#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CROCCP2	84809	broad.mit.edu	37	1	16946368	16946368	+	lincRNA	SNP	A	A	G			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:16946368A>G	ENST00000412962.1	-	0	1151				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GGCCAGGAGGAGGCCCTCGTC	0.667																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946368A>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946368A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	1151	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.667	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		2	16	2	16	---	---	---	---
ZNF683	257101	broad.mit.edu	37	1	26691329	26691329	+	Silent	SNP	C	C	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:26691329C>A	ENST00000436292.1	-	4	828	c.708G>T	c.(706-708)ctG>ctT	p.L236L	ZNF683_ENST00000403843.1_Silent_p.L236L|ZNF683_ENST00000374204.1_Silent_p.L236L|ZNF683_ENST00000349618.3_Silent_p.L236L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	236					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L236L(1)|p.L221L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CCATCATCAGCAGGCTAGGCA	0.632																																						ENST00000436292.1																			2	Substitution - coding silent(2)	p.L236L(1)|p.L221L(1)	prostate(2)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15						c.(706-708)ctG>ctT		zinc finger protein 683							53.0	58.0	57.0					1																	26691329		2203	4300	6503	SO:0001819	synonymous_variant	257101				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:26691329C>A	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.708G>T	1.37:g.26691329C>A			Somatic				ZNF683_ENST00000374204.1_Silent_p.L236L|ZNF683_ENST00000349618.3_Silent_p.L236L|ZNF683_ENST00000403843.1_Silent_p.L236L	p.L236L			WXS	Illumina GAIIx	Phase_I	Q8IZ20	ZN683_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)	4	828	-		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	236					Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Silent	SNP	ENST00000436292.1	37	c.708G>T		.	.	.	.	.	.	.	.	.	.	C	2.518	-0.311364	0.05422	.	.	ENSG00000176083	ENST00000374203	.	.	.	4.74	1.79	0.24919	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35500	-0.9786	5	0.87932	D	0	-0.1957	6.9614	0.24599	0.0:0.7038:0.0:0.2962	.	.	.	.	F	168	.	ENSP00000363319:C168F	C	-	2	0	ZNF683	26563916	0.382000	0.25148	0.009000	0.14445	0.016000	0.09150	0.091000	0.15046	0.619000	0.30197	-0.258000	0.10820	TGC		0.632	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		13	119	13	119	---	---	---	---
CYR61	3491	broad.mit.edu	37	1	86048170	86048170	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:86048170T>C	ENST00000451137.2	+	4	930	c.706T>C	c.(706-708)Tgg>Cgg	p.W236R		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	236	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anatomical structure morphogenesis (GO:0009653)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|chondroblast differentiation (GO:0060591)|chorio-allantoic fusion (GO:0060710)|extracellular matrix organization (GO:0030198)|intussusceptive angiogenesis (GO:0002041)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of apoptotic process (GO:0043066)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reactive oxygen species metabolic process (GO:0072593)|regulation of cell growth (GO:0001558)|regulation of ERK1 and ERK2 cascade (GO:0070372)|ventricular septum development (GO:0003281)|wound healing, spreading of cells (GO:0044319)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)	p.W236R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AACAACTTCATGGTCCCAGTG	0.458											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000451137.2																			1	Substitution - Missense(1)	p.W236R(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5						c.(706-708)Tgg>Cgg		cysteine-rich, angiogenic inducer, 61							88.0	82.0	84.0					1																	86048170		2203	4300	6503	SO:0001583	missense	3491				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	g.chr1:86048170T>C	AF031385	CCDS706.1	1p22.3	2008-02-05			ENSG00000142871	ENSG00000142871			2654	protein-coding gene	gene with protein product		602369		IGFBP10		9135077	Standard	NM_001554		Approved	GIG1, CCN1	uc001dle.3	O00622	OTTHUMG00000010577	ENST00000451137.2:c.706T>C	1.37:g.86048170T>C	ENSP00000398736:p.Trp236Arg		Somatic	OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1241		p.W236R	NM_001554.4	NP_001545.2	WXS	Illumina GAIIx	Phase_I	O00622	CYR61_HUMAN		all cancers(265;0.0216)|Epithelial(280;0.0441)	4	930	+			236			TSP type-1.		O14934|O43775|Q9BZL7	Missense_Mutation	SNP	ENST00000451137.2	37	c.706T>C	CCDS706.