37	CCDS1211.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888464	0.72524	.	.	ENSG00000179914	ENST00000326245	T	0.17054	2.3	3.96	0.687	0.18020	.	0.000000	0.64402	D	0.000009	T	0.09598	0.0236	M	0.82923	2.615	0.43073	D	0.99471	P	0.37122	0.583	B	0.38712	0.28	T	0.03086	-1.1074	10	0.40728	T	0.16	-12.12	3.7855	0.08698	0.1656:0.5749:0.1611:0.0984	.	244	Q8WWA0	ITLN1_HUMAN	K	244	ENSP00000323587:E244K	ENSP00000323587:E244K	E	-	1	0	ITLN1	159115784	0.731000	0.28111	0.630000	0.29268	0.973000	0.67179	1.119000	0.31258	0.310000	0.22990	0.655000	0.94253	GAG		0.488	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		32	100	32	100
ASTN1	460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	176838145	176838145	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:176838145T>C	ENST00000367654.3	-	22	3717	c.3506A>G	c.(3505-3507)tAc>tGc	p.Y1169C	ASTN1_ENST00000424564.2_Missense_Mutation_p.Y1161C|ASTN1_ENST00000367657.3_Missense_Mutation_p.Y1161C|ASTN1_ENST00000361833.2_Missense_Mutation_p.Y1161C	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1169					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAAGAGATTGTAGATCTTGTC	0.403																																																0													130.0	116.0	121.0					1																	176838145		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3506A>G	1.37:g.176838145T>C	ENSP00000356626:p.Tyr1169Cys		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	T	23.1	4.376319	0.82682	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.29142	1.58;1.99;1.98;1.59	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.983	T	0.54794	-0.8240	10	0.87932	D	0	-32.3511	15.6389	0.76981	0.0:0.0:0.0:1.0	.	1161;1161	O14525-2;B1AJS1	.;.	C	1161;1161;1169;1161;1161	ENSP00000356629:Y1161C;ENSP00000354536:Y1161C;ENSP00000356626:Y1169C;ENSP00000395041:Y1161C	ENSP00000354536:Y1161C	Y	-	2	0	ASTN1	175104768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.897000	0.87356	2.179000	0.69175	0.533000	0.62120	TAC		0.403	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		30	85	30	85
PTPRC	5788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	198703516	198703516	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:198703516G>C	ENST00000367376.2	+	22	2404	c.2233G>C	c.(2233-2235)Gtt>Ctt	p.V745L	PTPRC_ENST00000352140.3_Missense_Mutation_p.V697L|PTPRC_ENST00000594404.1_Missense_Mutation_p.V584L|PTPRC_ENST00000348564.6_Missense_Mutation_p.V586L|PTPRC_ENST00000442510.2_Missense_Mutation_p.V747L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	745	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAAGCCACAGTTATTGTCAT	0.408																																																0													284.0	293.0	290.0					1																	198703516		2203	4300	6503	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2233G>C	1.37:g.198703516G>C	ENSP00000356346:p.Val745Leu		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37		.	.	.	.	.	.	.	.	.	.	G	23.3	4.394741	0.83011	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000442510;ENST00000367367;ENST00000348564	T;D	0.84070	1.96;-1.8	5.73	3.84	0.44239	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.42172	D	0.000751	D	0.83857	0.5345	L	0.45352	1.415	0.44485	D	0.997427	P;D;D;D	0.56746	0.956;0.977;0.977;0.977	P;D;D;D	0.65323	0.532;0.934;0.934;0.934	T	0.82987	-0.0184	10	0.62326	D	0.03	.	5.9123	0.19035	0.3033:0.0:0.6967:0.0	.	681;586;697;745	F5GXZ3;B1ALS3;E9PC28;P08575	.;.;.;PTPRC_HUMAN	L	747;681;697;697;745;679;584	ENSP00000356346:V747L;ENSP00000193532:V697L	ENSP00000306782:V584L	V	+	1	0	PTPRC	196970139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.402000	0.59722	2.698000	0.92095	0.591000	0.81541	GTT		0.408	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				128	405	128	405
IL20	50604	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	207039239	207039239	+	Silent	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:207039239G>A	ENST00000367098.1	+	2	405	c.42G>A	c.(40-42)gcG>gcA	p.A14A	IL20_ENST00000367096.3_Silent_p.A14A|IL20_ENST00000391930.2_Silent_p.A14A			Q9UHF5	IL17B_HUMAN	interleukin 20	0					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TCTCTGCTGCGTTTTATCTCC	0.458																																																0													141.0	130.0	134.0					1																	207039239		2203	4300	6503	SO:0001819	synonymous_variant	50604			AF224266	CCDS1470.1	1q32	2008-02-05			ENSG00000162891	ENSG00000162891		"""Interleukins and interleukin receptors"""	6002	protein-coding gene	gene with protein product		605619				11163236	Standard	NM_018724		Approved	ZCYTO10, IL10D, IL-20	uc001her.3	Q9NYY1	OTTHUMG00000036456	ENST00000367098.1:c.42G>A	1.37:g.207039239G>A			Q14CE5	Silent	SNP	ENST00000367098.1	37	CCDS1470.1																																																																																				0.458	IL20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088676.1	NM_018724		19	74	19	74
