#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
APOB	338	broad.mit.edu	37	2	21225141	21225141	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:21225141G>A	ENST00000233242.1	-	29	13280	c.13153C>T	c.(13153-13155)Cgt>Tgt	p.R4385C	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4385					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATTCTTCACGAAGGGCCATA	0.363																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(13153-13155)Cgt>Tgt		apolipoprotein B	Atorvastatin(DB01076)						55.0	58.0	57.0					2																	21225141		2202	4300	6502	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21225141G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.13153C>T	2.37:g.21225141G>A	ENSP00000233242:p.Arg4385Cys						p.R4385C	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			29	13280	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		4385					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.13153C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589078	0.66105	.	.	ENSG00000084674	ENST00000233242	T	0.38722	1.12	5.9	3.11	0.35812	.	0.474036	0.19658	N	0.109046	T	0.35913	0.0948	L	0.52573	1.65	0.80722	D	1	B	0.26041	0.14	B	0.16289	0.015	T	0.27971	-1.0058	10	0.87932	D	0	.	11.2816	0.49197	0.1991:0.0:0.8009:0.0	.	4385	P04114	APOB_HUMAN	C	4385	ENSP00000233242:R4385C	ENSP00000233242:R4385C	R	-	1	0	APOB	21078646	0.524000	0.26282	0.062000	0.19696	0.667000	0.39255	0.627000	0.24506	0.829000	0.34733	0.591000	0.81541	CGT		0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			24	42	0	0	0	1	0	24	42				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	62	0	0	0	1	0	3	62				
DSG4	147409	broad.mit.edu	37	18	28993042	28993042	+	Silent	SNP	T	T	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr18:28993042T>A	ENST00000308128.4	+	16	2742	c.2607T>A	c.(2605-2607)ccT>ccA	p.P869P	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Silent_p.P888P	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	869					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGACCTCCCTTTGCTCGGAC	0.418																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2662-2664)ccT>ccA		desmoglein 4							147.0	137.0	140.0					18																	28993042		2203	4300	6503	SO:0001819	synonymous_variant	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28993042T>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2607T>A	18.37:g.28993042T>A						RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.P869P|RP11-534N16.1_ENST00000578477.1_RNA	p.P888P	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2693	+			869					A2RUI1|Q6Y9L9|Q8IXV4	Silent	SNP	ENST00000308128.4	37	c.2664T>A	CCDS11897.1																																																																																				0.418	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		71	100	0	0	0	1	0	71	100				
ZAP70	7535	broad.mit.edu	37	2	98354121	98354121	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:98354121A>G	ENST00000264972.5	+	11	1690	c.1475A>G	c.(1474-1476)tAc>tGc	p.Y492C	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.Y366C|ZAP70_ENST00000451498.2_Missense_Mutation_p.Y185C	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	492	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GACGACAGCTACTACACTGTA	0.637																																						ENST00000264972.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						c.(1474-1476)tAc>tGc		zeta-chain (TCR) associated protein kinase 70kDa							51.0	49.0	50.0					2																	98354121		2203	4300	6503	SO:0001583	missense	7535				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr2:98354121A>G	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.1475A>G	2.37:g.98354121A>G	ENSP00000264972:p.Tyr492Cys					ZAP70_ENST00000442208.1_Missense_Mutation_p.Y366C|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.Y185C	p.Y492C	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN			11	1690	+			492			Protein kinase.		A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	ENST00000264972.5	37	c.1475A>G	CCDS33254.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.569133	0.45798	.	.	ENSG00000115085	ENST00000264972;ENST00000442208;ENST00000451498	D;D;D	0.83673	-1.75;-1.75;-1.75	5.2	5.2	0.72013	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45606	D	0.000344	D	0.90466	0.7014	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91609	0.5301	10	0.87932	D	0	.	13.3309	0.60485	1.0:0.0:0.0:0.0	.	366;492	P43403-3;P43403	.;ZAP70_HUMAN	C	492;366;185	ENSP00000264972:Y492C;ENSP00000411141:Y366C;ENSP00000400475:Y185C	ENSP00000264972:Y492C	Y	+	2	0	ZAP70	97720553	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	9.332000	0.96446	2.109000	0.64355	0.533000	0.62120	TAC		0.637	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329278.1			30	46	0	0	0	1	0	30	46				
DAGLA	747	broad.mit.edu	37	11	61504678	61504678	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr11:61504678C>G	ENST00000257215.5	+	14	1512	c.1396C>G	c.(1396-1398)Ctg>Gtg	p.L466V		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	466					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACACTACGGCCTGATTGTGGT	0.637																																						ENST00000257215.5																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(1396-1398)Ctg>Gtg		diacylglycerol lipase, alpha							127.0	132.0	130.0					11																	61504678		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61504678C>G	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1396C>G	11.37:g.61504678C>G	ENSP00000257215:p.Leu466Val						p.L466V	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	14	1512	+			466					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.1396C>G	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428419	0.83667	.	.	ENSG00000134780	ENST00000257215	T	0.45668	0.89	3.91	3.91	0.45181	.	0.000000	0.64402	D	0.000005	T	0.60945	0.2308	M	0.62266	1.93	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.63386	-0.6649	10	0.44086	T	0.13	-13.9632	16.2789	0.82658	0.0:1.0:0.0:0.0	.	466	Q9Y4D2	DGLA_HUMAN	V	466	ENSP00000257215:L466V	ENSP00000257215:L466V	L	+	1	2	DAGLA	61261254	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.614000	0.61183	1.901000	0.55032	0.313000	0.20887	CTG		0.637	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	NM_006133		135	177	0	0	0	1	0	135	177				
KRT15	3866	broad.mit.edu	37	17	39673389	39673389	+	Missense_Mutation	SNP	C	C	T	rs200359694		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:39673389C>T	ENST00000254043.3	-	2	4112	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	KRT15_ENST00000393981.3_Intron|KRT15_ENST00000393974.3_Intron|KRT15_ENST00000393976.2_Missense_Mutation_p.R176Q	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	176	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGGATGACCCGGGAGTTGTC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		18916	0.001		0.0	False		,,,				2504	0.0					ENST00000254043.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(526-528)cGg>cAg		keratin 15							161.0	149.0	154.0					17																	39673389		2203	4300	6503	SO:0001583	missense	3866				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39673389C>T		CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.527G>A	17.37:g.39673389C>T	ENSP00000254043:p.Arg176Gln					KRT15_ENST00000393981.3_Intron|KRT15_ENST00000393974.3_Intron|KRT15_ENST00000393976.2_Missense_Mutation_p.R176Q	p.R176Q	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN			2	4112	-		Breast(137;0.000286)	176			Coil 1B.|Rod.		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	c.527G>A	CCDS11398.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.35	2.210216	0.39003	.	.	ENSG00000171346	ENST00000254043;ENST00000393976	D;D	0.89810	-2.57;-2.57	4.86	2.82	0.32997	Filament (1);	0.000000	0.45126	D	0.000386	T	0.80215	0.4582	L	0.33293	1	0.09310	N	0.999998	B	0.23249	0.082	B	0.22753	0.041	T	0.68599	-0.5366	10	0.42905	T	0.14	.	5.8441	0.18652	0.0:0.6297:0.1407:0.2296	.	176	P19012	K1C15_HUMAN	Q	176	ENSP00000254043:R176Q;ENSP00000377546:R176Q	ENSP00000254043:R176Q	R	-	2	0	KRT15	36926915	0.000000	0.05858	0.973000	0.42090	0.882000	0.50991	-0.877000	0.04197	1.276000	0.44395	0.655000	0.94253	CGG		0.597	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		60	113	0	0	0	1	0	60	113				
