#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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
AP4B1	10717	broad.mit.edu	37	1	114443933	114443933	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:114443933C>A	ENST00000369569.1	-	4	822	c.542G>T	c.(541-543)aGg>aTg	p.R181M	AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000256658.4_Missense_Mutation_p.R181M|AP4B1_ENST00000369566.3_Intron|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	181					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTAGAGACCTCAAGCAGTT	0.408																																						ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(541-543)aGg>aTg		adaptor-related protein complex 4, beta 1 subunit							101.0	98.0	99.0					1																	114443933		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114443933C>A	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.542G>T	1.37:g.114443933C>A	ENSP00000358582:p.Arg181Met					AP4B1_ENST00000256658.4_Missense_Mutation_p.R181M|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Intron	p.R181M	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	822	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	181					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.542G>T	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.975820	0.74360	.	.	ENSG00000134262	ENST00000369569;ENST00000256658;ENST00000369564;ENST00000369571	T;T;T;T	0.13089	2.62;2.62;2.62;2.62	5.4	4.48	0.54585	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.049530	0.85682	D	0.000000	T	0.13457	0.0326	N	0.25380	0.74	0.80722	D	1	D	0.54397	0.966	P	0.62298	0.9	T	0.03773	-1.1005	10	0.52906	T	0.07	-0.2034	14.7153	0.69262	0.0:0.9299:0.0:0.0701	.	181	Q9Y6B7	AP4B1_HUMAN	M	181;181;106;181	ENSP00000358582:R181M;ENSP00000256658:R181M;ENSP00000358577:R106M;ENSP00000358584:R181M	ENSP00000256658:R181M	R	-	2	0	AP4B1	114245456	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.299000	0.59073	1.406000	0.46857	0.655000	0.94253	AGG		0.408	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		4	78	1	0	0.150653	0.150653	0.167393	4	78				
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs77504727		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:32725567C>T	ENST00000437316.2	-	4	803	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.R247H			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(739-741)cGt>cAt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725567C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.740G>A	6.37:g.32725567C>T	ENSP00000396330:p.Arg247His					HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H|HLA-DQB2_ENST00000411527.1_Intron	p.R247H			Q5SR06	Q5SR06_HUMAN			4	801	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.740G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.431383	0.00184	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00625	6.17;6.14	3.25	-3.63	0.04529	.	0.752796	0.12134	N	0.496536	T	0.00210	0.0006	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.25502	-1.0130	9	0.41790	T	0.15	.	9.6955	0.40154	0.0:0.4123:0.0:0.5877	rs34134876	247	A2ADX3	.	H	247	ENSP00000396330:R247H;ENSP00000410512:R247H	ENSP00000410512:R247H	R	-	2	0	HLA-DQB2	32833545	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-1.557000	0.02166	-0.833000	0.04245	-1.855000	0.00564	CGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			4	38	0	0	0	0.184627	0	4	38				
PPAPDC3	84814	broad.mit.edu	37	9	134165667	134165667	+	Silent	SNP	C	C	A	rs146871462		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr9:134165667C>A	ENST00000372264.3	+	1	587	c.283C>A	c.(283-285)Cgg>Agg	p.R95R	PPAPDC3_ENST00000372261.1_Silent_p.R95R	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	95					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		TATGTCCAAGCGGCTGGGGGT	0.652													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17122	0.0		0.0	False		,,,				2504	0.0					ENST00000372264.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(283-285)Cgg>Agg		phosphatidic acid phosphatase type 2 domain containing 3		C		2,4404	4.2+/-10.8	0,2,2201	73.0	74.0	74.0		283	4.7	1.0	9	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous	PPAPDC3	NM_032728.3		0,2,6501	AA,AC,CC		0.0,0.0454,0.0154		95/272	134165667	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134165667C>A	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.283C>A	9.37:g.134165667C>A						PPAPDC3_ENST00000372261.1_Silent_p.R95R	p.R95R	NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	1	587	+	all_hematologic(7;0.0119)		95					Q5T6P0|Q96SS7|Q9BRC3	Silent	SNP	ENST00000372264.3	37	c.283C>A	CCDS6942.1																																																																																				0.652	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		4	130	1	0	0.150653	0.150653	0.167393	4	130				
EFNB2	1948	broad.mit.edu	37	13	107147326	107147326	+	Silent	SNP	T	T	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr13:107147326T>A	ENST00000245323.4	-	4	665	c.516A>T	c.(514-516)ggA>ggT	p.G172G		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	172					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCTGGTTGATCCAGCAGAAC	0.383																																						ENST00000245323.4																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13						c.(514-516)ggA>ggT		ephrin-B2							219.0	206.0	211.0					13																	107147326		2203	4300	6503	SO:0001819	synonymous_variant	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107147326T>A	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.516A>T	13.37:g.107147326T>A							p.G172G	NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN			4	665	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		172					Q5JV56	Silent	SNP	ENST00000245323.4	37	c.516A>T	CCDS9507.1																																																																																				0.383	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4	NM_004093		90	111	0	0	0	0.870114	0	90	111				
SIPA1L1	26037	broad.mit.edu	37	14	72055666	72055666	+	Silent	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr14:72055666C>T	ENST00000555818.1	+	2	1425	c.1077C>T	c.(1075-1077)acC>acT	p.T359T	SIPA1L1_ENST00000358550.2_Silent_p.T359T|SIPA1L1_ENST00000381232.3_Silent_p.T359T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	359					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAGAAACACCACCACTGGAG	0.478																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(1075-1077)acC>acT		signal-induced proliferation-associated 1 like 1							62.0	65.0	64.0					14																	72055666		2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055666C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1077C>T	14.37:g.72055666C>T						SIPA1L1_ENST00000358550.2_Silent_p.T359T|SIPA1L1_ENST00000381232.3_Silent_p.T359T	p.T359T	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1425	+			359					J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.1077C>T	CCDS9807.1																																																																																				0.478	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		3	91	0	0	0	0.115264	0	3	91				
SLC26A8	116369	broad.mit.edu	37	6	35922951	35922951	+	Missense_Mutation	SNP	C	C	T	rs200862862		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:35922951C>T	ENST00000490799.1	-	17	2563	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q	SLC26A8_ENST00000394602.2_Missense_Mutation_p.R632Q|SLC26A8_ENST00000355574.2_Missense_Mutation_p.R737Q	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8									p.R737L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GACTAACCCCCGTGAATCCAC	0.527																																						ENST00000490799.1																			1	Substitution - Missense(1)	p.R737L(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2209-2211)cGg>cAg		solute carrier family 26 (anion exchanger), member 8		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	106.0	97.0	100.0		2210,2210,1895	-8.8	0.0	6		100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	SLC26A8	NM_001193476.1,NM_052961.3,NM_138718.2	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	737/971,737/971,632/866	35922951	1,13005	2203	4300	6503	SO:0001583	missense	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35922951C>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.2210G>A	6.37:g.35922951C>T	ENSP00000417638:p.Arg737Gln					SLC26A8_ENST00000355574.2_Missense_Mutation_p.R737Q|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R632Q	p.R737Q	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			17	2563	-			737			Interaction with RACGAP1.|STAS.			Missense_Mutation	SNP	ENST00000490799.1	37	c.2210G>A	CCDS4813.1	.	.	.	.	.	.	.	.	.	.	C	7.143	0.582222	0.13749	0.0	1.16E-4	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.87650	-2.28;-2.28;-2.28	4.58	-8.76	0.00830	Sulphate transporter/antisigma-factor antagonist STAS (4);	1.374740	0.04586	N	0.395897	T	0.53916	0.1826	N	0.17082	0.46	0.09310	N	1	B;B;B	0.24823	0.019;0.066;0.112	B;B;B	0.14578	0.006;0.004;0.011	T	0.51172	-0.8739	10	0.12103	T	0.63	.	16.8141	0.85729	0.0:0.274:0.0:0.726	.	737;632;319	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	Q	737;632;737	ENSP00000417638:R737Q;ENSP00000378100:R632Q;ENSP00000347778:R737Q	ENSP00000347778:R737Q	R	-	2	0	SLC26A8	36030929	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.938000	0.00684	-2.750000	0.00375	-1.731000	0.00696	CGG		0.527	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			59	92	0	0	0	0.870114	0	59	92				