ENAH	55740	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	225706962	225706962	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:225706962C>T	ENST00000366844.3	-	5	1191	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	ENAH_ENST00000366843.2_Missense_Mutation_p.R247Q|ENAH_ENST00000284563.6_Missense_Mutation_p.R266Q|ENAH_ENST00000391874.2_5'UTR	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	247					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CTGCTCTTGTCGCTCCCTTTC	0.517																																																0													263.0	255.0	258.0					1																	225706962		2203	4300	6503	SO:0001583	missense	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.740G>A	1.37:g.225706962C>T	ENSP00000355809:p.Arg247Gln		D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	ENST00000366844.3	37	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842703	0.51057	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.42131	0.98;0.98;0.98	5.03	4.12	0.48240	.	0.423798	0.21829	N	0.068519	T	0.24890	0.0604	N	0.19112	0.55	0.27250	N	0.958919	P;P	0.45672	0.864;0.645	B;B	0.36504	0.226;0.113	T	0.11060	-1.0603	10	0.66056	D	0.02	-4.1998	9.2011	0.37258	0.0:0.7766:0.1456:0.0778	.	247;247	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	Q	247;247;266;246	ENSP00000355809:R247Q;ENSP00000355808:R247Q;ENSP00000284563:R266Q	ENSP00000284563:R266Q	R	-	2	0	ENAH	223773585	0.329000	0.24696	0.019000	0.16419	0.739000	0.42172	0.729000	0.26028	1.111000	0.41721	0.650000	0.86243	CGA		0.517	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212		131	323	131	323
TM9SF4	9777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	30723918	30723918	+	Silent	SNP	A	A	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr20:30723918A>G	ENST00000398022.2	+	3	406	c.171A>G	c.(169-171)gaA>gaG	p.E57E	TM9SF4_ENST00000217315.5_Silent_p.E40E	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	57						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TACCTTATGAATACTATTCAC	0.512																																																0													117.0	97.0	104.0					20																	30723918		2203	4300	6503	SO:0001819	synonymous_variant	9777			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.171A>G	20.37:g.30723918A>G			B0QYT7|Q9NUA3	Silent	SNP	ENST00000398022.2	37	CCDS13196.2																																																																																				0.512	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		31	104	31	104
ADD2	119	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	70904917	70904917	+	Silent	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:70904917G>C	ENST00000264436.4	-	12	1920	c.1476C>G	c.(1474-1476)ccC>ccG	p.P492P	ADD2_ENST00000355733.3_Silent_p.P492P|ADD2_ENST00000413157.2_Silent_p.P492P|ADD2_ENST00000430656.1_Silent_p.P508P|ADD2_ENST00000407644.2_Silent_p.P492P	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	492					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GTACTTCCTGGGGGTCAGTAT	0.522																																																0													120.0	100.0	107.0					2																	70904917		2203	4300	6503	SO:0001819	synonymous_variant	119			X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.1476C>G	2.37:g.70904917G>C			A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Silent	SNP	ENST00000264436.4	37	CCDS1906.1																																																																																				0.522	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		16	67	16	67
HJURP	55355	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	234750028	234750028	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:234750028C>G	ENST00000411486.2	-	8	1463	c.1398G>C	c.(1396-1398)atG>atC	p.M466I	HJURP_ENST00000441687.1_Missense_Mutation_p.M381I|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Missense_Mutation_p.M412I	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	466					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CCCCTCTGTACATGTTCATGG	0.532																																																0													67.0	70.0	69.0					2																	234750028		2203	4300	6503	SO:0001583	missense	55355				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1398G>C	2.37:g.234750028C>G	ENSP00000414109:p.Met466Ile		A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241322	0.22711	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.12	0.148	0.14843	Holliday junction regulator protein family C-terminal repeat (1);	0.883650	0.09541	N	0.788214	T	0.42562	0.1208	N	0.24115	0.695	0.09310	N	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.09377	0.002;0.002;0.004	T	0.28396	-1.0045	10	0.46703	T	0.11	-3.6728	3.8177	0.08822	0.0:0.5036:0.183:0.3134	.	381;412;466	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	I	466;412;381;381	ENSP00000414109:M466I;ENSP00000407208:M412I;ENSP00000401944:M381I;ENSP00000393253:M381I	ENSP00000414109:M466I	M	-	3	0	HJURP	234414767	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.160000	0.16462	0.012000	0.14892	0.655000	0.94253	ATG		0.532	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		45	78	45	78