GOLGA6L3	100133220	broad.mit.edu	37	15	83014132	83014132	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr15:83014132C>G	ENST00000557886.1	-	6	550	c.451G>C	c.(451-453)Gag>Cag	p.E151Q															p.E151Q(4)		endometrium(6)|kidney(5)|prostate(1)	12						GCTGGGGGCTCTGGGGCCAGG	0.522																																						ENST00000557886.1																			4	Substitution - Missense(4)	p.E151Q(4)	kidney(4)	endometrium(6)|kidney(5)|prostate(1)	12						c.(451-453)Gag>Cag																																						SO:0001583	missense	0							g.chr15:83014132C>G																												ENST00000557886.1:c.451G>C	15.37:g.83014132C>G	ENSP00000452844:p.Glu151Gln						p.E151Q							6	550	-									Missense_Mutation	SNP	ENST00000557886.1	37	c.451G>C																																																																																					0.522	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1			3	15	0	0	0	1	0	3	15				
OR4C13	283092	broad.mit.edu	37	11	49974106	49974106	+	Silent	SNP	G	G	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr11:49974106G>T	ENST00000555099.1	+	1	164	c.132G>T	c.(130-132)gtG>gtT	p.V44V		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCTCATTGTGGTCACCATCA	0.428																																						ENST00000555099.1																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						c.(130-132)gtG>gtT		olfactory receptor, family 4, subfamily C, member 13							247.0	225.0	233.0					11																	49974106		2201	4296	6497	SO:0001819	synonymous_variant	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974106G>T	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.132G>T	11.37:g.49974106G>T							p.V44V	NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN			1	164	+			44					A6NJJ3|B9EH30|Q6IF48|Q96R68	Silent	SNP	ENST00000555099.1	37	c.132G>T	CCDS31495.1																																																																																				0.428	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		120	155	1	0	8.41509e-73	1	9.31031e-73	120	155				
LGALS2	3957	broad.mit.edu	37	22	37966744	37966744	+	Splice_Site	SNP	T	T	C			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr22:37966744T>C	ENST00000215886.4	-	3	264		c.e3-2			NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2								carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					ATTACAAAGCTGCAGGAGAAG	0.527																																					GBM(193;1840 2185 13711 20676 24505)	ENST00000215886.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11						c.e3-2		lectin, galactoside-binding, soluble, 2							62.0	60.0	61.0					22																	37966744		2203	4300	6503	SO:0001630	splice_region_variant	3957							g.chr22:37966744T>C		CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"""Lectins, galactoside-binding"""	6562	protein-coding gene	gene with protein product	"""galectin 2"""	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.90-2A>G	22.37:g.37966744T>C								NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN			3	264	-	Melanoma(58;0.0574)							Q6FGY4	Splice_Site	SNP	ENST00000215886.4	37		CCDS13950.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067227	0.55539	.	.	ENSG00000100079	ENST00000215886	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.81	0.78552	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LGALS2	36296690	1.000000	0.71417	0.298000	0.25002	0.097000	0.18754	5.908000	0.69916	2.326000	0.78906	0.533000	0.62120	.		0.527	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318991.1	NM_006498	Intron	45	59	0	0	0	1	0	45	59				
NT5C	30833	broad.mit.edu	37	17	73127345	73127345	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:73127345C>T	ENST00000245552.2	-	2	293	c.206G>A	c.(205-207)gGc>gAc	p.G69D	NT5C_ENST00000582160.1_5'UTR|NT5C_ENST00000578337.1_5'UTR|NT5C_ENST00000579082.1_5'UTR|NT5C_ENST00000582170.1_Missense_Mutation_p.G69D	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	69					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine deoxyribonucleotide catabolic process (GO:0009223)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotidase activity (GO:0008252)|pyrimidine nucleotide binding (GO:0019103)					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Lamivudine(DB00709)	CAGGAAAAAGCCCGGGGCTTC	0.652																																						ENST00000245552.2																			0											c.(205-207)gGc>gAc		5', 3'-nucleotidase, cytosolic							37.0	44.0	42.0					17																	73127345		2203	4300	6503	SO:0001583	missense	30833				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding	g.chr17:73127345C>T	AF154829	CCDS11715.1	17q25	2011-03-29	2002-05-23		ENSG00000125458	ENSG00000125458	3.1.3.5		17144	protein-coding gene	gene with protein product		191720	"""5' nucleotidase, deoxy (pyrimidine), cytosolic type C"", ""uridine 5-prime monophosphate hydrolase 2"""	UMPH2		10899995	Standard	NM_014595		Approved	DNT1, DNT-1, PN-I, cdN, dNT-1	uc002jmx.3	Q8TCD5		ENST00000245552.2:c.206G>A	17.37:g.73127345C>T	ENSP00000245552:p.Gly69Asp					NT5C_ENST00000578337.1_5'UTR|NT5C_ENST00000582160.1_5'UTR|NT5C_ENST00000579082.1_5'UTR|NT5C_ENST00000582170.1_Missense_Mutation_p.G69D	p.G69D	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		2	293	-	all_lung(278;0.14)|Lung NSC(278;0.168)		69					Q96HS6|Q9NP82	Missense_Mutation	SNP	ENST00000245552.2	37	c.206G>A	CCDS11715.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248742	0.39797	.	.	ENSG00000125458	ENST00000245552	T	0.43294	0.95	4.26	4.26	0.50523	HAD-like domain (2);	0.539186	0.19817	N	0.105420	T	0.47820	0.1466	L	0.61218	1.895	0.80722	D	1	P	0.48640	0.913	P	0.47044	0.535	T	0.51553	-0.8691	10	0.51188	T	0.08	-19.1759	14.0331	0.64629	0.0:1.0:0.0:0.0	.	69	Q8TCD5	NT5C_HUMAN	D	69	ENSP00000245552:G69D	ENSP00000245552:G69D	G	-	2	0	NT5C	70638940	1.000000	0.71417	0.948000	0.38648	0.649000	0.38597	2.155000	0.42301	2.379000	0.81126	0.484000	0.47621	GGC		0.652	NT5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445853.1			49	63	0	0	0	1	0	49	63				
PCED1B	91523	broad.mit.edu	37	12	47471391	47471391	+	5'Flank	SNP	T	T	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr12:47471391T>A	ENST00000546455.1	+	0	0				AMIGO2_ENST00000429635.1_Missense_Mutation_p.R465S|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R465S|AMIGO2_ENST00000266581.4_Missense_Mutation_p.R465S|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R465S			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										AAAACACCACTCTTTTACCTG	0.522																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1393-1395)agA>agT		adhesion molecule with Ig-like domain 2							122.0	113.0	116.0					12																	47471391		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47471391T>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47471391T>A	Exception_encountered					AMIGO2_ENST00000550413.1_Missense_Mutation_p.R465S|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R465S|AMIGO2_ENST00000429635.1_Missense_Mutation_p.R465S	p.R465S	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	1861	-	Renal(347;0.138)|Lung SC(27;0.192)		465					Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.1395A>T	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.692080	0.68271	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.08	0.0749	0.14397	.	0.078201	0.64402	D	0.000014	T	0.52533	0.1740	M	0.62723	1.935	0.48341	D	0.999638	D	0.57257	0.979	P	0.54270	0.747	T	0.50541	-0.8816	10	0.42905	T	0.14	-13.9742	10.6	0.45360	0.0:0.4567:0.0:0.5433	.	465	Q86SJ2	AMGO2_HUMAN	S	465	ENSP00000266581:R465S;ENSP00000449034:R465S;ENSP00000406020:R465S;ENSP00000320848:R465S	ENSP00000266581:R465S	R	-	3	2	AMIGO2	45757658	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	0.411000	0.21115	-0.074000	0.12820	0.454000	0.30748	AGA		0.522	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		28	7	0	0	0	1	0	28	7				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	125	0	0	0	1	0	7	125				
