#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
MT-CO2	4513	broad.mit.edu	37	M	7976	7976	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chrM:7976G>A	ENST00000361739.1	+	1	391	c.391G>A	c.(391-393)Ggc>Agc	p.G131S	MT-ND4_ENST00000361381.2_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	131					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						TCCTAGAACCAGGCGACCTGC	0.468																																						ENST00000361739.1																			0				endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						c.(391-393)Ggc>Agc		mitochondrially encoded cytochrome c oxidase II																																				SO:0001583	missense	4513							g.chrM:7976G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.391G>A	M.37:g.7976G>A	ENSP00000354876:p.Gly131Ser						p.G131S							1	391	+								Q37526	Missense_Mutation	SNP	ENST00000361739.1	37	c.391G>A																																																																																					0.468	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024029		5	32	0	0	0	1	0	5	32				
JADE1	79960	broad.mit.edu	37	4	129770169	129770169	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr4:129770169A>G	ENST00000226319.6	+	5	611	c.331A>G	c.(331-333)Agg>Ggg	p.R111G	PHF17_ENST00000511647.1_Missense_Mutation_p.R111G|PHF17_ENST00000413543.2_Missense_Mutation_p.R111G|PHF17_ENST00000452328.2_Splice_Site|PHF17_ENST00000512960.1_Missense_Mutation_p.R111G	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CATGTTCATCAGGCCCAAGAA	0.507																																						ENST00000226319.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(331-333)Agg>Ggg									188.0	165.0	173.0					4																	129770169		2203	4300	6503	SO:0001583	missense	0				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129770169A>G																												ENST00000226319.6:c.331A>G	4.37:g.129770169A>G	ENSP00000226319:p.Arg111Gly					PHF17_ENST00000413543.2_Missense_Mutation_p.R111G|PHF17_ENST00000452328.2_Splice_Site|PHF17_ENST00000512960.1_Missense_Mutation_p.R111G|PHF17_ENST00000511647.1_Missense_Mutation_p.R111G	p.R111G	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN			5	611	+			111						Missense_Mutation	SNP	ENST00000226319.6	37	c.331A>G	CCDS34062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.35|18.35	3.605495|3.605495	0.66445|0.66445	.|.	.|.	ENSG00000077684|ENSG00000077684	ENST00000452328|ENST00000226319;ENST00000511647;ENST00000504089;ENST00000512960;ENST00000503785;ENST00000535321;ENST00000510308;ENST00000413543;ENST00000507833;ENST00000508997	.|T;T;T;T;T;T;T;T;T	.|0.47869	.|0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	4.69|4.69	4.69|4.69	0.59074|0.59074	.|Enhancer of polycomb-like, N-terminal (1);	.|0.096084	.|0.64402	.|D	.|0.000002	.|T	.|0.41419	.|0.1158	L|L	0.50333|0.50333	1.59|1.59	0.48762|0.48762	D|D	0.999702|0.999702	.|B;B	.|0.27594	.|0.182;0.002	.|B;B	.|0.29440	.|0.102;0.007	.|T	.|0.26744	.|-1.0094	.|9	.|.	.|.	.|.	.|.	11.5687|11.5687	0.50822|0.50822	0.8404:0.1596:0.0:0.0|0.8404:0.1596:0.0:0.0	.|.	.|111;111	.|Q6IE81;Q6IE81-3	.|JADE1_HUMAN;.	.|G	-1|111	.|ENSP00000226319:R111G;ENSP00000423737:R111G;ENSP00000426590:R111G;ENSP00000425730:R111G;ENSP00000422445:R111G;ENSP00000421265:R111G;ENSP00000404211:R111G;ENSP00000424280:R111G;ENSP00000425535:R111G	.|.	.|R	+|+	.|1	.|2	PHF17|PHF17	129989619|129989619	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.993000|4.993000	0.63895|0.63895	2.084000|2.084000	0.62774|0.62774	0.533000|0.533000	0.62120|0.62120	.|AGG		0.507	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			4	107	0	0	0	1	0	4	107				
DDX52	11056	broad.mit.edu	37	17	35992180	35992180	+	Missense_Mutation	SNP	G	G	A	rs370696391		TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr17:35992180G>A	ENST00000349699.2	-	4	609	c.566C>T	c.(565-567)aCg>aTg	p.T189M	DDX52_ENST00000394367.3_Missense_Mutation_p.T81M	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	189						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TTGGATTGGCGTAGGCATTTG	0.418																																						ENST00000349699.2																			0				biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17						c.(565-567)aCg>aTg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 52		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	172.0	156.0	161.0		566	5.7	0.4	17		161	0,8600		0,0,4300	no	missense	DDX52	NM_007010.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	189/600	35992180	1,13005	2203	4300	6503	SO:0001583	missense	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35992180G>A	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.566C>T	17.37:g.35992180G>A	ENSP00000268854:p.Thr189Met					DDX52_ENST00000394367.3_Missense_Mutation_p.T81M	p.T189M	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN			4	609	-		Breast(25;0.00637)|Ovarian(249;0.15)	189					Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	c.566C>T	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166542	0.78339	2.27E-4	0.0	ENSG00000141141	ENST00000349699;ENST00000394367	T;T	0.20069	2.1;2.1	5.73	5.73	0.89815	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.097279	0.64402	D	0.000001	T	0.56630	0.1998	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.64592	-0.6371	10	0.87932	D	0	.	18.8798	0.92352	0.0:0.0:1.0:0.0	.	188;189	Q59H21;Q9Y2R4	.;DDX52_HUMAN	M	189;81	ENSP00000268854:T189M;ENSP00000377893:T81M	ENSP00000268854:T189M	T	-	2	0	DDX52	33066293	1.000000	0.71417	0.424000	0.26647	0.526000	0.34562	9.055000	0.93873	2.714000	0.92807	0.655000	0.94253	ACG		0.418	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		5	116	0	0	0	1	0	5	116				