FGD5	152273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	14939167	14939167	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr3:14939167T>C	ENST00000285046.5	+	5	3010	c.2900T>C	c.(2899-2901)cTg>cCg	p.L967P	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.L726P	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	967	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GAGGAAAGGCTGTCAAATTGG	0.547																																																0													47.0	50.0	49.0					3																	14939167		1961	4144	6105	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2900T>C	3.37:g.14939167T>C	ENSP00000285046:p.Leu967Pro		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	T	17.66	3.443418	0.63067	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.34072	1.38;1.38	5.05	5.05	0.67936	Dbl homology (DH) domain (5);	0.348665	0.20436	N	0.092379	T	0.49304	0.1549	L	0.48642	1.525	0.58432	D	0.999991	D;D	0.71674	0.998;0.994	D;D	0.64042	0.921;0.921	T	0.50233	-0.8852	10	0.87932	D	0	-16.7275	11.2211	0.48855	0.0:0.0:0.0:1.0	.	726;967	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	P	967;726	ENSP00000285046:L967P;ENSP00000445949:L726P	ENSP00000285046:L967P	L	+	2	0	FGD5	14914171	0.995000	0.38212	0.943000	0.38184	0.897000	0.52465	3.798000	0.55522	1.901000	0.55032	0.482000	0.46254	CTG		0.547	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		5	20	5	20
POU1F1	5449	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	87322565	87322565	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr3:87322565G>T	ENST00000350375.2	-	2	270	c.146C>A	c.(145-147)aCa>aAa	p.T49K	POU1F1_ENST00000344265.3_Missense_Mutation_p.T75K|POU1F1_ENST00000560656.1_Missense_Mutation_p.T49K	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	49					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATGAAGTCCTGTTGCTGTGTT	0.383																																																0													112.0	98.0	103.0					3																	87322565		2203	4300	6503	SO:0001583	missense	5449			D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.146C>A	3.37:g.87322565G>T	ENSP00000263781:p.Thr49Lys		O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870943	0.72065	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	T;T	0.62941	-0.01;-0.01	5.78	5.78	0.91487	.	0.397031	0.26616	N	0.023393	T	0.56441	0.1985	L	0.40543	1.245	0.45439	D	0.998414	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.49194	-0.8965	10	0.21014	T	0.42	.	19.9997	0.97405	0.0:0.0:1.0:0.0	.	75;49	P28069-2;P28069	.;PIT1_HUMAN	K	49;75	ENSP00000263781:T49K;ENSP00000342931:T75K	ENSP00000342931:T75K	T	-	2	0	POU1F1	87405255	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	8.827000	0.92041	2.717000	0.92951	0.585000	0.79938	ACA		0.383	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		16	81	16	81
TLR1	7096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	38798156	38798156	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr4:38798156C>T	ENST00000502213.2	-	3	2526	c.2297G>A	c.(2296-2298)gGc>gAc	p.G766D	TLR1_ENST00000510552.1_5'Flank|TLR1_ENST00000308979.2_Missense_Mutation_p.G766D			Q15399	TLR1_HUMAN	toll-like receptor 1	766	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to triacyl bacterial lipopeptide (GO:0071727)|detection of triacyl bacterial lipopeptide (GO:0042495)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|toll-like receptor 1 signaling pathway (GO:0034130)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|Toll-like receptor 1-Toll-like receptor 2 protein complex (GO:0035354)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CCAAAAAAGGCCACGTTTGCT	0.423																																					GBM(5;216 373 40795 46382)											0													93.0	87.0	89.0					4																	38798156		2203	4300	6503	SO:0001583	missense	7096			U88540	CCDS33973.1	4p14	2008-02-05				ENSG00000174125		"""CD molecules"""	11847	protein-coding gene	gene with protein product		601194				9435236, 7584026	Standard	NM_003263		Approved	rsc786, KIAA0012, CD281	uc003gtl.3	Q15399		ENST00000502213.2:c.2297G>A	4.37:g.38798156C>T	ENSP00000421259:p.Gly766Asp		D1CS39|D1CS41|O15452|Q32MK3|Q32MK4|Q9UG90	Missense_Mutation	SNP	ENST00000502213.2	37	CCDS33973.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837773	0.32513	.	.	ENSG00000174125	ENST00000308979;ENST00000502213	D;D	0.88975	-2.45;-2.45	5.1	2.1	0.27182	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.308715	0.26026	N	0.026798	D	0.90013	0.6882	L	0.35288	1.05	0.31941	N	0.6109	D	0.54772	0.968	D	0.70227	0.968	D	0.90048	0.4147	10	0.87932	D	0	.	12.5061	0.55981	0.1074:0.5706:0.322:0.0	.	766	Q15399	TLR1_HUMAN	D	766	ENSP00000354932:G766D;ENSP00000421259:G766D	ENSP00000354932:G766D	G	-	2	0	TLR1	38474551	0.000000	0.05858	0.998000	0.56505	0.182000	0.23217	0.123000	0.15708	0.598000	0.29829	0.563000	0.77884	GGC		0.423	TLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360510.3			14	36	14	36