COL4A6	1288	broad.mit.edu	37	X	107406179	107406179	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:107406179C>T	ENST00000372216.4	-	41	4262	c.4162G>A	c.(4162-4164)Gat>Aat	p.D1388N	COL4A6_ENST00000418180.1_5'Flank|COL4A6_ENST00000545689.1_Missense_Mutation_p.D1363N|COL4A6_ENST00000334504.7_Missense_Mutation_p.D1387N|COL4A6_ENST00000394872.2_Missense_Mutation_p.D1388N|COL4A6_ENST00000538570.1_Missense_Mutation_p.D1330N	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1388	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGGATGCCATCGATCCCTGGT	0.592									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	ENST00000394872.2																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						c.(4162-4164)Gat>Aat		collagen, type IV, alpha 6							122.0	119.0	120.0					X																	107406179		2203	4300	6503	SO:0001583	missense	1288	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107406179C>T	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4162G>A	X.37:g.107406179C>T	ENSP00000361290:p.Asp1388Asn					COL4A6_ENST00000372216.4_Missense_Mutation_p.D1388N|COL4A6_ENST00000545689.1_Missense_Mutation_p.D1363N|COL4A6_ENST00000334504.7_Missense_Mutation_p.D1387N|COL4A6_ENST00000538570.1_Missense_Mutation_p.D1330N	p.D1388N			Q14031	CO4A6_HUMAN			41	4393	-			1388			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.4162G>A	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	9.298	1.052415	0.19827	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93307	-3.19;-3.19;-3.19;-3.19;-3.2	4.23	3.36	0.38483	.	0.000000	0.43919	D	0.000505	D	0.89230	0.6656	L	0.31157	0.91	0.26926	N	0.966569	D;B;D;D	0.61697	0.99;0.054;0.982;0.99	P;B;P;P	0.50791	0.65;0.004;0.542;0.65	T	0.81011	-0.1126	10	0.17369	T	0.5	.	8.3797	0.32463	0.0:0.8072:0.0:0.1928	.	1363;1330;1388;1387	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	N	1388;1387;1388;1375;1363;1330	ENSP00000361290:D1388N;ENSP00000334733:D1387N;ENSP00000378340:D1388N;ENSP00000443707:D1363N;ENSP00000445236:D1330N	ENSP00000334733:D1387N	D	-	1	0	COL4A6	107292835	0.061000	0.20836	0.783000	0.31826	0.139000	0.21198	0.413000	0.21148	1.131000	0.42111	0.600000	0.82982	GAT		0.592	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			116	174	0	0	0	0.870114	0	116	174				
FRY	10129	broad.mit.edu	37	13	32747575	32747575	+	Silent	SNP	A	A	C			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr13:32747575A>C	ENST00000380250.3	+	19	2719	c.2223A>C	c.(2221-2223)gtA>gtC	p.V741V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	741						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCACGCTGTAGAAGGTTTTG	0.468																																						ENST00000380250.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(2221-2223)gtA>gtC		furry homolog (Drosophila)							170.0	172.0	171.0					13																	32747575		1974	4140	6114	SO:0001819	synonymous_variant	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32747575A>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2223A>C	13.37:g.32747575A>C							p.V741V	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	19	2719	+		Lung SC(185;0.0271)	741					Q9Y3N6	Silent	SNP	ENST00000380250.3	37	c.2223A>C	CCDS41875.1																																																																																				0.468	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		20	102	0	0	0	0.575678	0	20	102				
DDX11	1663	broad.mit.edu	37	12	31236926	31236926	+	Silent	SNP	T	T	C			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:31236926T>C	ENST00000407793.2	+	3	575	c.324T>C	c.(322-324)gcT>gcC	p.A108A	DDX11_ENST00000542838.1_Silent_p.A108A|DDX11_ENST00000228264.6_Silent_p.A82A|DDX11_ENST00000251758.5_Silent_p.A108A|DDX11_ENST00000545668.1_Silent_p.A108A|DDX11_ENST00000350437.4_Silent_p.A108A	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	108	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGAGGCCTGCTGGAGAACCGG	0.552										Multiple Myeloma(12;0.14)																												ENST00000251758.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(322-324)gcT>gcC		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							56.0	69.0	64.0					12																	31236926		2203	4299	6502	SO:0001819	synonymous_variant	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31236926T>C	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.324T>C	12.37:g.31236926T>C		Multiple Myeloma(12;0.14)				DDX11_ENST00000542838.1_Silent_p.A108A|DDX11_ENST00000407793.2_Silent_p.A108A|DDX11_ENST00000350437.4_Silent_p.A108A|DDX11_ENST00000228264.6_Silent_p.A82A|DDX11_ENST00000545668.1_Silent_p.A108A	p.A108A			Q96FC9	DDX11_HUMAN			3	575	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		108			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	c.324T>C	CCDS44856.1																																																																																				0.552	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		3	140	0	0	0	0.115264	0	3	140				
CSH1	1442	broad.mit.edu	37	17	61972456	61972456	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr17:61972456T>C	ENST00000316193.8	-	5	721	c.580A>G	c.(580-582)Aag>Gag	p.K194E	CSH1_ENST00000329882.8_3'UTR|CSH1_ENST00000453363.3_Missense_Mutation_p.K99E	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	194						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCCATGTCCTTCCTGAAGCAG	0.567									Russell-Silver syndrome																													ENST00000316193.8																			0				central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(580-582)Aag>Gag		chorionic somatomammotropin hormone 1 (placental lactogen)							134.0	114.0	121.0					17																	61972456		2197	4297	6494	SO:0001583	missense	1442	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61972456T>C	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"""chorionic somatomammotropin A"", ""placental lactogen"", ""choriomammotropin"""	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.580A>G	17.37:g.61972456T>C	ENSP00000316416:p.Lys194Glu					CSH1_ENST00000453363.3_Missense_Mutation_p.K99E|CSH1_ENST00000329882.8_3'UTR	p.K194E	NM_001317.5	NP_001308.1	P01243	CSH_HUMAN			5	721	-			194					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000316193.8	37	c.580A>G	CCDS11649.1	.	.	.	.	.	.	.	.	.	.	t	10.45	1.352408	0.24512	.	.	ENSG00000136488	ENST00000316193;ENST00000453363	T;D	0.91894	0.73;-2.93	2.56	1.44	0.22558	.	.	.	.	.	D	0.95796	0.8632	M	0.92367	3.3	0.34661	D	0.722665	B;D	0.65815	0.41;0.995	P;D	0.68039	0.449;0.955	D	0.94963	0.8110	9	0.87932	D	0	.	6.9507	0.24544	0.2053:0.0:0.0:0.7947	.	99;194	B1A4H2;Q6PF11	.;.	E	194;99	ENSP00000316416:K194E;ENSP00000402517:K99E	ENSP00000316416:K194E	K	-	1	0	CSH1	59326188	1.000000	0.71417	0.701000	0.30321	0.001000	0.01503	5.268000	0.65536	0.219000	0.20840	-0.877000	0.02976	AAG		0.567	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416040.1	NM_001317		80	108	0	0	0	0.870114	0	80	108				
HERC3	8916	broad.mit.edu	37	4	89583639	89583639	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:89583639A>G	ENST00000402738.1	+	11	1443	c.1204A>G	c.(1204-1206)Ata>Gta	p.I402V	HERC3_ENST00000264345.3_Missense_Mutation_p.I402V|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	402					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TACCAGTTTAATAAATGATGA	0.333																																						ENST00000402738.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45						c.(1204-1206)Ata>Gta		HECT and RLD domain containing E3 ubiquitin protein ligase 3							114.0	107.0	109.0					4																	89583639		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89583639A>G	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.1204A>G	4.37:g.89583639A>G	ENSP00000385684:p.Ile402Val					HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Missense_Mutation_p.I402V	p.I402V	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	11	1443	+			402					A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.1204A>G	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	A	6.463	0.453511	0.12283	.	.	ENSG00000138641	ENST00000402738;ENST00000264345	T;T	0.39056	1.1;1.1	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	N	0.08118	0	0.80722	D	1	B	0.20550	0.046	B	0.18871	0.023	T	0.07849	-1.0751	10	0.08837	T	0.75	.	14.3918	0.66983	1.0:0.0:0.0:0.0	.	402	Q15034	HERC3_HUMAN	V	402	ENSP00000385684:I402V;ENSP00000264345:I402V	ENSP00000264345:I402V	I	+	1	0	HERC3	89802662	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.158000	0.71851	2.044000	0.60594	0.533000	0.62120	ATA		0.333	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		45	60	0	0	0	0.870114	0	45	60				
EEA1	8411	broad.mit.edu	37	12	93244954	93244954	+	Missense_Mutation	SNP	C	C	T	rs557361655		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:93244954C>T	ENST00000322349.8	-	9	995	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	244					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTCTCGCTCACGTTCCAAGGT	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		17498	0.001		0.0	False		,,,				2504	0.0					ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(730-732)cGt>cAt		early endosome antigen 1							131.0	107.0	115.0					12																	93244954		2202	4300	6502	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93244954C>T	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.731G>A	12.37:g.93244954C>T	ENSP00000317955:p.Arg244His						p.R244H	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			9	995	-			244					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.731G>A	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650652	0.87958	.	.	ENSG00000102189	ENST00000322349;ENST00000540777	D	0.82893	-1.66	5.84	5.84	0.93424	.	0.000000	0.53938	D	0.000050	D	0.85309	0.5667	L	0.32530	0.975	0.53005	D	0.999961	D	0.89917	1.0	D	0.78314	0.991	T	0.80542	-0.1336	10	0.15499	T	0.54	.	15.6149	0.76756	0.0:0.8632:0.1368:0.0	.	244	Q15075	EEA1_HUMAN	H	244;243	ENSP00000317955:R244H	ENSP00000317955:R244H	R	-	2	0	EEA1	91769085	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	4.197000	0.58413	2.764000	0.94973	0.650000	0.86243	CGT		0.383	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		35	41	0	0	0	0.769981	0	35	41				
