#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
ZNF761	388561	broad.mit.edu	37	19	53959342	53959342	+	RNA	SNP	C	C	T	rs530503536	byFrequency	TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr19:53959342C>T	ENST00000454407.1	+	0	2034							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GTAATGAGTGCGGCAAGACCT	0.443													c|||	4	0.000798722	0.0008	0.0	5008	,	,		22324	0.0		0.0	False		,,,				2504	0.0031					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							105.0	102.0	103.0					19																	53959342		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959342C>T	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959342C>T										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	2034	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.443	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		5	159	0	0	0	1	0	5	159				
EDC4	23644	broad.mit.edu	37	16	67913012	67913012	+	Silent	SNP	C	C	T	rs146270915		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr16:67913012C>T	ENST00000358933.5	+	12	1679	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	480					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGCTGCCTGCCGAAGAGGAAA	0.592																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1438-1440)gcC>gcT		enhancer of mRNA decapping 4							39.0	37.0	37.0					16																	67913012		2198	4300	6498	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913012C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1440C>T	16.37:g.67913012C>T						EDC4_ENST00000574770.1_3'UTR	p.A480A	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	12	1679	+		Ovarian(137;0.0563)	480					A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.1440C>T	CCDS10849.1																																																																																				0.592	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		3	50	0	0	0	1	0	3	50				
APBA2	321	broad.mit.edu	37	15	29346497	29346497	+	Missense_Mutation	SNP	C	C	T	rs143649138		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr15:29346497C>T	ENST00000558402.1	+	5	1009	c.410C>T	c.(409-411)gCg>gTg	p.A137V	APBA2_ENST00000558330.1_Missense_Mutation_p.A137V|APBA2_ENST00000561069.1_Missense_Mutation_p.A137V|APBA2_ENST00000558259.1_Missense_Mutation_p.A137V|APBA2_ENST00000411764.1_Missense_Mutation_p.A137V			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	137					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.A137V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TGCCAGGAGGCGGTGGAGGAG	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18531	0.0		0.0	False		,,,				2504	0.0					ENST00000558402.1																			1	Substitution - Missense(1)	p.A137V(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(409-411)gCg>gTg		amyloid beta (A4) precursor protein-binding, family A, member 2		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	77.0	67.0	70.0		410,410	5.2	1.0	15	dbSNP_134	70	8,8592	5.7+/-21.5	0,8,4292	yes	missense,missense	APBA2	NM_001130414.1,NM_005503.3	64,64	0,8,6495	TT,TC,CC		0.093,0.0,0.0615	benign,benign	137/738,137/750	29346497	8,12998	2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346497C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.410C>T	15.37:g.29346497C>T	ENSP00000453293:p.Ala137Val					APBA2_ENST00000411764.1_Missense_Mutation_p.A137V|APBA2_ENST00000561069.1_Missense_Mutation_p.A137V|APBA2_ENST00000558330.1_Missense_Mutation_p.A137V|APBA2_ENST00000558259.1_Missense_Mutation_p.A137V	p.A137V			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	1009	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	137					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.410C>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186928	0.57909	0.0	9.3E-4	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.50813	0.73	5.25	5.25	0.73442	.	0.121159	0.52532	D	0.000066	T	0.46229	0.1382	M	0.68952	2.095	0.54753	D	0.999986	P;B;B	0.35575	0.51;0.104;0.104	B;B;B	0.23419	0.046;0.013;0.012	T	0.54794	-0.8240	10	0.72032	D	0.01	.	17.832	0.88685	0.0:1.0:0.0:0.0	.	137;137;137	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	V	137	ENSP00000409312:A137V	ENSP00000219865:A137V	A	+	2	0	APBA2	27133789	0.999000	0.42202	0.995000	0.50966	0.701000	0.40568	4.232000	0.58645	2.423000	0.82170	0.650000	0.86243	GCG		0.662	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		6	73	0	0	0	1	0	6	73				
USP34	9736	broad.mit.edu	37	2	61415540	61415540	+	Silent	SNP	A	A	G			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr2:61415540A>G	ENST00000398571.2	-	80	10414	c.10338T>C	c.(10336-10338)gaT>gaC	p.D3446D	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3446					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATTCTTTACAATCGTCATATC	0.408																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(10336-10338)gaT>gaC		ubiquitin specific peptidase 34							96.0	89.0	91.0					2																	61415540		1903	4132	6035	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61415540A>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10338T>C	2.37:g.61415540A>G							p.D3446D	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		80	10414	-			3446					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.10338T>C	CCDS42686.1																																																																																				0.408	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			11	88	0	0	0	1	0	11	88				
CDC42	998	broad.mit.edu	37	1	22412991	22412991	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:22412991G>T	ENST00000344548.3	+	5	489	c.238G>T	c.(238-240)Gtc>Ttc	p.V80F	CDC42_ENST00000421089.2_Missense_Mutation_p.V122F|CDC42_ENST00000400259.1_Missense_Mutation_p.V80F|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000315554.8_Missense_Mutation_p.V80F	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	80					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TGTATTTCTAGTCTGTTTTTC	0.368																																						ENST00000344548.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12						c.(238-240)Gtc>Ttc		cell division cycle 42							94.0	97.0	96.0					1																	22412991		2203	4297	6500	SO:0001583	missense	998				actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding	g.chr1:22412991G>T	BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"""GTP binding protein, 25kDa"""	116952	"""cell division cycle 42 (GTP-binding protein, 25kD)"", ""cell division cycle 42 (GTP binding protein, 25kDa)"""			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.238G>T	1.37:g.22412991G>T	ENSP00000341072:p.Val80Phe					CDC42_ENST00000421089.2_Missense_Mutation_p.V122F|CDC42_ENST00000400259.1_Missense_Mutation_p.V80F|CDC42_ENST00000315554.8_Missense_Mutation_p.V80F|CDC42_ENST00000498236.1_3'UTR	p.V80F	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)	5	489	+		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)	80					P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	ENST00000344548.3	37	c.238G>T	CCDS221.1	.	.	.	.	.	.	.	.	.	.	g	29.2	4.989688	0.93106	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000315554;ENST00000421089;ENST00000411827	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91192	0.7225	M	0.87456	2.885	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999	D;D;D;D;D	0.87578	0.998;0.991;0.998;0.991;0.977	D	0.92335	0.5877	10	0.87932	D	0	.	18.1071	0.89524	0.0:0.0:1.0:0.0	.	122;125;122;80;80	E7ETU3;B4E1U9;B4DMH5;P60953;P60953-1	.;.;.;CDC42_HUMAN;.	F	80;80;80;122;80	ENSP00000383118:V80F;ENSP00000341072:V80F;ENSP00000314458:V80F;ENSP00000398592:V122F;ENSP00000398327:V80F	ENSP00000314458:V80F	V	+	1	0	CDC42	22285578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.576000	0.98192	2.677000	0.91161	0.650000	0.86243	GTC		0.368	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007787.1	NM_001791		12	62	1	0	2.31682e-05	1	2.53134e-05	12	62				
SEC22C	9117	broad.mit.edu	37	3	42594851	42594851	+	Silent	SNP	G	G	A	rs556457508		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:42594851G>A	ENST00000264454.3	-	7	944	c.801C>T	c.(799-801)caC>caT	p.H267H	SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000536332.1_Intron|SEC22C_ENST00000273156.7_Intron|SEC22C_ENST00000417572.1_Intron			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	267					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TCCTCAGCCCGTGCAGGTACA	0.463													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21952	0.0		0.0	False		,,,				2504	0.0					ENST00000264454.3																			0				endometrium(1)|large_intestine(2)	3						c.(799-801)caC>caT		SEC22 vesicle trafficking protein homolog C (S. cerevisiae)							115.0	108.0	110.0					3																	42594851		2203	4300	6503	SO:0001819	synonymous_variant	9117				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr3:42594851G>A	AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"""SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"""	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.801C>T	3.37:g.42594851G>A						SEC22C_ENST00000536332.1_Intron|SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000417572.1_Intron|SEC22C_ENST00000273156.7_Intron	p.H267H			Q9BRL7	SC22C_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	7	944	-			267					O95152|Q68CX3|Q6UW18	Silent	SNP	ENST00000264454.3	37	c.801C>T	CCDS2700.1	.	.	.	.	.	.	.	.	.	.	G	7.448	0.642122	0.14451	.	.	ENSG00000093183	ENST00000451653	.	.	.	4.25	-3.44	0.04796	.	.	.	.	.	T	0.62319	0.2418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59579	-0.7428	4	.	.	.	-9.8977	12.9943	0.58638	0.6696:0.0:0.3304:0.0	.	.	.	.	W	189	.	.	R	-	1	2	SEC22C	42569855	0.005000	0.15991	0.950000	0.38849	0.980000	0.70556	-1.162000	0.03141	-0.930000	0.03752	-0.971000	0.02607	CGG		0.463	SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	NM_004206		4	65	0	0	0	1	0	4	65				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	47	0	0	0	1	0	4	47				
