#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
LSP1	4046	broad.mit.edu	37	11	1901362	1901362	+	Missense_Mutation	SNP	C	C	A	rs150172209		TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:1901362C>A	ENST00000311604.3	+	2	274	c.99C>A	c.(97-99)caC>caA	p.H33Q	LSP1_ENST00000405957.2_5'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.H161Q|LSP1_ENST00000406638.2_5'UTR	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	33					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGGCCGTCCACGAGCAATGCC	0.647																																						ENST00000381775.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(481-483)caC>caA		lymphocyte-specific protein 1							80.0	64.0	70.0					11																	1901362		2202	4299	6501	SO:0001583	missense	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1901362C>A	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.99C>A	11.37:g.1901362C>A	ENSP00000308383:p.His33Gln					LSP1_ENST00000406638.2_5'UTR|LSP1_ENST00000405957.2_5'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.H33Q	p.H161Q	NM_001242932.1	NP_001229861.1	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	3	591	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	33					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	37	c.483C>A	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	6.630	0.484764	0.12641	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000457279;ENST00000429923;ENST00000418975	T;T;T;T;T	0.42513	2.02;1.94;2.01;1.59;0.97	3.54	-6.11	0.02131	.	0.605277	0.11938	U	0.515027	T	0.14657	0.0354	N	0.08118	0	0.25681	N	0.985798	B;B	0.24092	0.097;0.048	B;B	0.15870	0.014;0.014	T	0.09314	-1.0680	10	0.59425	D	0.04	-0.8546	1.1985	0.01880	0.2443:0.1228:0.1513:0.4815	.	161;33	E9PFP3;P33241	.;LSP1_HUMAN	Q	33;161;24;16;51	ENSP00000308383:H33Q;ENSP00000371194:H161Q;ENSP00000400346:H24Q;ENSP00000400999:H16Q;ENSP00000403460:H51Q	ENSP00000308383:H33Q	H	+	3	2	LSP1	1857938	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.051000	0.01402	-1.156000	0.02818	-1.337000	0.01257	CAC		0.647	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		8	34	1	0	0.000157383	1	0.000165968	8	34				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	145	0	0	0	1	0	5	145				
TBCD	6904	broad.mit.edu	37	17	80739569	80739569	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr17:80739569T>C	ENST00000355528.4	+	7	873	c.743T>C	c.(742-744)aTc>aCc	p.I248T	TBCD_ENST00000539345.2_Missense_Mutation_p.I248T|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	248					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CAGGGGGTCATCACCATGGAT	0.587											OREG0024827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000355528.4																			0											c.(742-744)aTc>aCc		tubulin folding cofactor D							79.0	81.0	81.0					17																	80739569		2097	4224	6321	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80739569T>C	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.743T>C	17.37:g.80739569T>C	ENSP00000347719:p.Ile248Thr		OREG0024827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.I248T	p.I248T	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		7	873	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	248					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.743T>C	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	T	8.818	0.936760	0.18206	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000536182	T	0.68331	-0.32	5.45	5.45	0.79879	Armadillo-type fold (1);	.	.	.	.	T	0.56601	0.1996	L	0.41027	1.25	0.80722	D	1	B;B;B	0.18166	0.026;0.01;0.013	B;B;B	0.16289	0.005;0.004;0.015	T	0.52215	-0.8605	8	.	.	.	.	13.5081	0.61495	0.0:0.0:0.0:1.0	.	248;248;248	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	T	248;231;248	ENSP00000347719:I248T	.	I	+	2	0	TBCD	78332858	1.000000	0.71417	0.959000	0.39883	0.054000	0.15201	5.316000	0.65815	2.082000	0.62665	0.451000	0.29950	ATC		0.587	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		19	66	0	0	0	1	0	19	66				
TIAM1	7074	broad.mit.edu	37	21	32526716	32526716	+	Missense_Mutation	SNP	C	C	T	rs77092908	byFrequency	TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr21:32526716C>T	ENST00000286827.3	-	18	3491	c.3020G>A	c.(3019-3021)cGc>cAc	p.R1007H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R947H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1007			R -> H (in dbSNP:rs77092908). {ECO:0000269|PubMed:22100072}.		apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATGCAAACTGCGGCAAAATGC	0.577													C|||	7	0.00139776	0.0053	0.0	5008	,	,		19064	0.0		0.0	False		,,,				2504	0.0					ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(3019-3021)cGc>cAc		T-cell lymphoma invasion and metastasis 1		C	HIS/ARG	23,4383	29.9+/-59.1	1,21,2181	127.0	114.0	118.0		3020	4.5	1.0	21	dbSNP_131	118	0,8600		0,0,4300	yes	missense	TIAM1	NM_003253.2	29	1,21,6481	TT,TC,CC		0.0,0.522,0.1768	probably-damaging	1007/1592	32526716	23,12983	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32526716C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.3020G>A	21.37:g.32526716C>T	ENSP00000286827:p.Arg1007His					TIAM1_ENST00000541036.1_Missense_Mutation_p.R947H	p.R1007H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			18	3491	-			1007					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.3020G>A	CCDS13609.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	27.6	4.848438	0.91277	0.00522	0.0	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.49139	0.79;0.82	5.41	4.46	0.54185	.	0.056451	0.64402	D	0.000001	T	0.47322	0.1439	L	0.31752	0.955	0.80722	D	1	D;D;D	0.76494	0.999;0.96;0.999	D;B;P	0.63703	0.917;0.325;0.828	T	0.55761	-0.8090	10	0.66056	D	0.02	.	16.8018	0.85616	0.137:0.863:0.0:0.0	.	947;947;1007	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	H	1007;848;947	ENSP00000286827:R1007H;ENSP00000441570:R947H	ENSP00000286827:R1007H	R	-	2	0	TIAM1	31448587	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.283000	0.78640	2.826000	0.97356	0.655000	0.94253	CGC		0.577	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		4	105	0	0	0	1	0	4	105				
CROCCP2	84809	broad.mit.edu	37	1	16946532	16946532	+	lincRNA	SNP	G	G	C			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:16946532G>C	ENST00000412962.1	-	0	1000				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGGGGGCCAGGACTGGACGCG	0.682																																						ENST00000412962.1																			0																																																			0							g.chr1:16946532G>C	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946532G>C														0	1000	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.682	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	17	0	0	0	1	0	4	17				
PTRH1	138428	broad.mit.edu	37	9	130477855	130477855	+	Silent	SNP	A	A	G			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr9:130477855A>G	ENST00000419060.1	-	2	1520	c.64T>C	c.(64-66)Ttg>Ctg	p.L22L	PTRH1_ENST00000429848.1_5'Flank|TTC16_ENST00000373289.3_5'Flank|C9orf117_ENST00000464092.1_3'UTR|PTRH1_ENST00000543175.1_Silent_p.L22L|TTC16_ENST00000393748.4_5'Flank|C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000423807.1_Silent_p.L22L			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	22						mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)|poly(A) RNA binding (GO:0044822)			NS(1)	1						CGAGGCTCCAAAACACATCGG	0.677																																						ENST00000419060.1																			0				NS(1)	1						c.(64-66)Ttg>Ctg		peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)							45.0	47.0	47.0					9																	130477855		2203	4300	6503	SO:0001819	synonymous_variant	138428				translation		aminoacyl-tRNA hydrolase activity|protein binding	g.chr9:130477855A>G	AK090922	CCDS35147.1	9q34.11	2006-02-13	2006-02-13	2006-02-13	ENSG00000187024	ENSG00000187024			27039	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 115"""	C9orf115			Standard	NM_001002913		Approved	PTH1	uc004bro.3	Q86Y79	OTTHUMG00000020710	ENST00000419060.1:c.64T>C	9.37:g.130477855A>G						C9orf117_ENST00000464092.1_3'UTR|PTRH1_ENST00000423807.1_Silent_p.L22L|C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000543175.1_Silent_p.L22L	p.L22L			Q86Y79	PTH_HUMAN			2	1520	-			22						Silent	SNP	ENST00000419060.1	37	c.64T>C	CCDS35147.1																																																																																				0.677	PTRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054219.4	NM_001002913		14	24	0	0	0	1	0	14	24				
GUSBP11	91316	broad.mit.edu	37	22	23980782	23980782	+	RNA	SNP	G	G	A			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr22:23980782G>A	ENST00000455485.1	-	0	3707				AP000347.4_ENST00000430707.2_RNA|KB-1572G7.3_ENST00000390329.3_RNA			Q6P575	BGP11_HUMAN	glucuronidase, beta pseudogene 11						carbohydrate metabolic process (GO:0005975)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										GCAGCTCCAGGCCCCTGTGGG	0.567																																						ENST00000390329.2																			0																																																			0							g.chr22:23980782G>A			22q11.23	2011-06-09			ENSG00000228315	ENSG00000228315			42325	pseudogene	pseudogene							Standard	NR_024448		Approved		uc011aiz.2	Q6P575	OTTHUMG00000150709		22.37:g.23980782G>A						AP000347.4_ENST00000430707.2_RNA								0	191	-									RNA	SNP	ENST00000455485.1	37																																																																																						0.567	GUSBP11-005	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000319697.1			9	17	0	0	0	1	0	9	17				
