#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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NPR1	4881	broad.mit.edu	37	1	153660685	153660685	+	Missense_Mutation	SNP	G	G	A	rs148747309		TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr1:153660685G>A	ENST00000368680.3	+	15	2877	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTGACGTTGCGCAAATTTAAC	0.582																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2404-2406)cGc>cAc		Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)		HIS/ARG	0,4406		0,0,2203	107.0	96.0	100.0		2405	3.4	1.0	1	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPR1	NM_000906.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	802/1062	153660685	1,13005	2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153660685G>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2405G>A	1.37:g.153660685G>A	ENSP00000357669:p.Arg802His		Somatic				NPR1_uc010pdz.2_Missense_Mutation_p.R548H|NPR1_uc010pea.2_Missense_Mutation_p.R280H	p.R802H	NM_000906	NP_000897	WXS	Illumina GAIIx	Phase_I	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		14	2826	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		802			Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.2405G>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	g	19.14	3.769733	0.69992	0.0	1.16E-4	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.62498	0.02	4.45	3.44	0.39384	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.63141	0.2486	M	0.82716	2.605	0.80722	D	1	P;D	0.56521	0.801;0.976	B;P	0.50082	0.199;0.63	T	0.70539	-0.4844	10	0.72032	D	0.01	.	11.267	0.49116	0.0:0.0:0.8168:0.1832	.	281;802	B7Z4Y7;P16066	.;ANPRA_HUMAN	H	802;281	ENSP00000357669:R802H	ENSP00000357669:R802H	R	+	2	0	NPR1	151927309	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.788000	0.47806	2.438000	0.82558	0.457000	0.33378	CGC		0.582	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		5	36	0	0	0	1	0	5	36				
RNASE1	6035	broad.mit.edu	37	14	21270003	21270003	+	Silent	SNP	C	C	T			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr14:21270003C>T	ENST00000397967.4	-	2	731	c.225G>A	c.(223-225)gtG>gtA	p.V75V	RNASE1_ENST00000340900.3_Silent_p.V75V|RNASE1_ENST00000397970.4_Silent_p.V75V|RNASE1_ENST00000555698.1_Silent_p.V35V|RNASE1_ENST00000412779.2_Silent_p.V75V	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	75					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	Guanidine(DB00536)|L-Aspartic Acid(DB00128)	GGGGCTCGTGCACAAAGGTGT	0.542																																						uc001vyf.3																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(223-225)gtG>gtA		Homo sapiens ribonuclease, RNase A family, 1 (pancreatic) (RNASE1), transcript variant 3, mRNA.							143.0	127.0	132.0					14																	21270003		2203	4300	6503	SO:0001819	synonymous_variant	6035					extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding	g.chr14:21270003C>T	BC005324	CCDS9559.1	14q11.2	2014-03-13			ENSG00000129538	ENSG00000129538	3.1.27.5	"""Ribonucleases, RNase A"""	10044	protein-coding gene	gene with protein product		180440		RNS1		8588814	Standard	NM_002933		Approved		uc001vyi.3	P07998	OTTHUMG00000029603	ENST00000397967.4:c.225G>A	14.37:g.21270003C>T			Somatic				RNASE1_uc001vyg.3_Silent_p.V75V|RNASE1_uc001vyh.3_Silent_p.V75V|RNASE1_uc001vyi.3_Silent_p.V75V|RNASE1_uc021rop.1_Silent_p.V75V	p.V75V	NM_198232	NP_937878	WXS	Illumina GAIIx	Phase_I	P07998	RNAS1_HUMAN	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	1	401	-	all_cancers(95;0.00671)	all_lung(585;0.235)	75					B2R589|D3DS06|Q16830|Q16869|Q1KHR2|Q6ICS5|Q9UCB4|Q9UCB5	Silent	SNP	ENST00000397967.4	37	c.225G>A	CCDS9559.1																																																																																				0.542	RNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073791.3			5	73	0	0	0	1	0	5	73				