CUBN	8029	broad.mit.edu	37	10	16979755	16979755	+	Missense_Mutation	SNP	C	C	A	rs192022688		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr10:16979755C>A	ENST00000377833.4	-	39	5827	c.5762G>T	c.(5761-5763)cGc>cTc	p.R1921L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1921	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.R1921L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCAATTAGGCGGGCGTGAAT	0.358																																						ENST00000377833.4																			1	Substitution - Missense(1)	p.R1921L(1)	upper_aerodigestive_tract(1)	breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(5761-5763)cGc>cTc		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						60.0	65.0	63.0					10																	16979755		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16979755C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5762G>T	10.37:g.16979755C>A	ENSP00000367064:p.Arg1921Leu						p.R1921L	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			39	5827	-			1921			CUB 13.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.5762G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919908	0.33908	.	.	ENSG00000107611	ENST00000377833	T	0.34275	1.37	5.14	4.22	0.49857	CUB (5);	0.408692	0.18028	N	0.154002	T	0.44787	0.1310	M	0.67625	2.065	0.45239	D	0.998248	D	0.55385	0.971	P	0.54590	0.756	T	0.33007	-0.9885	10	0.27785	T	0.31	.	6.2257	0.20706	0.154:0.6966:0.0:0.1494	.	1921	O60494	CUBN_HUMAN	L	1921	ENSP00000367064:R1921L	ENSP00000367064:R1921L	R	-	2	0	CUBN	17019761	0.808000	0.29022	0.435000	0.26784	0.267000	0.26476	1.064000	0.30579	1.252000	0.44001	0.591000	0.81541	CGC		0.358	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		4	42	1	0	0.014758	1	0.0152758	4	42				
KIAA0586	9786	broad.mit.edu	37	14	59014653	59014653	+	3'UTR	SNP	G	G	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr14:59014653G>T	ENST00000556134.1	+	0	4879				KIAA0586_ENST00000261244.5_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.G1632W|KIAA0586_ENST00000423743.3_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTTCTGAACGGGAAGAGACA	0.483																																						ENST00000354386.6																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(4894-4896)Ggg>Tgg		KIAA0586							79.0	81.0	80.0					14																	59014653		1962	4156	6118	SO:0001624	3_prime_UTR_variant	9786							g.chr14:59014653G>T	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.*3G>T	14.37:g.59014653G>T						KIAA0586_ENST00000261244.5_3'UTR|KIAA0586_ENST00000556134.1_3'UTR|KIAA0586_ENST00000423743.3_3'UTR	p.G1632W	NM_001244189.1	NP_001231118.1	E9PGW8	E9PGW8_HUMAN			34	5138	+			0					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.4894G>T	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177297	0.38413	.	.	ENSG00000100578	ENST00000354386	T	0.52295	0.67	4.37	0.334	0.15948	.	.	.	.	.	T	0.58337	0.2115	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.68353	0.957	T	0.46048	-0.9219	8	0.87932	D	0	.	3.7657	0.08622	0.3197:0.1849:0.4954:0.0	.	1632	E7EWM8	.	W	1632	ENSP00000346359:G1632W	ENSP00000346359:G1632W	G	+	1	0	KIAA0586	58084406	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.450000	0.21762	0.054000	0.16065	-0.291000	0.09656	GGG		0.483	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		5	63	1	0	8.12818e-05	1	8.71932e-05	5	63				
AMY2B	280	broad.mit.edu	37	1	104120352	104120352	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:104120352A>C	ENST00000361355.4	+	11	1847	c.1231A>C	c.(1231-1233)Aat>Cat	p.N411H	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	411					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GAACATGGTTAATTTCCGCAA	0.348																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(1231-1233)Aat>Cat		amylase, alpha 2B (pancreatic)							113.0	146.0	134.0					1																	104120352		1484	2622	4106	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104120352A>C	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1231A>C	1.37:g.104120352A>C	ENSP00000354610:p.Asn411His					AMY2B_ENST00000491397.1_3'UTR	p.N411H	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	11	1847	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	411					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.1231A>C	CCDS782.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.435139	0.00182	.	.	ENSG00000240038	ENST00000361355	.	.	.	4.82	-0.942	0.10398	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	1.430650	0.05087	N	0.484575	T	0.07954	0.0199	N	0.03608	-0.345	0.09310	N	1	B	0.17852	0.024	B	0.16289	0.015	T	0.33033	-0.9884	9	0.48119	T	0.1	.	10.5358	0.45002	0.6429:0.0:0.3571:0.0	.	411	P19961	AMY2B_HUMAN	H	411	.	ENSP00000354610:N411H	N	+	1	0	AMY2B	103921875	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	0.048000	0.14078	-0.988000	0.03489	-1.827000	0.00596	AAT		0.348	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		22	267	0	0	0	1	0	22	267				
PCDHGA1	56114	broad.mit.edu	37	5	140712689	140712689	+	Intron	SNP	A	A	C			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr5:140712689A>C	ENST00000517417.1	+	1	2421				PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E813A	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1						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)			TTTTGTGATGAATGTATCAGC	0.368																																						ENST00000378105.3																			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.(2437-2439)gAa>gCa									45.0	48.0	47.0					5																	140712689		2203	4300	6503	SO:0001627	intron_variant	56114							g.chr5:140712689A>C	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.2421+17A>C	5.37:g.140712689A>C						PCDHGA1_ENST00000517417.1_Intron	p.E813A	NM_031993.1	NP_114382.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2438	+								Q2M273|Q9Y5D6	Missense_Mutation	SNP	ENST00000517417.1	37	c.2438A>C	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	.	9.362	1.068303	0.20067	.	.	ENSG00000204956	ENST00000378105	T	0.46819	0.86	3.98	2.84	0.33178	.	13.520700	0.00706	U	0.000816	T	0.30070	0.0753	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.19946	0.027	T	0.19976	-1.0289	9	.	.	.	.	7.3165	0.26503	0.8903:0.0:0.1097:0.0	.	813	Q9Y5H4-2	.	A	813	ENSP00000367345:E813A	.	E	+	2	0	PCDHGA1	140692873	0.032000	0.19561	0.023000	0.16930	0.218000	0.24690	2.026000	0.41069	1.798000	0.52647	0.443000	0.29094	GAA		0.368	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		6	51	0	0	0	1	0	6	51				
PIK3R4	30849	broad.mit.edu	37	3	130405201	130405201	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:130405201G>C	ENST00000356763.3	-	15	3886	c.3329C>G	c.(3328-3330)tCt>tGt	p.S1110C	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1110					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GGCAAGAACAGACTGTGCTCC	0.468																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(3328-3330)tCt>tGt		phosphoinositide-3-kinase, regulatory subunit 4							151.0	131.0	138.0					3																	130405201		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130405201G>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.3329C>G	3.37:g.130405201G>C	ENSP00000349205:p.Ser1110Cys					PIK3R4_ENST00000512677.1_5'UTR	p.S1110C	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			15	3886	-			1110					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.3329C>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880692	0.72294	.	.	ENSG00000196455	ENST00000356763	T	0.08984	3.03	4.91	4.01	0.46588	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.247629	0.42420	D	0.000701	T	0.24774	0.0601	M	0.77486	2.375	0.58432	D	0.999998	D	0.63880	0.993	P	0.59012	0.85	T	0.01608	-1.1313	10	0.66056	D	0.02	-22.0778	14.0938	0.65006	0.0772:0.0:0.9228:0.0	.	1110	Q99570	PI3R4_HUMAN	C	1110	ENSP00000349205:S1110C	ENSP00000349205:S1110C	S	-	2	0	PIK3R4	131887891	1.000000	0.71417	0.982000	0.44146	0.816000	0.46133	7.594000	0.82698	2.453000	0.82957	0.561000	0.74099	TCT		0.468	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		5	73	0	0	0	1	0	5	73				
SLC7A11	23657	broad.mit.edu	37	4	139135747	139135747	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr4:139135747G>C	ENST00000280612.5	-	6	1062	c.783C>G	c.(781-783)aaC>aaG	p.N261K		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	261					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	ACTTTTCAGGGTTTTCTACTT	0.259																																						ENST00000280612.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18						c.(781-783)aaC>aaG		solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)						47.0	55.0	52.0					4																	139135747		2198	4288	6486	SO:0001583	missense	23657				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding	g.chr4:139135747G>C	AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.783C>G	4.37:g.139135747G>C	ENSP00000280612:p.Asn261Lys						p.N261K	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN			6	1062	-	all_hematologic(180;0.166)		261					A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	c.783C>G	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353568	0.41700	.	.	ENSG00000151012	ENST00000280612	D	0.90069	-2.61	5.49	-2.16	0.07080	Amino acid permease domain (1);	0.087601	0.85682	N	0.000000	D	0.88847	0.6548	M	0.66506	2.035	0.51233	D	0.999912	P	0.40282	0.711	P	0.51742	0.678	D	0.84078	0.0383	10	0.56958	D	0.05	.	6.8101	0.23799	0.3284:0.0:0.5516:0.12	.	261	Q9UPY5	XCT_HUMAN	K	261	ENSP00000280612:N261K	ENSP00000280612:N261K	N	-	3	2	SLC7A11	139355197	1.000000	0.71417	0.928000	0.36995	0.951000	0.60555	0.743000	0.26231	-0.380000	0.07894	-0.291000	0.09656	AAC		0.259	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			5	60	0	0	0	1	0	5	60				
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs200454029	byFrequency	TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr13:52864028C>T	ENST00000451298.1	-	0	141																											TAGAATGATACTCCAAAGGAA	0.313																																						ENST00000451298.1																			0																																																			644623							g.chr13:52864028C>T																													13.37:g.52864028C>T						RP11-64P12.8_ENST00000606031.1_RNA								0	141	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			3	35	0	0	0	1	0	3	35				