TNFRSF14	8764	broad.mit.edu	37	1	2493197	2493197	+	Missense_Mutation	SNP	G	G	T			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr1:2493197G>T	ENST00000355716.4	+	6	936	c.637G>T	c.(637-639)Gtc>Ttc	p.V213F		NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	213					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		CCTCGTCATCGTCATTGTTTG	0.602			"""Mis, N, F"""		follicular lymphoma																																	ENST00000355716.4				Rec	yes		1	1p36.32	8764	"""Mis, N, F"""	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""			L			follicular lymphoma		0				kidney(1)	1						c.(637-639)Gtc>Ttc		tumor necrosis factor receptor superfamily, member 14							119.0	109.0	113.0					1																	2493197		2203	4300	6503	SO:0001583	missense	8764				immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity	g.chr1:2493197G>T	U70321	CCDS44046.1	1p36.32	2012-02-27	2011-08-11		ENSG00000157873	ENSG00000157873		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11912	protein-coding gene	gene with protein product	"""herpesvirus entry mediator"""	602746	"""tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)"""			8898196, 9162061	Standard	XM_006711018		Approved	HVEM, ATAR, TR2, LIGHTR, HVEA, CD270	uc001ajt.1	Q92956	OTTHUMG00000000792	ENST00000355716.4:c.637G>T	1.37:g.2493197G>T	ENSP00000347948:p.Val213Phe						p.V213F	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)	6	936	+	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	213					B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65	Missense_Mutation	SNP	ENST00000355716.4	37	c.637G>T	CCDS44046.1	.	.	.	.	.	.	.	.	.	.	G	6.495	0.459594	0.12342	.	.	ENSG00000157873	ENST00000434817;ENST00000435221;ENST00000451778;ENST00000355716	D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34	1.99	-3.48	0.04739	.	.	.	.	.	T	0.72301	0.3443	N	0.24115	0.695	0.09310	N	1	P	0.41041	0.736	B	0.38842	0.283	T	0.63637	-0.6592	9	0.48119	T	0.1	3.5177	1.5945	0.02661	0.1447:0.3871:0.2727:0.1956	.	213	Q92956	TNR14_HUMAN	F	213	ENSP00000415254:V213F;ENSP00000399292:V213F;ENSP00000399533:V213F;ENSP00000347948:V213F	ENSP00000347948:V213F	V	+	1	0	TNFRSF14	2481221	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-3.256000	0.00538	-0.888000	0.03956	0.313000	0.20887	GTC		0.602	TNFRSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002088.1			4	104	1	0	0.00909568	1	0.00909568	4	104				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	0							g.chr20:29628278G>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.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	102	0	0	0	1	0	4	102				
CLCA4	22802	broad.mit.edu	37	1	87031618	87031618	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr1:87031618C>T	ENST00000370563.3	+	6	911	c.869C>T	c.(868-870)aCa>aTa	p.T290I	CLCA4_ENST00000263723.5_Missense_Mutation_p.T3I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	290					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CCCATGGTGACACCACCTCCT	0.408																																						ENST00000370563.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(868-870)aCa>aTa		chloride channel accessory 4							155.0	147.0	149.0					1																	87031618		1892	4131	6023	SO:0001583	missense	22802					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:87031618C>T	AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.869C>T	1.37:g.87031618C>T	ENSP00000359594:p.Thr290Ile					CLCA4_ENST00000263723.5_Missense_Mutation_p.T3I	p.T290I	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN		all cancers(265;0.0202)|Epithelial(280;0.0404)	6	911	+		Lung NSC(277;0.238)	290					A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	ENST00000370563.3	37	c.869C>T	CCDS41355.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818157	0.32145	.	.	ENSG00000016602	ENST00000370563;ENST00000263723	T;T	0.13538	4.13;2.58	5.65	-4.03	0.04021	.	1.715830	0.03838	U	0.270175	T	0.03651	0.0104	L	0.35414	1.06	0.09310	N	1	B	0.29936	0.262	B	0.35039	0.194	T	0.43410	-0.9393	10	0.72032	D	0.01	0.3763	4.646	0.12572	0.4189:0.2054:0.3081:0.0676	.	290	Q14CN2	CLCA4_HUMAN	I	290;3	ENSP00000359594:T290I;ENSP00000263723:T3I	ENSP00000263723:T3I	T	+	2	0	CLCA4	86804206	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-2.012000	0.01451	-1.006000	0.03412	0.655000	0.94253	ACA		0.408	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028292.1	NM_012128		36	84	0	0	0	1	0	36	84				
NAIF1	203245	broad.mit.edu	37	9	130825860	130825860	+	Silent	SNP	G	G	C			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr9:130825860G>C	ENST00000373078.4	-	2	1050	c.831C>G	c.(829-831)ggC>ggG	p.G277G	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	277					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGCCTGTGTGCCCTCCATGG	0.642																																						ENST00000373078.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(829-831)ggC>ggG		nuclear apoptosis inducing factor 1							82.0	74.0	77.0					9																	130825860		2203	4300	6503	SO:0001819	synonymous_variant	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130825860G>C	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.831C>G	9.37:g.130825860G>C						NAIF1_ENST00000488519.1_5'UTR	p.G277G	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN			2	1050	-			277					B3KV81|Q8WU12	Silent	SNP	ENST00000373078.4	37	c.831C>G	CCDS6889.1																																																																																				0.642	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		20	29	0	0	0	1	0	20	29				