TEC	7006	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	48173432	48173432	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr4:48173432G>C	ENST00000381501.3	-	4	435	c.278C>G	c.(277-279)gCa>gGa	p.A93G		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	93	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGGACTAGGTGCAAAAATGTA	0.353																																																0													88.0	83.0	85.0					4																	48173432		2203	4300	6503	SO:0001583	missense	7006			D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.278C>G	4.37:g.48173432G>C	ENSP00000370912:p.Ala93Gly		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350305	0.82132	.	.	ENSG00000135605	ENST00000381501	D	0.97553	-4.43	5.9	5.9	0.94986	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.98588	0.9528	M	0.91354	3.2	0.54753	D	0.999987	D	0.56746	0.977	P	0.57283	0.817	D	0.99157	1.0860	10	0.87932	D	0	.	20.2789	0.98501	0.0:0.0:1.0:0.0	.	93	P42680	TEC_HUMAN	G	93	ENSP00000370912:A93G	ENSP00000370912:A93G	A	-	2	0	TEC	47868189	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	8.237000	0.89807	2.788000	0.95919	0.650000	0.86243	GCA		0.353	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			24	90	24	90
FLT4	2324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	180047927	180047927	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr5:180047927C>T	ENST00000261937.6	-	15	2326	c.2248G>A	c.(2248-2250)Gtg>Atg	p.V750M	FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000393347.3_Missense_Mutation_p.V750M|FLT4_ENST00000502649.1_Missense_Mutation_p.V750M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	750	Ig-like C2-type 7.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCGTTGCACACGCTGCACAGA	0.657																																					Colon(97;1075 1466 27033 27547 35871)											0													35.0	33.0	33.0					5																	180047927		2202	4299	6501	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2248G>A	5.37:g.180047927C>T	ENSP00000261937:p.Val750Met		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092003	0.94149	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.71934	-0.61;-0.61;-0.61	4.72	4.72	0.59763	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81259	0.4785	L	0.55017	1.72	0.54753	D	0.999988	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.70716	0.97;0.946;0.946	D	0.83622	0.0140	9	0.87932	D	0	.	18.0517	0.89351	0.0:1.0:0.0:0.0	.	560;750;750	E9PFB0;E9PD35;P35916	.;.;VGFR3_HUMAN	M	750;750;750;560	ENSP00000261937:V750M;ENSP00000377016:V750M;ENSP00000426057:V750M	ENSP00000261937:V750M	V	-	1	0	FLT4	179980533	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.783000	0.85696	2.350000	0.79820	0.455000	0.32223	GTG		0.657	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			4	22	4	22
MB21D1	115004	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	74135195	74135195	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr6:74135195A>C	ENST00000370315.3	-	5	1418	c.1324T>G	c.(1324-1326)Ttc>Gtc	p.F442V	MB21D1_ENST00000370318.1_Missense_Mutation_p.F442V	NM_138441.2	NP_612450.2	Q8N884	CGAS_HUMAN	Mab-21 domain containing 1	442					activation of innate immune response (GO:0002218)|cellular response to exogenous dsRNA (GO:0071360)|cyclic nucleotide biosynthetic process (GO:0009190)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of type I interferon production (GO:0032481)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cyclic-GMP-AMP synthase activity (GO:0061501)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|lung(1)	6						ACGTGAAAGAAGGCAGTTTTC	0.393																																																0													76.0	71.0	73.0					6																	74135195		2203	4300	6503	SO:0001583	missense	115004			BC012928	CCDS4978.1	6q13	2011-02-23	2011-02-23	2011-02-23	ENSG00000164430	ENSG00000164430			21367	protein-coding gene	gene with protein product		613973	"""chromosome 6 open reading frame 150"""	C6orf150			Standard	NM_138441		Approved		uc003pgx.1	Q8N884	OTTHUMG00000015034	ENST00000370315.3:c.1324T>G	6.37:g.74135195A>C	ENSP00000359339:p.Phe442Val		L0L2J9|Q14CV6|Q32NC9|Q5SWL0|Q5SWL1|Q96E45	Missense_Mutation	SNP	ENST00000370315.3	37	CCDS4978.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913438	0.52439	.	.	ENSG00000164430	ENST00000370318;ENST00000370315;ENST00000296913	T;T	0.08807	3.05;3.05	5.8	4.61	0.57282	.	0.146689	0.46442	D	0.000288	T	0.07863	0.0197	M	0.65320	2	0.34389	D	0.694008	D	0.56968	0.978	P	0.53760	0.734	T	0.25363	-1.0134	10	0.22706	T	0.39	-12.469	10.8176	0.46585	0.8589:0.0:0.0:0.141	.	442	Q8N884	M21D1_HUMAN	V	442;442;425	ENSP00000359342:F442V;ENSP00000359339:F442V	ENSP00000296913:F425V	F	-	1	0	MB21D1	74191916	1.000000	0.71417	0.988000	0.46212	0.313000	0.28021	2.822000	0.48073	0.975000	0.38392	0.528000	0.53228	TTC		0.393	MB21D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041221.5	NM_138441		13	34	13	34
