#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
OPHN1	4983	broad.mit.edu	37	X	67413796	67413796	+	Splice_Site	SNP	T	T	C			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:67413796T>C	ENST00000355520.5	-	14	1780		c.e14-2		OPHN1_ENST00000540071.1_Splice_Site	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1						actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTAGCTCCACTGTTTCAAGCA	0.408																																						ENST00000355520.5																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						c.e14-2		oligophrenin 1							157.0	122.0	134.0					X																	67413796		2203	4300	6503	SO:0001630	splice_region_variant	4983				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chrX:67413796T>C	AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.1139-2A>G	X.37:g.67413796T>C						OPHN1_ENST00000540071.1_Splice_Site		NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN			14	1780	-								B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Splice_Site	SNP	ENST00000355520.5	37		CCDS14388.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.607911	0.66558	.	.	ENSG00000079482	ENST00000355520;ENST00000540071	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4754	0.50295	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	OPHN1	67330521	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.158000	0.71851	1.911000	0.55334	0.486000	0.48141	.		0.408	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1	NM_002547	Intron	14	32	0	0	0	1	0	14	32				
SCAPER	49855	broad.mit.edu	37	15	77087752	77087752	+	Missense_Mutation	SNP	C	C	T	rs369919523		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr15:77087752C>T	ENST00000563290.1	-	8	736	c.641G>A	c.(640-642)cGt>cAt	p.R214H	SCAPER_ENST00000324767.7_Missense_Mutation_p.R214H|SCAPER_ENST00000562890.1_5'UTR|SCAPER_ENST00000538941.2_5'UTR			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	214						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GGGAGCCAGACGAGGAGCTGG	0.418																																						ENST00000563290.1																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						c.(640-642)cGt>cAt		S-phase cyclin A-associated protein in the ER		C	HIS/ARG,	1,3721		0,1,1860	65.0	62.0	63.0		641,	4.8	1.0	15		63	0,8188		0,0,4094	no	missense,utr-5	SCAPER	NM_020843.2,NM_001145923.1	29,	0,1,5954	TT,TC,CC		0.0,0.0269,0.0084	probably-damaging,	214/1401,	77087752	1,11909	1861	4094	5955	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:77087752C>T	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.641G>A	15.37:g.77087752C>T	ENSP00000454973:p.Arg214His					SCAPER_ENST00000538941.2_5'UTR|SCAPER_ENST00000324767.7_Missense_Mutation_p.R214H|SCAPER_ENST00000562890.1_5'UTR	p.R214H			Q9BY12	SCAPE_HUMAN			8	736	-			213					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.641G>A	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101770	0.76983	2.69E-4	0.0	ENSG00000140386	ENST00000324767;ENST00000303521	T	0.25912	1.77	5.66	4.75	0.60458	.	0.102591	0.64402	N	0.000001	T	0.44582	0.1300	M	0.66939	2.045	0.36970	D	0.893791	D;D	0.71674	0.998;0.988	P;P	0.59288	0.855;0.646	T	0.55438	-0.8141	10	0.52906	T	0.07	.	14.509	0.67772	0.0:0.9296:0.0:0.0704	.	214;229	Q6NSF1;Q9BY12-2	.;.	H	214;230	ENSP00000326924:R214H	ENSP00000303560:R230H	R	-	2	0	SCAPER	74874807	1.000000	0.71417	0.952000	0.39060	0.868000	0.49771	3.728000	0.54991	1.411000	0.46957	-0.225000	0.12378	CGT		0.418	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843		4	58	0	0	0	1	0	4	58				
PCDHGA1	56114	broad.mit.edu	37	5	140711256	140711256	+	Silent	SNP	C	C	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:140711256C>A	ENST00000517417.1	+	1	1005	c.1005C>A	c.(1003-1005)atC>atA	p.I335I	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Silent_p.I335I	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	335	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTACTGATCAAAGTTTTGG	0.418																																						ENST00000517417.1																			0				breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(1003-1005)atC>atA									69.0	68.0	69.0					5																	140711256		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140711256C>A	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1005C>A	5.37:g.140711256C>A						PCDHGA1_ENST00000378105.3_Silent_p.I335I	p.I335I	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1005	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.1005C>A	CCDS54922.1																																																																																				0.418	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		34	58	1	0	3.86903e-22	1	4.2873e-22	34	58				
LONRF3	79836	broad.mit.edu	37	X	118123490	118123490	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:118123490C>A	ENST00000371628.3	+	4	1210	c.1179C>A	c.(1177-1179)gaC>gaA	p.D393E	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.D352E|LONRF3_ENST00000422289.2_Missense_Mutation_p.D137E	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	393							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						ACATGAAAGACCAGGAAGAAG	0.507																																						ENST00000365713.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1054-1056)gaC>gaA		LON peptidase N-terminal domain and ring finger 3							95.0	71.0	79.0					X																	118123490		2203	4300	6503	SO:0001583	missense	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118123490C>A	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1179C>A	X.37:g.118123490C>A	ENSP00000360690:p.Asp393Glu					LONRF3_ENST00000304778.7_Missense_Mutation_p.D352E|LONRF3_ENST00000371628.3_Missense_Mutation_p.D393E|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Missense_Mutation_p.D137E	p.D352E			Q496Y0	LONF3_HUMAN			3	1219	+			393					Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	c.1056C>A	CCDS35374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.065|7.065	0.567249|0.567249	0.13560|0.13560	.