PCM1	5108	broad.mit.edu	37	8	17829972	17829972	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:17829972G>A	ENST00000519253.1	+	23	3970	c.3719G>A	c.(3718-3720)cGc>cAc	p.R1240H	PCM1_ENST00000325083.8_Missense_Mutation_p.R1240H|PCM1_ENST00000327578.8_5'Flank|PCM1_ENST00000524226.1_Missense_Mutation_p.R1241H			Q15154	PCM1_HUMAN	pericentriolar material 1	1240					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTAGTAACCGCAAAAATCAA	0.383			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																	ENST00000325083.8				Dom	yes		8	8p22-p21.3	5108	T	pericentriolar material 1  (PTC4)			"""E, L"""	"""RET, JAK2"""		"""papillary thyroid, CML, MPD"""	PCM1/JAK2(30)	0				breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48						c.(3718-3720)cGc>cAc		pericentriolar material 1							91.0	86.0	87.0					8																	17829972		1848	4087	5935	SO:0001583	missense	5108				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	g.chr8:17829972G>A		CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.3719G>A	8.37:g.17829972G>A	ENSP00000431099:p.Arg1240His					PCM1_ENST00000524226.1_Missense_Mutation_p.R1241H|PCM1_ENST00000519253.1_Missense_Mutation_p.R1240H	p.R1240H	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN		Colorectal(111;0.0789)	23	4158	+			1240					Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	ENST00000519253.1	37	c.3719G>A		.	.	.	.	.	.	.	.	.	.	G	1.036	-0.680456	0.03353	.	.	ENSG00000078674	ENST00000325083;ENST00000519253;ENST00000524226	T;T;T	0.50277	0.75;0.75;0.75	4.97	3.19	0.36642	.	0.364612	0.32416	N	0.006134	T	0.15435	0.0372	N	0.00926	-1.1	0.80722	D	1	B;B;B;B	0.13145	0.0;0.007;0.0;0.007	B;B;B;B	0.06405	0.001;0.002;0.001;0.002	T	0.03034	-1.1080	10	0.27082	T	0.32	-1.6817	4.7527	0.13068	0.3013:0.1584:0.5402:0.0	.	102;1240;1241;1240	B4DJ00;E7ETA6;E7EV56;Q15154	.;.;.;PCM1_HUMAN	H	1240;1240;1241	ENSP00000327077:R1240H;ENSP00000431099:R1240H;ENSP00000430521:R1241H	ENSP00000327077:R1240H	R	+	2	0	PCM1	17874252	0.837000	0.29446	1.000000	0.80357	0.087000	0.18053	0.636000	0.24644	0.776000	0.33473	-0.424000	0.05967	CGC		0.383	PCM1-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374800.1	NM_006197		3	52	0	0	0	1	0	3	52				
SLFN12	55106	broad.mit.edu	37	17	33738559	33738559	+	Nonsense_Mutation	SNP	A	A	C			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:33738559A>C	ENST00000394562.1	-	6	2058	c.1535T>G	c.(1534-1536)tTa>tGa	p.L512*	SLFN12_ENST00000452764.3_Nonsense_Mutation_p.L512*|RP11-686D22.8_ENST00000587012.1_RNA|SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000304905.5_Nonsense_Mutation_p.L512*			Q8IYM2	SLN12_HUMAN	schlafen family member 12	512							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGCGACCTTAAATCATACTG	0.393																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1534-1536)tTa>tGa		schlafen family member 12							77.0	77.0	77.0					17																	33738559		2203	4300	6503	SO:0001587	stop_gained	55106						ATP binding	g.chr17:33738559A>C	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.1535T>G	17.37:g.33738559A>C	ENSP00000378063:p.Leu512*					SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Nonsense_Mutation_p.L512*|SLFN12_ENST00000304905.5_Nonsense_Mutation_p.L512*	p.L512*			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2058	-		Ovarian(249;0.17)	512					A8K711|Q9NP47	Nonsense_Mutation	SNP	ENST00000394562.1	37	c.1535T>G	CCDS11295.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694445	0.88830	.	.	ENSG00000172123	ENST00000394562;ENST00000304905;ENST00000452764	.	.	.	2.49	0.443	0.16587	.	.	.	.	.	.	.	.	.	.	.	0.52501	D	0.999951	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	4.4788	0.11757	0.3402:0.0:0.6598:0.0	.	.	.	.	X	512	.	ENSP00000302077:L512X	L	-	2	0	SLFN12	30762672	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.324000	0.19610	0.142000	0.18901	-0.437000	0.05841	TTA		0.393	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		4	92	0	0	0	1	0	4	92				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				4	10	0	0	0	1	0	4	10				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			30	48	0	0	0	1	0	30	48				
RPE65	6121	broad.mit.edu	37	1	68904625	68904625	+	Splice_Site	SNP	C	C	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:68904625C>A	ENST00000262340.5	-	9	1051	c.998G>T	c.(997-999)gGa>gTa	p.G333V		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	333			G -> R (found in a patient with LCA2). {ECO:0000269|PubMed:21602930}.		cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CCTTTCTTACCCTTTCCAGCA	0.423																																						ENST00000262340.5																			0				central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.e9+1		retinal pigment epithelium-specific protein 65kDa							288.0	284.0	285.0					1																	68904625		2203	4300	6503	SO:0001630	splice_region_variant	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68904625C>A	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.998+1G>T	1.37:g.68904625C>A							p.G333_splice	NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN			9	1051	-			333					A8K1L0|Q5T9U3	Splice_Site	SNP	ENST00000262340.5	37	c.998_splice	CCDS643.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148405	0.78001	.	.	ENSG00000116745	ENST00000262340	D	0.94862	-3.54	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.96793	0.8953	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96597	0.9442	9	.	.	.	-15.0891	18.0218	0.89257	0.0:1.0:0.0:0.0	.	333	Q16518	RPE65_HUMAN	V	333	ENSP00000262340:G333V	.	G	-	2	0	RPE65	68677213	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.487000	0.81328	2.256000	0.74724	0.650000	0.86243	GGA		0.423	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	Missense_Mutation	124	190	1	0	6.74356e-53	1	7.30552e-53	124	190				
PLCB2	5330	broad.mit.edu	37	15	40584082	40584082	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr15:40584082C>T	ENST00000260402.3	-	24	2819	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	PLCB2_ENST00000557821.1_Missense_Mutation_p.G853E|PLCB2_ENST00000456256.2_Missense_Mutation_p.G857E	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	857					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCCAACGCCCCATTGACCTG	0.622																																						ENST00000260402.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39						c.(2569-2571)gGg>gAg		phospholipase C, beta 2							64.0	75.0	72.0					15																	40584082		2042	4193	6235	SO:0001583	missense	5330				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr15:40584082C>T		CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.2570G>A	15.37:g.40584082C>T	ENSP00000260402:p.Gly857Glu					PLCB2_ENST00000456256.2_Missense_Mutation_p.G857E|PLCB2_ENST00000557821.1_Missense_Mutation_p.G853E	p.G857E	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)	24	2819	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	857					A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	c.2570G>A	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619318	0.46736	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.20738	2.05;2.05	4.71	1.7	0.24286	.	411.541000	0.00166	N	0.000000	T	0.28101	0.0693	L	0.31926	0.97	0.23113	N	0.998278	D;B;B	0.76494	0.999;0.002;0.0	D;B;B	0.66084	0.941;0.007;0.001	T	0.49735	-0.8908	10	0.02654	T	1	.	4.9786	0.14153	0.0:0.6332:0.1732:0.1936	.	857;853;857	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	E	857	ENSP00000260402:G857E;ENSP00000411991:G857E	ENSP00000260402:G857E	G	-	2	0	PLCB2	38371374	0.004000	0.15560	0.030000	0.17652	0.009000	0.06853	0.053000	0.14184	0.274000	0.22072	-0.424000	0.05967	GGG		0.622	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			22	12	0	0	0	1	0	22	12				