IKZF1	10320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	50459521	50459521	+	Silent	SNP	C	C	T	rs370585837		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:50459521C>T	ENST00000331340.3	+	7	965	c.810C>T	c.(808-810)aaC>aaT	p.N270N	IKZF1_ENST00000343574.5_Silent_p.N183N|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000439701.1_Silent_p.N228N|IKZF1_ENST00000438033.1_Silent_p.N183N|IKZF1_ENST00000359197.5_Silent_p.N228N|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000357364.4_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	270					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TAGCAAGTAACGTCGCCAAAC	0.393			"""D,T"""	BCL6	"""ALL, DLBCL"""																																		"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	131	Unknown(131)	haematopoietic_and_lymphoid_tissue(131)						C	,,,,,,,,,,,	1,3765		0,1,1882	71.0	71.0	71.0		524,389,389,,263,263,,232,232,100,100,650	4.3	1.0	7		71	0,8244		0,0,4122	no	coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	IKZF1	NM_001220765.1,NM_001220766.1,NM_001220767.1,NM_001220768.1,NM_001220769.1,NM_001220770.1,NM_001220771.1,NM_001220773.1,NM_001220774.1,NM_001220775.1,NM_001220776.1,NM_006060.4	,,,,,,,,,,,	0,1,6004	TT,TC,CC		0.0,0.0266,0.0083	,,,,,,,,,,,	228/478,183/433,183/423,,141/391,141/381,,87/337,87/327,45/295,45/285,270/520	50459521	1,12009	1883	4122	6005	SO:0001819	synonymous_variant	10320			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.810C>T	7.37:g.50459521C>T			A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Silent	SNP	ENST00000331340.3	37																																																																																					0.393	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		8	37	8	37
PCLO	27445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	82583644	82583644	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:82583644C>A	ENST00000333891.9	-	5	6962	c.6625G>T	c.(6625-6627)Gtt>Ttt	p.V2209F	PCLO_ENST00000423517.2_Missense_Mutation_p.V2209F	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGTATAAACTGTGGTTATG	0.413																																																0													80.0	75.0	76.0					7																	82583644		1912	4137	6049	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6625G>T	7.37:g.82583644C>A	ENSP00000334319:p.Val2209Phe			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	7.675	0.687892	0.14973	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17528	2.27;2.28	5.77	2.98	0.34508	.	.	.	.	.	T	0.14184	0.0343	L	0.44542	1.39	0.80722	D	1	P;P	0.42203	0.773;0.773	B;B	0.37304	0.246;0.246	T	0.02411	-1.1163	9	0.87932	D	0	.	9.1051	0.36692	0.0:0.7448:0.1221:0.133	.	2209;2209	Q9Y6V0-5;Q9Y6V0-6	.;.	F	2140;2209;2209	ENSP00000334319:V2209F;ENSP00000388393:V2209F	ENSP00000334319:V2209F	V	-	1	0	PCLO	82421580	0.112000	0.22096	0.574000	0.28523	0.997000	0.91878	0.731000	0.26058	0.355000	0.24131	0.650000	0.86243	GTT		0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		13	58	13	58
GPR22	2845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	107114948	107114948	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:107114948C>A	ENST00000304402.4	+	3	1786	c.443C>A	c.(442-444)gCa>gAa	p.A148E	COG5_ENST00000475638.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	148					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GTAAAACCTGCAAACCGAATT	0.358																																																0													76.0	78.0	78.0					7																	107114948		2203	4299	6502	SO:0001583	missense	2845			U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.443C>A	7.37:g.107114948C>A	ENSP00000302676:p.Ala148Glu		O14554	Missense_Mutation	SNP	ENST00000304402.4	37	CCDS5744.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859838	0.71834	.	.	ENSG00000172209	ENST00000304402	T	0.37411	1.2	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.63120	-0.6708	10	0.72032	D	0.01	-12.7256	19.4492	0.94860	0.0:1.0:0.0:0.0	.	148	Q99680	GPR22_HUMAN	E	148	ENSP00000302676:A148E	ENSP00000302676:A148E	A	+	2	0	GPR22	106902184	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.654000	0.90174	0.650000	0.86243	GCA		0.358	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			39	128	39	128
