#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
CLASP1	23332	broad.mit.edu	37	2	122122645	122122645	+	Intron	SNP	A	A	C			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr2:122122645A>C	ENST00000263710.4	-	36	4467				CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000541859.1_Intron|CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000455322.2_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1						axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GAAAGGGGCAAGATAAGGCCA	0.473																																						uc002tnf.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47						c.(808-810)Ttg>Gtg		Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 3, mRNA.							54.0	57.0	56.0					2																	122122645		2045	4189	6234	SO:0001627	intron_variant	23332				G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122122645A>C	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4077+24T>G	2.37:g.122122645A>C						CLASP1_uc010yyv.2_Intron|CLASP1_uc002tmz.3_Intron|CLASP1_uc002tna.3_Intron|CLASP1_uc010yyw.2_Intron|CLASP1_uc002tnb.3_Intron|CLASP1_uc010yyx.2_Intron|CLASP1_uc010yyy.2_Intron|CLASP1_uc002tnc.3_Intron|CLASP1_uc010yyz.2_Intron|CLASP1_uc010yza.2_Intron|CLASP1_uc021vnl.1_Intron|CLASP1_uc010yzc.2_Intron|CLASP1_uc002tmy.3_Intron	p.L270V			Q7Z460	CLAP1_HUMAN			4	1032	-	Renal(3;0.0496)		940					B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.808T>G																																																																																					0.473	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		15	24	0	0	0	1	0	15	24				
TGM6	343641	broad.mit.edu	37	20	2380227	2380227	+	Silent	SNP	A	A	T			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr20:2380227A>T	ENST00000202625.2	+	6	754	c.693A>T	c.(691-693)cgA>cgT	p.R231R	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.R231R	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	231					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ACAACGACCGAGGTGTGGTGC	0.632																																						uc002wfy.1																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(691-693)cgA>cgT		Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	L-Glutamine(DB00130)						102.0	84.0	90.0					20																	2380227		2203	4300	6503	SO:0001819	synonymous_variant	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2380227A>T	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.693A>T	20.37:g.2380227A>T						TGM6_uc010gal.1_Silent_p.R231R	p.R231R	NM_198994	NP_945345	O95932	TGM3L_HUMAN			5	754	+			231					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	ENST00000202625.2	37	c.693A>T	CCDS13025.1																																																																																				0.632	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		33	115	0	0	0	1	0	33	115				
KRTAP6-2	337967	broad.mit.edu	37	21	31971024	31971024	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr21:31971024C>G	ENST00000334897.3	-	1	195	c.170G>C	c.(169-171)gGc>gCc	p.G57A	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	57						intermediate filament (GO:0005882)				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GTAGCCAGAGCCGCATCCATA	0.567																																						uc011adc.2																			0		p.G57S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(169-171)gGc>gCc		Homo sapiens keratin associated protein 6-2 (KRTAP6-2), mRNA.							61.0	56.0	58.0					21																	31971024		2203	4300	6503	SO:0001583	missense	337967					intermediate filament		g.chr21:31971024C>G	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"""Keratin associated proteins"""	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.170G>C	21.37:g.31971024C>G	ENSP00000334560:p.Gly57Ala					KRTAP22-1_uc011add.2_5'Flank	p.G57A	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN			0	170	-			57						Missense_Mutation	SNP	ENST00000334897.3	37	c.170G>C	CCDS13600.1	.	.	.	.	.	.	.	.	.	.	C	4.847	0.157424	0.09236	.	.	ENSG00000186930	ENST00000334897	T	0.20200	2.09	4.36	4.36	0.52297	.	0.242264	0.22073	U	0.065019	T	0.43277	0.1240	.	.	.	0.21184	N	0.999764	D	0.76494	0.999	D	0.91635	0.999	T	0.14559	-1.0468	9	0.87932	D	0	.	12.7069	0.57065	0.0:1.0:0.0:0.0	.	57	Q3LI66	KRA62_HUMAN	A	57	ENSP00000334560:G57A	ENSP00000334560:G57A	G	-	2	0	KRTAP6-2	30892895	0.051000	0.20477	0.450000	0.26969	0.079000	0.17450	0.948000	0.29096	2.716000	0.92895	0.650000	0.86243	GGC		0.567	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			16	43	0	0	0	1	0	16	43				