IGFBP7	3490	broad.mit.edu	37	4	57898634	57898634	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr4:57898634T>C	ENST00000295666.4	-	4	820	c.787A>G	c.(787-789)Att>Gtt	p.I263V	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Missense_Mutation_p.I263V	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	263	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACCACTGTAATTTTTGCTGAT	0.368																																						uc003hcn.3																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(787-789)Att>Gtt		Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						141.0	131.0	134.0					4																	57898634		2203	4300	6503	SO:0001583	missense	3490				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	g.chr4:57898634T>C	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"""Immunoglobulin superfamily / I-set domain containing"""	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.787A>G	4.37:g.57898634T>C	ENSP00000295666:p.Ile263Val		Somatic				IGFBP7_uc011cag.2_Missense_Mutation_p.I263V	p.I263V	NM_001553	NP_001544	WXS	Illumina GAIIx	Phase_I	Q16270	IBP7_HUMAN			3	821	-	Glioma(25;0.08)|all_neural(26;0.181)		263			Ig-like C2-type.		B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Missense_Mutation	SNP	ENST00000295666.4	37	c.787A>G	CCDS3512.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.947232	0.53186	.	.	ENSG00000163453	ENST00000295666;ENST00000537922	T;T	0.38240	1.15;1.15	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	N	0.03115	-0.41	0.47009	D	0.999289	D;D	0.63880	0.958;0.993	D;D	0.76071	0.97;0.987	T	0.40194	-0.9576	10	0.18710	T	0.47	-5.5568	14.5594	0.68126	0.0:0.0:0.0:1.0	.	263;263	B4E1N2;Q16270	.;IBP7_HUMAN	V	263	ENSP00000295666:I263V;ENSP00000444146:I263V	ENSP00000295666:I263V	I	-	1	0	IGFBP7	57593391	1.000000	0.71417	0.926000	0.36857	0.916000	0.54674	6.820000	0.75267	2.172000	0.68678	0.533000	0.62120	ATT		0.368	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			6	35	0	0	0	1	0	6	35				
ACAN	176	broad.mit.edu	37	15	89391161	89391161	+	Missense_Mutation	SNP	C	C	T	rs143697605		TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr15:89391161C>T	ENST00000561243.1	+	8	1624	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	ACAN_ENST00000558207.1_Missense_Mutation_p.R542W|ACAN_ENST00000439576.2_Missense_Mutation_p.R542W|ACAN_ENST00000352105.7_Missense_Mutation_p.R542W|ACAN_ENST00000559004.1_Missense_Mutation_p.R542W			P16112	PGCA_HUMAN	aggrecan	542	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.R542W(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGAGCCCCCGGACCCCATG	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11533	0.0		0.0	False		,,,				2504	0.0					uc010upo.1																			1	Substitution - Missense(1)	p.R542W(2)|p.P541P(1)	large_intestine(1)	NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1624-1626)Cgg>Tgg		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.							72.0	75.0	74.0					15																	89391161		1949	4147	6096	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89391161C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1624C>T	15.37:g.89391161C>T	ENSP00000453342:p.Arg542Trp		Somatic				ACAN_uc002bmx.3_Missense_Mutation_p.R542W|ACAN_uc010upp.1_Missense_Mutation_p.R542W|ACAN_uc002bna.2_Non-coding_Transcript	p.R542W	NM_013227	NP_037359	WXS	Illumina GAIIx	Phase_I	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		8	1998	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		542					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1624C>T	CCDS53970.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.01	2.707015	0.48412	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.13901	2.55;2.55	5.35	3.4	0.38934	.	.	.	.	.	T	0.49541	0.1563	H	0.97103	3.94	0.40088	D	0.976221	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63817	-0.6551	9	0.87932	D	0	-18.098	11.6973	0.51551	0.3215:0.6785:0.0:0.0	.	542;542;542	E7ENV9;E7EX88;Q6PID9	.;.;.	W	542	ENSP00000387356:R542W;ENSP00000341615:R542W	ENSP00000268134:R542W	R	+	1	2	ACAN	87192165	0.202000	0.23423	0.676000	0.29932	0.976000	0.68499	0.725000	0.25970	0.581000	0.29539	0.563000	0.77884	CGG		0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	56	0	0	0	1	0	4	56				