TP53	7157	broad.mit.edu	37	17	7578280	7578280	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:7578280G>C	ENST00000269305.4	-	6	758	c.569C>G	c.(568-570)cCt>cGt	p.P190R	TP53_ENST00000445888.2_Missense_Mutation_p.P190R|TP53_ENST00000413465.2_Missense_Mutation_p.P190R|TP53_ENST00000359597.4_Missense_Mutation_p.P190R|TP53_ENST00000420246.2_Missense_Mutation_p.P190R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P190R	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	190	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		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.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(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)	ATGCTGAGGAGGGGCCAGACC	0.552		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)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		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"""		67	Substitution - Missense(27)|Deletion - In frame(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(6)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	p.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(1)	large_intestine(11)|upper_aerodigestive_tract(9)|skin(8)|haematopoietic_and_lymphoid_tissue(6)|breast(6)|biliary_tract(5)|bone(5)|central_nervous_system(4)|oesophagus(4)|stomach(2)|liver(2)|ovary(2)|kidney(1)|salivary_gland(1)|prostate(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						c.(568-570)cCt>cGt	Other conserved DNA damage response genes	tumor protein p53							89.0	80.0	83.0					17																	7578280		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.chr17:7578280G>C	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.569C>G	17.37:g.7578280G>C	ENSP00000269305:p.Pro190Arg	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_ENST00000445888.2_Missense_Mutation_p.P190R|TP53_ENST00000413465.2_Missense_Mutation_p.P190R|TP53_ENST00000455263.2_Missense_Mutation_p.P190R|TP53_ENST00000269305.4_Missense_Mutation_p.P190R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P190R	p.P190R	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)	6	701	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	190		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.569C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145497	0.37825	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	5.41	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110931	0.64402	D	0.000010	D	0.99622	0.9862	M	0.68728	2.09	0.51767	D	0.999937	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.988;1.0;0.999;1.0;1.0	D;D;P;D;D;D;D	0.91635	0.999;0.971;0.877;0.996;0.989;0.997;0.999	D	0.97802	1.0245	10	0.87932	D	0	-9.8058	12.4639	0.55747	0.0821:0.0:0.9179:0.0	.	151;190;190;97;190;190;190	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	190;190;190;190;190;190;179;97;58;97;58	ENSP00000410739:P190R;ENSP00000352610:P190R;ENSP00000269305:P190R;ENSP00000398846:P190R;ENSP00000391127:P190R;ENSP00000391478:P190R;ENSP00000425104:P58R;ENSP00000423862:P97R	ENSP00000269305:P190R	P	-	2	0	TP53	7519005	1.000000	0.71417	0.956000	0.39512	0.034000	0.12701	7.957000	0.87870	1.422000	0.47177	0.655000	0.94253	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		57	10	0	0	0	1	0	57	10				
GPR78	27201	broad.mit.edu	37	4	8583134	8583134	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr4:8583134T>G	ENST00000382487.4	+	1	842	c.425T>G	c.(424-426)cTt>cGt	p.L142R	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	142					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L142H(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GGCGCTGCACTTGGCTGCTCG	0.711																																						ENST00000382487.4																			1	Substitution - Missense(1)	p.L142H(1)	kidney(1)	central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(424-426)cTt>cGt		G protein-coupled receptor 78							10.0	12.0	11.0					4																	8583134		2171	4254	6425	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8583134T>G	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.425T>G	4.37:g.8583134T>G	ENSP00000371927:p.Leu142Arg					GPR78_ENST00000509216.1_Intron	p.L142R	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN			1	842	+			142					Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.425T>G	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.455121	0.26161	.	.	ENSG00000155269	ENST00000382487	T	0.44881	0.91	2.53	1.21	0.21127	GPCR, rhodopsin-like superfamily (1);	0.457587	0.17015	U	0.190338	T	0.51312	0.1667	L	0.52905	1.665	0.09310	N	1	D	0.76494	0.999	D	0.76071	0.987	T	0.38329	-0.9666	10	0.87932	D	0	.	3.8196	0.08830	0.2165:0.0:0.2231:0.5603	.	142	Q96P69	GPR78_HUMAN	R	142	ENSP00000371927:L142R	ENSP00000371927:L142R	L	+	2	0	GPR78	8634034	0.056000	0.20664	0.000000	0.03702	0.004000	0.04260	2.368000	0.44222	-0.067000	0.12976	0.260000	0.18958	CTT		0.711	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			13	20	0	0	0	1	0	13	20				
MUC3A	4584	broad.mit.edu	37	7	100552563	100552563	+	Silent	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:100552563C>T	ENST00000319509.7	+	1	1314	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2103	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CTCTTCCTGGCGTCTCTACCA	0.557																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(1312-1314)ggC>ggT		mucin 3A, cell surface associated							276.0	263.0	267.0					7																	100552563		876	1991	2867	SO:0001819	synonymous_variant	4584							g.chr7:100552563C>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1314C>T	7.37:g.100552563C>T							p.G438G							1	1314	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Silent	SNP	ENST00000319509.7	37	c.1314C>T																																																																																					0.557	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		19	253	0	0	0	1	0	19	253				
MPZ	4359	broad.mit.edu	37	1	161275672	161275672	+	Silent	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:161275672C>T	ENST00000533357.1	-	6	807	c.741G>A	c.(739-741)aaG>aaA	p.K247K	MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000360451.6_Silent_p.K257K|MPZ_ENST00000491222.2_Silent_p.K51K|MPZ_ENST00000336559.4_Missense_Mutation_p.R247K	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	247					cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCGCTATTTCTTATCCTTGC	0.592																																						ENST00000336559.4																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(739-741)aGa>aAa		myelin protein zero							56.0	56.0	56.0					1																	161275672		2203	4300	6503	SO:0001819	synonymous_variant	4359				synaptic transmission	integral to plasma membrane	structural molecule activity	g.chr1:161275672C>T	BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.741G>A	1.37:g.161275672C>T						MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000360451.6_Silent_p.K257K|MPZ_ENST00000533357.1_Silent_p.K247K|MPZ_ENST00000491222.2_Silent_p.K51K	p.R247K			P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	806	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	0					Q16072|Q5VTH4|Q92677|Q9BR67	Missense_Mutation	SNP	ENST00000533357.1	37	c.740G>A	CCDS1229.2	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782831	0.70222	.	.	ENSG00000158887	ENST00000336559	D	0.96651	-4.08	5.17	5.17	0.71159	.	.	.	.	.	D	0.97402	0.9150	.	.	.	0.19775	N	0.999956	.	.	.	.	.	.	D	0.97892	1.0298	5	0.87932	D	0	-14.4508	16.2183	0.82241	0.0:1.0:0.0:0.0	.	.	.	.	K	247	ENSP00000337777:R247K	ENSP00000337777:R247K	R	-	2	0	MPZ	159542296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.628000	0.54259	2.687000	0.91594	0.655000	0.94253	AGA		0.592	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530		44	58	0	0	0	1	0	44	58				
CDH6	1004	broad.mit.edu	37	5	31318075	31318075	+	Intron	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:31318075C>T	ENST00000265071.2	+	11	2147				CDH6_ENST00000514738.1_Silent_p.G587G	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGTGAGGGGCTCACACTGTT	0.522																																						ENST00000514738.1																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1759-1761)ggC>ggT		cadherin 6, type 2, K-cadherin (fetal kidney)							57.0	59.0	58.0					5																	31318075		2200	4292	6492	SO:0001627	intron_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31318075C>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1882+44C>T	5.37:g.31318075C>T						CDH6_ENST00000265071.2_Intron	p.G587G			P55285	CADH6_HUMAN			11	2191	+			0			Cadherin 5.		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.1761C>T	CCDS3894.1																																																																																				0.522	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		35	47	0	0	0	1	0	35	47				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				4	10	1	0	0.00909568	1	0.00909568	4	10				