SMARCA5	8467	broad.mit.edu	37	4	144467147	144467147	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr4:144467147G>C	ENST00000283131.3	+	19	2929	c.2467G>C	c.(2467-2469)Gct>Cct	p.A823P		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	823					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATTGATGAAGCTGAATCCCT	0.358																																						uc003ijg.3																		EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2467-2469)Gct>Cct		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.							83.0	86.0	85.0					4																	144467147		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144467147G>C	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2467G>C	4.37:g.144467147G>C	ENSP00000283131:p.Ala823Pro						p.A823P	NM_003601	NP_003592	O60264	SMCA5_HUMAN			18	2929	+	all_hematologic(180;0.158)		823						Missense_Mutation	SNP	ENST00000283131.3	37	c.2467G>C	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999194	0.93227	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91740	-2.9	5.3	5.3	0.74995	ATPase, nucleosome remodelling ISWI, HAND domain (2);	0.000000	0.85682	D	0.000000	D	0.93419	0.7901	M	0.85299	2.745	0.80722	D	1	B	0.24675	0.109	B	0.29942	0.109	D	0.91230	0.5013	10	0.39692	T	0.17	-5.3827	19.336	0.94319	0.0:0.0:1.0:0.0	.	823	O60264	SMCA5_HUMAN	P	823;766;766	ENSP00000283131:A823P	ENSP00000283131:A823P	A	+	1	0	SMARCA5	144686597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.168000	0.94781	2.643000	0.89663	0.655000	0.94253	GCT		0.358	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3			29	44	0	0	0	1	0	29	44				
LRRC43	254050	broad.mit.edu	37	12	122687921	122687921	+	Missense_Mutation	SNP	G	G	A	rs538569275		TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr12:122687921G>A	ENST00000339777.4	+	12	1931	c.1903G>A	c.(1903-1905)Gta>Ata	p.V635I	B3GNT4_ENST00000535274.1_5'Flank|LRRC43_ENST00000425921.1_Missense_Mutation_p.V450I|B3GNT4_ENST00000324189.4_5'Flank|B3GNT4_ENST00000546192.1_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	635										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCCCCTGACCGTAGAGGTGCA	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		11892	0.0		0.0	False		,,,				2504	0.0					uc009zxm.3																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19						c.(1903-1905)Gta>Ata		Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.							74.0	81.0	79.0					12																	122687921		2001	4178	6179	SO:0001583	missense	254050							g.chr12:122687921G>A	AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1903G>A	12.37:g.122687921G>A	ENSP00000344233:p.Val635Ile					LRRC43_uc001ubw.4_Missense_Mutation_p.V450I|LRRC43_uc009zxn.3_Missense_Mutation_p.V396I|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	p.V635I	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)	11	1928	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		635					Q6ZVT9	Missense_Mutation	SNP	ENST00000339777.4	37	c.1903G>A	CCDS45001.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007965	0.54361	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.65178	-0.14;0.34	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000007	T	0.77864	0.4194	M	0.74881	2.28	0.37340	D	0.910357	D	0.89917	1.0	D	0.71656	0.974	T	0.83041	-0.0157	10	0.66056	D	0.02	-42.254	15.2885	0.73849	0.0:0.0:1.0:0.0	.	635	Q8N309	LRC43_HUMAN	I	635;506;450	ENSP00000344233:V635I;ENSP00000416628:V450I	ENSP00000289014:V506I	V	+	1	0	LRRC43	121253874	0.997000	0.39634	0.992000	0.48379	0.036000	0.12997	2.964000	0.49192	2.433000	0.82419	0.561000	0.74099	GTA		0.592	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759		4	98	0	0	0	1	0	4	98				