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820020	0.71028	.	.	ENSG00000142871	ENST00000451137;ENST00000536321;ENST00000360431	T	0.77489	-1.1	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.93187	0.7830	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96083	0.9055	10	0.87932	D	0	-23.7684	16.6438	0.85155	0.0:0.0:0.0:1.0	.	236	O00622	CYR61_HUMAN	R	236;212;236	ENSP00000398736:W236R	ENSP00000353612:W236R	W	+	1	0	CYR61	85820758	1.000000	0.71417	0.969000	0.41365	0.957000	0.61999	8.026000	0.88783	2.333000	0.79357	0.533000	0.62120	TGG		0.458	CYR61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029187.1	NM_001554		13	110	13	110	---	---	---	---
PDK1	5163	broad.mit.edu	37	2	173457705	173457705	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr2:173457705C>A	ENST00000282077.3	+	10	1281	c.1099C>A	c.(1099-1101)Caa>Aaa	p.Q367K	PDK1_ENST00000410055.1_Missense_Mutation_p.Q367K|PDK1_ENST00000543905.1_Missense_Mutation_p.Q291K|PDK1_ENST00000392571.2_Missense_Mutation_p.Q387K|PDK1_ENST00000544863.1_Missense_Mutation_p.Q212K			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	367	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.Q367K(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TCTTTACGCACAATACTTCCA	0.378									Autosomal Dominant Polycystic Kidney Disease																													ENST00000282077.3																			1	Substitution - Missense(1)	p.Q367K(1)	prostate(1)	central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16						c.(1099-1101)Caa>Aaa		pyruvate dehydrogenase kinase, isozyme 1							141.0	138.0	139.0					2																	173457705		2203	4300	6503	SO:0001583	missense	5163	Autosomal Dominant Polycystic Kidney Disease	Familial Cancer Database	ADPKD	glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chr2:173457705C>A	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.1099C>A	2.37:g.173457705C>A	ENSP00000282077:p.Gln367Lys		Somatic				PDK1_ENST00000543905.1_Missense_Mutation_p.Q291K|PDK1_ENST00000392571.2_Missense_Mutation_p.Q387K|PDK1_ENST00000544863.1_Missense_Mutation_p.Q212K|PDK1_ENST00000410055.1_Missense_Mutation_p.Q367K	p.Q367K			WXS	Illumina GAIIx	Phase_I	Q15118	PDK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.12)		10	1281	+						Histidine kinase.		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	c.1099C>A	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.614680	0.28712	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.8	5.8	0.92144	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.099026	0.64402	D	0.000002	T	0.26593	0.0650	N	0.01679	-0.765	0.44711	D	0.997707	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.17048	-1.0382	10	0.24483	T	0.36	-6.6937	14.9017	0.70684	0.1432:0.8568:0.0:0.0	.	367;387	Q15118;E9PD65	PDK1_HUMAN;.	K	291;212;367;387;367	ENSP00000438567:Q291K;ENSP00000437502:Q212K;ENSP00000282077:Q367K;ENSP00000376352:Q387K;ENSP00000386985:Q367K	ENSP00000282077:Q367K	Q	+	1	0	PDK1	173165951	0.996000	0.38824	0.957000	0.39632	0.939000	0.58152	3.338000	0.52128	2.775000	0.95449	0.650000	0.86243	CAA		0.378	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3	NM_002610		4	160	4	160	---	---	---	---
CHPF	79586	broad.mit.edu	37	2	220406592	220406592	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr2:220406592G>T	ENST00000243776.6	-	2	882	c.634C>A	c.(634-636)Cta>Ata	p.L212I	CHPF_ENST00000373891.2_Missense_Mutation_p.L212I|CHPF_ENST00000535926.1_Missense_Mutation_p.L50I|TMEM198_ENST00000344458.2_5'Flank|TMEM198_ENST00000373883.3_5'Flank	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	212					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.L212I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGCCAGTTAGGCGTGCCAGG	0.706											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000243776.6																			1	Substitution - Missense(1)	p.L212I(1)	prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21						c.(634-636)Cta>Ata		chondroitin polymerizing factor							31.0	26.0	28.0					2																	220406592		2200	4299	6499	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220406592G>T	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.634C>A	2.37:g.220406592G>T	ENSP00000243776:p.Leu212Ile		Somatic	OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2266	CHPF_ENST00000373891.2_Missense_Mutation_p.L212I|CHPF_ENST00000535926.1_Missense_Mutation_p.L50I	p.L212I	NM_024536.5	NP_078812	WXS	Illumina GAIIx	Phase_I	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	882	-		Renal(207;0.0183)	212					B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.634C>A	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706923	0.48412	.	