GXYLT1	283464	broad.mit.edu	37	12	42512817	42512817	+	Silent	SNP	A	A	G	rs201566551		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr12:42512817A>G	ENST00000398675.3	-	3	703	c.471T>C	c.(469-471)caT>caC	p.H157H	GXYLT1_ENST00000280876.6_Silent_p.H126H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	157					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CTTTAAAGCTATGATGTAGCT	0.323																																						ENST00000398675.3																			0				kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						c.(469-471)caT>caC		glucoside xylosyltransferase 1							71.0	64.0	66.0					12																	42512817		1859	4097	5956	SO:0001819	synonymous_variant	283464				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr12:42512817A>G	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.471T>C	12.37:g.42512817A>G						GXYLT1_ENST00000280876.6_Silent_p.H126H	p.H157H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN			3	703	-			157					B3KWJ2|Q8IXV1|Q96BH4	Silent	SNP	ENST00000398675.3	37	c.471T>C	CCDS41772.1																																																																																				0.323	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		4	25	0	0	0	1	0	4	25				
TOP1MT	116447	broad.mit.edu	37	8	144392244	144392244	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:144392244A>G	ENST00000329245.4	-	13	1731	c.1697T>C	c.(1696-1698)aTt>aCt	p.I566T	TOP1MT_ENST00000521193.1_Missense_Mutation_p.I468T|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I468T|TOP1MT_ENST00000523676.1_Missense_Mutation_p.I468T	NM_052963.2	NP_443195.1	Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	566					DNA replication (GO:0006260)|DNA topological change (GO:0006265)	chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCACCAGGCAATGCTGATCCT	0.627																																						ENST00000523676.1																			0				endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23						c.(1402-1404)aTt>aCt		topoisomerase (DNA) I, mitochondrial	Irinotecan(DB00762)|Topotecan(DB01030)						105.0	94.0	98.0					8																	144392244		2203	4300	6503	SO:0001583	missense	116447				DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity	g.chr8:144392244A>G	AF349018	CCDS6400.1, CCDS59115.1	8q24.3	2006-04-12				ENSG00000184428			29787	protein-coding gene	gene with protein product		606387				11526219	Standard	NM_052963		Approved		uc003yxz.4	Q969P6		ENST00000329245.4:c.1697T>C	8.37:g.144392244A>G	ENSP00000328835:p.Ile566Thr					TOP1MT_ENST00000521193.1_Missense_Mutation_p.I468T|TOP1MT_ENST00000329245.4_Missense_Mutation_p.I566T|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I468T	p.I468T			Q969P6	TOP1M_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		14	1808	-	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		566					B7ZAR5|E7ES89|Q86ST4|Q86V82	Missense_Mutation	SNP	ENST00000329245.4	37	c.1403T>C	CCDS6400.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.109653	0.37242	.	.	ENSG00000184428	ENST00000329245;ENST00000521193;ENST00000519148;ENST00000523676	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.18	3.01	0.34805	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);	0.359358	0.19123	U	0.122134	T	0.39600	0.1084	M	0.74258	2.255	0.44006	D	0.996715	B;B	0.33583	0.418;0.02	B;B	0.28305	0.088;0.026	T	0.29397	-1.0013	10	0.66056	D	0.02	.	8.5781	0.33612	0.9058:0.0:0.0942:0.0	.	361;566	E7ESI1;Q969P6	.;TOP1M_HUMAN	T	566;468;468;468	ENSP00000328835:I566T;ENSP00000428369:I468T;ENSP00000429169:I468T;ENSP00000429181:I468T	ENSP00000328835:I566T	I	-	2	0	TOP1MT	144463619	0.403000	0.25319	0.003000	0.11579	0.791000	0.44710	5.083000	0.64456	0.480000	0.27534	0.421000	0.28195	ATT		0.627	TOP1MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381247.3	NM_052963		47	79	0	0	0	1	0	47	79				
STX11	8676	broad.mit.edu	37	6	144508400	144508400	+	Silent	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr6:144508400C>T	ENST00000367568.4	+	2	819	c.636C>T	c.(634-636)cgC>cgT	p.R212R		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	212	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.			ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031). {ECO:0000305}.	cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCCGCCACCGCGAACTGCTGC	0.637									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(634-636)cgC>cgT		syntaxin 11							36.0	39.0	38.0					6																	144508400		2203	4300	6503	SO:0001819	synonymous_variant	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508400C>T	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.636C>T	6.37:g.144508400C>T							p.R212R	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	819	+			212	ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031).		t-SNARE coiled-coil homology.		E1P598|O75378|O95148|Q5TCL6	Silent	SNP	ENST00000367568.4	37	c.636C>T	CCDS5205.1																																																																																				0.637	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			40	14	0	0	0	1	0	40	14				
RTP2	344892	broad.mit.edu	37	3	187416395	187416395	+	Missense_Mutation	SNP	G	G	A	rs569180222		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr3:187416395G>A	ENST00000358241.1	-	2	997	c.569C>T	c.(568-570)gCg>gTg	p.A190V		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	190					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GCCGGATCCCGCCTGGGCCCT	0.612																																						ENST00000358241.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(568-570)gCg>gTg		receptor (chemosensory) transporter protein 2							73.0	79.0	77.0					3																	187416395		2203	4300	6503	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416395G>A	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.569C>T	3.37:g.187416395G>A	ENSP00000350976:p.Ala190Val						p.A190V	NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	997	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		190					Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.569C>T	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	G	3.371	-0.128517	0.06753	.	.	ENSG00000198471	ENST00000358241	T	0.17370	2.28	3.75	-2.79	0.05841	.	1.010060	0.07948	N	0.980454	T	0.08223	0.0205	N	0.14661	0.345	0.09310	N	1	B	0.25486	0.127	B	0.19148	0.024	T	0.36817	-0.9732	10	0.30854	T	0.27	-0.0478	6.2566	0.20877	0.0:0.3485:0.403:0.2485	.	190	Q5QGT7	RTP2_HUMAN	V	190	ENSP00000350976:A190V	ENSP00000350976:A190V	A	-	2	0	RTP2	188899089	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.433000	0.02428	-0.527000	0.06374	0.462000	0.41574	GCG		0.612	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		47	75	0	0	0	1	0	47	75				
C8A	731	broad.mit.edu	37	1	57341750	57341750	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:57341750G>A	ENST00000361249.3	+	4	428	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	111	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCCTGAAACGCCACCTTGTG	0.542																																						ENST00000361249.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(331-333)cGc>cAc		complement component 8, alpha polypeptide							95.0	83.0	87.0					1																	57341750		2203	4300	6503	SO:0001583	missense	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57341750G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.332G>A	1.37:g.57341750G>A	ENSP00000354458:p.Arg111His						p.R111H	NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN			4	428	+			111			LDL-receptor class A.		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	c.332G>A	CCDS606.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220530	0.79464	.	.	ENSG00000157131	ENST00000361249	D	0.87256	-2.23	5.83	3.92	0.45320	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.367344	0.32175	N	0.006463	D	0.90300	0.6966	L	0.55017	1.72	0.40633	D	0.981878	D	0.89917	1.0	D	0.81914	0.995	D	0.89739	0.3932	10	0.72032	D	0.01	-9.3297	9.1003	0.36664	0.1347:0.1226:0.7426:0.0	.	111	P07357	CO8A_HUMAN	H	111	ENSP00000354458:R111H	ENSP00000354458:R111H	R	+	2	0	C8A	57114338	0.732000	0.28121	0.999000	0.59377	0.990000	0.78478	1.095000	0.30964	0.782000	0.33613	0.650000	0.86243	CGC		0.542	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		16	38	0	0	0	1	0	16	38				