SGIP1	84251	broad.mit.edu	37	1	67154846	67154846	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:67154846C>T	ENST00000371037.4	+	16	1408	c.1331C>T	c.(1330-1332)gCt>gTt	p.A444V	SGIP1_ENST00000371039.1_Missense_Mutation_p.A245V|SGIP1_ENST00000237247.6_Missense_Mutation_p.A475V|SGIP1_ENST00000371035.3_Missense_Mutation_p.A234V|SGIP1_ENST00000371036.3_Missense_Mutation_p.A244V	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	444	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCATCCCCTGCTCGACCAGCC	0.537																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1330-1332)gCt>gTt		SH3-domain GRB2-like (endophilin) interacting protein 1							205.0	209.0	208.0					1																	67154846		2203	4300	6503	SO:0001583	missense	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67154846C>T	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1331C>T	1.37:g.67154846C>T	ENSP00000360076:p.Ala444Val					SGIP1_ENST00000371035.3_Missense_Mutation_p.A234V|SGIP1_ENST00000371036.3_Missense_Mutation_p.A244V|SGIP1_ENST00000371039.1_Missense_Mutation_p.A245V|SGIP1_ENST00000237247.6_Missense_Mutation_p.A475V	p.A444V	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			16	1408	+			444			Pro-rich.		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	c.1331C>T	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.601494	0.46423	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95	6.17	5.26	0.73747	.	0.222286	0.46758	N	0.000272	T	0.01454	0.0047	L	0.31926	0.97	0.32869	D	0.50905	P;B;B;B	0.34864	0.473;0.003;0.001;0.022	B;B;B;B	0.26416	0.069;0.003;0.003;0.004	T	0.49428	-0.8941	10	0.45353	T	0.12	-17.8615	14.6863	0.69052	0.0:0.9297:0.0:0.0703	.	474;44;234;444	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	V	475;245;234;474;447;244;444	ENSP00000237247:A475V;ENSP00000360078:A245V;ENSP00000360074:A234V;ENSP00000360075:A244V;ENSP00000360076:A444V	ENSP00000237247:A475V	A	+	2	0	SGIP1	66927434	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	5.149000	0.64863	1.626000	0.50381	0.655000	0.94253	GCT		0.537	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		8	382	0	0	0	1	0	8	382				
RBM39	9584	broad.mit.edu	37	20	34312500	34312500	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr20:34312500C>T	ENST00000253363.6	-	8	702	c.679G>A	c.(679-681)Gca>Aca	p.A227T	RBM39_ENST00000528062.3_Missense_Mutation_p.A205T|RBM39_ENST00000361162.6_Missense_Mutation_p.A227T|RBM39_ENST00000407261.4_Missense_Mutation_p.A70T			Q14498	RBM39_HUMAN	RNA binding motif protein 39	227	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A227T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					ACCTGTGATGCCTGTACTATG	0.433																																						ENST00000361162.6																			1	Substitution - Missense(1)	p.A227T(1)	skin(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(679-681)Gca>Aca		RNA binding motif protein 39							115.0	104.0	108.0					20																	34312500		2203	4300	6503	SO:0001583	missense	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34312500C>T	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.679G>A	20.37:g.34312500C>T	ENSP00000253363:p.Ala227Thr					RBM39_ENST00000253363.6_Missense_Mutation_p.A227T|RBM39_ENST00000407261.4_Missense_Mutation_p.A70T|RBM39_ENST00000528062.3_Missense_Mutation_p.A205T	p.A227T	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN			8	1063	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		227			RRM 1.		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Missense_Mutation	SNP	ENST00000253363.6	37	c.679G>A	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.989288|3.989288	0.74589|0.74589	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261;ENST00000374038|ENST00000448303	T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;3.37;0.98|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68238|0.68238	0.2979|0.2979	L|L	0.42632|0.42632	1.34|1.34	0.80722|0.80722	D|D	1|1	P;P;P;P;B|.	0.50943|.	0.94;0.94;0.939;0.94;0.404|.	P;P;P;P;B|.	0.52267|.	0.601;0.694;0.583;0.694;0.184|.	T|T	0.63400|0.63400	-0.6646|-0.6646	10|5	0.22706|.	T|.	0.39|.	.|.	19.5083|19.5083	0.95130|0.95130	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	205;205;227;227;203|.	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7|.	.;.;.;RBM39_HUMAN;.|.	T|D	227;227;205;70;226|99	ENSP00000253363:A227T;ENSP00000354437:A227T;ENSP00000436747:A205T;ENSP00000384541:A70T;ENSP00000363150:A226T|.	ENSP00000253363:A227T|.	A|G	-|-	1|2	0|0	RBM39|RBM39	33775914|33775914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.767000|7.767000	0.85331|0.85331	2.672000|2.672000	0.90937|0.90937	0.558000|0.558000	0.71614|0.71614	GCA|GGC		0.433	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		20	58	0	0	0	1	0	20	58				