|.	.|.	ENSG00000175556|ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289|ENST00000439603	T;T;T;D|.	0.83591|.	-1.33;-1.33;-1.05;-1.74|.	4.04|4.04	-1.85|-1.85	0.07784|0.07784	.|.	2.427600|.	0.01257|.	N|.	0.009041|.	T|T	0.16981|0.16981	0.0408|0.0408	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.08055|.	0.002;0.003;0.001|.	T|T	0.23154|0.23154	-1.0196|-1.0196	10|5	0.07030|.	T|.	0.85|.	0.0|0.0	0.5429|0.5429	0.00648|0.00648	0.1784:0.2858:0.174:0.3618|0.1784:0.2858:0.174:0.3618	.|.	137;352;393|.	B3KUN7;Q496Y0-2;Q496Y0|.	.;.;LONF3_HUMAN|.	E|T	352;352;393;137|159	ENSP00000360691:D352E;ENSP00000307732:D352E;ENSP00000360690:D393E;ENSP00000408894:D137E|.	ENSP00000307732:D352E|.	D|P	+|+	3|1	2|0	LONRF3|LONRF3	118007518|118007518	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.019000|0.019000	0.09904|0.09904	-0.415000|-0.415000	0.07106|0.07106	-0.309000|-0.309000	0.08779|0.08779	0.513000|0.513000	0.50165|0.50165	GAC|CCA		0.507	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		4	51	1	0	0.150653	1	0.150653	4	51				
RGPD3	653489	broad.mit.edu	37	2	107029596	107029596	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr2:107029596T>C	ENST00000409886.3	-	22	5297	c.5210A>G	c.(5209-5211)aAt>aGt	p.N1737S	RGPD3_ENST00000304514.7_Missense_Mutation_p.N1737S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1737	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CAACATCGTATTTATAACAGG	0.438																																						ENST00000409886.3																			0				breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(5209-5211)aAt>aGt		RANBP2-like and GRIP domain containing 3							181.0	136.0	150.0					2																	107029596		692	1578	2270	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107029596T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.5210A>G	2.37:g.107029596T>C	ENSP00000386588:p.Asn1737Ser					RGPD3_ENST00000304514.7_Missense_Mutation_p.N1737S	p.N1737S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			22	5297	-			1737			GRIP.		B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.5210A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	11.14	1.550730	0.27739	.	.	ENSG00000153165	ENST00000541826;ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.37235	1.21;1.21	1.12	1.12	0.20585	GRIP (3);	.	.	.	.	T	0.13970	0.0338	N	0.01771	-0.73	0.24278	N	0.995219	B	0.02656	0.0	B	0.01281	0.0	T	0.19943	-1.0290	9	0.66056	D	0.02	-7.8827	6.4006	0.21636	0.0:0.0:0.0:1.0	.	1737	A6NKT7	RGPD3_HUMAN	S	111;1737;1104;1737	ENSP00000386588:N1737S;ENSP00000303659:N1737S	ENSP00000303659:N1737S	N	-	2	0	RGPD3	106396028	1.000000	0.71417	0.989000	0.46669	0.153000	0.21895	5.647000	0.67923	0.785000	0.33685	0.138000	0.15974	AAT		0.438	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		84	9	0	0	0	1	0	84	9				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	46	0	0	0	1	0	3	46				
CHST13	166012	broad.mit.edu	37	3	126261320	126261320	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr3:126261320C>T	ENST00000319340.2	+	3	975	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	309					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCGCCTCTTCCGGGACATCAG	0.692																																						ENST00000319340.2																			0				central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(925-927)Cgg>Tgg		carbohydrate (chondroitin 4) sulfotransferase 13							7.0	8.0	8.0					3																	126261320		1716	3619	5335	SO:0001583	missense	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126261320C>T	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.925C>T	3.37:g.126261320C>T	ENSP00000317404:p.Arg309Trp						p.R309W	NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	3	975	+			309					Q3SYA3|Q3SYA5	Missense_Mutation	SNP	ENST00000319340.2	37	c.925C>T	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930831	0.34096	.	.	ENSG00000180767	ENST00000319340	T	0.74632	-0.86	3.89	2.98	0.34508	.	1.142320	0.06533	U	0.741787	T	0.81678	0.4873	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	P	0.61658	0.892	T	0.77172	-0.2685	10	0.66056	D	0.02	-36.7653	5.4272	0.16433	0.1872:0.5163:0.2965:0.0	.	309	Q8NET6	CHSTD_HUMAN	W	309	ENSP00000317404:R309W	ENSP00000317404:R309W	R	+	1	2	CHST13	127744010	0.997000	0.39634	0.994000	0.49952	0.080000	0.17528	0.912000	0.28597	1.706000	0.51276	0.313000	0.20887	CGG		0.692	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889		4	13	0	0	0	1	0	4	13				
ABCA7	10347	broad.mit.edu	37	19	1056970	1056970	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:1056970G>A	ENST00000263094.6	+	34	4882	c.4651G>A	c.(4651-4653)Gcc>Acc	p.A1551T	ABCA7_ENST00000435683.2_Missense_Mutation_p.A1413T|ABCA7_ENST00000433129.1_Missense_Mutation_p.A1551T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1551					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTGTCCCGGCCAGCTTCAC	0.592																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(4651-4653)Gcc>Acc		ATP-binding cassette, sub-family A (ABC1), member 7							208.0	158.0	175.0					19																	1056970		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1056970G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4651G>A	19.37:g.1056970G>A	ENSP00000263094:p.Ala1551Thr					ABCA7_ENST00000435683.2_Missense_Mutation_p.A1413T|ABCA7_ENST00000433129.1_Missense_Mutation_p.A1551T	p.A1551T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	34	4882	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1551					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.4651G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979158	0.92982	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.82803	-1.65;-1.65	3.92	3.92	0.45320	.	