SLC6A6	6533	broad.mit.edu	37	3	14520692	14520692	+	Splice_Site	SNP	T	T	C	rs200367448		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr3:14520692T>C	ENST00000454876.2	+	13	1879	c.1550T>C	c.(1549-1551)gTt>gCt	p.V517A	SLC6A6_ENST00000360861.3_Splice_Site_p.V517A			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	517					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GTTCTCTGTGTTGTGAGTTCC	0.517																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.e13+1		solute carrier family 6 (neurotransmitter transporter), member 6							135.0	118.0	124.0					3																	14520692		2203	4300	6503	SO:0001630	splice_region_variant	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14520692T>C		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1551+1T>C	3.37:g.14520692T>C						SLC6A6_ENST00000360861.3_Splice_Site_p.V517_splice	p.V517_splice			P31641	SC6A6_HUMAN			13	1879	+			517					B2RNU7|Q9BRI2|Q9BXB0	Splice_Site	SNP	ENST00000454876.2	37	c.1551_splice	CCDS33705.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	T	12.54	1.968630	0.34754	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.74842	-0.88;-0.88	5.55	3.13	0.36017	.	0.226218	0.45606	D	0.000360	T	0.56630	0.1998	N	0.17901	0.54	0.43808	D	0.99636	B	0.02656	0.0	B	0.04013	0.001	T	0.48725	-0.9010	10	0.28530	T	0.3	.	10.0804	0.42386	0.0:0.1388:0.0:0.8612	.	517	P31641	SC6A6_HUMAN	A	517	ENSP00000398063:V517A;ENSP00000354107:V517A	ENSP00000354107:V517A	V	+	2	0	SLC6A6	14495696	1.000000	0.71417	0.984000	0.44739	0.885000	0.51271	1.892000	0.39748	0.937000	0.37394	0.482000	0.46254	GTT		0.517	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043	Missense_Mutation	36	66	0	0	0	0.796494	0	36	66				
F8	2157	broad.mit.edu	37	X	154176084	154176084	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:154176084G>T	ENST00000360256.4	-	13	2202	c.2002C>A	c.(2002-2004)Ctt>Att	p.L668I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	668	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGACAGAAAGGAAGTCAGTC	0.413																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(2002-2004)Ctt>Att		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						179.0	147.0	157.0					X																	154176084		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154176084G>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.2002C>A	X.37:g.154176084G>T	ENSP00000353393:p.Leu668Ile						p.L668I	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			13	2202	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		668			F5/8 type A 2.|Plastocyanin-like 4.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.2002C>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524512	0.64747	.	.	ENSG00000185010	ENST00000360256	D	0.99762	-6.67	4.64	3.7	0.42460	Cupredoxin (2);	0.000000	0.64402	D	0.000002	D	0.99396	0.9787	L	0.47716	1.5	0.31048	N	0.715563	D	0.76494	0.999	D	0.80764	0.994	D	0.98824	1.0748	10	0.32370	T	0.25	-11.6158	7.1839	0.25789	0.1512:0.0:0.8488:0.0	.	668	P00451	FA8_HUMAN	I	668	ENSP00000353393:L668I	ENSP00000353393:L668I	L	-	1	0	F8	153829278	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	6.527000	0.73803	0.728000	0.32382	0.600000	0.82982	CTT		0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			4	122	1	0	0.000602214	0.184627	0.000722657	4	122				
SPATA31E1	286234	broad.mit.edu	37	9	90502800	90502800	+	Missense_Mutation	SNP	G	G	A	rs531419008		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr9:90502800G>A	ENST00000325643.5	+	4	3464	c.3398G>A	c.(3397-3399)cGc>cAc	p.R1133H		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1133					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTTCCAGGCCGCCACATGGAC	0.642													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16672	0.0		0.0	False		,,,				2504	0.0					ENST00000325643.5																			0											c.(3397-3399)cGc>cAc		SPATA31 subfamily E, member 1							42.0	48.0	46.0					9																	90502800		2202	4300	6502	SO:0001583	missense	286234							g.chr9:90502800G>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3398G>A	9.37:g.90502800G>A	ENSP00000322640:p.Arg1133His						p.R1133H	NM_178828.4	NP_849150.3					4	3464	+								B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	c.3398G>A	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	g	6.748	0.506769	0.12883	.	.	ENSG00000177992	ENST00000325643	T	0.03745	3.82	2.87	0.724	0.18236	.	.	.	.	.	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	P	0.53809	0.735	T	0.44892	-0.9298	9	0.34782	T	0.22	.	3.7023	0.08387	0.1769:0.2926:0.5305:0.0	.	1133	Q6ZUB1	CI079_HUMAN	H	1133	ENSP00000322640:R1133H	ENSP00000322640:R1133H	R	+	2	0	C9orf79	89692620	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.272000	0.01165	0.171000	0.19730	-0.345000	0.07892	CGC		0.642	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		29	47	0	0	0	0.750413	0	29	47				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T	rs192508624	byFrequency	TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353																																						ENST00000414190.2																			0																																																			0							g.chr15:85053124G>T																													15.37:g.85053124G>T								NR_003246.2						0	328	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.353	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			4	21	1	0	0.000602214	0.184627	0.000722657	4	21				
THOP1	7064	broad.mit.edu	37	19	2810741	2810741	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr19:2810741G>T	ENST00000307741.6	+	11	1949	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D	THOP1_ENST00000586677.1_Missense_Mutation_p.E461D|THOP1_ENST00000395212.4_Missense_Mutation_p.E93D	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	582					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGCCAGGAGATCCTCGGGG	0.662																																						ENST00000307741.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14						c.(1744-1746)gaG>gaT		thimet oligopeptidase 1							19.0	19.0	19.0					19																	2810741		2189	4292	6481	SO:0001583	missense	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2810741G>T		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1746G>T	19.37:g.2810741G>T	ENSP00000304467:p.Glu582Asp					THOP1_ENST00000395212.4_Missense_Mutation_p.E93D|THOP1_ENST00000586677.1_Missense_Mutation_p.E461D	p.E582D	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1949	+			582					B3KSE2|Q9UCB3	Missense_Mutation	SNP	ENST00000307741.6	37	c.1746G>T	CCDS12095.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524039	0.27299	.	.	ENSG00000172009	ENST00000307741;ENST00000395212	T;T	0.12879	2.88;2.64	4.54	-8.04	0.01110	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.369632	0.29822	N	0.011113	T	0.10337	0.0253	L	0.51914	1.62	0.45239	D	0.998245	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.09377	0.004;0.003;0.004	T	0.07809	-1.0753	10	0.41790	T	0.15	-22.7065	13.7944	0.63162	0.0737:0.6621:0.2642:0.0	.	461;93;582	B4DU96;B3KSE2;P52888	.;.;THOP1_HUMAN	D	582;93	ENSP00000304467:E582D;ENSP00000378638:E93D	ENSP00000304467:E582D	E	+	3	2	THOP1	2761741	0.996000	0.38824	0.918000	0.36340	0.053000	0.15095	0.310000	0.19356	-0.849000	0.04158	-0.321000	0.08615	GAG		0.662	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			4	9	1	0	0.000602214	0.184627	0.000722657	4	9				
MAP3K5	4217	broad.mit.edu	37	6	136935398	136935398	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:136935398A>G	ENST00000359015.4	-	16	2537	c.2177T>C	c.(2176-2178)aTa>aCa	p.I726T	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	726	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATGCAATGCTATTTCTTCATG	0.363																																						ENST00000359015.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58						c.(2176-2178)aTa>aCa		mitogen-activated protein kinase kinase kinase 5							176.0	169.0	171.0					6																	136935398		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136935398A>G	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.2177T>C	6.37:g.136935398A>G	ENSP00000351908:p.Ile726Thr					MAP3K5_ENST00000355845.4_5'UTR	p.I726T	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	16	2537	-	Colorectal(23;0.24)		726			Protein kinase.		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.2177T>C	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.375957	0.82682	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.28255	1.62	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.87578	0.998;0.995	T	0.59075	-0.7522	10	0.87932	D	0	.	15.9113	0.79475	1.0:0.0:0.0:0.0	.	806;726	Q59GL6;Q99683	.;M3K5_HUMAN	T	726;806	ENSP00000351908:I726T	ENSP00000351908:I726T	I	-	2	0	MAP3K5	136977091	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.910000	0.92685	2.210000	0.71456	0.528000	0.53228	ATA		0.363	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1			64	100	0	0	0	0.870114	0	64	100				
LPAL2	80350	broad.mit.edu	37	6	160906846	160906846	+	RNA	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:160906846C>T	ENST00000335388.5	-	0	850					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CAAAGACGTACGCATTTGGGT	0.463																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5																																														0							g.chr6:160906846C>T	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160906846C>T								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	850	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																						0.463	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		100	187	0	0	0	0.870114	0	100	187				