HTR5A	3361	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	154863096	154863096	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:154863096G>C	ENST00000287907.2	+	1	1063	c.487G>C	c.(487-489)Gcg>Ccg	p.A163P	HTR5A-AS1_ENST00000543018.1_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	163					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CGTCATGATCGCGCTCACCTG	0.627																																																0													102.0	74.0	84.0					7																	154863096		2203	4300	6503	SO:0001583	missense	3361				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.487G>C	7.37:g.154863096G>C	ENSP00000287907:p.Ala163Pro		Q2M2D2	Missense_Mutation	SNP	ENST00000287907.2	37	CCDS5936.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190961	0.38707	.	.	ENSG00000157219	ENST00000287907	T	0.42131	0.98	4.75	-3.65	0.04502	GPCR, rhodopsin-like superfamily (1);	1.020240	0.07783	N	0.953679	T	0.61590	0.2359	M	0.91140	3.18	0.09310	N	0.999999	P	0.42757	0.789	P	0.55785	0.784	T	0.59172	-0.7504	10	0.39692	T	0.17	.	7.9454	0.29982	0.2722:0.3975:0.3303:0.0	.	163	P47898	5HT5A_HUMAN	P	163	ENSP00000287907:A163P	ENSP00000287907:A163P	A	+	1	0	HTR5A	154494029	0.004000	0.15560	0.002000	0.10522	0.334000	0.28698	1.467000	0.35321	-0.612000	0.05701	-0.176000	0.13171	GCG		0.627	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		22	106	22	106
NAT2	10	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	18257611	18257611	+	Missense_Mutation	SNP	G	G	A	rs138592670		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr8:18257611G>A	ENST00000286479.3	+	2	205	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	33					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	CACCAGATCCGGGCTGTTCCC	0.423									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																							0								G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	125.0	129.0	128.0		98	3.0	0.8	8	dbSNP_134	128	2,8598	2.2+/-6.3	0,2,4298	yes	missense	NAT2	NM_000015.2	43	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging	33/291	18257611	3,13003	2203	4300	6503	SO:0001583	missense	10	Familial Cancer Database	incl.: Familial Head and Neck Cancer	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.98G>A	8.37:g.18257611G>A	ENSP00000286479:p.Arg33Gln		O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Missense_Mutation	SNP	ENST00000286479.3	37	CCDS6008.1	.	.	.	.	.	.	.	.	.	.	G	9.198	1.027786	0.19512	2.27E-4	2.33E-4	ENSG00000156006	ENST00000286479	T	0.02067	4.47	3.02	3.02	0.34903	.	0.327366	0.27415	N	0.019472	T	0.02156	0.0067	L	0.52364	1.645	0.80722	D	1	B	0.33379	0.41	B	0.17979	0.02	T	0.57923	-0.7727	10	0.21540	T	0.41	.	9.7566	0.40506	0.0:0.0:1.0:0.0	.	33	A4Z6T7	.	Q	33	ENSP00000286479:R33Q	ENSP00000286479:R33Q	R	+	2	0	NAT2	18301891	0.000000	0.05858	0.790000	0.31976	0.645000	0.38454	-0.034000	0.12225	1.983000	0.57843	0.491000	0.48974	CGG		0.423	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		50	167	50	167
GLT6D1	360203	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	138530972	138530972	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr9:138530972C>T	ENST00000371763.1	-	2	315	c.62G>A	c.(61-63)cGt>cAt	p.R21H		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	21					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCTGAAATAACGCTCAACCAA	0.264																																																0													47.0	47.0	47.0					9																	138530972		1812	4071	5883	SO:0001583	missense	360203			AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.62G>A	9.37:g.138530972C>T	ENSP00000360829:p.Arg21His			Missense_Mutation	SNP	ENST00000371763.1	37	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	-	1.680	-0.506797	0.04231	.	.	ENSG00000204007	ENST00000371763	T	0.01947	4.54	3.36	-1.88	0.07713	.	7.969060	0.00166	N	0.000000	T	0.01558	0.0050	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45323	-0.9269	10	0.34782	T	0.22	0.1546	3.1142	0.06369	0.2037:0.3512:0.0:0.4451	.	21	Q7Z4J2	GL6D1_HUMAN	H	21	ENSP00000360829:R21H	ENSP00000360829:R21H	R	-	2	0	GLT6D1	137670793	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-2.930000	0.00689	-0.365000	0.08076	-0.366000	0.07423	CGT		0.264	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		8	66	8	66