.	ENSG00000123989	ENST00000243776;ENST00000535926;ENST00000373891	T;T	0.15256	2.44;2.51	4.29	2.49	0.30216	.	0.000000	0.64402	D	0.000013	T	0.35799	0.0944	M	0.74647	2.275	0.51012	D	0.999905	D;P	0.67145	0.996;0.791	D;B	0.80764	0.994;0.279	T	0.04203	-1.0969	10	0.33141	T	0.24	-9.9151	9.0295	0.36249	0.2435:0.0:0.7565:0.0	.	212;212	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	I	212;50;212	ENSP00000243776:L212I;ENSP00000445571:L50I	ENSP00000243776:L212I	L	-	1	2	CHPF	220114836	1.000000	0.71417	0.161000	0.22692	0.977000	0.68977	2.832000	0.48152	0.577000	0.29470	0.549000	0.68633	CTA		0.706	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		3	30	3	30	---	---	---	---
JADE2	23338	broad.mit.edu	37	5	133914476	133914476	+	Silent	SNP	G	G	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr5:133914476G>A	ENST00000282605.4	+	12	2060	c.1974G>A	c.(1972-1974)ggG>ggA	p.G658G	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Silent_p.G615G|PHF15_ENST00000395003.1_Silent_p.G614G														p.G614G(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGCAGGACGGGCCTGGTTCAC	0.672																																						ENST00000395003.1																			1	Substitution - coding silent(1)	p.G614G(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(1840-1842)ggG>ggA									43.0	47.0	45.0					5																	133914476		2203	4300	6503	SO:0001819	synonymous_variant	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914476G>A																												ENST00000282605.4:c.1974G>A	5.37:g.133914476G>A			Somatic				PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Silent_p.G615G|PHF15_ENST00000282605.4_Silent_p.G658G	p.G614G	NM_015288.4	NP_056103.4	WXS	Illumina GAIIx	Phase_I	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2021	+			614			Pro-rich.			Silent	SNP	ENST00000282605.4	37	c.1842G>A																																																																																					0.672	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			5	48	5	48	---	---	---	---
DPYSL2	1808	broad.mit.edu	37	8	26484737	26484737	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr8:26484737G>A	ENST00000311151.5	+	6	959	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	DPYSL2_ENST00000523027.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000521913.1_Missense_Mutation_p.E147K	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	183					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)	p.E183K(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TCAGATTTATGAAGTACTGAG	0.483																																						ENST00000311151.5																			1	Substitution - Missense(1)	p.E183K(1)	prostate(1)	breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(547-549)Gaa>Aaa		dihydropyrimidinase-like 2							115.0	107.0	110.0					8																	26484737		2203	4300	6503	SO:0001583	missense	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26484737G>A	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.547G>A	8.37:g.26484737G>A	ENSP00000309539:p.Glu183Lys		Somatic				DPYSL2_ENST00000521913.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000523027.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000521983.1_3'UTR	p.E183K	NM_001386.5	NP_001377.1	WXS	Illumina GAIIx	Phase_I	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	6	959	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	183					A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	c.547G>A	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198118	0.79015	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	5.58	5.58	0.84498	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.94042	0.8091	L	0.52011	1.625	0.80722	D	1	B;D;D	0.76494	0.17;0.991;0.999	B;D;D	0.78314	0.099;0.977;0.991	D	0.93595	0.6925	10	0.49607	T	0.09	-22.2419	19.5653	0.95390	0.0:0.0:1.0:0.0	.	183;183;239	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	K	147;183;183;147	ENSP00000427985:E147K;ENSP00000309539:E183K;ENSP00000428909:E183K;ENSP00000431117:E147K	ENSP00000309539:E183K	E	+	1	0	DPYSL2	26540654	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	9.864000	0.99589	2.612000	0.88384	0.655000	0.94253	GAA		0.483	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		14	55	14	55	---	---	---	---