ATP8B4	79895	broad.mit.edu	37	15	50168708	50168708	+	Missense_Mutation	SNP	G	G	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr15:50168708G>T	ENST00000284509.6	-	25	2935	c.2794C>A	c.(2794-2796)Cag>Aag	p.Q932K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q932K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	932						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACGCTGTTCTGGTCACTCACA	0.423																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(2794-2796)Cag>Aag		ATPase, class I, type 8B, member 4							89.0	88.0	88.0					15																	50168708		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50168708G>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2794C>A	15.37:g.50168708G>T	ENSP00000284509:p.Gln932Lys					ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q932K	p.Q932K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	25	2935	-		all_lung(180;0.00183)	932					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.2794C>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	5.507	0.278602	0.10458	.	.	ENSG00000104043	ENST00000284509	T	0.67698	-0.28	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.59569	0.2203	N	0.02658	-0.545	0.36978	D	0.894135	D;B	0.71674	0.998;0.007	D;B	0.70935	0.971;0.009	T	0.62756	-0.6787	10	0.11182	T	0.66	.	17.6957	0.88281	0.0:0.0:1.0:0.0	.	10;932	Q6PG43;Q8TF62	.;AT8B4_HUMAN	K	932	ENSP00000284509:Q932K	ENSP00000284509:Q932K	Q	-	1	0	ATP8B4	47956000	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	5.536000	0.67180	2.776000	0.95493	0.655000	0.94253	CAG		0.423	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		12	39	1	0	1.05317e-09	1	1.19772e-09	12	39				
SH2D3C	10044	broad.mit.edu	37	9	130506867	130506867	+	Silent	SNP	C	C	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr9:130506867C>T	ENST00000314830.8	-	7	1889	c.1776G>A	c.(1774-1776)cgG>cgA	p.R592R	SH2D3C_ENST00000373276.3_Silent_p.R524R|SH2D3C_ENST00000420366.1_Silent_p.R434R|SH2D3C_ENST00000373274.3_Silent_p.R432R|SH2D3C_ENST00000373277.4_Silent_p.R435R|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Silent_p.R238R	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	592	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGTGACATGCCGGGCCAGCG	0.632																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1774-1776)cgG>cgA		SH2 domain containing 3C							57.0	59.0	58.0					9																	130506867		2203	4300	6503	SO:0001819	synonymous_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130506867C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1776G>A	9.37:g.130506867C>T						SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373277.4_Silent_p.R435R|SH2D3C_ENST00000429553.1_Silent_p.R238R|SH2D3C_ENST00000420366.1_Silent_p.R434R|SH2D3C_ENST00000373276.3_Silent_p.R524R|SH2D3C_ENST00000373274.3_Silent_p.R432R	p.R592R	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			7	1889	-			592			Ras-GEF.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Silent	SNP	ENST00000314830.8	37	c.1776G>A	CCDS6877.1																																																																																				0.632	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		4	129	0	0	0	1	0	4	129				
HOXD4	3233	broad.mit.edu	37	2	177016758	177016758	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr2:177016758G>A	ENST00000306324.3	+	1	809	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	133					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCCGGCCGTGGTCTACCCCTG	0.672																																						ENST00000306324.3																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(397-399)Gtc>Atc		homeobox D4							37.0	47.0	44.0					2																	177016758		2134	4274	6408	SO:0001583	missense	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177016758G>A		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.397G>A	2.37:g.177016758G>A	ENSP00000302548:p.Val133Ile					HOXD3_ENST00000468418.3_5'UTR	p.V133I	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	809	+			133					B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	37	c.397G>A	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456909	0.43634	.	.	ENSG00000170166	ENST00000306324	D	0.90004	-2.6	3.98	3.98	0.46160	Homeobox protein, antennapedia type, conserved site (1);	0.000000	0.48286	U	0.000183	D	0.92734	0.7690	M	0.72118	2.19	0.80722	D	1	P	0.46952	0.887	P	0.57244	0.816	D	0.94000	0.7274	10	0.87932	D	0	.	16.4319	0.83847	0.0:0.0:1.0:0.0	.	133	P09016	HXD4_HUMAN	I	133	ENSP00000302548:V133I	ENSP00000302548:V133I	V	+	1	0	HOXD4	176725004	1.000000	0.71417	0.983000	0.44433	0.673000	0.39480	7.330000	0.79181	1.907000	0.55213	0.655000	0.94253	GTC		0.672	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			6	45	0	0	0	1	0	6	45				