AEBP1	165	broad.mit.edu	37	7	44151920	44151920	+	Splice_Site	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:44151920G>A	ENST00000223357.3	+	17	2522	c.2217G>A	c.(2215-2217)acG>acA	p.T739T	AEBP1_ENST00000450684.2_Splice_Site_p.T314T|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	739	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CAGATGCCACGGTGAGGCTAC	0.622																																						ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.e17+1		AE binding protein 1							32.0	34.0	33.0					7																	44151920		2203	4300	6503	SO:0001630	splice_region_variant	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44151920G>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2217+1G>A	7.37:g.44151920G>A						AEBP1_ENST00000450684.2_Splice_Site_p.T314_splice	p.T739_splice	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			17	2522	+			739			Interaction with PTEN (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Splice_Site	SNP	ENST00000223357.3	37	c.2217_splice	CCDS5476.1																																																																																				0.622	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129	Silent	4	75	0	0	0	1	0	4	75				
EPPK1	83481	broad.mit.edu	37	8	144942913	144942913	+	Silent	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:144942913G>A	ENST00000525985.1	-	2	4580	c.4509C>T	c.(4507-4509)agC>agT	p.S1503S				P58107	EPIPL_HUMAN	epiplakin 1	1503						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGTGACTGCGCTGACCACCT	0.687																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4507-4509)agC>agT		epiplakin 1							15.0	18.0	17.0					8																	144942913		2118	4223	6341	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942913G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4509C>T	8.37:g.144942913G>A							p.S1503S			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	4580	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1503					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.4509C>T																																																																																					0.687	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	8	0	0	0	1	0	4	8				
ANKRD34B	340120	broad.mit.edu	37	5	79854526	79854526	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:79854526T>C	ENST00000338682.3	-	5	1985	c.1313A>G	c.(1312-1314)gAt>gGt	p.D438G		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	438						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AACACTGTGATCTAAAGGGAA	0.453																																						ENST00000338682.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28						c.(1312-1314)gAt>gGt		ankyrin repeat domain 34B							132.0	138.0	136.0					5																	79854526		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79854526T>C		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1313A>G	5.37:g.79854526T>C	ENSP00000339802:p.Asp438Gly						p.D438G	NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	5	1985	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	438					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.1313A>G	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.929328	0.34096	.	.	ENSG00000189127	ENST00000338682	T	0.27402	1.67	6.04	6.04	0.98038	.	0.145674	0.40818	N	0.001003	T	0.52789	0.1756	M	0.74647	2.275	0.80722	D	1	D	0.69078	0.997	P	0.59546	0.859	T	0.57046	-0.7878	10	0.87932	D	0	-15.3671	15.4235	0.75031	0.0:0.0:0.0:1.0	.	438	A5PLL1	AN34B_HUMAN	G	438	ENSP00000339802:D438G	ENSP00000339802:D438G	D	-	2	0	ANKRD34B	79890282	1.000000	0.71417	0.900000	0.35374	0.045000	0.14185	7.985000	0.88162	2.317000	0.78254	0.460000	0.39030	GAT		0.453	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		75	109	0	0	0	1	0	75	109				
OTOS	150677	broad.mit.edu	37	2	241079506	241079506	+	Splice_Site	SNP	C	C	T			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:241079506C>T	ENST00000391989.2	-	4	289		c.e4-1		OTOS_ENST00000319460.1_Splice_Site			Q8NHW6	OTOSP_HUMAN	otospiralin						sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGCTTGGCCCCTGCAAAGGAA	0.572																																						ENST00000391989.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.e4-1		otospiralin							53.0	52.0	53.0					2																	241079506		2203	4300	6503	SO:0001630	splice_region_variant	150677					extracellular region		g.chr2:241079506C>T		CCDS2533.1	2q37.3	2008-02-05			ENSG00000178602	ENSG00000178602			22644	protein-coding gene	gene with protein product		607877				12687421	Standard	NM_148961		Approved	OTOSP	uc002vyv.3	Q8NHW6	OTTHUMG00000133351	ENST00000391989.2:c.59-1G>A	2.37:g.241079506C>T						OTOS_ENST00000319460.1_Splice_Site				Q8NHW6	OTOSP_HUMAN		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)	4	289	-		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)						Q53SW6	Splice_Site	SNP	ENST00000391989.2	37		CCDS2533.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732168	0.48939	.	.	ENSG00000178602	ENST00000391989;ENST00000319460	.	.	.	3.39	3.39	0.38822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0273	0.47753	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OTOS	240728179	0.995000	0.38212	0.990000	0.47175	0.897000	0.52465	2.961000	0.49168	1.863000	0.54032	0.563000	0.77884	.		0.572	OTOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257181.3	NM_148961	Intron	23	8	0	0	0	1	0	23	8				
PIK3R1	5295	broad.mit.edu	37	5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:67591097A>G	ENST00000521381.1	+	13	2306	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	564					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	CAAACGTATGAACAGCATTAA	0.373			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		7	Substitution - Missense(4)|Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)	large_intestine(3)|central_nervous_system(2)|lung(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1690-1692)Aac>Gac		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						146.0	145.0	146.0					5																	67591097		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591097A>G	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1690A>G	5.37:g.67591097A>G	ENSP00000428056:p.Asn564Asp	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D	p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2306	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	564					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1690A>G	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.694508	0.88830	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.51822	0.1697	M	0.84846	2.72	0.80722	D	1	B;B;B;P	0.50272	0.162;0.107;0.082;0.933	B;B;B;P	0.53450	0.202;0.352;0.236;0.726	T	0.61535	-0.7043	10	0.66056	D	0.02	-28.8288	14.3587	0.66754	1.0:0.0:0.0:0.0	.	234;294;264;564	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	D	564;564;564;564;264;294;201	ENSP00000428056:N564D;ENSP00000429277:N564D;ENSP00000379855:N564D;ENSP00000274335:N564D;ENSP00000323512:N264D;ENSP00000338554:N294D;ENSP00000430098:N201D	ENSP00000274335:N564D	N	+	1	0	PIK3R1	67626853	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.087000	0.94110	2.036000	0.60181	0.377000	0.23210	AAC		0.373	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		52	51	0	0	0	1	0	52	51				
MROH7	374977	broad.mit.edu	37	1	55166019	55166019	+	Missense_Mutation	SNP	G	G	A	rs540672415		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:55166019G>A	ENST00000421030.2	+	18	3275	c.2990G>A	c.(2989-2991)cGg>cAg	p.R997Q	MROH7_ENST00000454855.2_Missense_Mutation_p.R515Q|MROH7_ENST00000545244.1_Missense_Mutation_p.G527R|MROH7_ENST00000409996.1_Missense_Mutation_p.R565Q|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.R997Q	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	997						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CAGGTGCGCCGGATCCCCGAG	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17092	0.0		0.0	False		,,,				2504	0.0					ENST00000414150.2																			0											c.(2989-2991)cGg>cAg		maestro heat-like repeat family member 7							27.0	29.0	28.0					1																	55166019		1955	4133	6088	SO:0001583	missense	374977							g.chr1:55166019G>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2990G>A	1.37:g.55166019G>A	ENSP00000396622:p.Arg997Gln					MROH7_ENST00000421030.2_Missense_Mutation_p.R997Q|MROH7_ENST00000409996.1_Missense_Mutation_p.R565Q|MROH7_ENST00000454855.2_Missense_Mutation_p.R515Q|MROH7_ENST00000545244.1_Missense_Mutation_p.G527R	p.R997Q							18	3268	+								A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.2990G>A	CCDS41342.