MMP8	4317	broad.mit.edu	37	11	102584153	102584153	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr11:102584153C>A	ENST00000236826.3	-	10	1428	c.1330G>T	c.(1330-1332)Gca>Tca	p.A444S		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	444					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	AGATCAAATGCGTAATATCTT	0.343																																						uc001phe.2																			0				autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(1330-1332)Gca>Tca		Homo sapiens matrix metallopeptidase 8 (neutrophil collagenase) (MMP8), mRNA.							160.0	139.0	146.0					11																	102584153		2203	4299	6502	SO:0001583	missense	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102584153C>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.1330G>T	11.37:g.102584153C>A	ENSP00000236826:p.Ala444Ser					MMP8_uc010rut.1_3'UTR|MMP8_uc010ruu.1_Missense_Mutation_p.A421S	p.A444S	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	9	1429	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	444			Hemopexin-like 4.		Q45F99	Missense_Mutation	SNP	ENST00000236826.3	37	c.1330G>T	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754916	0.31046	.	.	ENSG00000118113	ENST00000236826;ENST00000544383	T	0.13538	2.58	5.44	3.22	0.36961	Hemopexin/matrixin (2);	0.386473	0.22269	N	0.062295	T	0.13200	0.0320	L	0.44542	1.39	0.21499	N	0.999661	P;B	0.40197	0.706;0.297	B;B	0.40741	0.339;0.339	T	0.10109	-1.0644	10	0.72032	D	0.01	.	8.6612	0.34093	0.0:0.7985:0.0:0.2015	.	444;444	A8K9E4;P22894	.;MMP8_HUMAN	S	444;421	ENSP00000236826:A444S	ENSP00000236826:A444S	A	-	1	0	MMP8	102089363	0.040000	0.19996	0.847000	0.33407	0.216000	0.24613	0.119000	0.15626	1.290000	0.44636	0.563000	0.77884	GCA		0.343	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		3	97	0	0	0	1	0	3	97				
HID1	283987	broad.mit.edu	37	17	72951961	72951961	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr17:72951961G>C	ENST00000425042.2	-	13	1639	c.1562C>G	c.(1561-1563)tCt>tGt	p.S521C		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	521					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											CTGGGCGGCAGAGAAGAGGAA	0.572																																						uc002jmj.4																			0				endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17						c.(1561-1563)tCt>tGt		Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.							148.0	135.0	139.0					17																	72951961		2203	4300	6503	SO:0001583	missense	283987					integral to membrane|plasma membrane	protein binding	g.chr17:72951961G>C		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1562C>G	17.37:g.72951961G>C	ENSP00000413520:p.Ser521Cys					C17orf28_uc002jmi.3_5'Flank|C17orf28_uc010wrs.2_Missense_Mutation_p.S320C	p.S521C	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN			12	1711	-	all_lung(278;0.151)|Lung NSC(278;0.185)		521					Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.1562C>G	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297567	0.81025	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	5.1	5.1	0.69264	.	0.118146	0.64402	D	0.000015	D	0.84991	0.5595	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.88203	0.2885	9	0.87932	D	0	-9.2117	18.4905	0.90844	0.0:0.0:1.0:0.0	.	521	Q8IV36	CQ028_HUMAN	C	293;521;293	.	ENSP00000317795:S293C	S	-	2	0	C17orf28	70463556	1.000000	0.71417	0.918000	0.36340	0.725000	0.41563	7.587000	0.82613	2.349000	0.79799	0.650000	0.86243	TCT		0.572	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		37	86	0	0	0	1	0	37	86				
ZIC2	7546	broad.mit.edu	37	13	100637890	100637890	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr13:100637890G>T	ENST00000376335.3	+	3	1846	c.1553G>T	c.(1552-1554)gGg>gTg	p.G518V		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	518					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ggGACAGCCGGGGGTCACAGC	0.771																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1552-1554)gGg>gTg		Homo sapiens Zic family member 2 (ZIC2), mRNA.							9.0	11.0	10.0					13																	100637890		1680	3665	5345	SO:0001583	missense	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637890G>T	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1553G>T	13.37:g.100637890G>T	ENSP00000365514:p.Gly518Val						p.G518V	NM_007129	NP_009060	O95409	ZIC2_HUMAN			2	1846	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		518					Q5VYA9|Q9H309	Missense_Mutation	SNP	ENST00000376335.3	37	c.1553G>T	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439581	0.43326	.	.	ENSG00000043355	ENST00000376335	D	0.96459	-4.02	3.69	3.69	0.42338	.	0.000000	0.49305	D	0.000157	D	0.94915	0.8356	L	0.34521	1.04	0.54753	D	0.999986	D	0.69078	0.997	P	0.52386	0.697	D	0.95003	0.8145	10	0.54805	T	0.06	.	14.5095	0.67774	0.0:0.0:1.0:0.0	.	518	O95409	ZIC2_HUMAN	V	518	ENSP00000365514:G518V	ENSP00000365514:G518V	G	+	2	0	ZIC2	99435891	0.995000	0.38212	0.977000	0.42913	0.995000	0.86356	-0.229000	0.09098	2.041000	0.60428	0.462000	0.41574	GGG		0.771	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		9	23	0	0	0	1	0	9	23				