STKLD1	169436	broad.mit.edu	37	9	136256483	136256483	+	Missense_Mutation	SNP	T	T	G			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr9:136256483T>G	ENST00000371957.3	+	7	601	c.494T>G	c.(493-495)cTc>cGc	p.L165R	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		165	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AACATCATCCTCATCAGCAGT	0.552																																						ENST00000371957.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25						c.(493-495)cTc>cGc		chromosome 9 open reading frame 96							266.0	263.0	264.0					9																	136256483		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136256483T>G																												ENST00000371957.3:c.494T>G	9.37:g.136256483T>G	ENSP00000361025:p.Leu165Arg					C9orf96_ENST00000371955.1_5'UTR	p.L165R	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	7	601	+			165			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.494T>G	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626661	0.28978	.	.	ENSG00000198870	ENST00000371957	T	0.71341	-0.56	4.34	4.34	0.51931	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.398358	0.20442	N	0.092268	D	0.84079	0.5393	M	0.87269	2.87	0.37480	D	0.915974	D	0.89917	1.0	D	0.80764	0.994	D	0.87446	0.2398	10	0.87932	D	0	-8.8141	9.8193	0.40871	0.0:0.0:0.0:1.0	.	165	Q8NE28	SGK71_HUMAN	R	165	ENSP00000361025:L165R	ENSP00000361025:L165R	L	+	2	0	C9orf96	135246304	0.086000	0.21541	0.002000	0.10522	0.190000	0.23558	3.980000	0.56895	1.826000	0.53198	0.459000	0.35465	CTC		0.552	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			17	335	0	0	0	1	0	17	335				
KRT27	342574	broad.mit.edu	37	17	38933946	38933946	+	Silent	SNP	A	A	G			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr17:38933946A>G	ENST00000301656.3	-	6	1051	c.1011T>C	c.(1009-1011)agT>agC	p.S337S	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27									p.S337R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CACAGTAGTTACTCTCGGTCT	0.527																																						ENST00000301656.3																			1	Substitution - Missense(1)	p.S337R(1)	kidney(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(1009-1011)agT>agC		keratin 27							147.0	146.0	147.0					17																	38933946		2203	4300	6503	SO:0001819	synonymous_variant	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38933946A>G	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1011T>C	17.37:g.38933946A>G						KRT27_ENST00000540723.1_5'UTR	p.S337S	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			6	1051	-		Breast(137;0.000812)	337			Coil 2.|Rod.			Silent	SNP	ENST00000301656.3	37	c.1011T>C	CCDS11375.1																																																																																				0.527	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		36	156	0	0	0	1	0	36	156				
CPS1	1373	broad.mit.edu	37	2	211438054	211438054	+	Silent	SNP	A	A	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr2:211438054A>T	ENST00000233072.5	+	2	355	c.159A>T	c.(157-159)ggA>ggT	p.G53G	CPS1_ENST00000430249.2_Silent_p.G59G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	53	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TGGAAGATGGAACTAAGATGA	0.418																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(157-159)ggA>ggT		carbamoyl-phosphate synthase 1, mitochondrial							210.0	199.0	203.0					2																	211438054		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211438054A>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.159A>T	2.37:g.211438054A>T						CPS1_ENST00000430249.2_Silent_p.G59G	p.G53G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	2	355	+			53			Anthranilate phosphoribosyltransferase homolog.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.159A>T	CCDS2393.1																																																																																				0.418	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			35	67	0	0	0	1	0	35	67				
WNT3A	89780	broad.mit.edu	37	1	228238397	228238397	+	Silent	SNP	C	C	T	rs151253698		TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:228238397C>T	ENST00000284523.1	+	3	432	c.354C>T	c.