.	.	.	.	D	0.92080	0.7490	M	0.90814	3.15	0.51482	D	0.999926	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93553	0.6888	9	0.62326	D	0.03	.	14.6373	0.68699	0.0:0.0:1.0:0.0	.	676;1551	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	T	1551	ENSP00000263094:A1551T;ENSP00000414062:A1551T	ENSP00000263094:A1551T	A	+	1	0	ABCA7	1007970	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.476000	0.97823	2.032000	0.59987	0.561000	0.74099	GCC		0.592	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		4	144	0	0	0	1	0	4	144				
CCDC105	126402	broad.mit.edu	37	19	15133702	15133702	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:15133702G>T	ENST00000292574.3	+	7	1353	c.1271G>T	c.(1270-1272)tGc>tTc	p.C424F		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	424						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AAGCTGCAGTGCCACATCACG	0.617																																						ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(1270-1272)tGc>tTc		coiled-coil domain containing 105							44.0	33.0	37.0					19																	15133702		2203	4299	6502	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15133702G>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1271G>T	19.37:g.15133702G>T	ENSP00000292574:p.Cys424Phe						p.C424F	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			7	1353	+			424					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.1271G>T	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	g	1.721	-0.496684	0.04291	.	.	ENSG00000160994	ENST00000292574	T	0.02323	4.34	4.0	0.557	0.17260	.	0.614946	0.15233	N	0.273324	T	0.01523	0.0049	N	0.08118	0	0.22412	N	0.999122	B	0.11235	0.004	B	0.01281	0.0	T	0.45338	-0.9268	10	0.56958	D	0.05	-3.4276	3.5917	0.07991	0.2369:0.2132:0.5499:0.0	.	424	Q8IYK2	CC105_HUMAN	F	424	ENSP00000292574:C424F	ENSP00000292574:C424F	C	+	2	0	CCDC105	14994702	1.000000	0.71417	0.936000	0.37596	0.200000	0.23975	1.649000	0.37281	0.424000	0.26061	0.479000	0.44913	TGC		0.617	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		9	14	1	0	3.09899e-07	1	3.25791e-07	9	14				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	44	0	0	0	1	0	3	44				
LRRC32	2615	broad.mit.edu	37	11	76371010	76371010	+	Silent	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr11:76371010G>A	ENST00000407242.2	-	3	1869	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.L543L|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Silent_p.L543L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	543					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TTGTTTCGCAGGTCCAGCACC	0.637																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(1627-1629)Ctg>Ttg		leucine rich repeat containing 32							48.0	46.0	46.0					11																	76371010		2200	4292	6492	SO:0001819	synonymous_variant	2615					integral to plasma membrane		g.chr11:76371010G>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.1627C>T	11.37:g.76371010G>A						LRRC32_ENST00000260061.5_Silent_p.L543L|LRRC32_ENST00000404995.1_Silent_p.L543L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	p.L543L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	1869	-			543					Q86V06	Silent	SNP	ENST00000407242.2	37	c.1627C>T	CCDS8245.1																																																																																				0.637	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		14	66	0	0	0	1	0	14	66				
GABRP	2568	broad.mit.edu	37	5	170236583	170236583	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:170236583G>A	ENST00000518525.1	+	10	1308	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	GABRP_ENST00000519598.1_Missense_Mutation_p.V282M|GABRP_ENST00000265294.4_Missense_Mutation_p.V282M|GABRP_ENST00000519385.1_Intron			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	282					signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGTGACGACCGTGTTATCAAT	0.517											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000518525.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29						c.(844-846)Gtg>Atg		gamma-aminobutyric acid (GABA) A receptor, pi							256.0	225.0	236.0					5																	170236583		2203	4300	6503	SO:0001583	missense	2568					cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:170236583G>A	U95367	CCDS4375.1, CCDS75368.1	5q35.1	2012-06-22			ENSG00000094755	ENSG00000094755		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4089	protein-coding gene	gene with protein product	"""GABA(A) receptor, pi"""	602729				9182563	Standard	NM_014211		Approved		uc003mau.3	O00591	OTTHUMG00000130443	ENST00000518525.1:c.844G>A	5.37:g.170236583G>A	ENSP00000430100:p.Val282Met		OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1883	GABRP_ENST00000519598.1_Missense_Mutation_p.V282M|GABRP_ENST00000519385.1_Intron|GABRP_ENST00000265294.4_Missense_Mutation_p.V282M	p.V282M			O00591	GBRP_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		10	1308	+	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	282					A8KA36|D3DQL2|Q32MJ1	Missense_Mutation	SNP	ENST00000518525.1	37	c.844G>A	CCDS4375.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952012	0.92660	.	.	ENSG00000094755	ENST00000518525;ENST00000265294;ENST00000519598	D;D;D	0.83914	-1.78;-1.78;-1.78	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.054853	0.64402	D	0.000001	D	0.90573	0.7045	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91316	0.5078	10	0.87932	D	0	.	18.75	0.91810	0.0:0.0:1.0:0.0	.	282	O00591	GBRP_HUMAN	M	282	ENSP00000430100:V282M;ENSP00000265294:V282M;ENSP00000430772:V282M	ENSP00000265294:V282M	V	+	1	0	GABRP	170169161	1.000000	0.71417	0.760000	0.31359	0.940000	0.58332	9.869000	0.99810	2.529000	0.85273	0.655000	0.94253	GTG		0.517	GABRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252834.3	NM_014211		79	78	0	0	0	1	0	79	78				