MAGEA3	4102	broad.mit.edu	37	X	151935879	151935879	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chrX:151935879G>T	ENST00000393902.3	-	3	855	c.288C>A	c.(286-288)agC>agA	p.S96R	MAGEA3_ENST00000370278.3_Missense_Mutation_p.S96R			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	96										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGGAAGGTGCTTGGCCCCT	0.577																																						uc004fgp.3																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15						c.(286-288)agC>agA		Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.							108.0	98.0	102.0					X																	151935879		2203	4290	6493	SO:0001583	missense	4102							g.chrX:151935879G>T		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.288C>A	X.37:g.151935879G>T	ENSP00000377480:p.Ser96Arg					MAGEA3_uc022chl.1_Missense_Mutation_p.S96R	p.S96R	NM_005362	NP_005353	P43357	MAGA3_HUMAN			2	497	-	Acute lymphoblastic leukemia(192;6.56e-05)		96					Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.288C>A	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	g	3.601	-0.081475	0.07141	.	.	ENSG00000221867	ENST00000370278;ENST00000393902;ENST00000417212	T;T;T	0.06371	3.31;3.31;3.31	0.743	-0.266	0.12942	Melanoma associated antigen, MAGE, N-terminal (1);	1.143810	0.06455	N	0.728450	T	0.08537	0.0212	M	0.63428	1.95	0.09310	N	1	B	0.14805	0.011	B	0.23716	0.048	T	0.43130	-0.9410	9	0.38643	T	0.18	.	.	.	.	.	96	P43357	MAGA3_HUMAN	R	96	ENSP00000359301:S96R;ENSP00000377480:S96R;ENSP00000392758:S96R	ENSP00000359301:S96R	S	-	3	2	MAGEA3	151686535	0.001000	0.12720	0.006000	0.13384	0.034000	0.12701	0.418000	0.21230	-0.176000	0.10707	0.358000	0.22013	AGC		0.577	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		5	148	0	0	0	1	0	5	148				
IL33	90865	broad.mit.edu	37	9	6251164	6251164	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr9:6251164T>C	ENST00000381434.3	+	3	255	c.242T>C	c.(241-243)gTa>gCa	p.V81A	IL33_ENST00000456383.2_Missense_Mutation_p.V81A|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	81	Interaction with RELA. {ECO:0000250}.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AGACATCTGGTACTCGCTGCC	0.468																																						uc003zjt.3																			0				breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16						c.(241-243)gTa>gCa		Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.							173.0	135.0	148.0					9																	6251164		2203	4300	6503	SO:0001583	missense	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6251164T>C	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.242T>C	9.37:g.6251164T>C	ENSP00000370842:p.Val81Ala					IL33_uc011lmg.2_Missense_Mutation_p.V81A|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Intron	p.V81A	NM_033439	NP_254274	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	3	320	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	81					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	c.242T>C	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	T	7.617	0.676077	0.14841	.	.	ENSG00000137033	ENST00000456383;ENST00000381434	T;T	0.40225	1.04;1.04	3.17	-2.35	0.06684	.	4.389550	0.00357	N	0.000038	T	0.27524	0.0676	N	0.21097	0.63	0.09310	N	1	B;B	0.20550	0.046;0.017	B;B	0.15484	0.013;0.007	T	0.12344	-1.0551	10	0.41790	T	0.15	5.7744	4.1976	0.10450	0.0:0.4287:0.212:0.3592	.	81;81	B4E1Q9;O95760	.;IL33_HUMAN	A	81	ENSP00000414238:V81A;ENSP00000370842:V81A	ENSP00000370842:V81A	V	+	2	0	IL33	6241164	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.583000	0.05807	-0.486000	0.06744	-0.417000	0.06048	GTA		0.468	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		3	66	0	0	0	1	0	3	66				