FAM111A	63901	broad.mit.edu	37	11	58920619	58920619	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr11:58920619G>A	ENST00000528737.1	+	5	4296	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	FAM111A_ENST00000361723.3_Missense_Mutation_p.R493Q|FAM111A_ENST00000531147.1_Missense_Mutation_p.R493Q|FAM111A_ENST00000533703.1_Missense_Mutation_p.R493Q|FAM111A_ENST00000420244.1_Missense_Mutation_p.R493Q			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	493	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGGGTCAGCGAGCAAAGAAA	0.403																																						uc010rkp.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1477-1479)cGa>cAa		Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.							96.0	98.0	97.0					11																	58920619		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920619G>A	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1478G>A	11.37:g.58920619G>A	ENSP00000434435:p.Arg493Gln		Somatic				FAM111A_uc010rkq.2_Missense_Mutation_p.R493Q|FAM111A_uc010rkr.2_Missense_Mutation_p.R493Q|FAM111A_uc001nno.3_Missense_Mutation_p.R493Q|FAM111A_uc001nnp.3_Missense_Mutation_p.R493Q|FAM111A_uc001nnq.3_Missense_Mutation_p.R493Q	p.R493Q	NM_001142521	NP_942144	WXS	Illumina GAIIx	Phase_I	Q96PZ2	F111A_HUMAN			4	1705	+		all_epithelial(135;0.139)	493					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.1478G>A	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211715	0.58452	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.67	2.66	0.31614	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.413349	0.21534	N	0.073015	T	0.58278	0.2111	M	0.83953	2.67	0.09310	N	1	D	0.69078	0.997	P	0.54629	0.757	T	0.49808	-0.8900	10	0.42905	T	0.14	-0.2031	7.2558	0.26175	0.0929:0.0:0.739:0.1681	.	493	Q96PZ2	F111A_HUMAN	Q	493	ENSP00000434435:R493Q;ENSP00000406683:R493Q;ENSP00000355264:R493Q;ENSP00000433154:R493Q;ENSP00000431631:R493Q	ENSP00000355264:R493Q	R	+	2	0	FAM111A	58677195	0.002000	0.14202	0.091000	0.20842	0.014000	0.08584	0.942000	0.29017	1.340000	0.45581	-0.136000	0.14681	CGA		0.403	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		7	89	0	0	0	1	0	7	89				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		52	62	0	0	0	1	0	52	62				
MMAA	166785	broad.mit.edu	37	4	146560393	146560393	+	Silent	SNP	C	C	T	rs146372922	byFrequency	TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr4:146560393C>T	ENST00000281317.5	+	2	1312	c.102C>T	c.(100-102)ctC>ctT	p.L34L	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	34					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTACTCATCTCGGATCAGGAA	0.443													c|||	9	0.00179712	0.0068	0.0	5008	,	,		19886	0.0		0.0	False		,,,				2504	0.0					uc003ikh.4																			0		p.L34V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17						c.(100-102)ctC>ctT		Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C		16,4390	24.3+/-50.5	0,16,2187	149.0	143.0	145.0		102	-0.3	0.0	4	dbSNP_134	145	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MMAA	NM_172250.2		0,18,6485	TT,TC,CC		0.0233,0.3631,0.1384		34/419	146560393	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146560393C>T	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.102C>T	4.37:g.146560393C>T			Somatic				MMAA_uc010iow.3_Non-coding_Transcript	p.L34L	NM_172250	NP_758454	WXS	Illumina GAIIx	Phase_I	Q8IVH4	MMAA_HUMAN			1	187	+	all_hematologic(180;0.151)		34					B3KX40|Q495G7	Silent	SNP	ENST00000281317.5	37	c.102C>T	CCDS3766.1																																																																																				0.443	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			46	78	0	0	0	1	0	46	78				
TRMT1	55621	broad.mit.edu	37	19	13220604	13220604	+	Silent	SNP	T	T	C			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr19:13220604T>C	ENST00000592062.1	-	11	1725	c.1155A>G	c.(1153-1155)gaA>gaG	p.E385E	TRMT1_ENST00000437766.1_Silent_p.E385E|TRMT1_ENST00000221504.8_Silent_p.E356E|TRMT1_ENST00000357720.4_Silent_p.E385E			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	385	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCCCACAGTGTTCACACTCGG	0.627																																						uc002mwj.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1153-1155)gaA>gaG		Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.							76.0	78.0	77.0					19																	13220604		2203	4300	6503	SO:0001819	synonymous_variant	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13220604T>C	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1155A>G	19.37:g.13220604T>C			Somatic				TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Silent_p.E356E|TRMT1_uc002mwl.3_Silent_p.E385E|TRMT1_uc010xmz.1_Silent_p.E171E	p.E385E	NM_017722	NP_060192	WXS	Illumina GAIIx	Phase_I	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	8	1405	-			385					O76103|Q548Y5|Q8WVA6	Silent	SNP	ENST00000592062.1	37	c.1155A>G	CCDS12293.1																																																																																				0.627	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		10	26	0	0	0	1	0	10	26				