(352-354)gcC>gcT	p.A118A	WNT3A_ENST00000366753.2_Silent_p.A118A	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	118					axis elongation involved in somitogenesis (GO:0090245)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cellular response to retinoic acid (GO:0071300)|COP9 signalosome assembly (GO:0010387)|dorsal/ventral neural tube patterning (GO:0021904)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|mammary gland development (GO:0030879)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron projection development (GO:0010977)|neuron differentiation (GO:0030182)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesodermal cell fate commitment (GO:0048343)|platelet aggregation (GO:0070527)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000081)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dermatome development (GO:0061184)|positive regulation of mesodermal cell fate specification (GO:0048337)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of receptor internalization (GO:0002092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|regulation of microtubule cytoskeleton organization (GO:0070507)|skeletal muscle cell differentiation (GO:0035914)|spinal cord association neuron differentiation (GO:0021527)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription coactivator activity (GO:0003713)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TTGCCTCAGCCGGTGTGGCCT	0.622																																						ENST00000284523.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12						c.(352-354)gcC>gcT		wingless-type MMTV integration site family, member 3A		C		0,4406		0,0,2203	109.0	84.0	92.0		354	-9.1	0.3	1	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WNT3A	NM_033131.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		118/353	228238397	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89780				axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity	g.chr1:228238397C>T	AB060284	CCDS1564.1	1q42	2013-02-28			ENSG00000154342	ENSG00000154342		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	15983	protein-coding gene	gene with protein product		606359				11414706	Standard	NM_033131		Approved		uc001hrq.2	P56704	OTTHUMG00000037593	ENST00000284523.1:c.354C>T	1.37:g.228238397C>T						WNT3A_ENST00000366753.2_Silent_p.A118A	p.A118A	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN			3	432	+		Prostate(94;0.0405)	118					Q3SY79|Q3SY80|Q969P2	Silent	SNP	ENST00000284523.1	37	c.354C>T	CCDS1564.1																																																																																				0.622	WNT3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091648.1	NM_033131		18	15	0	0	0	1	0	18	15				
NLRP2	55655	broad.mit.edu	37	19	55496573	55496573	+	Missense_Mutation	SNP	T	T	G			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr19:55496573T>G	ENST00000543010.1	+	7	2332	c.2189T>G	c.(2188-2190)cTc>cGc	p.L730R	NLRP2_ENST00000263437.6_Missense_Mutation_p.L727R|NLRP2_ENST00000339757.7_Missense_Mutation_p.L708R|NLRP2_ENST00000448584.2_Missense_Mutation_p.L730R|NLRP2_ENST00000538819.1_Missense_Mutation_p.L706R|NLRP2_ENST00000427260.2_Missense_Mutation_p.L707R|NLRP2_ENST00000391721.4_Missense_Mutation_p.L706R|NLRP2_ENST00000537859.1_Missense_Mutation_p.L708R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	730					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCTGTCATCTCCAGAGAGTG	0.403																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(2188-2190)cTc>cGc		NLR family, pyrin domain containing 2							133.0	119.0	124.0					19																	55496573		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55496573T>G	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2189T>G	19.37:g.55496573T>G	ENSP00000445135:p.Leu730Arg					NLRP2_ENST00000339757.7_Missense_Mutation_p.L708R|NLRP2_ENST00000263437.6_Missense_Mutation_p.L727R|NLRP2_ENST00000448584.2_Missense_Mutation_p.L730R|NLRP2_ENST00000427260.2_Missense_Mutation_p.L707R|NLRP2_ENST00000538819.1_Missense_Mutation_p.L706R|NLRP2_ENST00000537859.1_Missense_Mutation_p.L708R|NLRP2_ENST00000391721.4_Missense_Mutation_p.L706R	p.L730R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	7	2332	+			730					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.2189T>G	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	t	16.06	3.015886	0.54468	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	2.45	2.45	0.29901	.	0.295773	0.18567	N	0.137457	D	0.83261	0.5216	M	0.83953	2.67	0.22342	N	0.999189	D;D;D;D;D	0.63880	0.993;0.989;0.973;0.989;0.993	P;D;P;D;P	0.67382	0.895;0.951;0.895;0.951;0.895	T	0.71513	-0.4570	10	0.87932	D	0	.	6.8914	0.24232	0.0:0.0:0.0:1.0	.	707;708;727;706;730	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	R	730;706;708;730;708;707;706;727	ENSP00000445135:L730R;ENSP00000375601:L706R;ENSP00000344074:L708R;ENSP00000409370:L730R;ENSP00000440601:L708R;ENSP00000402474:L707R;ENSP00000441133:L706R;ENSP00000263437:L727R	ENSP00000263437:L727R	L	+	2	0	NLRP2	60188385	0.368000	0.25031	0.578000	0.28575	0.525000	0.34531	2.256000	0.43231	1.404000	0.46819	0.449000	0.29647	CTC		0.403	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		6	83	0	0	0	1	0	6	83				