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(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	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578263G>A	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	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_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*	p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	45	0	0	0	1	0	4	45				
ALG6	29929	broad.mit.edu	37	1	63836691	63836691	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:63836691C>A	ENST00000371108.4	+	2	348	c.43C>A	c.(43-45)Cta>Ata	p.L15I	ALG6_ENST00000263440.4_Missense_Mutation_p.L15I	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	15					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTTAATAGGACTAACAGTACG	0.343																																						ENST00000371108.4																			0				endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(43-45)Cta>Ata		ALG6, alpha-1,3-glucosyltransferase							202.0	200.0	201.0					1																	63836691		2203	4300	6503	SO:0001583	missense	29929				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr1:63836691C>A	AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.43C>A	1.37:g.63836691C>A	ENSP00000360149:p.Leu15Ile					ALG6_ENST00000263440.4_Missense_Mutation_p.L15I	p.L15I	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN			2	348	+			15					B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	ENST00000371108.4	37	c.43C>A	CCDS30735.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282816	0.40394	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	D;D	0.84730	-1.89;-1.89	5.66	5.66	0.87406	.	0.144833	0.46442	D	0.000281	T	0.65831	0.2729	L	0.31065	0.9	0.58432	D	0.999992	B	0.27559	0.181	B	0.33392	0.163	T	0.64080	-0.6491	10	0.06236	T	0.91	-0.2857	15.2325	0.73401	0.0:1.0:0.0:0.0	.	15	A2A2G4	.	I	15	ENSP00000360149:L15I;ENSP00000263440:L15I	ENSP00000263440:L15I	L	+	1	2	ALG6	63609279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.566000	0.45948	2.663000	0.90544	0.655000	0.94253	CTA		0.343	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025330.2	NM_013339		5	74	1	0	0.000602214	1	0.000634476	5	74				
BBX	56987	broad.mit.edu	37	3	107497354	107497354	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:107497354A>G	ENST00000325805.8	+	13	2478	c.2191A>G	c.(2191-2193)Aaa>Gaa	p.K731E	BBX_ENST00000415149.2_Missense_Mutation_p.K731E|BBX_ENST00000402543.1_Missense_Mutation_p.K731E|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000406780.1_Missense_Mutation_p.K731E|BBX_ENST00000416476.2_Silent_p.L394L			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	731	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAACCGACTAAAACCAGCAA	0.448																																						ENST00000415149.2																			0				breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49						c.(2191-2193)Aaa>Gaa		bobby sox homolog (Drosophila)							90.0	84.0	86.0					3																	107497354		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107497354A>G	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2191A>G	3.37:g.107497354A>G	ENSP00000319974:p.Lys731Glu					BBX_ENST00000406780.1_Missense_Mutation_p.K731E|BBX_ENST00000416476.2_Silent_p.L394L|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000325805.8_Missense_Mutation_p.K731E|BBX_ENST00000402543.1_Missense_Mutation_p.K731E	p.K731E	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		13	2518	+			731			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.2191A>G	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.773769	0.90108	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	L	0.32530	0.975	0.44880	D	0.997893	D;D	0.89917	1.0;0.99	D;D	0.85130	0.997;0.979	T	0.67409	-0.5678	10	0.87932	D	0	-15.8013	16.3678	0.83341	1.0:0.0:0.0:0.0	.	731;731	Q8WY36;Q8WY36-2	BBX_HUMAN;.	E	731	ENSP00000408358:K731E;ENSP00000385317:K731E;ENSP00000319974:K731E;ENSP00000385530:K731E	ENSP00000319974:K731E	K	+	1	0	BBX	108980044	1.000000	0.71417	0.966000	0.40874	0.892000	0.51952	8.739000	0.91574	2.254000	0.74563	0.528000	0.53228	AAA		0.448	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		6	80	0	0	0	1	0	6	80				
ABLIM2	84448	broad.mit.edu	37	4	8098826	8098826	+	Splice_Site	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr4:8098826C>T	ENST00000341937.5	-	3	402	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	ABLIM2_ENST00000546334.1_Splice_Site_p.R113Q|ABLIM2_ENST00000428004.2_Splice_Site_p.R113Q|ABLIM2_ENST00000296372.8_Splice_Site_p.R113Q|ABLIM2_ENST00000545242.1_Splice_Site_p.R113Q|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000407564.3_Splice_Site_p.R113Q|ABLIM2_ENST00000361737.5_Splice_Site_p.R113Q|ABLIM2_ENST00000361581.5_Splice_Site_p.R113Q|ABLIM2_ENST00000505872.1_Splice_Site_p.R113Q|ABLIM2_ENST00000447017.2_Splice_Site_p.R113Q	NM_001130084.1	NP_001123556.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	113	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|myofibril (GO:0030016)	zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						ACTTACTCACCGGCAGACGGC	0.642																																						ENST00000296372.8																			0				NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						c.e3+1		actin binding LIM protein family, member 2							24.0	33.0	30.0					4																	8098826		2188	4279	6467	SO:0001630	splice_region_variant	84448				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	g.chr4:8098826C>T	AB058711	CCDS47011.1, CCDS47012.1, CCDS47013.1, CCDS47014.1, CCDS47015.1, CCDS47016.1, CCDS54719.1, CCDS68669.1	4p16.1	2012-05-16			ENSG00000163995	ENSG00000163995			19195	protein-coding gene	gene with protein product		612544	"""actin binding LIM protein 2"""				Standard	NM_001130083		Approved	KIAA1808	uc003gkj.4	Q6H8Q1	OTTHUMG00000057427	ENST00000341937.5:c.338+1G>A	4.37:g.8098826C>T						ABLIM2_ENST00000341937.5_Splice_Site_p.R113_splice|ABLIM2_ENST00000361737.5_Splice_Site_p.R113_splice|ABLIM2_ENST00000545242.1_Splice_Site_p.R113_splice|ABLIM2_ENST00000407564.3_Splice_Site_p.R113_splice|ABLIM2_ENST00000546334.1_Splice_Site_p.R113_splice|ABLIM2_ENST00000428004.2_Splice_Site_p.R113_splice|ABLIM2_ENST00000361581.5_Splice_Site_p.R113_splice|ABLIM2_ENST00000447017.2_Splice_Site_p.R113_splice|ABLIM2_ENST00000505872.1_Splice_Site_p.R113_splice|ABLIM2_ENST00000318888.4_5'UTR	p.R113_splice			Q6H8Q1	ABLM2_HUMAN			3	480	-			113			LIM zinc-binding 2.		E9PF39|Q08E71|Q19VH0|Q6H8Q0|Q6NX73|Q8N3C5|Q8N9E9|Q8N9G2|Q96JL7	Splice_Site	SNP	ENST00000341937.5	37	c.338_splice	CCDS47013.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511898	0.64522	.	.	ENSG00000163995	ENST00000361737;ENST00000400045;ENST00000296372;ENST00000545242;ENST00000546334;ENST00000447017;ENST00000341937;ENST00000361581;ENST00000407564;ENST00000505872;ENST00000428004	T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	4.43	4.43	0.53597	Zinc finger, LIM-type (5);	0.305106	0.34178	N	0.004182	T	0.63129	0.2485	L	0.49640	1.575	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.973;0.978;0.997;0.998;1.0;0.957;0.997;0.999	P;P;D;P;D;P;P;D	0.83275	0.638;0.717;0.93;0.814;0.996;0.791;0.876;0.943	T	0.62134	-0.6918	9	.	.	.	.	17.2158	0.86943	0.0:1.0:0.0:0.0	.	118;113;113;113;113;113;113;113	B7Z6W4;Q6H8Q1-6;Q08E71;Q6H8Q1-2;Q6H8Q1-3;Q6H8Q1;Q19VH0;E9PF39	.;.;.;.;.;ABLM2_HUMAN;.;.	Q	113	ENSP00000354887:R113Q;ENSP00000296372:R113Q;ENSP00000441255:R113Q;ENSP00000444365:R113Q;ENSP00000393511:R113Q;ENSP00000342813:R113Q;ENSP00000355003:R113Q;ENSP00000384658:R113Q;ENSP00000421283:R113Q;ENSP00000389410:R113Q	.	R	-	2	0	ABLIM2	8149726	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	3.220000	0.51207	2.292000	0.77174	0.561000	0.74099	CGG		0.642	ABLIM2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358862.2	NM_001130083	Missense_Mutation	3	25	0	0	0	1	0	3	25				
HSPG2	3339	broad.mit.edu	37	1	22204945	22204945	+	Silent	SNP	G	G	A	rs144974575		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:22204945G>A	ENST00000374695.3	-	20	2677	c.2598C>T	c.(2596-2598)ggC>ggT	p.G866G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	866	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TGCACTTCCCGCCGGGCTGGA	0.682																																						ENST00000374695.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127						c.(2596-2598)ggC>ggT		heparan sulfate proteoglycan 2	Becaplermin(DB00102)|Palifermin(DB00039)	G		1,4399		0,1,2199	21.0	23.0	23.0		2598	-0.3	0.2	1	dbSNP_134	23	0,8596		0,0,4298	no	coding-synonymous	HSPG2	NM_005529.5		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		866/4392	22204945	1,12995	2200	4298	6498	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22204945G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2598C>T	1.37:g.22204945G>A							p.G866G	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	20	2677	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	866			Laminin EGF-like 3.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.2598C>T	CCDS30625.1																																																																																				0.682	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		3	19	0	0	0	1	0	3	19				