RP11-423O2.5	0	broad.mit.edu	37	1	142803342	142803342	+	lincRNA	SNP	T	T	G			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr1:142803342T>G	ENST00000423385.1	-	0	1623																											TGCACAAtttttttatgaagg	0.378																																						ENST00000423385.1																			0																																																			0							g.chr1:142803342T>G																													1.37:g.142803342T>G														0	1623	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.378	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	8	0	0	0	1	0	3	8				
MT-ND2	4536	broad.mit.edu	37	M	2128	2128	+	5'Flank	SNP	G	G	A			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chrM:2128G>A	ENST00000361453.3	+	0	0				MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CTTTGGACACTAGGAAAAAAC	0.383																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2128G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2128G>A	Exception_encountered							NR_039705.1						0	458	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.383	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		6	36	0	0	0	1	0	6	36				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)Agt>Ggt																																						SO:0001583	missense	0							g.chr20:29628299A>G			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.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G	p.S101G							6	681	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	85	0	0	0	1	0	4	85				
DPY19L2	283417	broad.mit.edu	37	12	63976288	63976288	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr12:63976288C>A	ENST00000324472.4	-	18	1806	c.1623G>T	c.(1621-1623)ttG>ttT	p.L541F	DPY19L2_ENST00000413230.2_5'UTR	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	541					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTAACAACTGCAATGTGTGAA	0.308																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1621-1623)ttG>ttT		dpy-19-like 2 (C. elegans)							64.0	58.0	60.0					12																	63976288		2203	4300	6503	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:63976288C>A		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.1623G>T	12.37:g.63976288C>A	ENSP00000315988:p.Leu541Phe					DPY19L2_ENST00000413230.2_5'UTR	p.L541F	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	18	1806	-			541					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.1623G>T	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810449	0.32053	.	.	ENSG00000177990	ENST00000324472	T	0.61627	0.09	3.35	3.35	0.38373	.	0.071863	0.56097	D	0.000022	T	0.74351	0.3705	M	0.86178	2.8	0.80722	D	1	P	0.50943	0.94	P	0.62560	0.904	T	0.78244	-0.2279	9	.	.	.	.	12.5508	0.56225	0.0:1.0:0.0:0.0	.	541	Q6NUT2	D19L2_HUMAN	F	541	ENSP00000315988:L541F	.	L	-	3	2	DPY19L2	62262555	1.000000	0.71417	0.689000	0.30133	0.103000	0.19146	2.762000	0.47597	1.842000	0.53543	0.313000	0.20887	TTG		0.308	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		15	47	1	0	7.93312e-07	1	8.36194e-07	15	47				
BPIFB6	128859	broad.mit.edu	37	20	31622089	31622089	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr20:31622089G>A	ENST00000349552.1	+	3	295	c.295G>A	c.(295-297)Ggc>Agc	p.G99S		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	99						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GACCGTCACTGGCAAGAGGTG	0.542																																						ENST00000349552.1																			0											c.(295-297)Ggc>Agc		BPI fold containing family B, member 6							119.0	93.0	102.0					20																	31622089		2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31622089G>A	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.295G>A	20.37:g.31622089G>A	ENSP00000344929:p.Gly99Ser						p.G99S	NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN			3	295	+			99						Missense_Mutation	SNP	ENST00000349552.1	37	c.295G>A	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.485218	0.84854	.	.	ENSG00000167104	ENST00000349552	T	0.07444	3.19	4.7	4.7	0.59300	.	0.000000	0.56097	D	0.000025	T	0.25680	0.0625	M	0.76002	2.32	0.42137	D	0.99149	D	0.89917	1.0	D	0.97110	1.0	T	0.03898	-1.0994	10	0.20519	T	0.43	.	13.1161	0.59301	0.0:0.0:1.0:0.0	.	99	Q8NFQ5	BPIB6_HUMAN	S	99	ENSP00000344929:G99S	ENSP00000344929:G99S	G	+	1	0	BPIFB6	31085750	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.939000	0.63526	2.146000	0.66826	0.561000	0.74099	GGC		0.542	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		6	102	0	0	0	1	0	6	102				
ZNF860	344787	broad.mit.edu	37	3	32031910	32031910	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr3:32031910A>G	ENST00000360311.4	+	2	1888	c.1339A>G	c.(1339-1341)Act>Gct	p.T447A		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						TCATTGGCGAACTCATACTGG	0.378																																						ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1339-1341)Act>Gct		zinc finger protein 860							106.0	96.0	99.0					3																	32031910		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031910A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1339A>G	3.37:g.32031910A>G	ENSP00000373274:p.Thr447Ala						p.T447A	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1888	+			447					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1339A>G	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	A	8.102	0.776802	0.16120	.	.	ENSG00000197385	ENST00000360311	T	0.01133	5.29	0.336	0.336	0.15958	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00998	0.0033	L	0.28740	0.885	0.09310	N	1	B	0.13145	0.007	B	0.19148	0.024	T	0.47407	-0.9120	8	.	.	.	.	4.9796	0.14158	0.9998:0.0:2.0E-4:0.0	.	447	A6NHJ4	ZN860_HUMAN	A	447	ENSP00000373274:T447A	.	T	+	1	0	ZNF860	32006914	0.000000	0.05858	0.026000	0.17262	0.024000	0.10985	0.069000	0.14552	0.327000	0.23409	0.317000	0.21355	ACT		0.378	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			10	51	0	0	0	1	0	10	51				