YME1L1	10730	broad.mit.edu	37	10	27436415	27436415	+	Intron	SNP	C	C	T			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr10:27436415C>T	ENST00000326799.3	-	3	488				YME1L1_ENST00000477432.1_Silent_p.G117G|YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase						cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTTGGAGAAACCCGCAGTGTA	0.468																																						ENST00000477432.1																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(349-351)ggG>ggA		YME1-like 1 ATPase							153.0	131.0	139.0					10																	27436415		2203	4300	6503	SO:0001627	intron_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27436415C>T	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.339+11G>A	10.37:g.27436415C>T			Somatic				YME1L1_ENST00000326799.3_Intron|YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron	p.G117G			WXS	Illumina GAIIx	Phase_I	Q96TA2	YMEL1_HUMAN			3	1406	-			0					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.351G>A	CCDS7152.1																																																																																				0.468	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		3	69	3	69	---	---	---	---
CNGA4	1262	broad.mit.edu	37	11	6261464	6261464	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr11:6261464C>T	ENST00000379936.2	+	4	555	c.440C>T	c.(439-441)gCg>gTg	p.A147V	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	147					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.A147V(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTCCGCGCGCCCCGCCTC	0.587																																						ENST00000379936.2																			1	Substitution - Missense(1)	p.A147V(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(439-441)gCg>gTg		cyclic nucleotide gated channel alpha 4							79.0	86.0	84.0					11																	6261464		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261464C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.440C>T	11.37:g.6261464C>T	ENSP00000369268:p.Ala147Val		Somatic				CNGA4_ENST00000533426.1_Intron	p.A147V	NM_001037329.3	NP_001032406.1	WXS	Illumina GAIIx	Phase_I	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	555	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	147						Missense_Mutation	SNP	ENST00000379936.2	37	c.440C>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	1.015	-0.686802	0.03328	.	.	ENSG00000132259	ENST00000379936	D	0.97404	-4.37	5.26	-5.43	0.02632	Ion transport (1);	0.589948	0.18900	N	0.128064	D	0.86760	0.6010	N	0.01668	-0.77	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.74450	-0.3661	10	0.22109	T	0.4	.	14.3643	0.66795	0.0:0.5734:0.0:0.4266	.	147;107	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	V	147	ENSP00000369268:A147V	ENSP00000369268:A147V	A	+	2	0	CNGA4	6218040	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-0.473000	0.06615	-1.108000	0.03000	-0.794000	0.03295	GCG		0.587	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		5	205	5	205	---	---	---	---
SLC2A14	144195	broad.mit.edu	37	12	7982567	7982567	+	Missense_Mutation	SNP	G	G	A	rs145793375	byFrequency	TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr12:7982567G>A	ENST00000543909.1	-	10	1136	c.377C>T	c.(376-378)gCc>gTc	p.A126V	SLC2A14_ENST00000535295.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A141V|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A103V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A103V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A126V|SLC2A14_ENST00000542505.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	126					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.A126V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCCACCAGTGGCAGCCAACAG	0.478													g|||	5	0.000998403	0.0038	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000543909.1																			1	Substitution - Missense(1)	p.A126V(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(376-378)gCc>gTc		solute carrier family 2 (facilitated glucose transporter), member 14		G	VAL/ALA	8,4398	14.3+/-33.2	0,8,2195	65.0	63.0	64.0		377	1.9	0.0	12	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	no	missense	SLC2A14	NM_153449.2	64	0,10,6493	AA,AG,GG		0.0233,0.1816,0.0769	benign	126/521	7982567	10,12996	2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7982567G>A	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.377C>T	12.37:g.7982567G>A	ENSP00000440480:p.Ala126Val		Somatic				SLC2A14_ENST00000539924.1_Missense_Mutation_p.A141V|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A103V|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A103V|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A126V	p.A126V			WXS	Illumina GAIIx	Phase_I	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	10	1136	-			126					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.377C>T	CCDS8585.