CASP1	834	broad.mit.edu	37	11	104897665	104897665	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr11:104897665C>A	ENST00000533400.1	-	8	1055	c.1020G>T	c.(1018-1020)tgG>tgT	p.W340C	CASP1_ENST00000353247.5_Missense_Mutation_p.W24C|CASP1_ENST00000415981.2_Missense_Mutation_p.W24C|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000393136.4_Missense_Mutation_p.W319C|CASP1_ENST00000534497.1_Missense_Mutation_p.W199C|CASP1_ENST00000527979.1_Missense_Mutation_p.W303C|CASP1_ENST00000526568.1_Missense_Mutation_p.W247C|CASP1_ENST00000525825.1_Missense_Mutation_p.W319C|CASP1_ENST00000598974.1_Missense_Mutation_p.W340C|CASP1_ENST00000593315.1_Missense_Mutation_p.W319C|CASP1_ENST00000446369.1_Missense_Mutation_p.W199C|CASP1_ENST00000531166.1_Missense_Mutation_p.W24C|CASP1_ENST00000436863.3_Missense_Mutation_p.W340C|CASP1_ENST00000594519.1_Missense_Mutation_p.W199C	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	340					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	TGGGATGTCTCCAAGAAACAT	0.403																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(1018-1020)tgG>tgT		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						87.0	83.0	84.0					11																	104897665		2202	4298	6500	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104897665C>A	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.1020G>T	11.37:g.104897665C>A	ENSP00000433138:p.Trp340Cys					CASP1_ENST00000598974.1_Missense_Mutation_p.W340C|CASP1_ENST00000531166.1_Missense_Mutation_p.W24C|CASP1_ENST00000415981.2_Missense_Mutation_p.W24C|CASP1_ENST00000393136.4_Missense_Mutation_p.W319C|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000527979.1_Missense_Mutation_p.W303C|CASP1_ENST00000353247.5_Missense_Mutation_p.W24C|CASP1_ENST00000526568.1_Missense_Mutation_p.W247C|CASP1_ENST00000525825.1_Missense_Mutation_p.W319C|CASP1_ENST00000594519.1_Missense_Mutation_p.W199C|CASP1_ENST00000593315.1_Missense_Mutation_p.W319C|CASP1_ENST00000534497.1_Missense_Mutation_p.W199C|CASP1_ENST00000446369.1_Missense_Mutation_p.W199C|CASP1_ENST00000436863.3_Missense_Mutation_p.W340C	p.W340C	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	8	1055	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	340					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.1020G>T	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	14.17	2.455623	0.43634	.	.	ENSG00000137752	ENST00000532439;ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000415981;ENST00000446369;ENST00000353247;ENST00000393136;ENST00000525825;ENST00000531166;ENST00000534497	T;T;T;T;T;T;T;T;T;T;T;T	0.46451	1.96;1.96;1.96;1.96;1.96;1.96;0.87;1.96;1.96;1.96;1.96;0.87	4.06	4.06	0.47325	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.203735	0.45867	D	0.000334	T	0.71863	0.3390	M	0.93720	3.45	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.996;0.998;0.994;0.994	T	0.80525	-0.1344	10	0.87932	D	0	.	14.0967	0.65027	0.0:1.0:0.0:0.0	.	24;199;340;319;340;303;247	P29466-5;P29466-4;A8K249;P29466-2;P29466;G3V169;P29466-3	.;.;.;.;CASP1_HUMAN;.;.	C	189;247;303;340;340;24;199;24;319;319;24;199	ENSP00000435536:W189C;ENSP00000434250:W247C;ENSP00000432340:W303C;ENSP00000433138:W340C;ENSP00000410076:W340C;ENSP00000408446:W24C;ENSP00000403260:W199C;ENSP00000344132:W24C;ENSP00000376844:W319C;ENSP00000434779:W319C;ENSP00000434303:W24C;ENSP00000436875:W199C	ENSP00000344132:W24C	W	-	3	0	CASP1	104402875	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	3.114000	0.50383	2.244000	0.73946	0.460000	0.39030	TGG		0.403	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		4	146	1	0	0.00909568	0.150653	0.0107008	4	146				
ADH1A	124	broad.mit.edu	37	4	100205754	100205754	+	Silent	SNP	G	G	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:100205754G>A	ENST00000209668.2	-	5	482	c.369C>T	c.(367-369)acC>acT	p.T123T	ADH1A_ENST00000511656.1_5'Flank|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	123					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	CATCCTGCAGGGTCCCCTGAG	0.517																																						ENST00000209668.2																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(367-369)acC>acT		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						74.0	73.0	73.0					4																	100205754		2203	4300	6503	SO:0001819	synonymous_variant	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100205754G>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.369C>T	4.37:g.100205754G>A						RP11-696N14.1_ENST00000500358.2_RNA	p.T123T	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	5	482	-			123					A8K3E3|Q17R68	Silent	SNP	ENST00000209668.2	37	c.369C>T	CCDS3648.1																																																																																				0.517	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		21	38	0	0	0	0.608945	0	21	38				
MAGI3	260425	broad.mit.edu	37	1	114225640	114225640	+	Silent	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:114225640A>G	ENST00000307546.9	+	21	3525	c.3450A>G	c.(3448-3450)gaA>gaG	p.E1150E	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1175					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAATTGAAGAATCTTTGAGAG	0.368																																						ENST00000307546.9																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3448-3450)gaA>gaG		membrane associated guanylate kinase, WW and PDZ domain containing 3							79.0	74.0	75.0					1																	114225640		1568	3582	5150	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114225640A>G	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3450A>G	1.37:g.114225640A>G						MAGI3_ENST00000369615.1_3'UTR	p.E1150E	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	21	3525	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1175					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.3450A>G	CCDS44196.1																																																																																				0.368	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		3	41	0	0	0	0.115264	0	3	41				
VHLL	391104	broad.mit.edu	37	1	156268966	156268966	+	Silent	SNP	C	C	T	rs537361828		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:156268966C>T	ENST00000339922.3	-	1	462	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	5										endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCCCGTTCCCCGCTCTCCAGG	0.597																																						ENST00000339922.3																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(13-15)gcG>gcA		von Hippel-Lindau tumor suppressor-like							40.0	45.0	43.0					1																	156268966		2202	4298	6500	SO:0001819	synonymous_variant	391104				protein ubiquitination	nucleus		g.chr1:156268966C>T			1q22	2013-09-24			ENSG00000189030	ENSG00000189030			30666	protein-coding gene	gene with protein product			"""VHL pseudogene"""	VHLP		14757845	Standard	NM_001004319		Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.15G>A	1.37:g.156268966C>T							p.A5A	NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN			1	462	-	Hepatocellular(266;0.158)		5					A1L4M4	Silent	SNP	ENST00000339922.3	37	c.15G>A																																																																																					0.597	VHLL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060590.3	NM_001004319		9	127	0	0	0	0.361761	0	9	127				
SERHL2	253190	broad.mit.edu	37	22	42971987	42971987	+	IGR	SNP	T	T	C	rs137064	byFrequency	TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr22:42971987T>C	ENST00000327678.5	+	0	1374				RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2								hydrolase activity (GO:0016787)	p.Q59R(1)		breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CAGCTCTTTTTGGCTGCGCTT	0.672													.|||	2207	0.440695	0.6831	0.2277	5008	,	,		16271	0.6845		0.171	False		,,,				2504	0.2904					ENST00000357802.2																			1	Substitution - Missense(1)	p.Q59R(1)	prostate(1)																																														SO:0001628	intergenic_variant	0							g.chr22:42971987T>C		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892		22.37:g.42971987T>C														0	733	-								Q5JZ95|Q9UH21	RNA	SNP	ENST00000327678.5	37		CCDS14037.1																																																																																				0.672	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		3	22	0	0	0	0.115264	0	3	22				
HLA-DQB2	3120	broad.mit.edu	37	6	32725572	32725572	+	Silent	SNP	G	G	A	rs112126661		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:32725572G>A	ENST00000437316.2	-	4	798	c.735C>T	c.(733-735)atC>atT	p.I245I	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Silent_p.I245I			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	249					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGTGACGGATGATAAGGCCCA	0.557																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(733-735)atC>atT		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725572G>A	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.735C>T	6.37:g.32725572G>A						HLA-DQB2_ENST00000437316.2_Silent_p.I245I|HLA-DQB2_ENST00000411527.1_Intron	p.I245I			Q5SR06	Q5SR06_HUMAN			4	796	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.735C>T																																																																																					0.557	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			4	37	0	0	0	0.150653	0	4	37				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		4	86	0	0	0	0.150653	0	4	86				
KRAS	3845	broad.mit.edu	37	12	25398306	25398306	+	Missense_Mutation	SNP	T	T	C	rs193929331		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:25398306T>C	ENST00000256078.4	-	2	76	c.13A>G	c.(13-15)Aaa>Gaa	p.K5E	KRAS_ENST00000556131.1_Missense_Mutation_p.K5E|KRAS_ENST00000557334.1_Missense_Mutation_p.K5E|KRAS_ENST00000311936.3_Missense_Mutation_p.K5E	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	5			K -> E (in NS3). {ECO:0000269|PubMed:17468812}.|K -> N (in GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild- type protein). {ECO:0000269|PubMed:14534542}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|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)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.K5E(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			ACCACAAGTTTATATTCAGTC	0.358		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3		119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	1	Substitution - Missense(1)	p.K5E(1)	haematopoietic_and_lymphoid_tissue(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM073168	KRAS	M	rs121918682	c.(13-15)Aaa>Gaa		Kirsten rat sarcoma viral oncogene homolog							77.0	70.0	73.0					12																	25398306		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous 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;CFC, CFCS	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|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398306T>C	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.13A>G	12.37:g.25398306T>C	ENSP00000256078:p.Lys5Glu	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000256078.4_Missense_Mutation_p.K5E|KRAS_ENST00000557334.1_Missense_Mutation_p.K5E|KRAS_ENST00000556131.1_Missense_Mutation_p.K5E	p.K5E	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	204	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		5		K -> E (in NS3).|K -> N (in GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild- type protein).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.13A>G	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.975116	0.92919	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95137	0.8424	H	0.97918	4.105	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.69654	0.933;0.965	D	0.96809	0.9595	10	0.87932	D	0	.	14.768	0.69654	0.0:0.0:0.0:1.0	.	5;5	P01116-2;P01116	.;RASK_HUMAN	E	5	ENSP00000308495:K5E;ENSP00000452512:K5E;ENSP00000256078:K5E;ENSP00000451856:K5E	ENSP00000256078:K5E	K	-	1	0	KRAS	25289573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.963000	0.87922	2.155000	0.67459	0.460000	0.39030	AAA		0.358	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		20	31	0	0	0	0.592651	0	20	31				