CDCP1	64866	broad.mit.edu	37	3	45127212	45127212	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr3:45127212T>C	ENST00000296129.1	-	9	2563	c.2429A>G	c.(2428-2430)cAt>cGt	p.H810R		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	810						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ATTGTTGGGATGGGAGAAGGT	0.552																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(2428-2430)cAt>cGt		CUB domain containing protein 1							149.0	136.0	141.0					3																	45127212		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45127212T>C	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2429A>G	3.37:g.45127212T>C	ENSP00000296129:p.His810Arg						p.H810R	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	9	2563	-			810					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.2429A>G	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573241	0.65765	.	.	ENSG00000163814	ENST00000296129	T	0.36340	1.26	5.67	5.67	0.87782	.	0.231786	0.44902	D	0.000416	T	0.44477	0.1295	M	0.67953	2.075	0.80722	D	1	P	0.45827	0.867	P	0.44897	0.463	T	0.45454	-0.9260	10	0.52906	T	0.07	.	15.9124	0.79482	0.0:0.0:0.0:1.0	.	810	Q9H5V8	CDCP1_HUMAN	R	810	ENSP00000296129:H810R	ENSP00000296129:H810R	H	-	2	0	CDCP1	45102216	1.000000	0.71417	0.995000	0.50966	0.520000	0.34377	3.826000	0.55738	2.164000	0.68074	0.460000	0.39030	CAT		0.552	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		12	140	0	0	0	1	0	12	140				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	29	0	0	0	1	0	23	29				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	2	0	0	0	1	0	42	2				
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							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)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92.0	70.0	77.0					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	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.11058322C>T												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	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	144	0	0	0	1	0	8	144				
DNM1P47	100216544	broad.mit.edu	37	15	102304770	102304770	+	RNA	SNP	C	C	T	rs62026988	byFrequency	TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr15:102304770C>T	ENST00000561463.1	+	0	12816									DNM1 pseudogene 47																		GGCACAGCGGCGTGACGAGAC	0.592																																						ENST00000561463.1																			0																																																			0							g.chr15:102304770C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304770C>T														0	12816	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	15	0	0	0	1	0	4	15				
TMCC2	9911	broad.mit.edu	37	1	205210633	205210633	+	Splice_Site	SNP	A	A	G			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr1:205210633A>G	ENST00000358024.3	+	2	597	c.208A>G	c.(208-210)Aaa>Gaa	p.K70E	TMCC2_ENST00000545499.1_5'UTR|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	70						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCCCCTTAAGAAAATCCAGCA	0.557																																						ENST00000358024.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20						c.e2-1		transmembrane and coiled-coil domain family 2							31.0	30.0	31.0					1																	205210633		2203	4300	6503	SO:0001630	splice_region_variant	9911					integral to membrane	protein binding	g.chr1:205210633A>G	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.208-1A>G	1.37:g.205210633A>G						TMCC2_ENST00000545499.1_5'UTR|TMCC2_ENST00000495538.1_3'UTR	p.K70_splice	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	597	+	Breast(84;0.0871)		70					A2RRH3|B7Z1P7|Q6ZN09	Splice_Site	SNP	ENST00000358024.3	37	c.207_splice	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	A	13.94	2.387591	0.42308	.	.	ENSG00000133069	ENST00000358024	T	0.41758	0.99	4.78	4.78	0.61160	.	0.000000	0.64402	D	0.000014	T	0.49932	0.1586	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.44267	-0.9339	9	.	.	.	.	14.2693	0.66143	1.0:0.0:0.0:0.0	.	70	O75069	TMCC2_HUMAN	E	70	ENSP00000350718:K70E	.	K	+	1	0	TMCC2	203477256	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.727000	0.74764	1.912000	0.55364	0.379000	0.24179	AAA		0.557	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1	NM_014858	Missense_Mutation	34	33	0	0	0	1	0	34	33				