TRANK1	9881	broad.mit.edu	37	3	36873948	36873948	+	Missense_Mutation	SNP	T	T	C	rs201976066		TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr3:36873948T>C	ENST00000429976.2	-	21	7241	c.6994A>G	c.(6994-6996)Aga>Gga	p.R2332G	TRANK1_ENST00000301807.6_Missense_Mutation_p.R1782G|TRANK1_ENST00000428977.2_Missense_Mutation_p.R1782G	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2332							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGCTGCCTCTCCCCCTGCCC	0.507																																						uc003cgj.3																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(6994-6996)Aga>Gga		Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.							117.0	119.0	118.0					3																	36873948		1918	4122	6040	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873948T>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6994A>G	3.37:g.36873948T>C	ENSP00000416168:p.Arg2332Gly						p.R2332G	NM_014831	NP_055646	O15050	TRNK1_HUMAN			20	7242	-			2332					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.6994A>G	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	3.576	-0.086656	0.07097	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.34072	1.38;1.78;1.38	5.16	-2.15	0.07102	.	0.178818	0.26696	N	0.022979	T	0.23171	0.0560	L	0.29908	0.895	0.09310	N	1	B	0.23937	0.094	B	0.21917	0.037	T	0.28964	-1.0027	10	0.54805	T	0.06	.	11.3034	0.49320	0.0:0.0721:0.5657:0.3622	.	2332	O15050	TRNK1_HUMAN	G	1782;2332;1782	ENSP00000416826:R1782G;ENSP00000416168:R2332G;ENSP00000301807:R1782G	ENSP00000301807:R1782G	R	-	1	2	TRANK1	36848952	0.000000	0.05858	0.000000	0.03702	0.293000	0.27360	0.313000	0.19415	0.021000	0.15133	0.459000	0.35465	AGA		0.507	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		3	109	0	0	0	1	0	3	109				
UPF1	5976	broad.mit.edu	37	19	18960960	18960960	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr19:18960960G>A	ENST00000599848.1	+	4	747	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	UPF1_ENST00000262803.5_Missense_Mutation_p.V180I|UPF1_ENST00000600310.1_3'UTR			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	180	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GGGGGAGACAGTCCTGGAGTG	0.562																																						uc002nkg.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(538-540)Gtc>Atc		Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.							105.0	100.0	101.0					19																	18960960		2203	4300	6503	SO:0001583	missense	5976				DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding	g.chr19:18960960G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.538G>A	19.37:g.18960960G>A	ENSP00000470142:p.Val180Ile					UPF1_uc002nkf.3_Missense_Mutation_p.V180I	p.V180I	NM_002911	NP_002902	Q92900	RENT1_HUMAN			3	813	+			180			Sufficient for interaction with RENT2.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.538G>A		.	.	.	.	.	.	.	.	.	.	G	12.22	1.872541	0.33069	.	.	ENSG00000005007	ENST00000262803	D	0.89617	-2.54	4.45	3.37	0.38596	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	T	0.80874	0.4707	L	0.28649	0.875	0.58432	D	0.999997	B;B	0.12013	0.005;0.002	B;B	0.13407	0.009;0.005	T	0.71915	-0.4448	10	0.13853	T	0.58	-42.3634	12.7278	0.57180	0.0:0.0:0.8339:0.1661	.	180;180	Q92900;Q92900-2	RENT1_HUMAN;.	I	180	ENSP00000262803:V180I	ENSP00000262803:V180I	V	+	1	0	UPF1	18821960	1.000000	0.71417	0.068000	0.19968	0.993000	0.82548	9.429000	0.97481	0.932000	0.37266	0.591000	0.81541	GTC		0.562	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		3	126	0	0	0	1	0	3	126				
PHEX	5251	broad.mit.edu	37	X	22108574	22108574	+	Missense_Mutation	SNP	G	G	A	rs376291775		TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chrX:22108574G>A	ENST00000379374.4	+	6	1256	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	PHEX_ENST00000537599.1_Missense_Mutation_p.V231M|PHEX_ENST00000535894.1_Missense_Mutation_p.V134M	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	231					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTCCCTGGCCGTGAGGGAAGA	0.428													G|||	1	0.000264901	0.0008	0.0	3775	,	,		14999	0.0		0.0	False		,,,				2504	0.0					uc004dah.3																			0		p.A230A(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(691-693)Gtg>Atg		Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.		