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G	rs201502468		TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTTGTACTAGAAACAGACC	0.552																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711423A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711423A>G								NR_003264.2						0	524	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.552	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	29	0	0	0	1	0	4	29				
ARHGAP4	393	broad.mit.edu	37	X	153186199	153186199	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chrX:153186199C>T	ENST00000350060.5	-	5	603	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	ARHGAP4_ENST00000370028.3_Missense_Mutation_p.A188T|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A167T|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A165T	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	188					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCGCTCGGCCTCCCGGAGC	0.652																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(562-564)Gcc>Acc		Rho GTPase activating protein 4							54.0	51.0	52.0					X																	153186199		2203	4299	6502	SO:0001583	missense	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153186199C>T	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.562G>A	X.37:g.153186199C>T	ENSP00000203786:p.Ala188Thr					ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.A167T|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.A188T|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.A165T	p.A188T	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			5	619	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		188					Q14144|Q86UY3	Missense_Mutation	SNP	ENST00000350060.5	37	c.562G>A	CCDS14736.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.42|17.42	3.385952|3.385952	0.61956|0.61956	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091|ENST00000418750	T;T;T;T;T;T|.	0.52526|.	0.66;0.66;0.66;0.66;0.66;0.66|.	4.89|4.89	4.03|4.03	0.46877|0.46877	.|.	0.157081|.	0.30293|.	N|.	0.009950|.	T|T	0.61887|0.61887	0.2383|0.2383	L|L	0.56280|0.56280	1.765|1.765	0.58432|0.58432	D|D	0.999997|0.999997	B;B|.	0.33940|.	0.433;0.134|.	B;B|.	0.35039|.	0.194;0.079|.	T|T	0.60378|0.60378	-0.7275|-0.7275	10|6	0.62326|0.39692	D|T	0.03|0.17	.|.	11.8787|11.8787	0.52562|0.52562	0.0:0.9085:0.0:0.0915|0.0:0.9085:0.0:0.0915	.|.	188;188|.	Q86UY3;P98171|.	.;RHG04_HUMAN|.	T|D	188;188;167;165;165;165|35	ENSP00000359045:A188T;ENSP00000203786:A188T;ENSP00000359033:A167T;ENSP00000444169:A165T;ENSP00000398259:A165T;ENSP00000413782:A165T|.	ENSP00000203786:A188T|ENSP00000385042:G197D	A|G	-|-	1|2	0|0	ARHGAP4|ARHGAP4	152839393|152839393	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.511000|0.511000	0.34104|0.34104	7.430000|7.430000	0.80321|0.80321	1.139000|1.139000	0.42245|0.42245	0.529000|0.529000	0.55759|0.55759	GCC|GGC		0.652	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		43	12	0	0	0	1	0	43	12				
IGKV1-5	28299	broad.mit.edu	37	2	89247307	89247307	+	RNA	SNP	C	C	G	rs370277802	byFrequency	TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr2:89247307C>G	ENST00000496168.1	-	0	168							P01602	KV110_HUMAN	immunoglobulin kappa variable 1-5						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TGTGTCCTGACTGGGTCTGAC	0.562													.|||	144	0.028754	0.084	0.0144	5008	,	,		8689	0.005		0.0119	False		,,,				2504	0.0061					ENST00000496168.1																			0																				117.0	115.0	116.0					2																	89247307		1247	2546	3793			0							g.chr2:89247307C>G	Z00001		2p11.2	2012-02-08			ENSG00000243466	ENSG00000243466		"""Immunoglobulins / IGK locus"""	5741	other	immunoglobulin gene							Standard	NG_000834		Approved			P01602	OTTHUMG00000151560		2.37:g.89247307C>G														0	168	-									RNA	SNP	ENST00000496168.1	37																																																																																						0.562	IGKV1-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323135.1	NG_000834		6	143	0	0	0	1	0	6	143				
MT-ND2	4536	broad.mit.edu	37	M	2455	2455	+	5'Flank	SNP	T	T	C			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chrM:2455T>C	ENST00000361453.3	+	0	0				MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CATAAGGAAAGGTTAAAAAAA	0.433																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2455T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2455T>C	Exception_encountered							NR_039705.1						0	785	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.433	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		7	32	0	0	0	1	0	7	32				
RYR1	6261	broad.mit.edu	37	19	39008171	39008171	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr19:39008171G>C	ENST00000359596.3	+	66	9858	c.9858G>C	c.(9856-9858)gaG>gaC	p.E3286D	RYR1_ENST00000355481.4_Missense_Mutation_p.E3286D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3286D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3286					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GATGGTGGGAGCGCGGGCCCG	0.682																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(9856-9858)gaG>gaC		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						38.0	32.0	34.0					19																	39008171		2203	4298	6501	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39008171G>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9858G>C	19.37:g.39008171G>C	ENSP00000352608:p.Glu3286Asp					RYR1_ENST00000359596.3_Missense_Mutation_p.E3286D|RYR1_ENST00000360985.3_Missense_Mutation_p.E3286D	p.E3286D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		66	9989	+	all_cancers(60;7.91e-06)		3286					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9858G>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663218	0.14710	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.88201	-2.35;-2.35;-2.35	3.83	3.83	0.44106	.	