FOS	2353	broad.mit.edu	37	14	75747676	75747676	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr14:75747676C>T	ENST00000303562.4	+	4	901	c.692C>T	c.(691-693)gCc>gTc	p.A231V	FOS_ENST00000555686.1_Missense_Mutation_p.A117V|FOS_ENST00000535987.1_Missense_Mutation_p.A195V|FOS_ENST00000555347.1_Missense_Mutation_p.A83V	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	231					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|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)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	CCAGAGGTTGCCACCCCGGAG	0.607																																						ENST00000303562.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(691-693)gCc>gTc		FBJ murine osteosarcoma viral oncogene homolog							69.0	73.0	72.0					14																	75747676		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD 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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75747676C>T	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.692C>T	14.37:g.75747676C>T	ENSP00000306245:p.Ala231Val					FOS_ENST00000555347.1_Missense_Mutation_p.A83V|FOS_ENST00000555686.1_Missense_Mutation_p.A117V|FOS_ENST00000535987.1_Missense_Mutation_p.A195V	p.A231V	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	4	901	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	231					A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.692C>T	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	C	5.172	0.217334	0.09810	.	.	ENSG00000170345	ENST00000303562;ENST00000535987;ENST00000555686;ENST00000555672;ENST00000555347	T;T;T	0.63255	0.55;0.92;-0.03	4.96	4.05	0.47172	.	0.756082	0.12574	N	0.456991	T	0.35393	0.0930	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.10359	-1.0633	10	0.26408	T	0.33	-7.8619	12.7371	0.57232	0.0:0.9191:0.0:0.0809	.	195;231	B4DQ65;P01100	.;FOS_HUMAN	V	231;195;117;81;83	ENSP00000306245:A231V;ENSP00000442268:A195V;ENSP00000452590:A117V	ENSP00000306245:A231V	A	+	2	0	FOS	74817429	0.007000	0.16637	0.931000	0.37212	0.510000	0.34073	1.980000	0.40618	2.459000	0.83118	0.563000	0.77884	GCC		0.607	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		4	153	0	0	0	1	0	4	153				
MRPS12	6183	broad.mit.edu	37	19	39423018	39423018	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:39423018C>T	ENST00000407800.2	+	2	436	c.95C>T	c.(94-96)aCc>aTc	p.T32I	MRPS12_ENST00000402029.3_Missense_Mutation_p.T32I|SARS2_ENST00000600042.1_5'Flank|CTC-360G5.9_ENST00000599320.1_lincRNA|MRPS12_ENST00000308018.4_Missense_Mutation_p.T32I|SARS2_ENST00000430193.3_5'Flank|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000594171.1_5'Flank|SARS2_ENST00000221431.6_5'Flank	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	32					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCCATGGCTACCCTGAACCAG	0.652																																						ENST00000407800.2																			0				endometrium(1)|large_intestine(1)	2						c.(94-96)aCc>aTc		mitochondrial ribosomal protein S12							39.0	49.0	46.0					19																	39423018		2203	4300	6503	SO:0001583	missense	6183				translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr19:39423018C>T	Y11681	CCDS12525.1	19q13.1-q13.2	2012-09-13			ENSG00000128626	ENSG00000128626		"""Mitochondrial ribosomal proteins / small subunits"""	10380	protein-coding gene	gene with protein product		603021		RPMS12		9545647, 9790755	Standard	NM_021107		Approved	RPS12, RPSM12	uc002oke.3	O15235		ENST00000407800.2:c.95C>T	19.37:g.39423018C>T	ENSP00000384952:p.Thr32Ile					MRPS12_ENST00000402029.3_Missense_Mutation_p.T32I|CTC-360G5.8_ENST00000599996.1_Intron|MRPS12_ENST00000308018.4_Missense_Mutation_p.T32I|SARS2_ENST00000448145.2_Intron	p.T32I	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		2	436	+	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		32					Q53X98	Missense_Mutation	SNP	ENST00000407800.2	37	c.95C>T	CCDS12525.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368187	0.95900	.	.	ENSG00000128626	ENST00000308018;ENST00000407800;ENST00000402029	T;T;T	0.55052	0.54;0.54;0.54	5.93	5.93	0.95920	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	H	0.97587	4.035	0.80722	D	1	D	0.69078	0.997	D	0.68039	0.955	D	0.88063	0.2795	10	0.87932	D	0	-33.7221	17.825	0.88662	0.0:1.0:0.0:0.0	.	32	O15235	RT12_HUMAN	I	32	ENSP00000308845:T32I;ENSP00000384952:T32I;ENSP00000384579:T32I	ENSP00000308845:T32I	T	+	2	0	MRPS12	44114858	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.572000	0.82409	2.797000	0.96272	0.655000	0.94253	ACC		0.652	MRPS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463154.1			6	193	0	0	0	1	0	6	193				
FBXL6	26233	broad.mit.edu	37	8	145580132	145580132	+	Silent	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr8:145580132G>A	ENST00000331890.5	-	7	1117	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Silent_p.P345P|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	351					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCCTGGTCCGGGAGCCACCC	0.652																																						ENST00000331890.5																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(1051-1053)ccC>ccT		F-box and leucine-rich repeat protein 6							37.0	42.0	41.0					8																	145580132		2203	4300	6503	SO:0001819	synonymous_variant	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145580132G>A	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1053C>T	8.37:g.145580132G>A						FBXL6_ENST00000526524.1_5'UTR|FBXL6_ENST00000455319.2_Silent_p.P345P	p.P351P	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		7	1117	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		351					Q53G43|Q9H5W9|Q9UKC7	Silent	SNP	ENST00000331890.5	37	c.1053C>T	CCDS6422.1																																																																																				0.652	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		59	58	0	0	0	1	0	59	58				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	26	0	0	0	1	0	3	26				