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.47|19.47	3.833640|3.833640	0.71258|0.71258	.|.	.|.	ENSG00000184313|ENSG00000184313	ENST00000545244|ENST00000421030;ENST00000414867;ENST00000409996;ENST00000454855;ENST00000371287	T|T;T;T;T	0.03772|0.31247	3.81|1.5;1.5;1.5;2.62	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.572426	.|0.15690	.|N	.|0.249490	T|T	0.56775|0.56775	0.2008|0.2008	M|M	0.77103|0.77103	2.36|2.36	0.40445|0.40445	D|D	0.980085|0.980085	D|P;D	0.67145|0.89917	0.996|0.952;1.0	P|B;D	0.56514|0.81914	0.8|0.319;0.995	T|T	0.52779|0.52779	-0.8530|-0.8530	9|10	0.72032|0.41790	D|T	0.01|0.15	-20.1366|-20.1366	14.7732|14.7732	0.69696|0.69696	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	527|997;997	F5H7R4|Q68CQ1;Q68CQ1-9	.|HEAT8_HUMAN;.	R|Q	527|997;1026;565;515;66	ENSP00000442333:G527R|ENSP00000396622:R997Q;ENSP00000387048:R565Q;ENSP00000401130:R515Q;ENSP00000360336:R66Q	ENSP00000442333:G527R|ENSP00000360336:R66Q	G|R	+|+	1|2	0|0	HEATR8|HEATR8	54938607|54938607	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.235000|0.235000	0.25334|0.25334	4.787000|4.787000	0.62432|0.62432	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	GGA|CGG		0.642	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547		4	50	0	0	0	1	0	4	50				
TSHZ2	128553	broad.mit.edu	37	20	51872176	51872176	+	Missense_Mutation	SNP	T	T	C	rs35790657		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr20:51872176T>C	ENST00000371497.5	+	2	3066	c.2179T>C	c.(2179-2181)Tcc>Ccc	p.S727P	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S724P|TSHZ2_ENST00000603338.2_Missense_Mutation_p.S724P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	727					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGCACAATTTCCATGTTCCA	0.562																																						ENST00000371497.5																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(2179-2181)Tcc>Ccc		teashirt zinc finger homeobox 2							79.0	73.0	75.0					20																	51872176		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872176T>C	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2179T>C	20.37:g.51872176T>C	ENSP00000360552:p.Ser727Pro					TSHZ2_ENST00000603338.2_Missense_Mutation_p.S724P|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S724P	p.S727P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3066	+			727					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2179T>C	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	T	8.880	0.951399	0.18431	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.54675	0.56;0.56	5.72	0.926	0.19430	.	0.360898	0.30879	N	0.008698	T	0.34019	0.0883	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.14392	-1.0474	10	0.35671	T	0.21	-0.0057	1.61	0.02692	0.1256:0.2041:0.1309:0.5394	.	727	Q9NRE2	TSH2_HUMAN	P	727;724;253	ENSP00000360552:S727P;ENSP00000333114:S724P	ENSP00000333114:S724P	S	+	1	0	TSHZ2	51305583	0.313000	0.24554	0.005000	0.12908	0.869000	0.49853	0.809000	0.27168	-0.100000	0.12241	0.523000	0.50628	TCC		0.562	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		35	36	0	0	0	1	0	35	36				
MUC17	140453	broad.mit.edu	37	7	100679199	100679199	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:100679199G>A	ENST00000306151.4	+	3	4566	c.4502G>A	c.(4501-4503)gGt>gAt	p.G1501D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1501	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGCTGAAGGTACCAGCATA	0.478																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4501-4503)gGt>gAt		mucin 17, cell surface associated							193.0	185.0	188.0					7																	100679199		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100679199G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4502G>A	7.37:g.100679199G>A	ENSP00000302716:p.Gly1501Asp						p.G1501D	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4566	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1501			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4502G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	0.014	-1.595005	0.00857	.	.	ENSG00000169876	ENST00000306151	T	0.03580	3.88	0.834	-1.67	0.08238	.	.	.	.	.	T	0.01905	0.0060	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.47736	-0.9094	9	0.15066	T	0.55	.	2.2502	0.04042	0.5225:0.0:0.2299:0.2476	.	1501	Q685J3	MUC17_HUMAN	D	1501	ENSP00000302716:G1501D	ENSP00000302716:G1501D	G	+	2	0	MUC17	100465919	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.819000	0.00358	-1.974000	0.00998	-1.379000	0.01178	GGT		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		6	337	0	0	0	1	0	6	337				
RSBN1	54665	broad.mit.edu	37	1	114308980	114308980	+	Silent	SNP	G	G	A			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:114308980G>A	ENST00000261441.5	-	7	2094	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	677						nucleus (GO:0005634)		p.F677F(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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)		TTCTAGGGATGAAGTAGATAT	0.443																																						ENST00000261441.5																			1	Substitution - coding silent(1)	p.F677F(1)	lung(1)	breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29						c.(2029-2031)ttC>ttT		round spermatid basic protein 1							100.0	93.0	95.0					1																	114308980		2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114308980G>A	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2031C>T	1.37:g.114308980G>A						RSBN1_ENST00000369581.2_5'UTR	p.F677F	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_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)	7	2094	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	677					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.2031C>T	CCDS862.1																																																																																				0.443	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		39	62	0	0	0	1	0	39	62				
RP11-24M17.5	0	broad.mit.edu	37	15	76073351	76073351	+	RNA	SNP	G	G	A	rs200415977	byFrequency	TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr15:76073351G>A	ENST00000395215.3	+	0	544																											TCCTTACAGCGTATTCAAGAA	0.567													.|||	3	0.000599042	0.0023	0.0	5008	,	,		19457	0.0		0.0	False		,,,				2504	0.0					ENST00000395215.3																			0																																																			0							g.chr15:76073351G>A																													15.37:g.76073351G>A														0	544	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	8.444	0.851513	0.17034	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.756	0.756	0.18421	.	.	.	.	.	T	0.33904	0.0879	.	.	.	.	.	.	B	0.27932	0.194	B	0.30179	0.112	T	0.40289	-0.9571	6	0.39692	T	0.17	.	7.3536	0.26706	1.0E-4:0.0:0.9999:0.0	.	168	B4DZE6	.	H	168	.	ENSP00000378641:R168H	R	+	2	0	AC019294.2	73860406	1.000000	0.71417	0.061000	0.19648	0.354000	0.29330	4.384000	0.59607	0.706000	0.31912	0.162000	0.16502	CGT		0.567	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			4	95	0	0	0	1	0	4	95				
ZNF80	7634	broad.mit.edu	37	3	113951739	113951739	+	IGR	DEL	C	C	-	rs398052210|rs377674793|rs71633344	byFrequency	TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr3:113951739delC	ENST00000482457.2	-	0	2939				RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CTGCCCCCTGCCCCCCCCCCA	0.652													|||unknown(HR)	2551	0.509385	0.6263	0.5	5008	,	,		15484	0.3006		0.5507	False		,,,				2504	0.5307				GBM(23;986 1114 21716)	ENST00000493033.