PLXNA3	55558	broad.mit.edu	37	X	153695648	153695648	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:153695648G>T	ENST00000369682.3	+	19	3450	c.3275G>T	c.(3274-3276)cGg>cTg	p.R1092L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1092	IPT/TIG 3.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCAGCCTCGGGCGCAAGGC	0.617																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(3274-3276)cGg>cTg		plexin A3							49.0	49.0	49.0					X																	153695648		2202	4299	6501	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153695648G>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3275G>T	X.37:g.153695648G>T	ENSP00000358696:p.Arg1092Leu						p.R1092L	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			19	3450	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1092			IPT/TIG 3.		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.3275G>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	6.767	0.510360	0.12883	.	.	ENSG00000130827	ENST00000369682	T	0.00986	5.47	5.67	-4.03	0.04021	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);	0.292311	0.20047	U	0.100399	T	0.00384	0.0012	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.44757	-0.9307	10	0.24483	T	0.36	.	1.7524	0.02975	0.3528:0.1305:0.3559:0.1608	.	1092	P51805	PLXA3_HUMAN	L	1092	ENSP00000358696:R1092L	ENSP00000358696:R1092L	R	+	2	0	PLXNA3	153348842	0.000000	0.05858	0.036000	0.18154	0.803000	0.45373	-0.498000	0.06420	-0.371000	0.08004	-0.257000	0.10917	CGG		0.617	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		28	112	1	0	4.65686e-17	0.788014	6.20915e-17	28	112				
ATP8B2	57198	broad.mit.edu	37	1	154306628	154306628	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:154306628G>A	ENST00000368489.3	+	10	734	c.734G>A	c.(733-735)aGc>aAc	p.S245N	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Missense_Mutation_p.S231N|ATP8B2_ENST00000368487.3_Missense_Mutation_p.S212N	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	231					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACAAATTCAGCGGAACCCTC	0.512																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(733-735)aGc>aAc		ATPase, aminophospholipid transporter, class I, type 8B, member 2							231.0	242.0	238.0					1																	154306628		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154306628G>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.734G>A	1.37:g.154306628G>A	ENSP00000357475:p.Ser245Asn					ATP8B2_ENST00000341822.2_Missense_Mutation_p.S231N|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.S212N	p.S245N	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		10	734	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		231					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.734G>A	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279000	0.40294	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	T;T;T	0.74842	-0.88;-0.88;-0.88	5.3	5.3	0.74995	ATPase, P-type, ATPase-associated domain (1);	0.168925	0.52532	D	0.000065	T	0.45677	0.1354	N	0.16037	0.36	0.29203	N	0.875078	P;B;B	0.34615	0.459;0.288;0.004	B;B;B	0.40506	0.331;0.133;0.008	T	0.38824	-0.9643	10	0.18710	T	0.47	.	13.4199	0.60992	0.0:0.1576:0.8424:0.0	.	231;245;212	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	N	212;245;231	ENSP00000357472:S212N;ENSP00000357475:S245N;ENSP00000340448:S231N	ENSP00000340448:S231N	S	+	2	0	ATP8B2	152573252	0.960000	0.32886	0.987000	0.45799	0.968000	0.65278	1.586000	0.36611	2.761000	0.94854	0.591000	0.81541	AGC		0.512	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		14	379	0	0	0	0.500413	0	14	379				
SPATA18	132671	broad.mit.edu	37	4	52945942	52945942	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:52945942G>T	ENST00000295213.4	+	9	1586	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	404					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.K404N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAATCCCAAGATTTCATTCC	0.443																																						ENST00000295213.4																			2	Substitution - Missense(2)	p.K404N(2)	lung(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1210-1212)aaG>aaT		spermatogenesis associated 18							289.0	270.0	277.0					4																	52945942		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52945942G>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1212G>T	4.37:g.52945942G>T	ENSP00000295213:p.Lys404Asn					SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	p.K404N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		9	1586	+			404					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1212G>T	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559194	0.65538	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.34859	1.34;3.69	5.4	5.4	0.78164	.	0.318068	0.38326	N	0.001736	T	0.52322	0.1727	L	0.55481	1.735	0.43647	D	0.996057	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.85130	0.973;0.973;0.997	T	0.51474	-0.8701	10	0.66056	D	0.02	-28.9994	9.989	0.41858	0.089:0.0:0.911:0.0	.	372;404;404	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	N	404;372	ENSP00000295213:K404N;ENSP00000415309:K372N	ENSP00000295213:K404N	K	+	3	2	SPATA18	52640699	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.347000	0.44036	2.814000	0.96858	0.655000	0.94253	AAG		0.443	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		8	287	1	0	7.48243e-07	0.335167	9.55204e-07	8	287				
DDIT3	1649	broad.mit.edu	37	12	57910597	57910597	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:57910597C>T	ENST00000346473.3	-	4	684	c.505G>A	c.(505-507)Gca>Aca	p.A169T	RN7SL312P_ENST00000582079.1_RNA|MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000551116.1_Missense_Mutation_p.A192T|DDIT3_ENST00000547303.1_Missense_Mutation_p.A169T|DDIT3_ENST00000552740.1_Missense_Mutation_p.A192T	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	169					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						ATTGTTCATGCTTGGTGCAGA	0.537			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)	ENST00000551116.1				Dom	yes		12	12q13.1-q13.2	1649	T	DNA-damage-inducible transcript 3			M	FUS		liposarcoma	EWSR1/DDIT3(45)|FUS/DDIT3(631)	0				central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						c.(574-576)Gca>Aca		DNA-damage-inducible transcript 3							81.0	83.0	82.0					12																	57910597		2203	4300	6503	SO:0001583	missense	1649				cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr12:57910597C>T	BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"""C/EBP zeta"""	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.505G>A	12.37:g.57910597C>T	ENSP00000340671:p.Ala169Thr					DDIT3_ENST00000552740.1_Missense_Mutation_p.A192T|DDIT3_ENST00000346473.3_Missense_Mutation_p.A169T|DDIT3_ENST00000547303.1_Missense_Mutation_p.A169T	p.A192T	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN			4	841	-			169					F8VS99	Missense_Mutation	SNP	ENST00000346473.3	37	c.574G>A	CCDS8943.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.691963	0.30052	.	.	ENSG00000175197	ENST00000547303;ENST00000551116;ENST00000346473;ENST00000552740	T;T;T;T	0.55052	0.65;0.54;0.65;0.54	5.75	-0.00764	0.14008	.	0.764345	0.12037	N	0.505447	T	0.25158	0.0611	N	0.08118	0	0.26215	N	0.97925	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16660	-1.0395	10	0.59425	D	0.04	.	0.7001	0.00906	0.1821:0.3311:0.1433:0.3435	.	192;169	F8VS99;P35638	.;DDIT3_HUMAN	T	169;192;169;192	ENSP00000447188:A169T;ENSP00000448665:A192T;ENSP00000340671:A169T;ENSP00000447803:A192T	ENSP00000340671:A169T	A	-	1	0	DDIT3	56196864	0.215000	0.23574	0.996000	0.52242	0.263000	0.26337	0.088000	0.14979	0.158000	0.19367	-0.211000	0.12701	GCA		0.537	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083		3	118	0	0	0	0.184627	0	3	118				
TIAM1	7074	broad.mit.edu	37	21	32617956	32617956	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr21:32617956C>G	ENST00000286827.3	-	7	1903	c.1432G>C	c.(1432-1434)Gag>Cag	p.E478Q	TIAM1_ENST00000541036.1_Missense_Mutation_p.E478Q|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	478	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCGTCGCTCTCGTAGAAAAAT	0.527																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(1432-1434)Gag>Cag		T-cell lymphoma invasion and metastasis 1							67.0	58.0	61.0					21																	32617956		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32617956C>G		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1432G>C	21.37:g.32617956C>G	ENSP00000286827:p.Glu478Gln					TIAM1_ENST00000541036.1_Missense_Mutation_p.E478Q|TIAM1_ENST00000469412.1_5'UTR	p.E478Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			7	1903	-			478			PH 1.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1432G>C	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081575	0.94050	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.28895	1.59;1.59	5.22	5.22	0.72569	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.998;0.998	T	0.47045	-0.9147	10	0.66056	D	0.02	.	18.9723	0.92719	0.0:1.0:0.0:0.0	.	478;478;319;478	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	Q	478;319;478	ENSP00000286827:E478Q;ENSP00000441570:E478Q	ENSP00000286827:E478Q	E	-	1	0	TIAM1	31539827	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.628000	0.83189	2.717000	0.92951	0.650000	0.86243	GAG		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		10	41	0	0	0	0.361761	0	10	41				