B3GNT3	10331	broad.mit.edu	37	19	17922809	17922809	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr19:17922809G>T	ENST00000318683.6	+	3	1144	c.997G>T	c.(997-999)Gac>Tac	p.D333Y	B3GNT3_ENST00000595387.1_Missense_Mutation_p.D333Y	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	333					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GTCCTCCTTTGACCCCTGCTT	0.622																																						uc002nhl.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(997-999)Gac>Tac		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.							130.0	119.0	123.0					19																	17922809		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922809G>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.997G>T	19.37:g.17922809G>T	ENSP00000321874:p.Asp333Tyr		Somatic				B3GNT3_uc010ebd.1_Missense_Mutation_p.D333Y|B3GNT3_uc010ebe.1_Missense_Mutation_p.D333Y	p.D333Y	NM_014256	NP_055071	WXS	Illumina GAIIx	Phase_I	Q9Y2A9	B3GN3_HUMAN			2	1144	+			333					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.997G>T	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577846	0.65878	.	.	ENSG00000179913	ENST00000318683	T	0.57107	0.42	5.23	5.23	0.72850	.	0.055773	0.64402	D	0.000002	T	0.78317	0.4264	M	0.91818	3.245	0.58432	D	0.99999	D	0.89917	1.0	D	0.78314	0.991	D	0.83673	0.0167	10	0.87932	D	0	.	16.2661	0.82579	0.0:0.0:1.0:0.0	.	333	Q9Y2A9	B3GN3_HUMAN	Y	333	ENSP00000321874:D333Y	ENSP00000321874:D333Y	D	+	1	0	B3GNT3	17783809	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	4.537000	0.60643	2.452000	0.82932	0.561000	0.74099	GAC		0.622	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		13	114	0	0	0	1	0	13	114				
NPR1	4881	broad.mit.edu	37	1	153660685	153660685	+	Missense_Mutation	SNP	G	G	A	rs148747309		TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chr1:153660685G>A	ENST00000368680.3	+	15	2877	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTGACGTTGCGCAAATTTAAC	0.582																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(2404-2406)cGc>cAc		Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)		HIS/ARG	0,4406		0,0,2203	107.0	96.0	100.0		2405	3.4	1.0	1	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPR1	NM_000906.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	802/1062	153660685	1,13005	2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153660685G>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2405G>A	1.37:g.153660685G>A	ENSP00000357669:p.Arg802His		Somatic				NPR1_uc010pdz.2_Missense_Mutation_p.R548H|NPR1_uc010pea.2_Missense_Mutation_p.R280H	p.R802H	NM_000906	NP_000897	WXS	Illumina GAIIx	Phase_I	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		14	2826	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		802			Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.2405G>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	g	19.14	3.769733	0.69992	0.0	1.16E-4	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.62498	0.02	4.45	3.44	0.39384	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000005	T	0.63141	0.2486	M	0.82716	2.605	0.80722	D	1	P;D	0.56521	0.801;0.976	B;P	0.50082	0.199;0.63	T	0.70539	-0.4844	10	0.72032	D	0.01	.	11.267	0.49116	0.0:0.0:0.8168:0.1832	.	281;802	B7Z4Y7;P16066	.;ANPRA_HUMAN	H	802;281	ENSP00000357669:R802H	ENSP00000357669:R802H	R	+	2	0	NPR1	151927309	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.788000	0.47806	2.438000	0.82558	0.457000	0.33378	CGC		0.582	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		5	36	0	0	0	1	0	5	36				