KRI1	65095	broad.mit.edu	37	19	10668901	10668901	+	Silent	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:10668901G>A	ENST00000312962.6	-	13	1246	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	KRI1_ENST00000537964.1_5'Flank|KRI1_ENST00000361821.5_Silent_p.D405D	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	403	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGTAGTACTCGTCCCCAAAGC	0.602																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1225-1227)gaC>gaT		KRI1 homolog (S. cerevisiae)							123.0	88.0	100.0					19																	10668901		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10668901G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1227C>T	19.37:g.10668901G>A						KRI1_ENST00000361821.5_Silent_p.D405D	p.D409D	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		13	1246	-			409			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.1227C>T	CCDS12242.1																																																																																				0.602	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		20	66	0	0	0	1	0	20	66				
ABCB7	22	broad.mit.edu	37	X	74291461	74291461	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:74291461C>A	ENST00000373394.3	-	9	1097	c.1090G>T	c.(1090-1092)Gag>Tag	p.E364*	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000253577.3_Nonsense_Mutation_p.E365*|ABCB7_ENST00000339447.4_Nonsense_Mutation_p.E324*			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	364	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAAGCAGTCTCATACGTCTTC	0.333																																						ENST00000253577.3																			0				breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						c.(1093-1095)Gag>Tag		ATP-binding cassette, sub-family B (MDR/TAP), member 7							106.0	87.0	94.0					X																	74291461		2203	4300	6503	SO:0001587	stop_gained	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74291461C>A	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1090G>T	X.37:g.74291461C>A	ENSP00000362492:p.Glu364*					ABCB7_ENST00000339447.4_Nonsense_Mutation_p.E324*|ABCB7_ENST00000373394.3_Nonsense_Mutation_p.E364*|ABCB7_ENST00000534570.1_5'UTR	p.E365*	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN			9	1117	-			364			ABC transmembrane type-1.		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Nonsense_Mutation	SNP	ENST00000373394.3	37	c.1093G>T		.	.	.	.	.	.	.	.	.	.	C	38	6.935114	0.97948	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	.	.	.	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.5282	15.9726	0.80031	0.0:1.0:0.0:0.0	.	.	.	.	X	338;365;324;364;338	.	ENSP00000253577:E365X	E	-	1	0	ABCB7	74208186	1.000000	0.71417	0.947000	0.38551	0.931000	0.56810	7.487000	0.81328	1.961000	0.56991	0.600000	0.82982	GAG		0.333	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299		23	38	1	0	1.50039e-11	1	1.61884e-11	23	38				
PABPC1L	80336	broad.mit.edu	37	20	43559296	43559296	+	Missense_Mutation	SNP	C	C	T	rs200290235		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr20:43559296C>T	ENST00000217073.2	+	8	1168	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000372824.1_5'Flank|PABPC1L_ENST00000372819.1_5'Flank|PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000255136.3_Missense_Mutation_p.R390W|PABPC1L_ENST00000537323.1_3'UTR			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	390					mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CTCCACCATGCGGACCCTGAG	0.647																																						ENST00000255136.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(1168-1170)Cgg>Tgg		poly(A) binding protein, cytoplasmic 1-like		C	TRP/ARG	1,3135		0,1,1567	185.0	176.0	179.0		1168	3.2	1.0	20		179	0,7164		0,0,3582	yes	missense	PABPC1L	NM_001124756.1	101	0,1,5149	TT,TC,CC		0.0,0.0319,0.0097	benign	390/615	43559296	1,10299	1568	3582	5150	SO:0001583	missense	80336						nucleotide binding|RNA binding	g.chr20:43559296C>T	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1168C>T	20.37:g.43559296C>T	ENSP00000217073:p.Arg390Trp					PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000217073.2_Missense_Mutation_p.R390W|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217074.4_3'UTR	p.R390W	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN			8	1250	+			390					Q4VY17	Missense_Mutation	SNP	ENST00000217073.2	37	c.1168C>T	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811592	0.32053	3.19E-4	0.0	ENSG00000101104	ENST00000255136;ENST00000217073	T;T	0.19105	2.17;2.17	5.14	3.17	0.36434	.	0.101238	0.64402	N	0.000004	T	0.22820	0.0551	M	0.77313	2.365	0.80722	D	1	B	0.27068	0.167	B	0.23419	0.046	T	0.10428	-1.0630	10	0.87932	D	0	.	5.7249	0.18008	0.2481:0.5846:0.0:0.1673	.	390	Q4VXU2	PAP1L_HUMAN	W	390	ENSP00000255136:R390W;ENSP00000217073:R390W	ENSP00000217073:R390W	R	+	1	2	PABPC1L	42992710	1.000000	0.71417	0.981000	0.43875	0.495000	0.33615	1.493000	0.35605	1.151000	0.42436	0.655000	0.94253	CGG		0.647	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			8	389	0	0	0	1	0	8	389				
CYP39A1	51302	broad.mit.edu	37	6	46518143	46518143	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr6:46518143G>A	ENST00000275016.2	-	12	1573	c.1370C>T	c.(1369-1371)cCg>cTg	p.P457L		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	457					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TTGCCCTTCCGGCTGGGGGAC	0.458																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(1369-1371)cCg>cTg		cytochrome P450, family 39, subfamily A, polypeptide 1							109.0	114.0	112.0					6																	46518143		2203	4300	6503	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46518143G>A	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1370C>T	6.37:g.46518143G>A	ENSP00000275016:p.Pro457Leu						p.P457L	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			12	1573	-			457					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.1370C>T	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473321	0.84640	.	.	ENSG00000146233	ENST00000275016	D	0.86497	-2.13	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92667	0.6146	10	0.59425	D	0.04	-13.5126	15.5954	0.76574	0.0:0.0:1.0:0.0	.	437;457	B7Z786;Q9NYL5	.;CP39A_HUMAN	L	457	ENSP00000275016:P457L	ENSP00000275016:P457L	P	-	2	0	CYP39A1	46626102	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.743000	0.62110	2.767000	0.95098	0.655000	0.94253	CCG		0.458	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			18	38	0	0	0	1	0	18	38				