0.000000	0.64402	U	0.000002	D	0.88317	0.6404	M	0.65320	2	0.38866	D	0.956595	D;D;P	0.54207	0.965;0.965;0.941	P;P;B	0.50162	0.633;0.633;0.43	D	0.88162	0.2858	10	0.49607	T	0.09	.	7.4713	0.27351	0.2002:0.0:0.7998:0.0	.	3286;3286;3286	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	D	3286;3286;3286;206	ENSP00000352608:E3286D;ENSP00000347667:E3286D;ENSP00000354254:E3286D	ENSP00000347667:E3286D	E	+	3	2	RYR1	43700011	0.978000	0.34361	1.000000	0.80357	0.377000	0.30045	0.289000	0.18957	1.968000	0.57251	0.205000	0.17691	GAG		0.682	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			16	18	0	0	0	1	0	16	18				
ALG1L2	644974	broad.mit.edu	37	3	129817144	129817144	+	RNA	SNP	G	G	T			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr3:129817144G>T	ENST00000507643.1	+	0	726				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										TGCGGGAGTCGCAGCAGCTCT	0.527																																						ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129817144G>T	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129817144G>T										C9J202	AG1L2_HUMAN			0	726	+									RNA	SNP	ENST00000507643.1	37																																																																																						0.527	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		3	44	1	0	0.00909568	1	0.00909568	3	44				
KRTAP5-8	57830	broad.mit.edu	37	11	71249370	71249370	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr11:71249370G>A	ENST00000398534.3	+	1	300	c.269G>A	c.(268-270)tGc>tAc	p.C90Y		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	90	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						CAGTGCAGCTGCTATAAGCCC	0.637																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(268-270)tGc>tAc		keratin associated protein 5-8							76.0	101.0	92.0					11																	71249370		2200	4294	6494	SO:0001583	missense	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249370G>A	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.269G>A	11.37:g.71249370G>A	ENSP00000420723:p.Cys90Tyr						p.C90Y	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	300	+			90			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	c.269G>A	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	4.546	0.101476	0.08731	.	.	ENSG00000241233	ENST00000398534	T	0.01838	4.61	1.62	1.62	0.23740	.	.	.	.	.	T	0.09202	0.0227	M	0.84219	2.685	0.27020	N	0.964493	D	0.56035	0.974	P	0.61533	0.89	T	0.07927	-1.0747	9	0.87932	D	0	.	5.2334	0.15434	0.0:0.0:0.6591:0.3409	.	90	O75690	KRA58_HUMAN	Y	90	ENSP00000420723:C90Y	ENSP00000420723:C90Y	C	+	2	0	KRTAP5-8	70927018	1.000000	0.71417	0.364000	0.25888	0.005000	0.04900	4.521000	0.60532	1.232000	0.43678	0.405000	0.27470	TGC		0.637	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		8	285	0	0	0	1	0	8	285				
ASB15	142685	broad.mit.edu	37	7	123254610	123254610	+	Silent	SNP	G	G	A			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr7:123254610G>A	ENST00000451558.1	+	6	575	c.54G>A	c.(52-54)caG>caA	p.Q18Q	ASB15_ENST00000540573.1_Silent_p.Q18Q|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000434204.1_Silent_p.Q18Q|ASB15_ENST00000451215.1_Silent_p.Q18Q|RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000275699.3_Silent_p.Q18Q			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	18					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATGATATTCAGCTAAGTATTC	0.353																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(52-54)caG>caA		ankyrin repeat and SOCS box containing 15							202.0	205.0	204.0					7																	123254610		2203	4300	6503	SO:0001819	synonymous_variant	142685				intracellular signal transduction			g.chr7:123254610G>A	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.54G>A	7.37:g.123254610G>A						RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000275699.3_Silent_p.Q18Q|ASB15_ENST00000434204.1_Silent_p.Q18Q|ASB15_ENST00000540573.1_Silent_p.Q18Q|ASB15_ENST00000451215.1_Silent_p.Q18Q	p.Q18Q			Q8WXK1	ASB15_HUMAN			6	575	+			18					Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	ENST00000451558.1	37	c.54G>A	CCDS34742.1																																																																																				0.353	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			10	214	0	0	0	1	0	10	214				
MST1L	11223	broad.mit.edu	37	1	17083652	17083652	+	RNA	SNP	C	C	T	rs113710576		TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr1:17083652C>T	ENST00000455405.2	-	0	936							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										aaatctcaaccttgagtacaa	0.388																																						ENST00000455405.2																			0																																																			0							g.chr1:17083652C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083652C>T														0	936	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.388	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		5	32	0	0	0	1	0	5	32				