RNASE1	6035	broad.mit.edu	37	14	21270003	21270003	+	Silent	SNP	C	C	T			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chr14:21270003C>T	ENST00000397967.4	-	2	731	c.225G>A	c.(223-225)gtG>gtA	p.V75V	RNASE1_ENST00000340900.3_Silent_p.V75V|RNASE1_ENST00000397970.4_Silent_p.V75V|RNASE1_ENST00000555698.1_Silent_p.V35V|RNASE1_ENST00000412779.2_Silent_p.V75V	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	75					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular vesicular exosome (GO:0070062)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	Guanidine(DB00536)|L-Aspartic Acid(DB00128)	GGGGCTCGTGCACAAAGGTGT	0.542																																						uc001vyf.3																			0				central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5						c.(223-225)gtG>gtA		Homo sapiens ribonuclease, RNase A family, 1 (pancreatic) (RNASE1), transcript variant 3, mRNA.							143.0	127.0	132.0					14																	21270003		2203	4300	6503	SO:0001819	synonymous_variant	6035					extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding	g.chr14:21270003C>T	BC005324	CCDS9559.1	14q11.2	2014-03-13			ENSG00000129538	ENSG00000129538	3.1.27.5	"""Ribonucleases, RNase A"""	10044	protein-coding gene	gene with protein product		180440		RNS1		8588814	Standard	NM_002933		Approved		uc001vyi.3	P07998	OTTHUMG00000029603	ENST00000397967.4:c.225G>A	14.37:g.21270003C>T			Somatic				RNASE1_uc001vyg.3_Silent_p.V75V|RNASE1_uc001vyh.3_Silent_p.V75V|RNASE1_uc001vyi.3_Silent_p.V75V|RNASE1_uc021rop.1_Silent_p.V75V	p.V75V	NM_198232	NP_937878	WXS	Illumina GAIIx	Phase_I	P07998	RNAS1_HUMAN	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)	1	401	-	all_cancers(95;0.00671)	all_lung(585;0.235)	75					B2R589|D3DS06|Q16830|Q16869|Q1KHR2|Q6ICS5|Q9UCB4|Q9UCB5	Silent	SNP	ENST00000397967.4	37	c.225G>A	CCDS9559.1																																																																																				0.542	RNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073791.3			5	73	0	0	0	1	0	5	73				
IGFBP7	3490	broad.mit.edu	37	4	57898634	57898634	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chr4:57898634T>C	ENST00000295666.4	-	4	820	c.787A>G	c.(787-789)Att>Gtt	p.I263V	IGFBP7_ENST00000512512.1_5'UTR|IGFBP7_ENST00000537922.1_Missense_Mutation_p.I263V	NM_001553.2	NP_001544.1	Q16270	IBP7_HUMAN	insulin-like growth factor binding protein 7	263	Ig-like C2-type.				cell adhesion (GO:0007155)|cellular response to hormone stimulus (GO:0032870)|embryo implantation (GO:0007566)|inner ear development (GO:0048839)|negative regulation of cell proliferation (GO:0008285)|regulation of cell growth (GO:0001558)|regulation of steroid biosynthetic process (GO:0050810)|response to cortisol (GO:0051414)|response to heat (GO:0009408)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(1)|lung(3)	5	Glioma(25;0.08)|all_neural(26;0.181)				"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ACCACTGTAATTTTTGCTGAT	0.368																																						uc003hcn.3																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(787-789)Att>Gtt		Homo sapiens insulin-like growth factor binding protein 7 (IGFBP7), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						141.0	131.0	134.0					4																	57898634		2203	4300	6503	SO:0001583	missense	3490				cell adhesion|negative regulation of cell proliferation|regulation of cell growth	extracellular space	insulin-like growth factor binding	g.chr4:57898634T>C	S75725	CCDS3512.1	4q12	2013-01-11			ENSG00000163453	ENSG00000163453		"""Immunoglobulin superfamily / I-set domain containing"""	5476	protein-coding gene	gene with protein product		602867				7694637, 7980422	Standard	NM_001553		Approved	MAC25, IGFBP-7, PSF, FSTL2	uc003hcn.3	Q16270	OTTHUMG00000128772	ENST00000295666.4:c.787A>G	4.37:g.57898634T>C	ENSP00000295666:p.Ile263Val		Somatic				IGFBP7_uc011cag.2_Missense_Mutation_p.I263V	p.I263V	NM_001553	NP_001544	WXS	Illumina GAIIx	Phase_I	Q16270	IBP7_HUMAN			3	821	-	Glioma(25;0.08)|all_neural(26;0.181)		263			Ig-like C2-type.		B4E1N2|B7Z9W7|Q07822|Q53YE6|Q9UCA8	Missense_Mutation	SNP	ENST00000295666.4	37	c.787A>G	CCDS3512.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.947232	0.53186	.	.	ENSG00000163453	ENST00000295666;ENST00000537922	T;T	0.38240	1.15;1.15	5.71	5.71	0.89125	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	N	0.03115	-0.41	0.47009	D	0.999289	D;D	0.63880	0.958;0.993	D;D	0.76071	0.97;0.987	T	0.40194	-0.9576	10	0.18710	T	0.47	-5.5568	14.5594	0.68126	0.0:0.0:0.0:1.0	.	263;263	B4E1N2;Q16270	.;IBP7_HUMAN	V	263	ENSP00000295666:I263V;ENSP00000444146:I263V	ENSP00000295666:I263V	I	-	1	0	IGFBP7	57593391	1.000000	0.71417	0.926000	0.36857	0.916000	0.54674	6.820000	0.75267	2.172000	0.68678	0.533000	0.62120	ATT		0.368	IGFBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250693.1			6	35	0	0	0	1	0	6	35				