SPATA31A6	389730	broad.mit.edu	37	9	43625420	43625420	+	Silent	SNP	A	A	G			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr9:43625420A>G	ENST00000332857.6	-	4	3295	c.3267T>C	c.(3265-3267)tgT>tgC	p.C1089C	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1089					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ATGAGCCTTGACAGTTTGGGT	0.507																																						ENST00000332857.6																			0											c.(3265-3267)tgT>tgC		SPATA31 subfamily A, member 6							12.0	11.0	11.0					9																	43625420		605	1514	2119	SO:0001819	synonymous_variant	389730							g.chr9:43625420A>G		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3267T>C	9.37:g.43625420A>G							p.C1089C	NM_001145196.1	NP_001138668.1					4	3295	-									Silent	SNP	ENST00000332857.6	37	c.3267T>C	CCDS47973.1																																																																																				0.507	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		143	185	0	0	0	1	0	143	185				
MEGF10	84466	broad.mit.edu	37	5	126776527	126776527	+	Missense_Mutation	SNP	G	G	A	rs565304206	byFrequency	TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:126776527G>A	ENST00000274473.6	+	19	2597	c.2330G>A	c.(2329-2331)cGc>cAc	p.R777H	MEGF10_ENST00000503335.2_Missense_Mutation_p.R777H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	777	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGTACTTGCCGCACTGGATTC	0.468													G|||	4	0.000798722	0.0008	0.0014	5008	,	,		21967	0.0		0.0	False		,,,				2504	0.002					ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(2329-2331)cGc>cAc		multiple EGF-like-domains 10							146.0	131.0	136.0					5																	126776527		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126776527G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2330G>A	5.37:g.126776527G>A	ENSP00000274473:p.Arg777His					MEGF10_ENST00000503335.2_Missense_Mutation_p.R777H	p.R777H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	19	2597	+		Prostate(80;0.165)	777			EGF-like 14.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.2330G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	34	5.326208	0.95708	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	T;T	0.29397	1.57;1.57	6.03	6.03	0.97812	EGF-like, laminin (2);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42378	-0.9455	10	0.42905	T	0.14	-41.3444	20.5752	0.99366	0.0:0.0:1.0:0.0	.	777	Q96KG7	MEG10_HUMAN	H	777	ENSP00000423354:R777H;ENSP00000274473:R777H	ENSP00000274473:R777H	R	+	2	0	MEGF10	126804426	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	CGC		0.468	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		4	122	0	0	0	1	0	4	122				
OR2B11	127623	broad.mit.edu	37	1	247614765	247614765	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr1:247614765C>T	ENST00000318749.6	-	1	543	c.520G>A	c.(520-522)Ggg>Agg	p.G174R		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G174R(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACCTGCCGCCCGCAGAATGGC	0.597																																						ENST00000318749.6																			1	Substitution - Missense(1)	p.G174R(1)	large_intestine(1)	endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(520-522)Ggg>Agg		olfactory receptor, family 2, subfamily B, member 11							56.0	54.0	55.0					1																	247614765		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614765C>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.520G>A	1.37:g.247614765C>T	ENSP00000325682:p.Gly174Arg						p.G174R	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	543	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	174					B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.520G>A	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358078	0.41801	.	.	ENSG00000177535	ENST00000318749	T	0.38560	1.13	4.96	4.96	0.65561	GPCR, rhodopsin-like superfamily (1);	0.115109	0.39146	N	0.001459	T	0.52008	0.1708	M	0.69823	2.125	0.36284	D	0.855947	D	0.62365	0.991	P	0.51742	0.678	T	0.64398	-0.6417	10	0.72032	D	0.01	.	11.7395	0.51784	0.0:0.8223:0.1777:0.0	.	174	Q5JQS5	OR2BB_HUMAN	R	174	ENSP00000325682:G174R	ENSP00000325682:G174R	G	-	1	0	OR2B11	245681388	0.000000	0.05858	0.903000	0.35520	0.010000	0.07245	0.084000	0.14891	2.749000	0.94314	0.551000	0.68910	GGG		0.597	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		4	52	0	0	0	1	0	4	52				
LDHAL6B	92483	broad.mit.edu	37	15	59499792	59499792	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr15:59499792G>A	ENST00000307144.4	+	1	751	c.653G>A	c.(652-654)cGt>cAt	p.R218H	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	218					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GATACTGCTCGTTTTCGTTTC	0.438																																						ENST00000307144.4																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(652-654)cGt>cAt		lactate dehydrogenase A-like 6B	NADH(DB00157)						83.0	85.0	85.0					15																	59499792		2191	4290	6481	SO:0001583	missense	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499792G>A	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.653G>A	15.37:g.59499792G>A	ENSP00000302393:p.Arg218His					MYO1E_ENST00000288235.4_Intron	p.R218H	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN			1	751	+			218					Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	c.653G>A	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.978345	0.74360	.	.	ENSG00000171989	ENST00000307144	D	0.90676	-2.71	1.69	1.69	0.24217	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.64402	U	0.000002	D	0.95604	0.8571	H	0.94222	3.51	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.94790	0.7961	10	0.87932	D	0	.	8.9167	0.35585	0.0:0.0:1.0:0.0	.	218	Q9BYZ2	LDH6B_HUMAN	H	218	ENSP00000302393:R218H	ENSP00000302393:R218H	R	+	2	0	LDHAL6B	57287084	1.000000	0.71417	0.003000	0.11579	0.541000	0.35023	6.111000	0.71541	0.933000	0.37291	0.305000	0.20034	CGT		0.438	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195		5	124	0	0	0	1	0	5	124				