TMEM163	81615	broad.mit.edu	37	2	135223748	135223748	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr2:135223748T>C	ENST00000281924.6	-	6	668	c.604A>G	c.(604-606)Atc>Gtc	p.I202V		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	202						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ACGGCCAGGATGCTGCAAAGA	0.502																																						ENST00000281924.6																			0				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16						c.(604-606)Atc>Gtc		transmembrane protein 163							88.0	75.0	79.0					2																	135223748		2203	4300	6503	SO:0001583	missense	81615					integral to membrane		g.chr2:135223748T>C		CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.604A>G	2.37:g.135223748T>C	ENSP00000281924:p.Ile202Val						p.I202V	NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.154)	6	668	-			202					Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP	ENST00000281924.6	37	c.604A>G	CCDS2172.1	.	.	.	.	.	.	.	.	.	.	T	6.838	0.523785	0.13066	.	.	ENSG00000152128	ENST00000281924	T	0.62941	-0.01	6.07	2.48	0.30137	.	0.481828	0.23951	N	0.042949	T	0.33614	0.0869	N	0.15975	0.35	0.23314	N	0.997925	B	0.02656	0.0	B	0.04013	0.001	T	0.22417	-1.0217	10	0.05721	T	0.95	.	4.7887	0.13238	0.0:0.3074:0.1608:0.5318	.	202	Q8TC26	TM163_HUMAN	V	202	ENSP00000281924:I202V	ENSP00000281924:I202V	I	-	1	0	TMEM163	134940218	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.878000	0.28126	0.554000	0.29061	0.533000	0.62120	ATC		0.502	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254631.2	NM_030923		3	35	0	0	0	1	0	3	35				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	19	0	0	0	1	0	4	19				
NDUFA9	4704	broad.mit.edu	37	12	4766977	4766977	+	Missense_Mutation	SNP	A	A	T			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr12:4766977A>T	ENST00000266544.5	+	4	402	c.382A>T	c.(382-384)Aat>Tat	p.N128Y	RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	128					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						TGTGGTCATCAATCTTATTGG	0.423																																					Colon(75;996 1244 23946 25294 29232)	ENST00000266544.5																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(382-384)Aat>Tat		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	NADH(DB00157)						205.0	187.0	193.0					12																	4766977		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4766977A>T	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.382A>T	12.37:g.4766977A>T	ENSP00000266544:p.Asn128Tyr						p.N128Y	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN			4	402	+			128					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.382A>T	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816208	0.90790	.	.	ENSG00000139180	ENST00000266544	D	0.94184	-3.37	5.19	5.19	0.71726	NAD(P)-binding domain (1);NmrA-like (1);	0.000000	0.85682	D	0.000000	D	0.97420	0.9156	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98402	1.0568	10	0.87932	D	0	-16.1511	14.04	0.64669	1.0:0.0:0.0:0.0	.	128;128	A8K4V2;Q16795	.;NDUA9_HUMAN	Y	128	ENSP00000266544:N128Y	ENSP00000266544:N128Y	N	+	1	0	NDUFA9	4637238	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.461000	0.90372	1.953000	0.56701	0.533000	0.62120	AAT		0.423	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002		25	89	0	0	0	1	0	25	89				
MT-CO1	4512	broad.mit.edu	37	M	3244	3244	+	5'Flank	SNP	G	G	A			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chrM:3244G>A	ENST00000361624.2	+	0	0				MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND2_ENST00000361453.3_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						aagatggcagagcccggtaat	0.438																																						ENST00000386347.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:3244G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3244G>A	Exception_encountered													0	15	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.438	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		4	51	0	0	0	1	0	4	51				
CS	1431	broad.mit.edu	37	12	56668575	56668575	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr12:56668575G>A	ENST00000351328.3	-	9	1196	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F	CS_ENST00000548567.1_Missense_Mutation_p.L270F|CS_ENST00000542324.2_Missense_Mutation_p.L323F	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	336					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CCTGAGTTGAGTGTGTTCCAG	0.433																																						ENST00000548567.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17						c.(808-810)Ctc>Ttc		citrate synthase							134.0	108.0	117.0					12																	56668575		2203	4300	6503	SO:0001583	missense	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56668575G>A		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.1006C>T	12.37:g.56668575G>A	ENSP00000342056:p.Leu336Phe					CS_ENST00000542324.2_Missense_Mutation_p.L323F|CS_ENST00000351328.3_Missense_Mutation_p.L336F	p.L270F			O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	10	1278	-		Myeloproliferative disorder(1001;0.000374)	336					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	c.808C>T	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579235	0.86645	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000548746;ENST00000542324	.	.	.	5.56	5.56	0.83823	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	D	0.87799	0.6268	H	0.98048	4.135	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.81914	0.995;0.991;0.995	D	0.91063	0.4887	9	0.87932	D	0	-11.6215	12.7665	0.57394	0.0793:0.0:0.9207:0.0	.	323;291;336	B4DJV2;B3KTN4;O75390	.;.;CISY_HUMAN	F	270;336;9;323	.	ENSP00000342056:L336F	L	-	1	0	CS	54954842	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.674000	0.83992	2.797000	0.96272	0.561000	0.74099	CTC		0.433	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		5	67	0	0	0	1	0	5	67				