ACAN	176	broad.mit.edu	37	15	89391161	89391161	+	Missense_Mutation	SNP	C	C	T	rs143697605		TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chr15:89391161C>T	ENST00000561243.1	+	8	1624	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	ACAN_ENST00000558207.1_Missense_Mutation_p.R542W|ACAN_ENST00000439576.2_Missense_Mutation_p.R542W|ACAN_ENST00000352105.7_Missense_Mutation_p.R542W|ACAN_ENST00000559004.1_Missense_Mutation_p.R542W			P16112	PGCA_HUMAN	aggrecan	542	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.R542W(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGAGCCCCCGGACCCCATG	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11533	0.0		0.0	False		,,,				2504	0.0					uc010upo.1																			1	Substitution - Missense(1)	p.R542W(2)|p.P541P(1)	large_intestine(1)	NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1624-1626)Cgg>Tgg		Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.							72.0	75.0	74.0					15																	89391161		1949	4147	6096	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89391161C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1624C>T	15.37:g.89391161C>T	ENSP00000453342:p.Arg542Trp		Somatic				ACAN_uc002bmx.3_Missense_Mutation_p.R542W|ACAN_uc010upp.1_Missense_Mutation_p.R542W|ACAN_uc002bna.2_Non-coding_Transcript	p.R542W	NM_013227	NP_037359	WXS	Illumina GAIIx	Phase_I	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		8	1998	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		542					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1624C>T	CCDS53970.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.01	2.707015	0.48412	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.13901	2.55;2.55	5.35	3.4	0.38934	.	.	.	.	.	T	0.49541	0.1563	H	0.97103	3.94	0.40088	D	0.976221	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63817	-0.6551	9	0.87932	D	0	-18.098	11.6973	0.51551	0.3215:0.6785:0.0:0.0	.	542;542;542	E7ENV9;E7EX88;Q6PID9	.;.;.	W	542	ENSP00000387356:R542W;ENSP00000341615:R542W	ENSP00000268134:R542W	R	+	1	2	ACAN	87192165	0.202000	0.23423	0.676000	0.29932	0.976000	0.68499	0.725000	0.25970	0.581000	0.29539	0.563000	0.77884	CGG		0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		4	56	0	0	0	1	0	4	56				
FAM111A	63901	broad.mit.edu	37	11	58920619	58920619	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chr11:58920619G>A	ENST00000528737.1	+	5	4296	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	FAM111A_ENST00000361723.3_Missense_Mutation_p.R493Q|FAM111A_ENST00000531147.1_Missense_Mutation_p.R493Q|FAM111A_ENST00000533703.1_Missense_Mutation_p.R493Q|FAM111A_ENST00000420244.1_Missense_Mutation_p.R493Q			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	493	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGGGTCAGCGAGCAAAGAAA	0.403																																						uc010rkp.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1477-1479)cGa>cAa		Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.							96.0	98.0	97.0					11																	58920619		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58920619G>A	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1478G>A	11.37:g.58920619G>A	ENSP00000434435:p.Arg493Gln		Somatic				FAM111A_uc010rkq.2_Missense_Mutation_p.R493Q|FAM111A_uc010rkr.2_Missense_Mutation_p.R493Q|FAM111A_uc001nno.3_Missense_Mutation_p.R493Q|FAM111A_uc001nnp.3_Missense_Mutation_p.R493Q|FAM111A_uc001nnq.3_Missense_Mutation_p.R493Q	p.R493Q	NM_001142521	NP_942144	WXS	Illumina GAIIx	Phase_I	Q96PZ2	F111A_HUMAN			4	1705	+		all_epithelial(135;0.139)	493					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.1478G>A	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211715	0.58452	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000533703;ENST00000531147	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.67	2.66	0.31614	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.413349	0.21534	N	0.073015	T	0.58278	0.2111	M	0.83953	2.67	0.09310	N	1	D	0.69078	0.997	P	0.54629	0.757	T	0.49808	-0.8900	10	0.42905	T	0.14	-0.2031	7.2558	0.26175	0.0929:0.0:0.739:0.1681	.	493	Q96PZ2	F111A_HUMAN	Q	493	ENSP00000434435:R493Q;ENSP00000406683:R493Q;ENSP00000355264:R493Q;ENSP00000433154:R493Q;ENSP00000431631:R493Q	ENSP00000355264:R493Q	R	+	2	0	FAM111A	58677195	0.002000	0.14202	0.091000	0.20842	0.014000	0.08584	0.942000	0.29017	1.340000	0.45581	-0.136000	0.14681	CGA		0.403	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		7	89	0	0	0	1	0	7	89				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		52	62	0	0	0	1	0	52	62				