OR4P4	81300	broad.mit.edu	37	11	55406191	55406191	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:55406191C>T	ENST00000314612.2	+	1	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGCCTATGACCGCTATGTGGC	0.403																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(358-360)Cgc>Tgc		olfactory receptor, family 4, subfamily P, member 4							94.0	82.0	86.0					11																	55406191		2180	4017	6197	SO:0001583	missense	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406191C>T	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.358C>T	11.37:g.55406191C>T	ENSP00000324831:p.Arg120Cys						p.R120C	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	358	+			120						Missense_Mutation	SNP	ENST00000314612.2	37	c.358C>T	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	9.066	0.995711	0.19043	.	.	ENSG00000181927	ENST00000314612	T	0.77358	-1.09	5.37	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	0.175331	0.27927	N	0.017297	T	0.71871	0.3391	M	0.69523	2.12	0.43637	D	0.996037	B	0.26318	0.146	B	0.24974	0.057	T	0.65121	-0.6245	10	0.72032	D	0.01	-3.8644	6.3502	0.21370	0.0:0.5465:0.2439:0.2096	.	120	Q8NGL7	OR4P4_HUMAN	C	120	ENSP00000324831:R120C	ENSP00000324831:R120C	R	+	1	0	OR4P4	55162767	0.025000	0.19082	0.966000	0.40874	0.062000	0.15995	0.315000	0.19451	0.008000	0.14787	0.637000	0.83480	CGC		0.403	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		21	60	0	0	0	1	0	21	60				
PCDHGA2	56113	broad.mit.edu	37	5	140719242	140719242	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr5:140719242C>T	ENST00000394576.2	+	1	704	c.704C>T	c.(703-705)gCg>gTg	p.A235V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A235V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTGGATGCGAACGACAAT	0.592																																						ENST00000394576.2																			2	Substitution - Missense(2)	p.A235V(2)	endometrium(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(703-705)gCg>gTg									79.0	76.0	77.0					5																	140719242		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719242C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.704C>T	5.37:g.140719242C>T	ENSP00000378077:p.Ala235Val					PCDHGA1_ENST00000517417.1_Intron	p.A235V	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	704	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.704C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	8.887	0.953099	0.18431	.	.	ENSG00000081853	ENST00000394576	T	0.01474	4.85	5.26	-10.4	0.00318	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.928232	0.08768	N	0.896762	T	0.01287	0.0042	N	0.10733	0.035	0.09310	N	0.999994	B;B	0.21452	0.002;0.056	B;B	0.17979	0.02;0.014	T	0.47636	-0.9102	10	0.30078	T	0.28	.	23.0939	0.99979	0.0:0.8191:0.0:0.1809	.	235;235	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	V	235	ENSP00000378077:A235V	ENSP00000378077:A235V	A	+	2	0	PCDHGA2	140699426	0.000000	0.05858	0.001000	0.08648	0.262000	0.26303	-2.508000	0.00960	-1.868000	0.01142	-0.238000	0.12139	GCG		0.592	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		4	81	0	0	0	1	0	4	81				
OGG1	4968	broad.mit.edu	37	3	9798825	9798825	+	Silent	SNP	G	G	A			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr3:9798825G>A	ENST00000344629.7	+	7	1372	c.1029G>A	c.(1027-1029)ccG>ccA	p.P343P	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000339511.5_3'UTR|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302003.7_Missense_Mutation_p.R349Q|OGG1_ENST00000302008.8_Intron			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	343					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CCAAAGGGCCGGAAGGCTAGA	0.602								Base excision repair (BER), DNA glycosylases																														ENST00000302003.7																			0				kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8						c.(1045-1047)cGg>cAg	Base excision repair (BER), DNA glycosylases	8-oxoguanine DNA glycosylase							90.0	97.0	95.0					3																	9798825		2203	4300	6503	SO:0001819	synonymous_variant	4968				depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding	g.chr3:9798825G>A	U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.1029G>A	3.37:g.9798825G>A						OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000344629.7_Silent_p.P343P|OGG1_ENST00000339511.5_3'UTR|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron	p.R349Q	NM_002542.5|NM_016820.3	NP_002533.1|NP_058213.1	O15527	OGG1_HUMAN			7	1389	+	Medulloblastoma(99;0.227)		43					A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	ENST00000344629.7	37	c.1046G>A	CCDS2581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.702|3.702	-0.061381|-0.061381	0.07317|0.07317	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000416333|ENST00000302003;ENST00000339542	.|T	.|0.60171	.|0.21	4.81|4.81	-9.63|-9.63	0.00544|0.00544	.|.	.|.	.|.	