SLC26A10	65012	broad.mit.edu	37	12	58019099	58019099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr12:58019099C>T	ENST00000320442.4	+	12	1770	c.1459C>T	c.(1459-1461)Cag>Tag	p.Q487*	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	487	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.					integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					AGAAGTGGTGCAGGTGAGGGA	0.562																																						ENST00000320442.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19						c.(1459-1461)Cag>Tag		solute carrier family 26, member 10							191.0	181.0	184.0					12																	58019099		2203	4300	6503	SO:0001587	stop_gained	65012					integral to membrane	antiporter activity	g.chr12:58019099C>T		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.1459C>T	12.37:g.58019099C>T	ENSP00000320217:p.Gln487*					SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR	p.Q487*	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN			12	1770	+	Melanoma(17;0.122)		487			STAS.		A6NMJ2|B6ZDQ3|Q6ZWI7	Nonsense_Mutation	SNP	ENST00000320442.4	37	c.1459C>T	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	38	7.004512	0.97994	.	.	ENSG00000135502	ENST00000320442	.	.	.	4.4	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	10.6345	0.45556	0.0:0.9055:0.0:0.0945	.	.	.	.	X	487	.	ENSP00000320217:Q487X	Q	+	1	0	SLC26A10	56305366	0.943000	0.32029	0.961000	0.40146	0.953000	0.61014	1.952000	0.40343	1.236000	0.43740	-0.119000	0.15052	CAG		0.562	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			4	88	0	0	0	1	0	4	88				
CROCCP2	84809	broad.mit.edu	37	1	16957475	16957475	+	lincRNA	SNP	G	G	A			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr1:16957475G>A	ENST00000412962.1	-	0	203							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GGGCCTCTGCGGGGCGAACGG	0.716																																						ENST00000412962.1																			0																																																			0							g.chr1:16957475G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16957475G>A														0	203	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.716	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	6	0	0	0	1	0	3	6				
ETAA1	54465	broad.mit.edu	37	2	67631713	67631713	+	Silent	SNP	A	A	G			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr2:67631713A>G	ENST00000272342.5	+	5	2029	c.1899A>G	c.(1897-1899)tcA>tcG	p.S633S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	633						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GTAAGACATCAGAAAGTATAT	0.363																																						ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(1897-1899)tcA>tcG		Ewing tumor-associated antigen 1							104.0	110.0	108.0					2																	67631713		2201	4295	6496	SO:0001819	synonymous_variant	54465					cytoplasm|nucleus		g.chr2:67631713A>G	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1899A>G	2.37:g.67631713A>G						ETAA1_ENST00000462772.1_Intron	p.S633S	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	2029	+			633					Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	37	c.1899A>G	CCDS1882.1																																																																																				0.363	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		5	154	0	0	0	1	0	5	154				
CDK14	5218	broad.mit.edu	37	7	90613533	90613533	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr7:90613533G>C	ENST00000380050.3	+	10	1149	c.1018G>C	c.(1018-1020)Gat>Cat	p.D340H	CDK14_ENST00000265741.3_Missense_Mutation_p.D322H|CDK14_ENST00000406263.1_Missense_Mutation_p.D294H|CDK14_ENST00000436577.2_Missense_Mutation_p.D211H			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	340	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AGACATTCAGGATCAACTTGA	0.363																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(880-882)Gat>Cat		cyclin-dependent kinase 14							157.0	152.0	154.0					7																	90613533		2203	4300	6503	SO:0001583	missense	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90613533G>C		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1018G>C	7.37:g.90613533G>C	ENSP00000369390:p.Asp340His					CDK14_ENST00000380050.3_Missense_Mutation_p.D340H|CDK14_ENST00000436577.2_Missense_Mutation_p.D211H|CDK14_ENST00000265741.3_Missense_Mutation_p.D322H	p.D294H			O94921	CDK14_HUMAN			9	1322	+			340			Protein kinase.		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	ENST00000380050.3	37	c.880G>C		.	.	.	.	.	.	.	.	.	.	G	24.3	4.521553	0.85600	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.973;0.999	D	0.84628	0.0688	10	0.87932	D	0	-15.4141	19.1783	0.93612	0.0:0.0:1.0:0.0	.	211;322;340	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	H	340;322;294;211	ENSP00000369390:D340H;ENSP00000265741:D322H;ENSP00000385034:D294H;ENSP00000398936:D211H	ENSP00000265741:D322H	D	+	1	0	CDK14	90451469	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.028000	0.93712	2.703000	0.92315	0.655000	0.94253	GAT		0.363	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	NM_012395		6	145	0	0	0	1	0	6	145				
SPRR4	163778	broad.mit.edu	37	1	152944387	152944389	+	In_Frame_Del	DEL	GCG	GCG	-	rs73010454|rs201207143	byFrequency	TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr1:152944387_152944389delGCG	ENST00000328051.2	+	2	70_72	c.21_23delGCG	c.(19-24)cagcgg>cag	p.R8del		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	8	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcagcggcagcagcag	0.552																																						ENST00000328051.2																			0				lung(1)|prostate(1)	2						c.(19-24)cag>ca		small proline-rich protein 4																																				SO:0001651	inframe_deletion	163778				keratinization|peptide cross-linking	cell cortex		g.chr1:152944387_152944389delGCG	AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.21_23delGCG	1.37:g.152944387_152944389delGCG	ENSP00000332163:p.Arg8del						p.QR7del	NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	70_72	+	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		7			Gln-rich.		Q2M1Y7|Q5T522	In_Frame_Del	DEL	ENST00000328051.2	37	c.21_23delGCG	CCDS1031.1																																																																																				0.552	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034663.1	NM_173080		7	160						7	160	---	---	---	---