MMAA	166785	broad.mit.edu	37	4	146560393	146560393	+	Silent	SNP	C	C	T	rs146372922	byFrequency	TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chr4:146560393C>T	ENST00000281317.5	+	2	1312	c.102C>T	c.(100-102)ctC>ctT	p.L34L	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	34					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTACTCATCTCGGATCAGGAA	0.443													c|||	9	0.00179712	0.0068	0.0	5008	,	,		19886	0.0		0.0	False		,,,				2504	0.0					uc003ikh.4																			0		p.L34V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17						c.(100-102)ctC>ctT		Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	C		16,4390	24.3+/-50.5	0,16,2187	149.0	143.0	145.0		102	-0.3	0.0	4	dbSNP_134	145	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MMAA	NM_172250.2		0,18,6485	TT,TC,CC		0.0233,0.3631,0.1384		34/419	146560393	18,12988	2203	4300	6503	SO:0001819	synonymous_variant	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146560393C>T	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.102C>T	4.37:g.146560393C>T			Somatic				MMAA_uc010iow.3_Non-coding_Transcript	p.L34L	NM_172250	NP_758454	WXS	Illumina GAIIx	Phase_I	Q8IVH4	MMAA_HUMAN			1	187	+	all_hematologic(180;0.151)		34					B3KX40|Q495G7	Silent	SNP	ENST00000281317.5	37	c.102C>T	CCDS3766.1																																																																																				0.443	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			46	78	0	0	0	1	0	46	78				
TRMT1	55621	broad.mit.edu	37	19	13220604	13220604	+	Silent	SNP	T	T	C			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chr19:13220604T>C	ENST00000592062.1	-	11	1725	c.1155A>G	c.(1153-1155)gaA>gaG	p.E385E	TRMT1_ENST00000437766.1_Silent_p.E385E|TRMT1_ENST00000221504.8_Silent_p.E356E|TRMT1_ENST00000357720.4_Silent_p.E385E			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	385	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCCCACAGTGTTCACACTCGG	0.627																																						uc002mwj.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(1153-1155)gaA>gaG		Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.							76.0	78.0	77.0					19																	13220604		2203	4300	6503	SO:0001819	synonymous_variant	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13220604T>C	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1155A>G	19.37:g.13220604T>C			Somatic				TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Silent_p.E356E|TRMT1_uc002mwl.3_Silent_p.E385E|TRMT1_uc010xmz.1_Silent_p.E171E	p.E385E	NM_017722	NP_060192	WXS	Illumina GAIIx	Phase_I	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	8	1405	-			385					O76103|Q548Y5|Q8WVA6	Silent	SNP	ENST00000592062.1	37	c.1155A>G	CCDS12293.1																																																																																				0.627	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		10	26	0	0	0	1	0	10	26				
B3GNT3	10331	broad.mit.edu	37	19	17922809	17922809	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chr19:17922809G>T	ENST00000318683.6	+	3	1144	c.997G>T	c.(997-999)Gac>Tac	p.D333Y	B3GNT3_ENST00000595387.1_Missense_Mutation_p.D333Y	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	333					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GTCCTCCTTTGACCCCTGCTT	0.622																																						uc002nhl.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(997-999)Gac>Tac		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.							130.0	119.0	123.0					19																	17922809		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922809G>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.997G>T	19.37:g.17922809G>T	ENSP00000321874:p.Asp333Tyr		Somatic				B3GNT3_uc010ebd.1_Missense_Mutation_p.D333Y|B3GNT3_uc010ebe.1_Missense_Mutation_p.D333Y	p.D333Y	NM_014256	NP_055071	WXS	Illumina GAIIx	Phase_I	Q9Y2A9	B3GN3_HUMAN			2	1144	+			333					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.997G>T	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577846	0.65878	.	.	ENSG00000179913	ENST00000318683	T	0.57107	0.42	5.23	5.23	0.72850	.	0.055773	0.64402	D	0.000002	T	0.78317	0.4264	M	0.91818	3.245	0.58432	D	0.99999	D	0.89917	1.0	D	0.78314	0.991	D	0.83673	0.0167	10	0.87932	D	0	.	16.2661	0.82579	0.0:0.0:1.0:0.0	.	333	Q9Y2A9	B3GN3_HUMAN	Y	333	ENSP00000321874:D333Y	ENSP00000321874:D333Y	D	+	1	0	B3GNT3	17783809	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	4.537000	0.60643	2.452000	0.82932	0.561000	0.74099	GAC		0.622	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		13	114	0	0	0	1	0	13	114				