LINC00202-1	387644	broad.mit.edu	37	10	27223577	27223579	+	lincRNA	DEL	AAT	AAT	-	rs35951564		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr10:27223577_27223579delAAT	ENST00000431296.1	-	0	3159					NR_026795.1				long intergenic non-protein coding RNA 202-1																		TCTTACaaaaaataaataaataa	0.305																																						ENST00000431296.1																			0																																																			0							g.chr10:27223577_27223579delAAT	AK097405		10p12.1	2012-12-18	2012-12-18	2012-12-18	ENSG00000232224	ENSG00000232224		"""Long non-coding RNAs"""	24672	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 51"", ""non-protein coding RNA 202"", ""long intergenic non-protein coding RNA 202"""	C10orf51, NCRNA00202, LINC00202			Standard	NR_026795		Approved	bB27G4.1	uc001itf.2		OTTHUMG00000017849		10.37:g.27223577_27223579delAAT								NR_026795.1						0	3159	-									RNA	DEL	ENST00000431296.1	37																																																																																						0.305	LINC00202-1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047293.1	NR_026795		2	4						2	4	---	---	---	---
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-	rs564151103	byFrequency	TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		7	104						7	104	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(631-636)cgg>cg		CD3e molecule, epsilon associated protein			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del	p.RK211del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	211					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		7	200						7	200	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr22:38119882_38119884delCCT	ENST00000406386.3	+	7	1574_1576	c.1319_1321delCCT	c.(1318-1323)gcctcc>gcc	p.S442del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	442					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1318-1323)gcc>g		TRIO and F-actin binding protein				8,3622		3,2,1810						-5.6	0.0			78	10,7846		3,4,3921	no	coding	TRIOBP	NM_001039141.2		6,6,5731	A1A1,A1R,RR		0.1273,0.2204,0.1567				18,11468				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119882_38119884delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1319_1321delCCT	22.37:g.38119885_38119887delCCT	ENSP00000384312:p.Ser442del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS440del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1574_1576	+	Melanoma(58;0.0574)		440					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1319_1321delCCT	CCDS43015.1																																																																																				0.601	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			8	196						8	196	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939758	76939762	+	Frame_Shift_Del	DEL	TTTCT	TTTCT	-			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:76939758_76939762delTTTCT	ENST00000373344.5	-	9	1200_1204	c.986_990delAGAAA	c.(985-990)aagaaafs	p.KK329fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KK291fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	329					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATCATCTAATTTCTTTTCTTCTCC	0.341			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(985-990)afs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939758_76939762delTTTCT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.986_990delAGAAA	X.37:g.76939763_76939767delTTTCT	ENSP00000362441:p.Lys329fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KK291fs	p.KK329fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1200_1204	-			329					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.986_990delAGAAA	CCDS14434.1																																																																																				0.341	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		23	38						23	38	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151870011	151870011	+	Frame_Shift_Del	DEL	G	G	-			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:151870011delG	ENST00000329342.5	+	3	926	c.701delG	c.(700-702)aggfs	p.R234fs		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	234	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAGGGGAGGGAAGACAGT	0.532																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(700-702)agfs		melanoma antigen family A, 6							163.0	157.0	159.0					X																	151870011		2202	4300	6502	SO:0001589	frameshift_variant	4105						protein binding	g.chrX:151870011delG		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.701delG	X.37:g.151870011delG	ENSP00000329199:p.Arg234fs						p.R234fs	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	926	+	Acute lymphoblastic leukemia(192;6.56e-05)		234			MAGE.		A8IF93|Q6NW44	Frame_Shift_Del	DEL	ENST00000329342.5	37	c.701delG	CCDS14708.1																																																																																				0.532	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		144	218						144	218	---	---	---	---