AC006988.1	0	broad.mit.edu	37	7	88269891	88269891	+	RNA	DEL	T	T	-	rs200675201		TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr7:88269891delT	ENST00000390184.1	+	0	57																											GAAGGAGCACTTTTTTTTTTT	0.313																																						ENST00000390184.1																			0																																																			0							g.chr7:88269891delT																													7.37:g.88269891delT														0	57	+									RNA	DEL	ENST00000390184.1	37																																																																																						0.313	AC006988.1-201	NOVEL	basic	miRNA	miRNA				2	4						2	4	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149518533	149518533	+	RNA	DEL	C	C	-	rs11353848		TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr7:149518533delC	ENST00000378016.2	+	0	12602							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGAGCAGTCCCAGAGCCAG	0.711																																						ENST00000378016.2																			0													SCO-spondin				326,3200		64,198,1501	4.0	5.0	5.0			3.0	1.0	7	dbSNP_120	5	1295,6157		261,773,2692	no	frameshift	SSPO	NM_198455.2		325,971,4193	A1A1,A1R,RR		17.3779,9.2456,14.7659			149518533	1621,9357	1809	3718	5527			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149518533delC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149518533delC										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	12602	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	DEL	ENST00000378016.2	37																																																																																						0.711	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				4	2						4	2	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-	rs539338573|rs34562444	byFrequency	TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aattatattgtttatttatttttg	0.23														1083	0.216254	0.1286	0.2435	5008	,	,		17643	0.1319		0.3718	False		,,,				2504	0.2423					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405323_89405326delTTTA	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405327_89405330delTTTA										Q9HBA9	FOH1B_HUMAN			0	1114	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.230	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		4	6						4	6	---	---	---	---
RP11-74M13.4	0	broad.mit.edu	37	12	57265997	57265997	+	RNA	DEL	T	T	-			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr12:57265997delT	ENST00000557452.1	+	0	1887																											CTTTTCTGTATTTTACTGTGA	0.398																																						ENST00000557452.1																			0																																																			0							g.chr12:57265997delT																													12.37:g.57265997delT														0	1887	+									RNA	DEL	ENST00000557452.1	37																																																																																						0.398	RP11-74M13.4-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000410896.1			2	4						2	4	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28929354	28929355	+	RNA	INS	-	-	A	rs370204687		TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr15:28929354_28929355insA	ENST00000528584.1	+	0	1891_1892					NR_036443.1				hect domain and RLD 2 pseudogene 9																		TTCAGAGATTCTCATTGGGAAG	0.421																																						ENST00000528584.1																			0																																																			0							g.chr15:28929354_28929355insA	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28929354_28929355insA								NR_036443.1						0	1891_1892	+									RNA	INS	ENST00000528584.1	37																																																																																						0.421	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		5	10						5	10	---	---	---	---
MAP2K1	5604	broad.mit.edu	37	15	66729094	66729099	+	In_Frame_Del	DEL	TGGAGA	TGGAGA	-			TCGA-FY-A76V-01A-11D-A397-08	TCGA-FY-A76V-10A-01D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	179619c3-8cd7-42b3-90c6-c2f64f4c865e	3d81374b-9d1a-481b-a560-996e5cadd36d	g.chr15:66729094_66729099delTGGAGA	ENST00000307102.5	+	3	833_838	c.302_307delTGGAGA	c.(301-309)ctggagatc>ctc	p.EI102del		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	102	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	CTAATTCATCTGGAGATCAAACCCGC	0.447																																						ENST00000307102.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						c.(301-309)ctc>c		mitogen-activated protein kinase kinase 1																																				SO:0001651	inframe_deletion	5604				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66729094_66729099delTGGAGA	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.302_307delTGGAGA	15.37:g.66729094_66729099delTGGAGA	ENSP00000302486:p.Glu102_Ile103del						p.LEI101del	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN			3	833_838	+			101			Protein kinase.			In_Frame_Del	DEL	ENST00000307102.5	37	c.302_307delTGGAGA	CCDS10216.1																																																																																				0.447	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			22	50						22	50	---	---	---	---