C1orf198	84886	broad.mit.edu	37	1	230979438	230979438	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:230979438G>A	ENST00000366663.5	-	3	729	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W	C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000470540.1_Missense_Mutation_p.R159W|C1orf198_ENST00000523410.1_Missense_Mutation_p.R67W	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	197						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCTCGGGACCGCTCAGCATTG	0.637																																						ENST00000366663.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(589-591)Cgg>Tgg		chromosome 1 open reading frame 198							83.0	84.0	83.0					1																	230979438		2203	4300	6503	SO:0001583	missense	84886							g.chr1:230979438G>A	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.589C>T	1.37:g.230979438G>A	ENSP00000355623:p.Arg197Trp					C1orf198_ENST00000470540.1_Missense_Mutation_p.R159W|C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000523410.1_Missense_Mutation_p.R67W	p.R197W	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN			3	729	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	197					A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	c.589C>T	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208502	0.39003	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410;ENST00000522201	T;T;T	0.61158	0.9;0.9;0.13	4.61	2.69	0.31865	.	0.000000	0.85682	D	0.000000	T	0.74268	0.3694	M	0.71581	2.175	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	T	0.75852	-0.3171	10	0.87932	D	0	-28.1942	15.6606	0.77186	0.0:0.0:0.7503:0.2497	.	197	Q9H425	CA198_HUMAN	W	197;159;67;154	ENSP00000355623:R197W;ENSP00000428172:R159W;ENSP00000430967:R67W	ENSP00000355623:R197W	R	-	1	2	C1orf198	229046061	1.000000	0.71417	0.923000	0.36655	0.211000	0.24417	4.069000	0.57541	0.049000	0.15920	-2.048000	0.00412	CGG		0.637	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		4	136	0	0	0	1	0	4	136				
GYPC	2995	broad.mit.edu	37	2	127453589	127453589	+	Silent	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr2:127453589G>A	ENST00000259254.4	+	4	589	c.258G>A	c.(256-258)cgG>cgA	p.R86R	GYPC_ENST00000409836.3_Silent_p.R67R|GYPC_ENST00000356887.7_Silent_p.R65R|GYPC_ENST00000464053.1_3'UTR	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	86						cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		ACATGTACCGGCACAAGGGCA	0.597																																					Melanoma(110;806 1600 6704 9981 33404)	ENST00000259254.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13						c.(256-258)cgG>cgA		glycophorin C (Gerbich blood group)							203.0	160.0	174.0					2																	127453589		2203	4300	6503	SO:0001819	synonymous_variant	2995					cortical cytoskeleton|integral to plasma membrane	protein binding	g.chr2:127453589G>A		CCDS2136.1, CCDS46402.1, CCDS58724.1	2q14-q21	2014-07-19			ENSG00000136732	ENSG00000136732		"""CD molecules"", ""Blood group antigens"""	4704	protein-coding gene	gene with protein product		110750					Standard	NM_016815		Approved	GPC, GYPD, Ge, CD236, CD236R	uc002tnq.4	P04921	OTTHUMG00000131464	ENST00000259254.4:c.258G>A	2.37:g.127453589G>A						GYPC_ENST00000409836.3_Silent_p.R67R|GYPC_ENST00000356887.7_Silent_p.R65R|GYPC_ENST00000464053.1_3'UTR	p.R86R	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.075)	4	589	+	Colorectal(110;0.0533)		86					B2R522|Q53SV9|Q92642	Silent	SNP	ENST00000259254.4	37	c.258G>A	CCDS2136.1																																																																																				0.597	GYPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254297.1	NM_002101		5	129	0	0	0	1	0	5	129				
PTRF	284119	broad.mit.edu	37	17	40557364	40557364	+	Silent	SNP	G	G	A	rs200954375		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr17:40557364G>A	ENST00000357037.5	-	2	933	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GACTCTTTCAGCGATTTGCTG	0.647																																						ENST00000357037.5																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(514-516)Ctg>Ttg		polymerase I and transcript release factor							77.0	84.0	82.0					17																	40557364		2202	4299	6501	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40557364G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.514C>T	17.37:g.40557364G>A							p.L172L	NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	933	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	172						Silent	SNP	ENST00000357037.5	37	c.514C>T	CCDS11425.1																																																																																				0.647	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		21	188	0	0	0	1	0	21	188				
MLLT3	4300	broad.mit.edu	37	9	20414373	20414373	+	Silent	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr9:20414373G>A	ENST00000380338.4	-	5	757	c.471C>T	c.(469-471)agC>agT	p.S157S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	157	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S157S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S157S(5)	endometrium(3)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(469-471)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	14.0	12.0					9																	20414373		1757	3647	5404	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414373G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.471C>T	9.37:g.20414373G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S|MLLT3_ENST00000475957.1_5'UTR	p.S157S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	757	-			157			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.471C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	68	0	0	0	1	0	4	68				
POLR1E	64425	broad.mit.edu	37	9	37486094	37486094	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr9:37486094C>T	ENST00000377798.4	+	1	163	c.50C>T	c.(49-51)cCc>cTc	p.P17L	POLR1E_ENST00000442009.2_5'UTR|POLR1E_ENST00000377792.3_5'Flank	NM_022490.1	NP_071935.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	0					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TGTGGGGCGCCCGACGGGAGC	0.622																																					Ovarian(116;843 1620 18506 32459 34463)	ENST00000377798.4																			0				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12						c.(49-51)cCc>cTc		polymerase (RNA) I polypeptide E, 53kDa							54.0	45.0	48.0					9																	37486094		2202	4297	6499	SO:0001583	missense	64425				rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr9:37486094C>T	AK091294	CCDS6611.1	9p13.1	2013-01-21	2006-03-09	2006-03-09	ENSG00000137054	ENSG00000137054		"""RNA polymerase subunits"""	17631	protein-coding gene	gene with protein product	"""RNA polymerase I associated factor 53"""		"""polymerase (RNA) I associated factor 1"""	PRAF1		8641287	Standard	XM_005251547		Approved	FLJ13390, PAF53, FLJ13970	uc003zzy.1	Q9GZS1	OTTHUMG00000019920	ENST00000377798.4:c.50C>T	9.37:g.37486094C>T	ENSP00000367029:p.Pro17Leu					POLR1E_ENST00000442009.2_5'UTR	p.P17L	NM_022490.1	NP_071935.1	Q9GZS1	RPA49_HUMAN		GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)	1	163	+			84					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000377798.4	37	c.50C>T	CCDS6611.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837023	0.71373	.	.	ENSG00000137054	ENST00000377798;ENST00000421959	T	0.23147	1.92	5.21	2.32	0.28847	.	.	.	.	.	T	0.34193	0.0889	L	0.54323	1.7	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.62184	0.888;0.899	T	0.10660	-1.0620	9	0.34782	T	0.22	.	4.1324	0.10156	0.1628:0.5922:0.1574:0.0875	.	17;17	B4DW33;Q9GZS1-2	.;.	L	17	ENSP00000367029:P17L	ENSP00000367029:P17L	P	+	2	0	POLR1E	37476094	0.952000	0.32445	0.943000	0.38184	0.748000	0.42578	2.094000	0.41719	0.786000	0.33708	0.655000	0.94253	CCC		0.622	POLR1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052464.1	NM_022490		3	10	0	0	0	1	0	3	10				
NPY4R	5540	broad.mit.edu	37	10	47086822	47086822	+	Silent	SNP	A	A	G			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr10:47086822A>G	ENST00000395716.1	+	2	124	c.39A>G	c.(37-39)aaA>aaG	p.K13K	NPY4R_ENST00000374312.1_Silent_p.K13K			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	13					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										TGCTCCCAAAATCTCCACAAG	0.488																																						ENST00000374312.1																			0											c.(37-39)aaA>aaG		neuropeptide Y receptor Y4							116.0	110.0	112.0					10																	47086822		2203	4300	6503	SO:0001819	synonymous_variant	5540							g.chr10:47086822A>G		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.39A>G	10.37:g.47086822A>G						NPY4R_ENST00000395716.1_Silent_p.K13K	p.K13K	NM_005972.4	NP_005963.3					3	458	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Silent	SNP	ENST00000395716.1	37	c.39A>G	CCDS31193.1																																																																																				0.488	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			5	107	0	0	0	1	0	5	107				
TAF5L	27097	broad.mit.edu	37	1	229730404	229730404	+	Silent	SNP	G	G	A	rs144756502		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr1:229730404G>A	ENST00000366676.1	-	4	1409	c.1410C>T	c.(1408-1410)ccC>ccT	p.P470P	TAF5L_ENST00000258281.2_Silent_p.P470P			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	470					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GAGAAAGCACGGGGCCACGGT	0.592																																						ENST00000258281.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(1408-1410)ccC>ccT		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa		G		1,4405	2.1+/-5.4	0,1,2202	75.0	80.0	78.0		1410	-9.6	0.6	1	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous	TAF5L	NM_014409.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		470/590	229730404	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730404G>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1410C>T	1.37:g.229730404G>A						TAF5L_ENST00000366676.1_Silent_p.P470P	p.P470P	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN			5	1575	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	470					Q5TDI5|Q5TDI6|Q8IW31	Silent	SNP	ENST00000366676.1	37	c.1410C>T	CCDS1581.1																																																																																				0.592	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		4	143	0	0	0	1	0	4	143				