FTSJ1	24140	broad.mit.edu;ucsc.edu	37	X	48337056	48337056	+	Silent	SNP	A	A	G			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chrX:48337056A>G	ENST00000348411.2	+	4	566	c.243A>G	c.(241-243)ccA>ccG	p.P81P	FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Silent_p.P81P|FTSJ1_ENST00000019019.2_Silent_p.P81P	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CTATGGCTCCACTACCAGGTG	0.617																																																0													41.0	33.0	36.0					X																	48337056		2203	4300	6503	SO:0001819	synonymous_variant	24140			AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"""tRNA methyltransferase 7 homolog (S. cerevisiae)"""	300499	"""mental retardation, X-linked 9"", ""mental retardation, X-linked 44"""	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.243A>G	X.37:g.48337056A>G				Silent	SNP	ENST00000348411.2	37	CCDS14294.1																																																																																				0.617	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060726.1			5	24	5	24
LAS1L	81887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	64752492	64752492	+	Silent	SNP	T	T	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chrX:64752492T>C	ENST00000374811.3	-	3	421	c.381A>G	c.(379-381)tcA>tcG	p.S127S	LAS1L_ENST00000312391.8_Silent_p.S127S|LAS1L_ENST00000374807.5_Silent_p.S127S|LAS1L_ENST00000374804.5_Silent_p.S85S	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	127					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TCTTCCTCTCTGAGATAAGAT	0.463																																																0													113.0	85.0	94.0					X																	64752492		2203	4300	6503	SO:0001819	synonymous_variant	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.381A>G	X.37:g.64752492T>C			A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Silent	SNP	ENST00000374811.3	37	CCDS14381.1																																																																																				0.463	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		23	71	23	71
ERG	2078	broad.mit.edu;ucsc.edu	37	21	39755664	39755664	+	Silent	SNP	G	G	A	rs143039786		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr21:39755664G>A	ENST00000417133.2	-	12	1307	c.1122C>T	c.(1120-1122)cgC>cgT	p.R374R	ERG_ENST00000398911.1_Silent_p.R350R|ERG_ENST00000453032.2_Silent_p.R275R|ERG_ENST00000398919.2_Silent_p.R374R|ERG_ENST00000398897.1_Silent_p.R251R|ERG_ENST00000398910.1_Silent_p.R351R|ERG_ENST00000398907.1_Silent_p.R344R|ERG_ENST00000288319.7_Silent_p.R367R|ERG_ENST00000398905.1_Silent_p.R343R|ERG_ENST00000442448.1_Silent_p.R350R	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AACGGAGGGCGCGGCTGAGCT	0.592			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)		Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"""M, E, L"""	0								G	,,,	0,4406		0,0,2203	126.0	104.0	111.0		1122,825,1050,1101	-10.4	0.2	21	dbSNP_134	111	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ERG	NM_001136154.1,NM_001136155.1,NM_004449.4,NM_182918.3	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	374/487,275/388,350/463,367/480	39755664	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2078				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1122C>T	21.37:g.39755664G>A			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	ENST00000417133.2	37	CCDS46648.1																																																																																				0.592	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		30	87	30	87
OR52E4	390081	broad.mit.edu;ucsc.edu	37	11	5906225	5906225	+	Nonsense_Mutation	SNP	C	C	T	rs375049618		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5906225C>T	ENST00000316987.2	+	1	725	c.703C>T	c.(703-705)Cga>Tga	p.R235*		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAAGATGTCCGACTAAAGGC	0.398																																																0								C	stop/ARG	0,4402		0,0,2201	277.0	242.0	254.0		703	0.9	0.0	11		254	1,8591	1.2+/-3.3	0,1,4295	no	stop-gained	OR52E4	NM_001005165.1		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		235/313	5906225	1,12993	2201	4296	6497	SO:0001587	stop_gained	390081			AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.703C>T	11.37:g.5906225C>T	ENSP00000321426:p.Arg235*		Q6IFG0	Nonsense_Mutation	SNP	ENST00000316987.2	37	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271421	0.59649	0.0	1.16E-4	ENSG00000180974	ENST00000316987	.	.	.	5.15	0.917	0.19380	.	0.000000	0.41500	D	0.000870	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4983	0.16815	0.5486:0.2948:0.0:0.1565	.	.	.	.	X	235	.	ENSP00000321426:R235X	R	+	1	2	OR52E4	5862801	0.000000	0.05858	0.039000	0.18376	0.774000	0.43823	-1.714000	0.01881	0.010000	0.14839	0.643000	0.83706	CGA		0.398	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		54	131	54	131