CYCS	54205	broad.mit.edu	37	7	25163609	25163609	+	Missense_Mutation	SNP	C	C	A	rs11548807		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr7:25163609C>A	ENST00000305786.2	-	2	299	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S	CYCS_ENST00000409409.1_Missense_Mutation_p.A44S|CYCS_ENST00000409764.1_Missense_Mutation_p.A44S	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	44					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|dephosphorylation (GO:0016311)|intrinsic apoptotic signaling pathway (GO:0097193)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Minocycline(DB01017)	TATCCAGGGGCCTGACCTGTC	0.443																																						ENST00000305786.2																			0				endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4						c.(130-132)Gcc>Tcc		cytochrome c, somatic	Melatonin(DB01065)|Minocycline(DB01017)						63.0	66.0	65.0					7																	25163609		2203	4300	6503	SO:0001583	missense	0				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding	g.chr7:25163609C>A	M22877	CCDS5393.1	7p21.2	2014-09-17			ENSG00000172115	ENSG00000172115			19986	protein-coding gene	gene with protein product		123970				11790791	Standard	NM_018947		Approved	HCS, CYC	uc003sxl.3	P99999	OTTHUMG00000128495	ENST00000305786.2:c.130G>T	7.37:g.25163609C>A	ENSP00000307786:p.Ala44Ser					CYCS_ENST00000409409.1_Missense_Mutation_p.A44S|CYCS_ENST00000409764.1_Missense_Mutation_p.A44S	p.A44S	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN			2	299	-			44					A4D166|B2R4I1|P00001|Q6NUR2|Q6NX69|Q96BV4	Missense_Mutation	SNP	ENST00000305786.2	37	c.130G>T	CCDS5393.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116740	0.77323	.	.	ENSG00000172115	ENST00000305786;ENST00000409409;ENST00000409764;ENST00000413447	T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63	5.07	5.07	0.68467	Cytochrome c, class I (1);Cytochrome c domain (3);	0.137856	0.47455	U	0.000233	T	0.76835	0.4043	M	0.76574	2.34	0.58432	D	0.999999	B	0.09022	0.002	B	0.34242	0.178	T	0.75051	-0.3454	10	0.52906	T	0.07	.	18.8272	0.92123	0.0:1.0:0.0:0.0	.	44	P99999	CYC_HUMAN	S	44	ENSP00000307786:A44S;ENSP00000386270:A44S;ENSP00000387279:A44S;ENSP00000416479:A44S	ENSP00000307786:A44S	A	-	1	0	CYCS	25130134	1.000000	0.71417	0.991000	0.47740	0.910000	0.53928	3.819000	0.55686	2.493000	0.84123	0.650000	0.86243	GCC		0.443	CYCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250299.2			21	68	1	0	7.45023e-12	0.592651	9.71768e-12	21	68				
TENM1	10178	broad.mit.edu	37	X	123680892	123680892	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:123680892C>T	ENST00000371130.3	-	15	2546	c.2483G>A	c.(2482-2484)tGt>tAt	p.C828Y	TENM1_ENST00000422452.2_Missense_Mutation_p.C828Y	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	828					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ACTTATATAACAGTTGCTTTG	0.393																																						ENST00000422452.2																			0											c.(2482-2484)tGt>tAt		teneurin transmembrane protein 1							121.0	103.0	109.0					X																	123680892		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123680892C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2483G>A	X.37:g.123680892C>T	ENSP00000360171:p.Cys828Tyr					TENM1_ENST00000371130.3_Missense_Mutation_p.C828Y	p.C828Y	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					15	2546	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.2483G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130353	0.77549	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.16743	2.32;2.32	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	M	0.87617	2.895	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.87578	0.991;0.997;0.998	T	0.58070	-0.7701	10	0.87932	D	0	.	18.0242	0.89263	0.0:1.0:0.0:0.0	.	827;828;828	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Y	828	ENSP00000360171:C828Y;ENSP00000403954:C828Y	ENSP00000360171:C828Y	C	-	2	0	ODZ1	123508573	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.320000	0.79064	2.448000	0.82819	0.594000	0.82650	TGT		0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		38	68	0	0	0	0.834066	0	38	68				
PDE1B	5153	broad.mit.edu	37	12	54968886	54968886	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:54968886G>A	ENST00000243052.3	+	11	1505	c.1069G>A	c.(1069-1071)Gac>Aac	p.D357N	PDE1B_ENST00000538346.1_Missense_Mutation_p.D316N|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.D337N	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	357	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AACCAGGATTGACAAGCCCAA	0.537																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(1069-1071)Gac>Aac		phosphodiesterase 1B, calmodulin-dependent							120.0	109.0	112.0					12																	54968886		2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54968886G>A	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1069G>A	12.37:g.54968886G>A	ENSP00000243052:p.Asp357Asn					PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.D316N|PDE1B_ENST00000550620.1_Missense_Mutation_p.D337N	p.D357N	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			11	1505	+			357			Catalytic (By similarity).		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.1069G>A	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	G	32	5.111816	0.94339	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.81739	-1.53;-1.53;-1.53	5.25	5.25	0.73442	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.88070	0.6338	M	0.64404	1.975	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73708	0.967;0.981	D	0.88719	0.3228	10	0.66056	D	0.02	.	16.7112	0.85386	0.0:0.0:1.0:0.0	.	337;357	Q01064-2;Q01064	.;PDE1B_HUMAN	N	357;316;337	ENSP00000243052:D357N;ENSP00000442559:D316N;ENSP00000448519:D337N	ENSP00000243052:D357N	D	+	1	0	PDE1B	53255153	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	9.699000	0.98703	2.618000	0.88619	0.561000	0.74099	GAC		0.537	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			8	95	0	0	0	0.335167	0	8	95				
EPHA7	2045	broad.mit.edu	37	6	93964475	93964475	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:93964475T>C	ENST00000369303.4	-	14	2606	c.2422A>G	c.(2422-2424)Atc>Gtc	p.I808V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	808	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CGGTACTGGATGGCTTCGGGT	0.373																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2422-2424)Atc>Gtc		EPH receptor A7							126.0	108.0	114.0					6																	93964475		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93964475T>C	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2422A>G	6.37:g.93964475T>C	ENSP00000358309:p.Ile808Val						p.I808V	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	14	2606	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	808			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2422A>G	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604388	0.66445	.	.	ENSG00000135333	ENST00000369303	D	0.83837	-1.77	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.80834	0.4699	M	0.71871	2.18	0.80722	D	1	B;B;B	0.29232	0.238;0.2;0.238	B;B;B	0.38264	0.269;0.053;0.088	T	0.82922	-0.0217	10	0.72032	D	0.01	.	15.6344	0.76941	0.0:0.0:0.0:1.0	.	804;803;808	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	V	808	ENSP00000358309:I808V	ENSP00000358309:I808V	I	-	1	0	EPHA7	94021196	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.955000	0.87856	2.105000	0.64084	0.533000	0.62120	ATC		0.373	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			40	44	0	0	0	0.827153	0	40	44				
SNHG14	104472715	broad.mit.edu	37	15	25436445	25436445	+	RNA	SNP	T	T	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr15:25436445T>A	ENST00000424208.1	+	0	1040				SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA|SNORD115-11_ENST00000363616.1_RNA|SNHG14_ENST00000363358.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CAGCCCCTGGTGAGCTGAAGC	0.637																																						ENST00000424208.1																			0																																																			0							g.chr15:25436445T>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25436445T>A						SNHG14_ENST00000414175.1_RNA		NR_003305.1						0	1040	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.637	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			16	15	0	0	0	0.500413	0	16	15				
SLC26A7	115111	broad.mit.edu	37	8	92364065	92364065	+	Missense_Mutation	SNP	G	G	A	rs371678026		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr8:92364065G>A	ENST00000276609.3	+	10	1407	c.1168G>A	c.(1168-1170)Gtc>Atc	p.V390I	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.V390I|SLC26A7_ENST00000309536.2_Missense_Mutation_p.V390I	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTGCATTTTCGTCCTTATAGT	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		18097	0.0		0.0	False		,,,				2504	0.001					ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1168-1170)Gtc>Atc		solute carrier family 26 (anion exchanger), member 7		G	ILE/VAL,ILE/VAL	6,4400	11.4+/-27.6	0,6,2197	201.0	184.0	190.0		1168,1168	0.7	1.0	8		190	0,8600		0,0,4300	no	missense,missense	SLC26A7	NM_052832.2,NM_134266.1	29,29	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign,benign	390/657,390/664	92364065	6,13000	2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92364065G>A	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1168G>A	8.37:g.92364065G>A	ENSP00000276609:p.Val390Ile					SLC26A7_ENST00000309536.2_Missense_Mutation_p.V390I|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.V390I	p.V390I	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		10	1407	+			390						Missense_Mutation	SNP	ENST00000276609.3	37	c.1168G>A	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918400	0.33908	0.001362	0.0	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.95137	-3.62;-3.62;-3.62	5.55	0.725	0.18242	Sulphate transporter (1);	0.298295	0.27866	N	0.017531	D	0.87629	0.6225	N	0.25647	0.755	0.31044	N	0.71595	B;B	0.18863	0.027;0.031	B;B	0.17433	0.011;0.018	T	0.78147	-0.2317	10	0.22706	T	0.39	.	9.961	0.41697	0.3399:0.0:0.6601:0.0	.	390;390	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	I	390	ENSP00000428849:V390I;ENSP00000276609:V390I;ENSP00000309504:V390I	ENSP00000276609:V390I	V	+	1	0	SLC26A7	92433241	0.963000	0.33076	0.978000	0.43139	0.992000	0.81027	0.059000	0.14322	0.054000	0.16065	-0.194000	0.12790	GTC		0.353	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			5	249	0	0	0	0.217242	0	5	249				