NFXL1	152518	broad.mit.edu	37	4	47853953	47853953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr4:47853953G>A	ENST00000507489.1	-	21	2604	c.2428C>T	c.(2428-2430)Cag>Tag	p.Q810*	NFXL1_ENST00000381538.3_Nonsense_Mutation_p.Q810*	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	810						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TTGTTGCACTGCAATTCCTAC	0.363																																						ENST00000507489.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						c.(2428-2430)Cag>Tag		nuclear transcription factor, X-box binding-like 1							155.0	141.0	146.0					4																	47853953		2203	4300	6503	SO:0001587	stop_gained	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47853953G>A	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.2428C>T	4.37:g.47853953G>A	ENSP00000422037:p.Gln810*					NFXL1_ENST00000381538.3_Nonsense_Mutation_p.Q810*	p.Q810*	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN			21	2604	-			810					B1Q2K1|Q86VG1|Q8WVH1	Nonsense_Mutation	SNP	ENST00000507489.1	37	c.2428C>T	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	G	40	8.261536	0.98732	.	.	ENSG00000170448	ENST00000381538;ENST00000507489	.	.	.	5.82	5.82	0.92795	.	0.273586	0.30101	N	0.010417	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	-0.2609	19.6951	0.96022	0.0:0.0:1.0:0.0	.	.	.	.	X	810	.	ENSP00000370949:Q810X	Q	-	1	0	NFXL1	47548710	0.978000	0.34361	0.620000	0.29132	0.949000	0.60115	6.982000	0.76173	2.760000	0.94817	0.655000	0.94253	CAG		0.363	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		5	76	0	0	0	1	0	5	76				
MEGF11	84465	broad.mit.edu	37	15	66220800	66220800	+	Silent	SNP	G	G	A	rs368624363		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr15:66220800G>A	ENST00000409699.2	-	13	1810	c.1638C>T	c.(1636-1638)ccC>ccT	p.P546P	MEGF11_ENST00000360698.4_Silent_p.P546P|MEGF11_ENST00000288745.3_Silent_p.P471P|MEGF11_ENST00000395625.2_Silent_p.P471P|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000422354.1_Silent_p.P546P			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	546					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GGCCTGTGACGGGGTCACATC	0.542																																						ENST00000409699.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1636-1638)ccC>ccT		multiple EGF-like-domains 11		G		2,4400	4.2+/-10.8	0,2,2199	89.0	72.0	78.0		1638	-8.1	0.2	15		78	0,8598		0,0,4299	no	coding-synonymous	MEGF11	NM_032445.2		0,2,6498	AA,AG,GG		0.0,0.0454,0.0154		546/1045	66220800	2,12998	2201	4299	6500	SO:0001819	synonymous_variant	84465					basolateral plasma membrane|integral to membrane		g.chr15:66220800G>A	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1638C>T	15.37:g.66220800G>A						MEGF11_ENST00000422354.1_Silent_p.P546P|MEGF11_ENST00000288745.3_Silent_p.P471P|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000360698.4_Silent_p.P546P|MEGF11_ENST00000395625.2_Silent_p.P471P	p.P546P			A6BM72	MEG11_HUMAN			13	1810	-			546					Q17R86|Q6UXS5|Q8ND91|Q96KG6	Silent	SNP	ENST00000409699.2	37	c.1638C>T	CCDS10213.2																																																																																				0.542	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445		7	64	0	0	0	1	0	7	64				
PRPF8	10594	broad.mit.edu	37	17	1563822	1563822	+	Silent	SNP	G	G	A	rs148287873		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr17:1563822G>A	ENST00000572621.1	-	29	4954	c.4689C>T	c.(4687-4689)caC>caT	p.H1563H	PRPF8_ENST00000304992.6_Silent_p.H1563H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1563	Linker.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGATCTTGCCGTGCATGAAGA	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22986	0.0		0.0	False		,,,				2504	0.0					ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(4687-4689)caC>caT		pre-mRNA processing factor 8		G		6,4400	11.4+/-27.6	0,6,2197	162.0	158.0	160.0		4689	-5.9	0.9	17	dbSNP_134	160	0,8600		0,0,4300	no	coding-synonymous	PRPF8	NM_006445.3		0,6,6497	AA,AG,GG		0.0,0.1362,0.0461		1563/2336	1563822	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1563822G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4689C>T	17.37:g.1563822G>A						PRPF8_ENST00000304992.6_Silent_p.H1563H	p.H1563H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	29	4954	-			1563					O14547|O75965	Silent	SNP	ENST00000572621.1	37	c.4689C>T	CCDS11010.1																																																																																				0.498	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			6	291	0	0	0	1	0	6	291				
NANOS2	339345	broad.mit.edu	37	19	46417876	46417876	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr19:46417876G>A	ENST00000341294.2	-	1	160	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	26					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		CTTTGACCCCGACTTGCGATC	0.662																																						ENST00000341294.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6						c.(76-78)Cgg>Tgg		nanos homolog 2 (Drosophila)							44.0	42.0	43.0					19																	46417876		2203	4300	6503	SO:0001583	missense	339345				germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding	g.chr19:46417876G>A	BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.76C>T	19.37:g.46417876G>A	ENSP00000341021:p.Arg26Trp						p.R26W	NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)	1	160	-		Ovarian(192;0.0308)|all_neural(266;0.0476)	26					Q17R30|Q4G0P8	Missense_Mutation	SNP	ENST00000341294.2	37	c.76C>T	CCDS33056.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016046	0.54468	.	.	ENSG00000188425	ENST00000341294	T	0.47177	0.85	4.87	-0.0499	0.13833	.	0.324668	0.25296	N	0.031682	T	0.27866	0.0686	N	0.19112	0.55	0.09310	N	1	D	0.61697	0.99	P	0.44477	0.451	T	0.23261	-1.0193	10	0.72032	D	0.01	-16.5911	3.4393	0.07457	0.0936:0.3424:0.4044:0.1595	.	26	P60321	NANO2_HUMAN	W	26	ENSP00000341021:R26W	ENSP00000341021:R26W	R	-	1	2	NANOS2	51109716	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.260000	0.08708	-0.037000	0.13646	0.313000	0.20887	CGG		0.662	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461685.1			7	51	0	0	0	1	0	7	51				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)Cga>Tga		cyclin-dependent kinase inhibitor 2A							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|RP11-145E5.5_ENST00000404796.2_Intron	p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	442	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58		R -> Q (in dbSNP:rs36204273).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		6	19	0	0	0	1	0	6	19				
GTF2A1L	11036	broad.mit.edu	37	2	48897097	48897097	+	Silent	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr2:48897097C>T	ENST00000403751.3	+	7	1252	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	GTF2A1L_ENST00000430487.2_Silent_p.D371D|STON1-GTF2A1L_ENST00000394754.1_Silent_p.D1109D|STON1-GTF2A1L_ENST00000309827.2_Silent_p.D1109D|STON1-GTF2A1L_ENST00000402114.2_Silent_p.D1109D|STON1-GTF2A1L_ENST00000394751.3_Silent_p.D1062D|STON1-GTF2A1L_ENST00000405008.1_Silent_p.D1109D|LHCGR_ENST00000420913.3_5'Flank	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	405					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATAATGAAGACCCTCAAGTAA	0.373																																						ENST00000394754.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91						c.(3325-3327)gaC>gaT									74.0	77.0	76.0					2																	48897097		2203	4300	6503	SO:0001819	synonymous_variant	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48897097C>T	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.1215C>T	2.37:g.48897097C>T						STON1-GTF2A1L_ENST00000309827.2_Silent_p.D1109D|GTF2A1L_ENST00000430487.2_Silent_p.D371D|GTF2A1L_ENST00000403751.3_Silent_p.D405D|STON1-GTF2A1L_ENST00000405008.1_Silent_p.D1109D|STON1-GTF2A1L_ENST00000402114.2_Silent_p.D1109D|STON1-GTF2A1L_ENST00000394751.3_Silent_p.D1062D	p.D1109D	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		9	3441	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	1062					B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	37	c.3327C>T	CCDS46281.1																																																																																				0.373	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872		6	57	0	0	0	1	0	6	57				
DTWD1	56986	broad.mit.edu	37	15	49926891	49926891	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr15:49926891G>T	ENST00000251250.6	+	5	774	c.567G>T	c.(565-567)ttG>ttT	p.L189F	DTWD1_ENST00000558653.1_Missense_Mutation_p.L189F|DTWD1_ENST00000415425.1_Missense_Mutation_p.L102F|DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000403028.3_Missense_Mutation_p.L189F	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	189										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		TCTGTGATTTGAATGACAGCA	0.348																																						ENST00000251250.6																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(565-567)ttG>ttT		DTW domain containing 1							60.0	66.0	64.0					15																	49926891		2195	4295	6490	SO:0001583	missense	56986							g.chr15:49926891G>T	BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.567G>T	15.37:g.49926891G>T	ENSP00000251250:p.Leu189Phe					DTWD1_ENST00000559223.1_3'UTR|DTWD1_ENST00000415425.1_Missense_Mutation_p.L102F|DTWD1_ENST00000558653.1_Missense_Mutation_p.L189F|DTWD1_ENST00000403028.3_Missense_Mutation_p.L189F	p.L189F	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)	5	774	+		all_lung(180;0.0384)	189					Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	ENST00000251250.6	37	c.567G>T	CCDS10132.1	.	.	.	.	.	.	.	.	.	.	G	1.195	-0.634185	0.03584	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.24350	1.86;1.86	4.81	1.3	0.21679	DTW (1);	1.039140	0.07552	N	0.915542	T	0.23926	0.0579	M	0.61703	1.905	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.31024	-0.9958	9	.	.	.	-0.2225	4.2494	0.10688	0.3429:0.1815:0.4756:0.0	.	102;189	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	F	189;189;102	ENSP00000385399:L189F;ENSP00000251250:L189F	.	L	+	3	2	DTWD1	47714183	0.616000	0.27035	0.951000	0.38953	0.487000	0.33371	1.244000	0.32778	0.540000	0.28808	0.655000	0.94253	TTG		0.348	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254431.2	NM_020234		11	77	1	0	1.58986e-06	1	1.76985e-06	11	77				