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	g	0.809	-0.752646	0.03041	0.001816	2.33E-4	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557	T;T;T;T;T;T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	3.11	1.93	0.25924	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.845509	0.10675	N	0.647105	T	0.23171	0.0560	N	0.00754	-1.215	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.20605	-1.0270	10	0.13853	T	0.58	.	6.7344	0.23401	0.8739:0.0:0.1261:0.0	.	141;17;103;126	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	V	103;126;103;126;17;17;141;103;103;103;126	ENSP00000340450:A103V;ENSP00000440480:A126V;ENSP00000407287:A103V;ENSP00000379834:A126V;ENSP00000440492:A17V;ENSP00000443903:A17V;ENSP00000445929:A141V;ENSP00000440043:A103V;ENSP00000438312:A103V;ENSP00000443217:A103V;ENSP00000440044:A126V	ENSP00000340450:A103V	A	-	2	0	SLC2A14	7873834	0.741000	0.28217	0.000000	0.03702	0.018000	0.09664	6.492000	0.73654	0.214000	0.20742	-0.606000	0.04082	GCC		0.478	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		3	69	3	69	---	---	---	---
GALNT4	8693	broad.mit.edu	37	12	89917323	89917323	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr12:89917323C>G	ENST00000529983.2	-	1	1260	c.1004G>C	c.(1003-1005)gGa>gCa	p.G335A	POC1B-GALNT4_ENST00000547474.1_3'UTR|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000549035.1_Intron|POC1B_ENST00000541909.1_Intron|POC1B-GALNT4_ENST00000548729.1_Missense_Mutation_p.G332A|GALNT4_ENST00000413530.1_Missense_Mutation_p.G163A|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549504.1_Intron	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	335	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G335A(1)		endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						GTTTTCACCTCCCCACACTTC	0.522																																						ENST00000548729.1																			1	Substitution - Missense(1)	p.G335A(1)	prostate(1)								c.(994-996)gGa>gCa									180.0	183.0	182.0					12																	89917323		2037	4204	6241	SO:0001583	missense	100528030							g.chr12:89917323C>G	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1004G>C	12.37:g.89917323C>G	ENSP00000436604:p.Gly335Ala		Somatic				POC1B_ENST00000313546.3_Intron|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.G335A|GALNT4_ENST00000413530.1_Missense_Mutation_p.G163A|POC1B_ENST00000549035.1_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR	p.G332A	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1	WXS	Illumina GAIIx	Phase_I					3	1297	-								B2R775|B4DMX6|O00208	Missense_Mutation	SNP	ENST00000529983.2	37	c.995G>C	CCDS53817.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491033	0.84962	.	.	ENSG00000259075;ENSG00000259075;ENSG00000257594	ENST00000548729;ENST00000413530;ENST00000529983	T;D;T	0.96136	-0.26;-3.92;-0.26	5.84	5.84	0.93424	.	.	.	.	.	D	0.98679	0.9557	H	0.96691	3.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99383	1.0923	9	0.87932	D	0	.	19.1417	0.93448	0.0:1.0:0.0:0.0	.	332;335	F8VUJ3;Q8N4A0	.;GALT4_HUMAN	A	332;163;335	ENSP00000447852:G332A;ENSP00000389686:G163A;ENSP00000436604:G335A	ENSP00000436604:G335A	G	-	2	0	GALNT4;RP11-1109F11.4	88441454	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.760000	0.85248	2.764000	0.94973	0.650000	0.86243	GGA		0.522	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774		42	257	42	257	---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69348910	69348910	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr15:69348910C>A	ENST00000388866.3	+	16	2213	c.2172C>A	c.(2170-2172)ttC>ttA	p.F724L	NOX5_ENST00000448182.3_Missense_Mutation_p.F678L|NOX5_ENST00000260364.5_Missense_Mutation_p.F706L|NOX5_ENST00000530406.2_Missense_Mutation_p.F696L|NOX5_ENST00000455873.3_Missense_Mutation_p.F689L	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	724					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.F706L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TCCAGGTGTTCCAGAAAGTGG	0.557																																						ENST00000260364.5																			1	Substitution - Missense(1)	p.F706L(1)	prostate(1)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2116-2118)ttC>ttA		NADPH oxidase, EF-hand calcium binding domain 5							86.0	82.0	84.0					15																	69348910		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69348910C>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2172C>A	15.37:g.69348910C>A	ENSP00000373518:p.Phe724Leu		Somatic				NOX5_ENST00000530406.2_Missense_Mutation_p.F696L|NOX5_ENST00000388866.3_Missense_Mutation_p.F724L|NOX5_ENST00000455873.3_Missense_Mutation_p.F689L|NOX5_ENST00000448182.3_Missense_Mutation_p.F678L	p.F706L			WXS	Illumina GAIIx	Phase_I	Q96PH1	NOX5_HUMAN			17	2419	+			724					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.2118C>A	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	C	9.647	1.140587	0.21205	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.93307	-3.2;-3.2;-3.2	3.41	3.41	0.39046	Ferric reductase, NAD binding (1);	0.071563	0.56097	U	0.000033	D	0.88485	0.6449	L	0.42581	1.335	0.43857	D	0.996453	B;B;B	0.29162	0.02;0.235;0.02	B;B;B	0.26094	0.027;0.066;0.027	D	0.85413	0.1138	10	0.30854	T	0.27	.	