G	MET/VAL	1,3834		0,1,1631,571	136.0	101.0	113.0		691	5.8	1.0	X		113	0,6728		0,0,2428,1872	no	missense	PHEX	NM_000444.4	21	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging	231/750	22108574	1,10562	2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22108574G>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.691G>A	X.37:g.22108574G>A	ENSP00000368682:p.Val231Met					PHEX_uc011mjr.2_Missense_Mutation_p.V231M|PHEX_uc011mjs.2_Missense_Mutation_p.V134M	p.V231M	NM_000444	NP_000435	P78562	PHEX_HUMAN			5	894	+			231					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.691G>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803306	0.50315	2.61E-4	0.0	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	D;D;D	0.81908	-1.55;-1.55;-1.55	5.78	5.78	0.91487	Peptidase M13 (1);	0.108534	0.64402	D	0.000007	T	0.76485	0.3994	N	0.08118	0	0.80722	D	1	D;D	0.63046	0.989;0.992	B;P	0.52598	0.36;0.703	T	0.81455	-0.0925	10	0.87932	D	0	.	12.8891	0.58061	0.0:0.0:0.7223:0.2777	.	231;231	F5GXU4;P78562	.;PHEX_HUMAN	M	231;231;134	ENSP00000368682:V231M;ENSP00000440362:V231M;ENSP00000439418:V134M	ENSP00000368682:V231M	V	+	1	0	PHEX	22018495	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	4.089000	0.57685	2.429000	0.82318	0.513000	0.50165	GTG		0.428	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		3	107	0	0	0	1	0	3	107				
FAM129B	64855	broad.mit.edu	37	9	130270798	130270798	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr9:130270798T>C	ENST00000373312.3	-	11	1550	c.1337A>G	c.(1336-1338)tAt>tGt	p.Y446C	FAM129B_ENST00000373314.3_Missense_Mutation_p.Y433C|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	446					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTCGAACGTATACACGGCATT	0.637																																						uc004brh.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1336-1338)tAt>tGt		Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.							147.0	140.0	142.0					9																	130270798		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130270798T>C	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1337A>G	9.37:g.130270798T>C	ENSP00000362409:p.Tyr446Cys					FAM129B_uc004bri.3_Missense_Mutation_p.Y433C|FAM129B_uc004brj.4_Missense_Mutation_p.Y446C	p.Y446C	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN			10	1539	-			446					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.1337A>G	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.041419	0.75732	.	.	ENSG00000136830	ENST00000373314;ENST00000538931;ENST00000373312	T;T	0.36520	1.26;1.25	5.36	5.36	0.76844	.	0.056587	0.64402	D	0.000001	T	0.58481	0.2125	M	0.73217	2.22	0.54753	D	0.999988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.61048	-0.7141	10	0.54805	T	0.06	-32.8097	13.2945	0.60288	0.0:0.0:0.0:1.0	.	96;433;446	F5H3T0;Q96TA1-2;Q96TA1	.;.;NIBL1_HUMAN	C	433;96;446	ENSP00000362411:Y433C;ENSP00000362409:Y446C	ENSP00000362409:Y446C	Y	-	2	0	FAM129B	129310619	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.357000	0.44125	2.025000	0.59659	0.459000	0.35465	TAT		0.637	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		13	222	0	0	0	1	0	13	222				
MANEA	79694	broad.mit.edu	37	6	96034277	96034277	+	Splice_Site	SNP	G	G	A			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr6:96034277G>A	ENST00000358812.4	+	2	96		c.e2-1		MANEA_ENST00000369293.1_Splice_Site	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ATAAATTGCAGCAAAACACTT	0.274																																						uc003poo.2																			0				breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.e2-1		Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.							81.0	82.0	81.0					6																	96034277		2203	4300	6503	SO:0001630	splice_region_variant	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96034277G>A	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.-38-1G>A	6.37:g.96034277G>A						MANEA_uc003pon.3_Splice_Site		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	2	143	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)						A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Splice_Site	SNP	ENST00000358812.4	37	c.-37_splice	CCDS5032.1																																																																																				0.274	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641	Intron	3	73	0	0	0	1	0	3	73				