OR1J4	26219	broad.mit.edu	37	9	125281470	125281470	+	Silent	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr9:125281470C>T	ENST00000340750.1	+	1	51	c.51C>T	c.(49-51)ctC>ctT	p.L17L		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TCCTGGACCTCCCCATCTGGC	0.542																																						ENST00000340750.1																			0				large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						c.(49-51)ctC>ctT		olfactory receptor, family 1, subfamily J, member 4							172.0	145.0	154.0					9																	125281470		2203	4300	6503	SO:0001819	synonymous_variant	26219				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125281470C>T	X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.51C>T	9.37:g.125281470C>T							p.L17L	NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN			1	51	+			17					A3KFM0|Q6IEZ3|Q96R89	Silent	SNP	ENST00000340750.1	37	c.51C>T	CCDS35122.1																																																																																				0.542	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053936.1			11	120	0	0	0	1	0	11	120				
DNAH5	1767	broad.mit.edu	37	5	13914004	13914004	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr5:13914004A>G	ENST00000265104.4	-	11	1488	c.1384T>C	c.(1384-1386)Ttt>Ctt	p.F462L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	462	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTAAAATCAAATTGTTTTGCA	0.328									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(1384-1386)Ttt>Ctt		dynein, axonemal, heavy chain 5							90.0	94.0	93.0					5																	13914004		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13914004A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.1384T>C	5.37:g.13914004A>G	ENSP00000265104:p.Phe462Leu						p.F462L	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			11	1488	-	Lung NSC(4;0.00476)		462			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.1384T>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568472	0.86439	.	.	ENSG00000039139	ENST00000265104	T	0.57107	0.42	5.38	5.38	0.77491	Dynein heavy chain, domain-1 (1);	0.051362	0.85682	D	0.000000	T	0.66247	0.2770	M	0.82630	2.6	0.80722	D	1	B	0.26902	0.163	B	0.40477	0.33	T	0.68708	-0.5337	10	0.59425	D	0.04	.	15.6824	0.77381	1.0:0.0:0.0:0.0	.	462	Q8TE73	DYH5_HUMAN	L	462	ENSP00000265104:F462L	ENSP00000265104:F462L	F	-	1	0	DNAH5	13967004	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	8.921000	0.92784	2.170000	0.68504	0.460000	0.39030	TTT		0.328	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	29	0	0	0	1	0	8	29				
TF	7018	broad.mit.edu	37	3	133472485	133472485	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:133472485A>C	ENST00000402696.3	+	3	748	c.263A>C	c.(262-264)gAt>gCt	p.D88A	TFP1_ENST00000460564.1_RNA|TF_ENST00000264998.3_5'UTR|TF_ENST00000475382.1_3'UTR	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	88	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TTGGTGTATGATGCTTACCTG	0.527																																						ENST00000402696.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(262-264)gAt>gCt		transferrin	Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)						163.0	140.0	148.0					3																	133472485		2203	4300	6503	SO:0001583	missense	7018				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	g.chr3:133472485A>C		CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.263A>C	3.37:g.133472485A>C	ENSP00000385834:p.Asp88Ala					TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_5'UTR|TFP1_ENST00000460564.1_RNA	p.D88A	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN			3	748	+			88			Transferrin-like 1.		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	ENST00000402696.3	37	c.263A>C	CCDS3080.1	.	.	.	.	.	.	.	.	.	.	A	10.76	1.442139	0.25987	.	.	ENSG00000091513	ENST00000402696;ENST00000466911	T;T	0.34275	1.37;1.37	4.99	4.99	0.66335	.	0.263863	0.44483	D	0.000449	T	0.40791	0.1131	L	0.37561	1.115	0.58432	D	0.999998	P	0.37824	0.609	P	0.47603	0.551	T	0.36578	-0.9742	10	0.66056	D	0.02	-23.0311	14.0929	0.65002	1.0:0.0:0.0:0.0	.	88	P02787	TRFE_HUMAN	A	88;44	ENSP00000385834:D88A;ENSP00000417468:D44A	ENSP00000385834:D88A	D	+	2	0	TF	134955175	0.999000	0.42202	0.272000	0.24630	0.017000	0.09413	4.795000	0.62489	2.225000	0.72522	0.459000	0.35465	GAT		0.527	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063		6	92	0	0	0	1	0	6	92				
PNPLA7	375775	broad.mit.edu	37	9	140442090	140442090	+	Intron	SNP	C	C	T	rs201390415		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr9:140442090C>T	ENST00000277531.4	-	2	217				AL365502.1_ENST00000580317.1_RNA|PNPLA7_ENST00000406427.1_Missense_Mutation_p.A18T	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7						lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GAGTGCAGGGCGGTGCCCAGG	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20217	0.0		0.0	False		,,,				2504	0.0					ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(52-54)Gcc>Acc		patatin-like phospholipase domain containing 7							89.0	99.0	96.0					9																	140442090		2180	4279	6459	SO:0001627	intron_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140442090C>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.31-242G>A	9.37:g.140442090C>T						PNPLA7_ENST00000277531.4_Intron	p.A18T	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	2	388	-	all_cancers(76;0.126)		10					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	c.52G>A	CCDS7045.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.749	1.166854	0.21621	.	.	ENSG00000130653	ENST00000406427;ENST00000371450	T	0.58506	0.33	4.09	-8.19	0.01049	.	.	.	.	.	T	0.31575	0.0801	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27123	-1.0083	8	0.13853	T	0.58	.	9.5156	0.39104	0.0:0.532:0.0991:0.3689	.	18	Q6ZV29-5	.	T	18	ENSP00000384610:A18T	ENSP00000360505:A18T	A	-	1	0	PNPLA7	139561911	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.059000	0.00303	-2.019000	0.00942	-0.244000	0.11960	GCC		0.627	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		9	113	0	0	0	1	0	9	113				
GPR39	2863	broad.mit.edu	37	2	133402927	133402927	+	Silent	SNP	C	C	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr2:133402927C>T	ENST00000329321.3	+	2	1579	c.1110C>T	c.(1108-1110)caC>caT	p.H370H	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	370					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACGCCAACCACGAGAAGCGCC	0.667																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1108-1110)caC>caT		G protein-coupled receptor 39							51.0	51.0	51.0					2																	133402927		2203	4300	6503	SO:0001819	synonymous_variant	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133402927C>T	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.1110C>T	2.37:g.133402927C>T						LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	p.H370H	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			2	1579	+			370					B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	c.1110C>T	CCDS2170.1																																																																																				0.667	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			9	65	0	0	0	1	0	9	65				
BRPF1	7862	broad.mit.edu	37	3	9775848	9775848	+	Silent	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr3:9775848G>A	ENST00000457855.1	+	1	35	c.24G>A	c.(22-24)aaG>aaA	p.K8K	BRPF1_ENST00000433861.2_Silent_p.K8K|BRPF1_ENST00000424362.1_Silent_p.K8K|BRPF1_ENST00000383829.2_Silent_p.K8K|BRPF1_ENST00000302054.3_Silent_p.K8K			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	8					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TTGATGTGAAGACTTTCTGCC	0.517																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(22-24)aaG>aaA		bromodomain and PHD finger containing, 1							101.0	103.0	102.0					3																	9775848		2203	4300	6503	SO:0001819	synonymous_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9775848G>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.24G>A	3.37:g.9775848G>A						BRPF1_ENST00000433861.2_Silent_p.K8K|BRPF1_ENST00000457855.1_Silent_p.K8K|BRPF1_ENST00000302054.3_Silent_p.K8K|BRPF1_ENST00000424362.1_Silent_p.K8K	p.K8K	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			2	428	+	Medulloblastoma(99;0.227)		8					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	c.24G>A	CCDS2575.1																																																																																				0.517	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		4	71	0	0	0	1	0	4	71				
TP53	7157	broad.mit.edu	37	17	7577100	7577100	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr17:7577100T>C	ENST00000269305.4	-	8	1027	c.838A>G	c.(838-840)Aga>Gga	p.R280G	TP53_ENST00000359597.4_Missense_Mutation_p.R280G|TP53_ENST00000420246.2_Missense_Mutation_p.R280G|TP53_ENST00000455263.2_Missense_Mutation_p.R280G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280G	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		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.R280G(20)|p.0?(8)|p.R280*(8)|p.?(2)|p.G279fs*65(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*65(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)	CGCCGGTCTCTCCCAGGACAG	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		54	Substitution - Missense(20)|Deletion - In frame(8)|Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Unknown(2)	p.R280G(20)|p.0?(8)|p.R280*(8)|p.?(2)|p.G279fs*65(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*65(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	upper_aerodigestive_tract(11)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(5)|lung(5)|urinary_tract(4)|breast(4)|bone(4)|stomach(3)|ovary(3)|liver(3)|large_intestine(2)|oesophagus(2)|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						c.(838-840)Aga>Gga	Other conserved DNA damage response genes	tumor protein p53							76.0	66.0	69.0					17																	7577100		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.chr17:7577100T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.838A>G	17.37:g.7577100T>C	ENSP00000269305:p.Arg280Gly	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_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280G|TP53_ENST00000359597.4_Missense_Mutation_p.R280G|TP53_ENST00000455263.2_Missense_Mutation_p.R280G|TP53_ENST00000269305.4_Missense_Mutation_p.R280G	p.R280G	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	970	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).	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.838A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099805	0.76983	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.13	5.13	0.70059	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	0.99876	0.9941	M	0.92649	3.33	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;0.996	D;D;D;D	0.97110	0.984;1.0;0.984;0.977	D	0.96385	0.9284	10	0.87932	D	0	-21.0303	12.9367	0.58319	0.0:0.0:0.0:1.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	280;280;280;280;280;269;148	ENSP00000352610:R280G;ENSP00000269305:R280G;ENSP00000398846:R280G;ENSP00000391127:R280G;ENSP00000391478:R280G;ENSP00000425104:R148G	ENSP00000269305:R280G	R	-	1	2	TP53	7517825	0.650000	0.27331	1.000000	0.80357	0.981000	0.71138	0.781000	0.26774	2.154000	0.67381	0.379000	0.24179	AGA		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	45	0	0	0	1	0	7	45				