10.6097	0.45415	0.0:0.8025:0.1975:0.0	.	689;724;696	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	L	689;706;724;696	ENSP00000416828:F689L;ENSP00000373518:F724L;ENSP00000432440:F696L	ENSP00000373518:F724L	F	+	3	2	NOX5	67135964	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	0.641000	0.24720	1.746000	0.51805	0.505000	0.49811	TTC		0.557	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		26	145	26	145	---	---	---	---
HRC	3270	broad.mit.edu	37	19	49656664	49656664	+	Splice_Site	SNP	C	C	A			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr19:49656664C>A	ENST00000252825.4	-	1	2017	c.1831G>T	c.(1831-1833)Ggt>Tgt	p.G611C	HRC_ENST00000595625.1_Splice_Site_p.G611C	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	611					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)	p.G611C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCCACTTACCTGTGTCCTCA	0.632																																					Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			1	Substitution - Missense(1)	p.G611C(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(1831-1833)Ggt>Tgt		histidine rich calcium binding protein							92.0	76.0	82.0					19																	49656664		2203	4300	6503	SO:0001630	splice_region_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49656664C>A		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1831+1G>T	19.37:g.49656664C>A			Somatic				HRC_ENST00000595625.1_Splice_Site_p.G611C	p.G611C	NM_002152.2	NP_002143.1	WXS	Illumina GAIIx	Phase_I	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	2017	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	611					Q504Y6	Splice_Site	SNP	ENST00000252825.4	37	c.1831G>T	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.960315	0.53400	.	.	ENSG00000130528	ENST00000252825;ENST00000391863	T	0.51325	0.71	3.01	3.01	0.34805	.	.	.	.	.	T	0.49474	0.1559	L	0.51422	1.61	0.39039	D	0.960086	D	0.63046	0.992	P	0.52710	0.707	T	0.50659	-0.8802	8	.	.	.	-3.5834	9.7229	0.40313	0.0:1.0:0.0:0.0	.	611	P23327	SRCH_HUMAN	C	611;301	ENSP00000252825:G611C	.	G	-	1	0	HRC	54348476	0.954000	0.32549	0.966000	0.40874	0.624000	0.37722	2.584000	0.46102	2.016000	0.59253	0.563000	0.77884	GGT		0.632	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152	Missense_Mutation	3	72	3	72	---	---	---	---
NCAM2	4685	broad.mit.edu	37	21	22849736	22849736	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr21:22849736A>G	ENST00000400546.1	+	15	2270	c.2021A>G	c.(2020-2022)tAt>tGt	p.Y674C	NCAM2_ENST00000284894.7_Missense_Mutation_p.Y532C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	674	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y674C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGATTGGGATATTCTGAACCG	0.368																																						ENST00000400546.1																			1	Substitution - Missense(1)	p.Y674C(1)	prostate(1)	breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108						c.(2020-2022)tAt>tGt		neural cell adhesion molecule 2							91.0	85.0	87.0					21																	22849736		1871	4113	5984	SO:0001583	missense	4685				neuron cell-cell adhesion	integral to membrane|plasma membrane		g.chr21:22849736A>G		CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.2021A>G	21.37:g.22849736A>G	ENSP00000383392:p.Tyr674Cys		Somatic				NCAM2_ENST00000284894.7_Missense_Mutation_p.Y532C	p.Y674C	NM_004540.3	NP_004531.2	WXS	Illumina GAIIx	Phase_I	O15394	NCAM2_HUMAN		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)	15	2270	+		Lung NSC(9;0.195)	674			Fibronectin type-III 2.		A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	c.2021A>G	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	A	16.41	3.114208	0.56505	.	.	ENSG00000154654	ENST00000400546;ENST00000284894	T;T	0.53640	0.61;0.61	5.8	3.21	0.36854	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.202352	0.45126	D	0.000390	T	0.35682	0.0940	N	0.08118	0	0.80722	D	1	D;D	0.54397	0.966;0.966	P;P	0.52627	0.704;0.704	T	0.18116	-1.0347	10	0.40728	T	0.16	-18.2703	10.8739	0.46900	0.7994:0.0:0.0:0.2006	.	532;674	B7Z5K2;O15394	.;NCAM2_HUMAN	C	674;532	ENSP00000383392:Y674C;ENSP00000284894:Y532C	ENSP00000284894:Y532C	Y	+	2	0	NCAM2	21771607	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.972000	0.40540	2.213000	0.71641	0.528000	0.53228	TAT		0.368	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540		21	129	21	129	---	---	---	---