MTA2	9219	broad.mit.edu	37	11	62363998	62363998	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr11:62363998A>G	ENST00000278823.2	-	10	1278	c.889T>C	c.(889-891)Tgg>Cgg	p.W297R	MTA2_ENST00000527204.1_Missense_Mutation_p.W124R|MTA2_ENST00000524902.1_Missense_Mutation_p.W124R	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	297	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGTGACTTCCAGGGTAGCTAA	0.542																																						ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(889-891)Tgg>Cgg		metastasis associated 1 family, member 2							69.0	71.0	70.0					11																	62363998		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62363998A>G	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.889T>C	11.37:g.62363998A>G	ENSP00000278823:p.Trp297Arg					MTA2_ENST00000524902.1_Missense_Mutation_p.W124R|MTA2_ENST00000527204.1_Missense_Mutation_p.W124R	p.W297R	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			10	1278	-			297			SANT.		Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.889T>C	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833957	0.71373	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.39229	1.09;1.09;1.09	5.83	5.83	0.93111	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.61322	-0.7086	10	0.62326	D	0.03	-15.5238	14.1534	0.65401	1.0:0.0:0.0:0.0	.	297	O94776	MTA2_HUMAN	R	297;124;124	ENSP00000278823:W297R;ENSP00000431346:W124R;ENSP00000431797:W124R	ENSP00000278823:W297R	W	-	1	0	MTA2	62120574	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.339000	0.96797	2.227000	0.72691	0.459000	0.35465	TGG		0.542	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		20	60	0	0	0	0.624587	0	20	60				
CUL9	23113	broad.mit.edu	37	6	43193850	43193850	+	IGR	SNP	C	C	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:43193850C>T	ENST00000252050.4	+	0	7780				DNPH1_ENST00000230431.6_Silent_p.L99L|DNPH1_ENST00000393987.2_Silent_p.L99L|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9						microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGCCTACACCCAAGGATGGCT	0.607																																						ENST00000393987.2																			0											c.(295-297)ttG>ttA		2'-deoxynucleoside 5'-phosphate N-hydrolase 1							34.0	27.0	30.0					6																	43193850		2190	4285	6475	SO:0001628	intergenic_variant	10591							g.chr6:43193850C>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723		6.37:g.43193850C>T						DNPH1_ENST00000230431.6_Silent_p.L99L	p.L99L	NM_199184.1	NP_954653.1					3	318	-								O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.297G>A	CCDS4890.1																																																																																				0.607	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		12	34	0	0	0	0.411799	0	12	34				
NEB	4703	broad.mit.edu	37	2	152409920	152409920	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr2:152409920G>A	ENST00000172853.10	-	99	14767	c.14620C>T	c.(14620-14622)Cgt>Tgt	p.R4874C	NEB_ENST00000409198.1_Missense_Mutation_p.R4874C|NEB_ENST00000604864.1_Missense_Mutation_p.R6575C|NEB_ENST00000427231.2_Missense_Mutation_p.R6575C|NEB_ENST00000603639.1_Missense_Mutation_p.R6575C|NEB_ENST00000397345.3_Missense_Mutation_p.R6575C			P20929	NEBU_HUMAN	nebulin	4874					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACATCATCACGTAGATCATAA	0.408																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(19723-19725)Cgt>Tgt		nebulin							152.0	144.0	147.0					2																	152409920		1977	4160	6137	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152409920G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.14620C>T	2.37:g.152409920G>A	ENSP00000172853:p.Arg4874Cys					NEB_ENST00000604864.1_Missense_Mutation_p.R6575C|NEB_ENST00000409198.1_Missense_Mutation_p.R4874C|NEB_ENST00000172853.10_Missense_Mutation_p.R4874C|NEB_ENST00000427231.2_Missense_Mutation_p.R6575C|NEB_ENST00000603639.1_Missense_Mutation_p.R6575C	p.R6575C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	127	19925	-			4874			Interaction with SVIL.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.19723C>T		.	.	.	.	.	.	.	.	.	.	G	28.5	4.926309	0.92319	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.67	5.67	0.87782	.	0.052588	0.85682	D	0.000000	T	0.45796	0.1360	N	0.22421	0.69	0.80722	D	1	D;P	0.55800	0.973;0.599	P;B	0.53185	0.72;0.101	T	0.40421	-0.9564	10	0.51188	T	0.08	.	19.7743	0.96385	0.0:0.0:1.0:0.0	.	4874;1305	P20929;Q14215	NEBU_HUMAN;.	C	4874;6575;6575;923;1305;4874	ENSP00000386259:R4874C;ENSP00000380505:R6575C;ENSP00000416578:R6575C;ENSP00000410961:R1305C;ENSP00000172853:R4874C	ENSP00000172853:R4874C	R	-	1	0	NEB	152118166	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	9.869000	0.99810	2.663000	0.90544	0.557000	0.71058	CGT		0.408	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		44	35	0	0	0	0.853193	0	44	35				
PHEX	5251	broad.mit.edu	37	X	22095667	22095667	+	Silent	SNP	T	T	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:22095667T>A	ENST00000379374.4	+	5	1075	c.510T>A	c.(508-510)ctT>ctA	p.L170L	PHEX_ENST00000535894.1_Silent_p.L73L|PHEX_ENST00000537599.1_Silent_p.L170L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	170					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGCCCGTGCTTGAATCTAATA	0.473																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(508-510)ctT>ctA		phosphate regulating endopeptidase homolog, X-linked							201.0	187.0	192.0					X																	22095667		2203	4300	6503	SO:0001819	synonymous_variant	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22095667T>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.510T>A	X.37:g.22095667T>A						PHEX_ENST00000535894.1_Silent_p.L73L|PHEX_ENST00000537599.1_Silent_p.L170L	p.L170L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			5	1075	+			170					O00678|Q13646|Q2M325|Q93032|Q99827	Silent	SNP	ENST00000379374.4	37	c.510T>A	CCDS14204.1																																																																																				0.473	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		140	246	0	0	0	0.870114	0	140	246				
MC1R	4157	broad.mit.edu	37	16	89986243	89986243	+	Missense_Mutation	SNP	G	G	A	rs527673999	byFrequency	TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr16:89986243G>A	ENST00000555147.1	+	1	1957	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	MC1R_ENST00000555427.1_Missense_Mutation_p.V193M|RP11-566K11.7_ENST00000570217.1_RNA|TUBB3_ENST00000556922.1_Missense_Mutation_p.V193M|RP11-566K11.4_ENST00000554623.1_RNA|TUBB3_ENST00000554444.1_5'Flank	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	193					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCTGTGCCTCGTGGTCTTCTT	0.672									Melanoma, Familial Clustering of				G|||	4	0.000798722	0.0	0.0	5008	,	,		18828	0.0		0.0	False		,,,				2504	0.0041					ENST00000555427.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(577-579)Gtg>Atg		melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)							41.0	43.0	42.0					16																	89986243		2171	4255	6426	SO:0001583	missense	4157	Melanoma, Familial Clustering of	Familial Cancer Database					g.chr16:89986243G>A		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.577G>A	16.37:g.89986243G>A	ENSP00000451605:p.Val193Met					TUBB3_ENST00000556922.1_Missense_Mutation_p.V193M|RP11-566K11.4_ENST00000554623.1_RNA|MC1R_ENST00000555147.1_Missense_Mutation_p.V193M	p.V193M						BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	2880	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)						Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Missense_Mutation	SNP	ENST00000555147.1	37	c.577G>A	CCDS56011.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.471649	0.26423	.	.	ENSG00000258947;ENSG00000258947;ENSG00000258839	ENST00000555427;ENST00000556922;ENST00000555147	T;T;T	0.73469	-0.75;-0.75;-0.75	4.57	-0.627	0.11541	GPCR, rhodopsin-like superfamily (1);	0.812469	0.09937	U	0.736375	T	0.80149	0.4570	M	0.93854	3.465	0.09310	N	1	P	0.47350	0.894	B	0.43809	0.432	T	0.72014	-0.4418	9	.	.	.	.	8.5068	0.33193	0.634:0.0:0.366:0.0	.	193	Q01726	MSHR_HUMAN	M	193	ENSP00000451760:V193M;ENSP00000451560:V193M;ENSP00000451605:V193M	.	V	+	1	0	MC1R;RP11-566K11.2	88513744	0.965000	0.33210	0.000000	0.03702	0.033000	0.12548	2.025000	0.41059	0.013000	0.14918	0.305000	0.20034	GTG		0.672	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		4	47	0	0	0	0.150653	0	4	47				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			36	46	0	0	0	0.840704	0	36	46				
AS3MT	57412	broad.mit.edu	37	10	104650300	104650300	+	Splice_Site	SNP	G	G	A			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr10:104650300G>A	ENST00000369880.3	+	10	962		c.e10-1		C10orf32-ASMT_ENST00000299353.6_Splice_Site	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase						arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CTACCCTTTAGGAAGGTGAAA	0.368																																						ENST00000299353.6																			0											c.e14-1									66.0	63.0	64.0					10																	104650300		1815	4073	5888	SO:0001630	splice_region_variant	0							g.chr10:104650300G>A	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.886-1G>A	10.37:g.104650300G>A						AS3MT_ENST00000369880.3_Splice_Site								14	1228	+								A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Splice_Site	SNP	ENST00000369880.3	37		CCDS41567.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435822	0.83885	.	.	ENSG00000214435	ENST00000369880	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7612	0.78082	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AS3MT	104640290	1.000000	0.71417	0.899000	0.35326	0.755000	0.42902	5.017000	0.64047	2.530000	0.85305	0.505000	0.49811	.		0.368	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682	Intron	3	91	0	0	0	0.150653	0	3	91				