ZMIZ2	83637	broad.mit.edu	37	7	44802519	44802519	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr7:44802519G>A	ENST00000309315.4	+	12	1759	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.V520I|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.V488I|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.V514I|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.V546I	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	546					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCGCCCATCCGTCCGCTCGGT	0.647																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1636-1638)Gtc>Atc		zinc finger, MIZ-type containing 2							162.0	176.0	171.0					7																	44802519		2203	4300	6503	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44802519G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1636G>A	7.37:g.44802519G>A	ENSP00000311778:p.Val546Ile					ZMIZ2_ENST00000441627.1_Missense_Mutation_p.V546I|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.V520I|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.V488I|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.V514I	p.V546I	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			12	1759	+			546					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.1636G>A	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810866	0.90707	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.38240	1.18;1.15;1.15;1.15;1.19	4.17	4.17	0.49024	.	0.000000	0.49916	D	0.000126	T	0.52041	0.1710	L	0.49640	1.575	0.80722	D	1	D;D;D	0.71674	0.983;0.998;0.994	P;P;D	0.63488	0.83;0.89;0.915	T	0.56408	-0.7984	10	0.62326	D	0.03	-14.0801	16.2678	0.82600	0.0:0.0:1.0:0.0	.	520;546;488	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	I	488;546;546;514;520;549	ENSP00000409648:V488I;ENSP00000311778:V546I;ENSP00000414723:V546I;ENSP00000396601:V514I;ENSP00000265346:V520I	ENSP00000265346:V520I	V	+	1	0	ZMIZ2	44769044	1.000000	0.71417	0.984000	0.44739	0.893000	0.52053	9.083000	0.94067	2.155000	0.67459	0.462000	0.41574	GTC		0.647	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		6	369	0	0	0	1	0	6	369				
FAM208B	54906	broad.mit.edu	37	10	5784212	5784212	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr10:5784212A>G	ENST00000328090.5	+	14	3105	c.2480A>G	c.(2479-2481)aAt>aGt	p.N827S	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	827																	GTGTCTATAAATAGCACGTTA	0.413																																						ENST00000328090.5																			0											c.(2479-2481)aAt>aGt		family with sequence similarity 208, member B							108.0	101.0	103.0					10																	5784212		1861	4092	5953	SO:0001583	missense	54906							g.chr10:5784212A>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2480A>G	10.37:g.5784212A>G	ENSP00000328426:p.Asn827Ser					RP11-336A10.2_ENST00000411512.2_RNA	p.N827S	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN			14	3105	+			827					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.2480A>G	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005157	0.74932	.	.	ENSG00000108021	ENST00000328090	D	0.97731	-4.51	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000002	D	0.98495	0.9498	M	0.74881	2.28	0.34042	D	0.655109	D	0.89917	1.0	D	0.78314	0.991	D	0.99979	1.2369	10	0.66056	D	0.02	.	15.652	0.77104	1.0:0.0:0.0:0.0	.	827	Q5VWN6	F208B_HUMAN	S	827	ENSP00000328426:N827S	ENSP00000328426:N827S	N	+	2	0	C10orf18	5824218	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	5.914000	0.69964	2.176000	0.68965	0.533000	0.62120	AAT		0.413	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782		5	83	0	0	0	1	0	5	83				
FAM183B	340286	broad.mit.edu	37	7	38725357	38725357	+	Silent	SNP	C	C	T	rs561171468		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr7:38725357C>T	ENST00000409072.3	-	2	1183	c.249G>A	c.(247-249)ccG>ccA	p.P83P				Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B	83										endometrium(1)|lung(7)	8						TCTGTGCCTCCGGGTACTTCT	0.552													c|||	1	0.000199681	0.0	0.0	5008	,	,		17687	0.001		0.0	False		,,,				2504	0.0					ENST00000409072.3																			0				endometrium(1)|lung(7)	8						c.(247-249)ccG>ccA		family with sequence similarity 183, member B							121.0	123.0	123.0					7																	38725357		1940	4128	6068	SO:0001819	synonymous_variant	340286							g.chr7:38725357C>T	AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.249G>A	7.37:g.38725357C>T							p.P83P							2	1183	-								A4D1Y1	Silent	SNP	ENST00000409072.3	37	c.249G>A																																																																																					0.552	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	NM_001105282		4	146	0	0	0	1	0	4	146				
GRM8	2918	broad.mit.edu	37	7	126173527	126173527	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr7:126173527A>T	ENST00000339582.2	-	9	2717	c.1909T>A	c.(1909-1911)Ttt>Att	p.F637I	GRM8_ENST00000358373.3_Missense_Mutation_p.F637I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.F637I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	637					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				ATCATTAAAAACGTGATTGAA	0.463										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1909-1911)Ttt>Att		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						90.0	91.0	91.0					7																	126173527		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173527A>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1909T>A	7.37:g.126173527A>T	ENSP00000344173:p.Phe637Ile	HNSCC(24;0.065)				GRM8_ENST00000444921.2_Missense_Mutation_p.F637I|GRM8_ENST00000358373.3_Missense_Mutation_p.F637I|GRM8_ENST00000480995.1_5'UTR	p.F637I			O00222	GRM8_HUMAN			9	2717	-		Prostate(267;0.186)	637					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1909T>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500152	0.85176	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88277	-2.36;-2.36;-2.36	5.73	5.73	0.89815	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93468	0.7916	M	0.69248	2.105	0.80722	D	1	D;P	0.67145	0.996;0.846	D;P	0.77557	0.99;0.557	D	0.93778	0.7081	10	0.59425	D	0.04	.	15.2088	0.73202	1.0:0.0:0.0:0.0	.	637;637	O00222-2;O00222	.;GRM8_HUMAN	I	637	ENSP00000344173:F637I;ENSP00000409790:F637I;ENSP00000351142:F637I	ENSP00000344173:F637I	F	-	1	0	GRM8	125960763	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.331000	0.96430	2.199000	0.70637	0.523000	0.50628	TTT		0.463	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			6	65	0	0	0	1	0	6	65				
MPP7	143098	broad.mit.edu	37	10	28378644	28378644	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr10:28378644T>C	ENST00000375732.1	-	12	1338	c.1079A>G	c.(1078-1080)tAt>tGt	p.Y360C	MPP7_ENST00000540098.1_Missense_Mutation_p.Y360C|MPP7_ENST00000337532.5_Missense_Mutation_p.Y360C|MPP7_ENST00000375719.3_Missense_Mutation_p.Y360C|MPP7_ENST00000445954.2_Missense_Mutation_p.Y235C			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	360					establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTGTCGCCGATACGGTGTCAC	0.383																																						ENST00000337532.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(1078-1080)tAt>tGt		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							351.0	287.0	309.0					10																	28378644		2203	4300	6503	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28378644T>C	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1079A>G	10.37:g.28378644T>C	ENSP00000364884:p.Tyr360Cys					MPP7_ENST00000445954.2_Missense_Mutation_p.Y235C|MPP7_ENST00000375732.1_Missense_Mutation_p.Y360C|MPP7_ENST00000375719.3_Missense_Mutation_p.Y360C|MPP7_ENST00000540098.1_Missense_Mutation_p.Y360C	p.Y360C	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN			13	1355	-			360					B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.1079A>G	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201129	0.58234	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595;ENST00000445954	T;T;T;T;T;T	0.34072	2.56;2.56;2.56;2.56;1.38;1.76	5.64	5.64	0.86602	.	0.054228	0.85682	D	0.000000	T	0.62841	0.2461	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.68352	-0.5431	10	0.87932	D	0	.	15.8552	0.78972	0.0:0.0:0.0:1.0	.	360	Q5T2T1	MPP7_HUMAN	C	360;360;360;360;121;235	ENSP00000364884:Y360C;ENSP00000337907:Y360C;ENSP00000438693:Y360C;ENSP00000364871:Y360C;ENSP00000398319:Y121C;ENSP00000405397:Y235C	ENSP00000337907:Y360C	Y	-	2	0	MPP7	28418650	1.000000	0.71417	0.906000	0.35671	0.255000	0.26057	7.692000	0.84203	2.138000	0.66242	0.533000	0.62120	TAT		0.383	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		15	140	0	0	0	1	0	15	140				