C4BPA	722	broad.mit.edu	37	1	207317265	207317265	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr1:207317265G>A	ENST00000367070.3	+	11	1741	c.1547G>A	c.(1546-1548)gGt>gAt	p.G516D		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	516	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCTGGCTATGGTGTGGTTGGT	0.473																																						uc001hfo.3																			0		p.Y515*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1546-1548)gGt>gAt		Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.							217.0	188.0	198.0					1																	207317265		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207317265G>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1547G>A	1.37:g.207317265G>A	ENSP00000356037:p.Gly516Asp						p.G516D	NM_000715	NP_000706	P04003	C4BPA_HUMAN			10	1741	+			516			Sushi 8.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.1547G>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	6.049	0.377326	0.11466	.	.	ENSG00000123838	ENST00000367070	T	0.63417	-0.04	5.29	-10.6	0.00265	Complement control module (2);Sushi/SCR/CCP (3);	3.283670	0.00481	N	0.000121	T	0.35998	0.0951	N	0.14661	0.345	0.09310	N	1	B	0.28208	0.203	B	0.31614	0.133	T	0.19289	-1.0310	10	0.12430	T	0.62	.	5.1886	0.15197	0.5668:0.2352:0.1073:0.0907	.	516	P04003	C4BPA_HUMAN	D	516	ENSP00000356037:G516D	ENSP00000356037:G516D	G	+	2	0	C4BPA	205383888	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.147000	0.03188	-2.162000	0.00784	-0.157000	0.13467	GGT		0.473	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			19	88	0	0	0	1	0	19	88				
TICRR	90381	broad.mit.edu	37	15	90129030	90129030	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr15:90129030G>A	ENST00000268138.7	+	4	1373	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	TICRR_ENST00000560985.1_Missense_Mutation_p.R422H|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	423					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										ACTGTGTGCCGCACCAAGGAG	0.542																																						uc002boe.3																			0				NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59						c.(1267-1269)cGc>cAc		Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.							86.0	88.0	87.0					15																	90129030		1978	4151	6129	SO:0001583	missense	90381				DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90129030G>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1268G>A	15.37:g.90129030G>A	ENSP00000268138:p.Arg423His					C15orf42_uc021sug.1_Missense_Mutation_p.R422H	p.R423H	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		3	1268	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		423					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.1268G>A	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	g	3.132	-0.178303	0.06380	.	.	ENSG00000140534	ENST00000268138	T	0.13901	2.55	5.24	-2.38	0.06622	.	0.846013	0.11198	N	0.589141	T	0.08447	0.0210	L	0.27053	0.805	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.28964	-1.0027	10	0.46703	T	0.11	0.7395	7.3452	0.26660	0.4494:0.1087:0.4419:0.0	.	423	Q7Z2Z1	TICRR_HUMAN	H	423	ENSP00000268138:R423H	ENSP00000268138:R423H	R	+	2	0	C15orf42	87930034	0.000000	0.05858	0.005000	0.12908	0.010000	0.07245	-0.060000	0.11712	-0.695000	0.05105	-0.150000	0.13652	CGC		0.542	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		3	105	0	0	0	1	0	3	105				
TOP3B	8940	broad.mit.edu	37	22	22318659	22318659	+	Silent	SNP	C	C	A			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr22:22318659C>A	ENST00000398793.2	-	10	1406	c.972G>T	c.(970-972)acG>acT	p.T324T	TOP3B_ENST00000357179.5_Silent_p.T324T|TOP3B_ENST00000413067.2_Silent_p.T53T	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	324					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GCCGCTCAGCCGTCTGCATGG	0.637																																						uc002zvs.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(970-972)acG>acT		Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.							