TANGO6	79613	broad.mit.edu;ucsc.edu	37	16	68894308	68894308	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr16:68894308G>T	ENST00000261778.1	+	2	628	c.616G>T	c.(616-618)Gct>Tct	p.A206S		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	206						integral component of membrane (GO:0016021)											TCTGAATGTTGCTCAGCACAC	0.517																																																0													171.0	167.0	168.0					16																	68894308		2030	4196	6226	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.616G>T	16.37:g.68894308G>T	ENSP00000261778:p.Ala206Ser		Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	8.589	0.884109	0.17467	.	.	ENSG00000103047	ENST00000261778	T	0.65732	-0.17	5.01	5.01	0.66863	.	.	.	.	.	T	0.45975	0.1369	L	0.34521	1.04	0.27814	N	0.942043	P;P	0.48503	0.911;0.911	B;B	0.36766	0.232;0.232	T	0.33752	-0.9856	9	0.16896	T	0.51	-6.0229	12.2434	0.54555	0.0:0.0:0.8297:0.1703	.	206;45	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	S	206	ENSP00000261778:A206S	ENSP00000261778:A206S	A	+	1	0	TMCO7	67451809	1.000000	0.71417	0.026000	0.17262	0.387000	0.30353	4.819000	0.62664	2.327000	0.79052	0.561000	0.74099	GCT		0.517	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		59	229	59	229
SCN1A	6323	broad.mit.edu;ucsc.edu	37	2	166892601	166892601	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:166892601G>A	ENST00000303395.4	-	16	3385	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	SCN1A_ENST00000409050.1_Missense_Mutation_p.T1101M|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.T1129M|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T1118M|AC010127.3_ENST00000595647.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1129					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAGTCTTCCGTGTTTAAATT	0.343																																																0													155.0	159.0	158.0					2																	166892601		2203	4300	6503	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3386C>T	2.37:g.166892601G>A	ENSP00000303540:p.Thr1129Met		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086416	0.76642	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.44	5.44	0.79542	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000001	D	0.92586	0.7645	M	0.79475	2.455	0.53688	D	0.99997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.978;0.971;0.985	D	0.92889	0.6329	10	0.72032	D	0.01	.	19.6178	0.95640	0.0:0.0:1.0:0.0	.	1118;1101;1129	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	M	1129;1129;1118;1101	ENSP00000407030:T1129M;ENSP00000303540:T1129M;ENSP00000364554:T1118M;ENSP00000386312:T1101M	ENSP00000303540:T1129M	T	-	2	0	SCN1A	166600847	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.467000	0.73547	2.709000	0.92574	0.655000	0.94253	ACG		0.343	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		42	158	42	158
CLCNKB	1188	broad.mit.edu;ucsc.edu	37	1	16372121	16372121	+	Missense_Mutation	SNP	G	G	A	rs528798067		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:16372121G>A	ENST00000375679.4	+	3	280	c.169G>A	c.(169-171)Ggg>Agg	p.G57R		NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	57					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GATGACCCTCGGGGTGCTCAT	0.637																																																0													194.0	145.0	161.0					1																	16372121		2203	4300	6503	SO:0001583	missense	1188			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.169G>A	1.37:g.16372121G>A	ENSP00000364831:p.Gly57Arg		B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	CCDS168.1	.	.	.	.	.	.	.	.	.	.	g	16.98	3.270116	0.59540	.	.	ENSG00000184908	ENST00000375679;ENST00000331579	D	0.99150	-5.49	4.66	3.73	0.42828	Chloride channel, core (2);	0.115049	0.64402	D	0.000014	D	0.98814	0.9600	M	0.91510	3.215	0.80722	D	1	P	0.39847	0.691	B	0.43783	0.431	D	0.98816	1.0745	10	0.87932	D	0	.	13.4301	0.61051	0.0:0.0:0.8417:0.1583	.	57	P51801	CLCKB_HUMAN	R	57	ENSP00000364831:G57R	ENSP00000332055:G57R	G	+	1	0	CLCNKB	16244708	1.000000	0.71417	0.831000	0.32960	0.791000	0.44710	9.176000	0.94839	1.051000	0.40369	0.591000	0.81541	GGG		0.637	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		21	86	21	86
ATP1A2	477	broad.mit.edu;hgsc.bcm.edu	37	1	160093068	160093069	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:160093068_160093069insC	ENST00000361216.3	+	4	332_333	c.243_244insC	c.(244-246)cccfs	p.P82fs	ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.P82fs	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	82	Interaction with phosphoinositide-3 kinase. {ECO:0000250}.				adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCACACCACCTCCCACAACCCC	0.629																																																0																																										SO:0001589	frameshift_variant	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.246dupC	1.37:g.160093071_160093071dupC	ENSP00000354490:p.Pro82fs		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Frame_Shift_Ins	INS	ENST00000361216.3	37	CCDS1196.1																																																																																				0.629	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		60	237	60	237