NRXN3	9369	broad.mit.edu	37	14	80328223	80328223	+	Silent	SNP	C	C	T	rs138628835		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr14:80328223C>T	ENST00000557594.1	+	6	2783	c.1830C>T	c.(1828-1830)aaC>aaT	p.N610N	NRXN3_ENST00000281127.7_Silent_p.N405N|NRXN3_ENST00000335750.5_Silent_p.N1034N|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Silent_p.N1034N|NRXN3_ENST00000428277.2_Silent_p.N432N	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	610					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)	p.N432N(1)|p.N1034N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCCAGAGCAACGGCACGCTCA	0.527																																						ENST00000281127.7																			2	Substitution - coding silent(2)	p.N432N(1)|p.N1034N(1)	endometrium(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(1213-1215)aaC>aaT		neurexin 3		C	,,	0,4406		0,0,2203	88.0	83.0	85.0		1296,3102,1215	3.1	1.0	14	dbSNP_134	85	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	NRXN3	NM_001105250.1,NM_004796.4,NM_138970.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	432/460,1034/1062,405/433	80328223	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80328223C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.1830C>T	14.37:g.80328223C>T						NRXN3_ENST00000335750.5_Silent_p.N1034N|NRXN3_ENST00000554719.1_Silent_p.N1034N|NRXN3_ENST00000428277.2_Silent_p.N432N|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Silent_p.N610N	p.N405N	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	6	2094	+		Renal(4;0.00876)	610					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Silent	SNP	ENST00000557594.1	37	c.1215C>T																																																																																					0.527	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		7	40	0	0	0	1	0	7	40				
AVPR1A	552	broad.mit.edu	37	12	63543951	63543951	+	Silent	SNP	G	G	A			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr12:63543951G>A	ENST00000299178.2	-	1	771	c.666C>T	c.(664-666)ggC>ggT	p.G222G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	222					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CAAAGATGCCGCCCGTCATCC	0.612																																						ENST00000299178.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(664-666)ggC>ggT		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						63.0	66.0	65.0					12																	63543951		2203	4300	6503	SO:0001819	synonymous_variant	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543951G>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.666C>T	12.37:g.63543951G>A							p.G222G	NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	771	-			222						Silent	SNP	ENST00000299178.2	37	c.666C>T	CCDS8965.1																																																																																				0.612	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			12	130	0	0	0	1	0	12	130				
VCAN	1462	broad.mit.edu	37	5	82815556	82815556	+	Silent	SNP	C	C	A	rs369643543		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr5:82815556C>A	ENST00000265077.3	+	7	1996	c.1431C>A	c.(1429-1431)gtC>gtA	p.V477V	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.V477V|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.V429V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	477	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GGGATGGTGTCGTGGAAGATA	0.413																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(1429-1431)gtC>gtA		versican							113.0	113.0	113.0					5																	82815556		2203	4299	6502	SO:0001819	synonymous_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82815556C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1431C>A	5.37:g.82815556C>A						VCAN_ENST00000342785.4_Silent_p.V477V|VCAN_ENST00000512590.2_Silent_p.V429V|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	p.V477V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	1996	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	477			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	c.1431C>A	CCDS4060.1																																																																																				0.413	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		5	116	1	0	0.217242	1	0.220988	5	116				
TTLL12	23170	broad.mit.edu	37	22	43576832	43576832	+	Silent	SNP	G	G	A	rs142812212	byFrequency	TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr22:43576832G>A	ENST00000216129.6	-	3	525	c.462C>T	c.(460-462)caC>caT	p.H154H		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	154					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCAGCTCACCGTGGAACTCAA	0.652													G|||	22	0.00439297	0.0	0.0	5008	,	,		17927	0.0208		0.0	False		,,,				2504	0.001					ENST00000216129.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13						c.(460-462)caC>caT		tubulin tyrosine ligase-like family, member 12							87.0	72.0	77.0					22																	43576832		2203	4300	6503	SO:0001819	synonymous_variant	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43576832G>A	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.462C>T	22.37:g.43576832G>A							p.H154H	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN			3	525	-		Ovarian(80;0.221)|Glioma(61;0.222)	154					Q20WK5|Q9UGU3	Silent	SNP	ENST00000216129.6	37	c.462C>T	CCDS14047.1																																																																																				0.652	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		4	139	0	0	0	1	0	4	139				
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	lincRNA	DEL	GAG	GAG	-			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547																																						ENST00000502400.1																			0																																																			101927237							g.chr4:68311853_68311855delGAG																													4.37:g.68311862_68311864delGAG														0	34	-									RNA	DEL	ENST00000502400.1	37																																																																																						0.547	RP11-584P21.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000361926.2			2	4						2	4	---	---	---	---
INCENP	3619	broad.mit.edu	37	11	61919392	61919392	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr11:61919392delC	ENST00000394818.3	+	19	2903	c.2701delC	c.(2701-2703)cccfs	p.P901fs	INCENP_ENST00000278849.4_Frame_Shift_Del_p.P897fs	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	901					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAACTCACCGCCCCTGCAGGG	0.612																																						ENST00000394818.3																			0				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2701-2703)ccfs		inner centromere protein antigens 135/155kDa							42.0	43.0	43.0					11																	61919392		2202	4299	6501	SO:0001589	frameshift_variant	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61919392delC	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.2701delC	11.37:g.61919392delC	ENSP00000378295:p.Pro901fs					INCENP_ENST00000278849.4_Frame_Shift_Del_p.P897fs	p.P901fs	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN			19	2903	+			901					A8MQD2|Q5Y192	Frame_Shift_Del	DEL	ENST00000394818.3	37	c.2701delC	CCDS44624.1																																																																																				0.612	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		12	51						12	51	---	---	---	---
VAV1	7409	broad.mit.edu	37	19	6826656	6826656	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr19:6826656delG	ENST00000602142.1	+	9	943	c.861delG	c.(859-861)gtgfs	p.V287fs	VAV1_ENST00000304076.2_Frame_Shift_Del_p.V287fs|VAV1_ENST00000539284.1_Frame_Shift_Del_p.V190fs|VAV1_ENST00000599806.1_Frame_Shift_Del_p.V232fs|VAV1_ENST00000596764.1_Frame_Shift_Del_p.V255fs	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	287	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCAGCCAGGTGGAGTCAGCCA	0.652																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(859-861)gtfs		vav 1 guanine nucleotide exchange factor							61.0	47.0	52.0					19																	6826656		2178	4265	6443	SO:0001589	frameshift_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6826656delG		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.861delG	19.37:g.6826656delG	ENSP00000472929:p.Val287fs					VAV1_ENST00000596764.1_Frame_Shift_Del_p.V255fs|VAV1_ENST00000539284.1_Frame_Shift_Del_p.V190fs|VAV1_ENST00000602142.1_Frame_Shift_Del_p.V287fs|VAV1_ENST00000599806.1_Frame_Shift_Del_p.V232fs	p.V287fs	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			9	955	+			287			DH.		B4DVK9|M0QXX6|Q15860	Frame_Shift_Del	DEL	ENST00000602142.1	37	c.861delG	CCDS12174.1																																																																																				0.652	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			2	4						2	4	---	---	---	---
CCDC155	147872	broad.mit.edu	37	19	49920666	49920668	+	In_Frame_Del	DEL	CTG	CTG	-	rs139882972		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr19:49920666_49920668delCTG	ENST00000447857.3	+	20	1793_1795	c.1588_1590delCTG	c.(1588-1590)ctgdel	p.L536del		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	536	Poly-Leu.					chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TGTCCTGGGCctgctgctgctgc	0.65																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(1588-1590)del		coiled-coil domain containing 155				2,210,3744		1,0,0,70,70,1837						-4.5	0.9		dbSNP_134	52	8,291,7573		1,0,6,67,157,3705	no	codingComplex	CCDC155	NM_144688.4		2,0,6,137,227,5542	A1A1,A1A2,A1R,A2A2,A2R,RR		3.7983,5.3589,4.3203				10,501,11317				SO:0001651	inframe_deletion	147872					integral to membrane	calcium ion binding	g.chr19:49920666_49920668delCTG		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1588_1590delCTG	19.37:g.49920675_49920677delCTG	ENSP00000404220:p.Leu536del						p.L536del	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			20	1793_1795	+			536			Poly-Leu.		Q96MC3	In_Frame_Del	DEL	ENST00000447857.3	37	c.1588_1590delCTG	CCDS46140.1																																																																																				0.650	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085835	11085837	+	RNA	DEL	CAT	CAT	-	rs199904990		TCGA-BA-A6DG-01A-21D-A30E-08	TCGA-BA-A6DG-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84143e33-a1f9-4c89-b183-4da5a2e2b629	129e60bd-a400-4139-813f-bc4c93ac9704	g.chr21:11085835_11085837delCAT	ENST00000470054.1	-	0	324							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)		ccaccatcaccatcaccaccacc	0.586																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085835_11085837delCAT	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.11085835_11085837delCAT												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	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.586	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