MTOR	2475	broad.mit.edu	37	1	11184570	11184570	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:11184570A>G	ENST00000361445.4	-	47	6723	c.6647T>C	c.(6646-6648)cTt>cCt	p.L2216P	MTOR_ENST00000376838.1_Missense_Mutation_p.L421P	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2216	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	GTTTTTCCGAAGAGATGTTGG	0.443																																						ENST00000361445.4																			0				breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						c.(6646-6648)cTt>cCt		mechanistic target of rapamycin (serine/threonine kinase)							96.0	95.0	96.0					1																	11184570		2203	4300	6503	SO:0001583	missense	2475				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	g.chr1:11184570A>G	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6647T>C	1.37:g.11184570A>G	ENSP00000354558:p.Leu2216Pro					MTOR_ENST00000376838.1_Missense_Mutation_p.L421P	p.L2216P	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN			47	6723	-			2216			PI3K/PI4K.		Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	c.6647T>C	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.048310	0.75846	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.77877	-1.13;-1.13	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.74245	0.3691	L	0.28054	0.825	0.80722	D	1	P	0.42039	0.769	P	0.47346	0.544	T	0.77749	-0.2471	10	0.72032	D	0.01	-21.3461	14.7657	0.69637	1.0:0.0:0.0:0.0	.	2216	P42345	MTOR_HUMAN	P	2216;421	ENSP00000354558:L2216P;ENSP00000366034:L421P	ENSP00000354558:L2216P	L	-	2	0	MTOR	11107157	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	8.855000	0.92236	2.229000	0.72834	0.529000	0.55759	CTT		0.443	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958		32	6	0	0	0	0.796494	0	32	6				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		13	34	0	0	0	0.457914	0	13	34				
GPR124	25960	broad.mit.edu	37	8	37698790	37698790	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr8:37698790G>T	ENST00000412232.2	+	19	2947	c.2934G>T	c.(2932-2934)agG>agT	p.R978S	GPR124_ENST00000315215.7_Missense_Mutation_p.R761S	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	978					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTTCCACCAGGCTCAGGGGCA	0.706																																						ENST00000315215.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2281-2283)agG>agT		G protein-coupled receptor 124							24.0	29.0	27.0					8																	37698790		2202	4300	6502	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37698790G>T	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2934G>T	8.37:g.37698790G>T	ENSP00000406367:p.Arg978Ser					GPR124_ENST00000412232.2_Missense_Mutation_p.R978S	p.R761S			Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		16	2646	+			978					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2283G>T	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279311	0.23307	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.58940	0.3;0.43	4.96	4.08	0.47627	.	0.333921	0.34268	N	0.004115	T	0.45357	0.1338	L	0.50333	1.59	0.41562	D	0.988639	B;P	0.35328	0.264;0.495	B;B	0.30716	0.082;0.119	T	0.35724	-0.9777	10	0.29301	T	0.29	-29.1212	8.0411	0.30521	0.0854:0.1599:0.7547:0.0	.	761;978	Q96PE1-2;Q96PE1	.;GP124_HUMAN	S	971;761;978	ENSP00000323508:R761S;ENSP00000406367:R978S	ENSP00000323508:R761S	R	+	3	2	GPR124	37817948	1.000000	0.71417	0.998000	0.56505	0.715000	0.41141	0.727000	0.25999	1.079000	0.41038	0.655000	0.94253	AGG		0.706	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			6	4	1	0	0.0215528	0.217242	0.0248686	6	4				
GADL1	339896	broad.mit.edu	37	3	30885753	30885753	+	Silent	SNP	A	A	G			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr3:30885753A>G	ENST00000282538.5	-	8	885	c.735T>C	c.(733-735)ggT>ggC	p.G245G	GADL1_ENST00000454381.3_Silent_p.G245G	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	245					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						GTATCATTTTACCTCTAAGGG	0.433																																						ENST00000454381.3																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.(733-735)ggT>ggC		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						176.0	159.0	165.0					3																	30885753		2203	4300	6503	SO:0001819	synonymous_variant	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30885753A>G	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.735T>C	3.37:g.30885753A>G						GADL1_ENST00000282538.5_Silent_p.G245G	p.G245G			Q6ZQY3	GADL1_HUMAN			8	781	-			245						Silent	SNP	ENST00000282538.5	37	c.735T>C	CCDS2649.2																																																																																				0.433	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		79	106	0	0	0	0.870114	0	79	106				
LOC101928372	101928372	broad.mit.edu	37	1	160905975	160905975	+	lincRNA	DEL	T	T	-	rs368373384	byFrequency	TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:160905975delT	ENST00000427339.1	-	0	0				RP11-544M22.1_ENST00000356006.3_RNA																							cttcttcttcttttttttttt	0.393													|||unknown(HR)	181	0.0361422	0.1278	0.0144	5008	,	,		16599	0.0		0.001	False		,,,				2504	0.001					ENST00000356006.3																			0																																																			0							g.chr1:160905975delT																													1.37:g.160905975delT														0	629	+									RNA	DEL	ENST00000427339.1	37																																																																																						0.393	RP11-312J18.6-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000071456.1			2	4						2	4	---	---	---	---
LOC400800	400800	broad.mit.edu	37	1	199130158	199130158	+	lincRNA	DEL	A	A	-	rs201028700|rs199744059		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:199130158delA	ENST00000452199.1	+	0	140																											ggaaggaaggaaggaaggaag	0.468																																						ENST00000452199.1																			0																																																			0							g.chr1:199130158delA																													1.37:g.199130158delA														0	140	+									RNA	DEL	ENST00000452199.1	37																																																																																						0.468	RP11-382E9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000087440.1			2	4						2	4	---	---	---	---
FLJ16171	441116	broad.mit.edu	37	5	174357183	174357184	+	lincRNA	INS	-	-	T	rs201580967		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr5:174357183_174357184insT	ENST00000377300.3	-	0	1281					NR_046113.1																						ttccttccttcttttttttgat	0.485																																						ENST00000377300.3																			0																																																			0							g.chr5:174357183_174357184insT																													5.37:g.174357191_174357191dupT								NR_046113.1						0	1281	-									RNA	INS	ENST00000377300.3	37																																																																																						0.485	CTC-281M20.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000371773.1			5	4						5	4	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76788415	76788415	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr10:76788415delA	ENST00000287239.4	+	18	4322	c.3833delA	c.(3832-3834)gaafs	p.E1278fs	KAT6B_ENST00000372711.1_Frame_Shift_Del_p.E1095fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.E986fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.E986fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.E986fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1278					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ACCCCGCCAGAAACACCCATG	0.493																																						ENST00000287239.4																			0											c.(3832-3834)gafs		K(lysine) acetyltransferase 6B							81.0	78.0	79.0					10																	76788415		2203	4300	6503	SO:0001589	frameshift_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76788415delA	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3833delA	10.37:g.76788415delA	ENSP00000287239:p.Glu1278fs					KAT6B_ENST00000372724.1_Frame_Shift_Del_p.E986fs|KAT6B_ENST00000372714.1_Frame_Shift_Del_p.E986fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.E986fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.E1095fs	p.E1278fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN			18	4322	+			1278					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Del	DEL	ENST00000287239.4	37	c.3833delA	CCDS7345.1																																																																																				0.493	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		31	71						31	71	---	---	---	---
NOS2P1	645740	broad.mit.edu	37	17	25988721	25988728	+	lincRNA	DEL	CCAGTCCT	CCAGTCCT	-	rs201021938|rs56024706|rs74398181|rs55953003		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr17:25988721_25988728delCCAGTCCT	ENST00000583179.1	-	0	1956_1963																											ACCAGGTGAGCCAGTCCTACCGATGGCA	0.481																																						ENST00000583179.1																			0																																																			0							g.chr17:25988721_25988728delCCAGTCCT																													17.37:g.25988721_25988728delCCAGTCCT														0	1956_1963	-									RNA	DEL	ENST00000583179.1	37																																																																																						0.481	RP11-19P22.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000445273.1			5	3						5	3	---	---	---	---
SOX9-AS1	400618	broad.mit.edu	37	17	70082144	70082145	+	RNA	INS	-	-	TG	rs200887946|rs142018104|rs55732820|rs60227131|rs372250880		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr17:70082144_70082145insTG	ENST00000434703.1	-	0	358				AC007461.2_ENST00000419257.1_lincRNA	NR_103738.1																						acatatgtatctgtgtgtgtgt	0.361																																						ENST00000434703.1																			0																																																			0							g.chr17:70082144_70082145insTG																													17.37:g.70082153_70082154dupTG						AC007461.2_ENST00000419257.1_lincRNA		NR_103738.1						0	358	-									RNA	INS	ENST00000434703.1	37																																																																																						0.361	AC005152.2-002	KNOWN	basic|exp_conf	lincRNA	processed_transcript	OTTHUMT00000255302.1			4	6						4	6	---	---	---	---