141.0	108.0	119.0					22																	22318659		2203	4300	6503	SO:0001819	synonymous_variant	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22318659C>A	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.972G>T	22.37:g.22318659C>A						TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Silent_p.T324T|TOP3B_uc010gtl.3_Silent_p.T324T	p.T324T	NM_003935	NP_003926	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	9	1407	-	Colorectal(54;0.105)		324					A0M8Q3|Q9BUP5	Silent	SNP	ENST00000398793.2	37	c.972G>T	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	8.017	0.758885	0.15846	.	.	ENSG00000100038	ENST00000457270	.	.	.	5.05	-10.1	0.00402	.	.	.	.	.	T	0.31420	0.0796	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39623	-0.9605	4	.	.	.	.	1.1052	0.01692	0.1919:0.2783:0.1729:0.3569	.	.	.	.	L	119	.	.	R	-	2	0	TOP3B	20648659	0.032000	0.19561	0.013000	0.15412	0.870000	0.49936	-0.904000	0.04080	-2.506000	0.00507	-1.069000	0.02264	CGG		0.637	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		3	110	0	0	0	1	0	3	110				
MAP1A	4130	broad.mit.edu	37	15	43816894	43816894	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr15:43816894G>A	ENST00000300231.5	+	4	3673	c.3223G>A	c.(3223-3225)Gca>Aca	p.A1075T	MAP1A_ENST00000382031.1_Missense_Mutation_p.A1313T|MAP1A_ENST00000399453.1_Missense_Mutation_p.A1075T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1075					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGCCCAGGAAGCACCTGTCAA	0.532																																						uc001zrt.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(3223-3225)Gca>Aca		Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	Estramustine(DB01196)						66.0	72.0	70.0					15																	43816894		1947	4137	6084	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43816894G>A	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3223G>A	15.37:g.43816894G>A	ENSP00000300231:p.Ala1075Thr						p.A1075T	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	3	3690	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1075					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.3223G>A	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	0.067	-1.209826	0.01555	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01438	4.89;4.89;4.89	5.55	0.124	0.14714	.	1.118830	0.07056	N	0.832946	T	0.01156	0.0038	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.50709	-0.8796	10	0.14252	T	0.57	-2.1833	1.1205	0.01724	0.2281:0.1693:0.3816:0.221	.	1075	P78559	MAP1A_HUMAN	T	1313;1075;1075	ENSP00000371462:A1313T;ENSP00000382380:A1075T;ENSP00000300231:A1075T	ENSP00000300231:A1075T	A	+	1	0	MAP1A	41604186	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	-0.190000	0.09615	0.145000	0.18977	-0.126000	0.14955	GCA		0.532	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		3	120	0	0	0	1	0	3	120				
ILDR2	387597	broad.mit.edu	37	1	166889963	166889963	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DJ-A3US-01A-11D-A22D-08	TCGA-DJ-A3US-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad874249-9964-4e48-aa3f-7e828ea28f3f	23aa8b80-6356-479f-beae-d06aa7d895dc	g.chr1:166889963delT	ENST00000271417.3	-	9	1920	c.1865delA	c.(1864-1866)aagfs	p.K622fs	ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000526687.1_Frame_Shift_Del_p.K514fs|ILDR2_ENST00000525740.1_Frame_Shift_Del_p.K495fs|ILDR2_ENST00000528703.1_Frame_Shift_Del_p.K563fs|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Frame_Shift_Del_p.K603fs	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	622					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGCGGGCTCCTTTTTCCTCTT	0.682																																						uc001gdx.2																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(1864-1866)aagfs		Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.							10.0	14.0	12.0					1																	166889963		2173	4245	6418	SO:0001589	frameshift_variant	387597					integral to membrane		g.chr1:166889963delT	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1865delA	1.37:g.166889963delT	ENSP00000271417:p.Lys622fs						p.K622fs	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			8	1921	-			622						Frame_Shift_Del	DEL	ENST00000271417.3	37	c.1865delA	CCDS1256.1																																																																																				0.682	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		2	4						2	4	---	---	---	---