MED13	9969	broad.mit.edu	37	17	60142516	60142516	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	c65e4fef-29d8-47ae-aa97-f65bf352c24d	g.chr17:60142516delA	ENST00000397786.2	-	1	127	c.51delT	c.(49-51)tgtfs	p.C17fs		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	17					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGAGGTTACAGTGACAAT	0.716																																						uc002izo.3																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(49-51)tgtfs		Homo sapiens mediator complex subunit 13 (MED13), mRNA.							7.0	10.0	9.0					17																	60142516		1933	4134	6067	SO:0001589	frameshift_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60142516delA	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.51delT	17.37:g.60142516delA	ENSP00000380888:p.Cys17fs		Somatic					p.C17fs	NM_005121	NP_005112	WXS	Illumina GAIIx	Phase_I	Q9UHV7	MED13_HUMAN			0	128	-			17					B2RU05|O60334	Frame_Shift_Del	DEL	ENST00000397786.2	37	c.51delT	CCDS42366.1																																																																																				0.716	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		2	4						2	4	---	---	---	---
MED13	9969	broad.mit.edu	37	17	60142516	60142516	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chr17:60142516delA	ENST00000397786.2	-	1	127	c.51delT	c.(49-51)tgtfs	p.C17fs		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	17					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGAAGAGGTTACAGTGACAAT	0.716																																						uc002izo.3																			0				breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(49-51)tgtfs		Homo sapiens mediator complex subunit 13 (MED13), mRNA.							7.0	10.0	9.0					17																	60142516		1933	4134	6067	SO:0001589	frameshift_variant	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60142516delA	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.51delT	17.37:g.60142516delA	ENSP00000380888:p.Cys17fs		Somatic					p.C17fs	NM_005121	NP_005112	WXS	Illumina GAIIx	Phase_I	Q9UHV7	MED13_HUMAN			0	128	-			17					B2RU05|O60334	Frame_Shift_Del	DEL	ENST00000397786.2	37	c.51delT	CCDS42366.1																																																																																				0.716	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		2	4						2	4	---	---	---	---
LRCH2	57631	broad.mit.edu	37	X	114414309	114414309	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A45G-01A-11D-A23U-08	TCGA-BJ-A45G-11A-11D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c664ae81-8962-418c-8335-db2aa5ad98d3	d962e1b5-46ff-4ce3-8372-69616984a546	g.chrX:114414309delA	ENST00000317135.8	-	4	657	c.627delT	c.(625-627)attfs	p.I209fs	LRCH2_ENST00000538422.1_Frame_Shift_Del_p.I209fs	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	209										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CATTGCAGCTAATATCCTAAG	0.279																																						uc010nqe.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						c.(625-627)attfs		Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 2 (LRCH2), transcript variant 1, mRNA.							43.0	36.0	38.0					X																	114414309		1790	4047	5837	SO:0001589	frameshift_variant	57631							g.chrX:114414309delA	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.627delT	X.37:g.114414309delA	ENSP00000325091:p.Ile209fs		Somatic				LRCH2_uc004epz.3_Frame_Shift_Del_p.I209fs	p.I209fs	NM_020871	NP_065922	WXS	Illumina GAIIx	Phase_I	Q5VUJ6	LRCH2_HUMAN			3	658	-			209					F5H2T1|Q08AD5|Q9HA88|Q9P233	Frame_Shift_Del	DEL	ENST00000317135.8	37	c.627delT	CCDS48155.1																																																																																				0.279	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		2	4						2	4	---	---	---	---