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:113951739delC	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332		3.37:g.113951739delC						RP11-553L6.2_ENST00000481773.1_RNA								0	160	+								Q6NSW4|Q6NT14	RNA	DEL	ENST00000482457.2	37		CCDS2979.1																																																																																				0.652	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		4	3						4	3	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs530695040|rs72269802|rs5862765		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(163-168)gggcgg>ggGGCgcgg		POU class 4 homeobox 2																																				SO:0001652	inframe_insertion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560457_147560458insGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.196_198dupGGC	4.37:g.147560464_147560466dupGGC	ENSP00000281321:p.Gly68dup					AC093887.1_ENST00000584185.1_RNA	p.55_56GR>GAR	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	413_414	+	all_hematologic(180;0.151)		55			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Ins	INS	ENST00000281321.3	37	c.165_166insGGC	CCDS34074.1																																																																																				0.762	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		5	10						5	10	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66762433	66762433	+	RNA	DEL	A	A	-	rs530279026	byFrequency	TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:66762433delA	ENST00000414507.1	-	0	184				Y_RNA_ENST00000364695.1_RNA					postmeiotic segregation increased 2 pseudogene 4																		tctcaaaaagaaaaaaaaaaa	0.408													|||unknown(HR)	2771	0.553315	0.6127	0.5648	5008	,	,		17205	0.5159		0.5129	False		,,,				2504	0.545					ENST00000414507.1																			0																																																			0							g.chr7:66762433delA	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66762433delA														0	184	-									RNA	DEL	ENST00000414507.1	37																																																																																						0.408	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		3	3						3	3	---	---	---	---
LINC00459	100874180	broad.mit.edu	37	13	62902516	62902516	+	lincRNA	DEL	A	A	-			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr13:62902516delA	ENST00000431656.1	+	0	298									long intergenic non-protein coding RNA 459																		CTGTGCAGAGAAAAAAATCAA	0.383																																						ENST00000431656.1																			0																																																			0							g.chr13:62902516delA			13q21.31	2012-10-12			ENSG00000229307	ENSG00000229307		"""Long non-coding RNAs"""	42808	non-coding RNA	RNA, long non-coding							Standard			Approved				OTTHUMG00000017015		13.37:g.62902516delA														0	298	+									RNA	DEL	ENST00000431656.1	37																																																																																						0.383	LINC00459-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000045187.1			2	4						2	4	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138372	20138372	+	RNA	DEL	G	G	-	rs542749146|rs368935470		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr14:20138372delG	ENST00000548261.1	+	0	391																											TGAAACAaaagaaagaaagaa	0.398																																						ENST00000548261.1																			0																																																			0							g.chr14:20138372delG																													14.37:g.20138372delG														0	391	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.398	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			5	8						5	8	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22709277	22709278	+	RNA	INS	-	-	A	rs377506667	byFrequency	TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr15:22709277_22709278insA	ENST00000314246.8	-	0	1157				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CTCTGGATTCCAaaaaaaaaag	0.515													|||unknown(HR)	672	0.134185	0.3185	0.1326	5008	,	,		21907	0.0179		0.0616	False		,,,				2504	0.0808					ENST00000314246.8																			0																																																			0							g.chr15:22709277_22709278insA			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709287_22709287dupA														0	1157	-									RNA	INS	ENST00000314246.8	37																																																																																						0.515	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		7	71						7	71	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29286348	29286349	+	lincRNA	DEL	CG	CG	-	rs184670713		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr16:29286348_29286349delCG	ENST00000398878.3	+	0	214							Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		CTGTGTCCCTCGGCCTCTCTGT	0.564																																						ENST00000398878.3																			0																																																			0							g.chr16:29286348_29286349delCG	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29286348_29286349delCG														0	214	+									RNA	DEL	ENST00000398878.3	37																																																																																						0.564	SNX29P2-202	KNOWN	basic	lincRNA	lincRNA		NR_002939		2	4						2	4	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1009186	1009188	+	In_Frame_Del	DEL	AGC	AGC	-	rs142853420	byFrequency	TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr19:1009186_1009188delAGC	ENST00000234389.3	+	9	2736_2738	c.2717_2719delAGC	c.(2716-2721)gagcag>gag	p.Q912del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	912					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCGAGGTGGagcagcagcagca	0.744														602	0.120208	0.0983	0.0677	5008	,	,		9784	0.1657		0.0815	False		,,,				2504	0.18					ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(2716-2721)gag>g		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)																																			SO:0001651	inframe_deletion	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1009186_1009188delAGC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2717_2719delAGC	19.37:g.1009195_1009197delAGC	ENSP00000234389:p.Gln912del						p.EQ906del	NM_138690.1	NP_619635.1	O60391	NMD3B_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)	9	2736_2738	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	906					Q5EAK7|Q7RTW9	In_Frame_Del	DEL	ENST00000234389.3	37	c.2717_2719delAGC	CCDS32861.1																																																																																				0.744	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			3	4						3	4	---	---	---	---
GGT5	2687	broad.mit.edu	37	22	24628809	24628809	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr22:24628809delA	ENST00000327365.4	-	4	994	c.578delT	c.(577-579)ttgfs	p.L193fs	GGT5_ENST00000263112.7_Frame_Shift_Del_p.L161fs|GGT5_ENST00000398292.3_Frame_Shift_Del_p.L193fs|GGT5_ENST00000418439.2_Frame_Shift_Del_p.L117fs	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	193					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGACGCCTGCAAGGAAGGCCG	0.662																																						ENST00000327365.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						c.(577-579)tgfs		gamma-glutamyltransferase 5							32.0	32.0	32.0					22																	24628809		2191	4292	6483	SO:0001589	frameshift_variant	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24628809delA	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.578delT	22.37:g.24628809delA	ENSP00000330080:p.Leu193fs					GGT5_ENST00000398292.3_Frame_Shift_Del_p.L193fs|GGT5_ENST00000263112.7_Frame_Shift_Del_p.L161fs|GGT5_ENST00000418439.2_Frame_Shift_Del_p.L117fs	p.L193fs	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN			4	994	-			193					Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Frame_Shift_Del	DEL	ENST00000327365.4	37	c.578delT	CCDS13825.1																																																																																				0.662	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76919034	76919035	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chrX:76919034_76919035delTT	ENST00000373344.5	-	12	4170_4171	c.3956_3957delAA	c.(3955-3957)caafs	p.Q1319fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q1281fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1319	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CAGAATTGACTTGATTTTTTGC	0.361			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3955-3957)cfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76919034_76919035delTT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3956_3957delAA	X.37:g.76919034_76919035delTT	ENSP00000362441:p.Gln1319fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q1281fs|ATRX_ENST00000480283.1_5'UTR	p.Q1319fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			12	4170_4171	-			1319					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3956_3957delAA	CCDS14434.1																																																																																				0.361	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		9	2						9	2	---	---	---	---