.|.	.|.	T|T	0.33990|0.33990	0.0882|0.0882	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	.|B;B;B;B	.|0.09022	.|0.001;0.001;0.002;0.001	.|B;B;B;B	.|0.04013	.|0.001;0.001;0.0;0.0	T|T	0.15263|0.15263	-1.0443|-1.0443	4|8	.|0.38643	.|T	.|0.18	.|.	3.8146|3.8146	0.08811|0.08811	0.107:0.1744:0.4407:0.2779|0.107:0.1744:0.4407:0.2779	.|.	.|136;120;349;349	.|F8WA07;Q9HCR8;O15527-3;E5KPN0	.|.;.;.;.	R|Q	116|349;136	.|ENSP00000305584:R349Q	.|ENSP00000305584:R349Q	G|R	+|+	1|2	0|0	OGG1|OGG1	9773825|9773825	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-2.212000|-2.212000	0.01225|0.01225	-3.330000|-3.330000	0.00186|0.00186	-1.069000|-1.069000	0.02264|0.02264	GGA|CGG		0.602	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214223.2	NM_016821		4	128	0	0	0	1	0	4	128				
HNF4A	3172	broad.mit.edu	37	20	43056985	43056985	+	Silent	SNP	C	C	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr20:43056985C>T	ENST00000316099.4	+	9	1229	c.1140C>T	c.(1138-1140)agC>agT	p.S380S	HNF4A_ENST00000316673.4_Silent_p.S358S|HNF4A_ENST00000415691.2_Silent_p.S380S|HNF4A_ENST00000457232.1_Silent_p.S358S	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	380					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTCCCCCAGCGATGCACCCC	0.592																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(1138-1140)agC>agT		hepatocyte nuclear factor 4, alpha							104.0	81.0	88.0					20																	43056985		2203	4300	6503	SO:0001819	synonymous_variant	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43056985C>T	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1140C>T	20.37:g.43056985C>T						HNF4A_ENST00000457232.1_Silent_p.S358S|HNF4A_ENST00000415691.1_Silent_p.S380S	p.S380S	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		9	1229	+		Myeloproliferative disorder(115;0.0122)	380					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	c.1140C>T	CCDS13330.1																																																																																				0.592	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			21	71	0	0	0	1	0	21	71				
LAMC3	10319	broad.mit.edu	37	9	133928258	133928258	+	Silent	SNP	C	C	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr9:133928258C>T	ENST00000361069.4	+	11	1978	c.1845C>T	c.(1843-1845)gaC>gaT	p.D615D	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	615	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCTCCGAGGACGTGGCCCCTC	0.697											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361069.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1843-1845)gaC>gaT		laminin, gamma 3							48.0	44.0	45.0					9																	133928258		2203	4300	6503	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133928258C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1845C>T	9.37:g.133928258C>T			OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606	LAMC3_ENST00000480883.1_Intron	p.D615D	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	11	1978	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	615			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.1845C>T	CCDS6938.1																																																																																				0.697	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		7	63	0	0	0	1	0	7	63				
OR2T1	26696	broad.mit.edu	37	1	248569715	248569715	+	Silent	SNP	G	G	A	rs369495545		TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:248569715G>A	ENST00000366474.1	+	1	420	c.420G>A	c.(418-420)agG>agA	p.R140R		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGATCAAAGGACCATTTCCT	0.478																																						ENST00000366474.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39						c.(418-420)agG>agA		olfactory receptor, family 2, subfamily T, member 1		G		1,4405	2.1+/-5.4	0,1,2202	188.0	180.0	183.0		420	-8.0	0.0	1		183	0,8600		0,0,4300	no	coding-synonymous	OR2T1	NM_030904.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		140/370	248569715	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569715G>A	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.420G>A	1.37:g.248569715G>A							p.R140R	NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	420	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		140					Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.420G>A	CCDS31115.1																																																																																				0.478	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			15	144	0	0	0	1	0	15	144				
SIRT5	23408	broad.mit.edu	37	6	13592062	13592062	+	Silent	SNP	C	C	A			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr6:13592062C>A	ENST00000606117.1	+	5	707	c.411C>A	c.(409-411)gtC>gtA	p.V137V	SIRT5_ENST00000359782.3_Silent_p.V137V|SIRT5_ENST00000379262.4_Silent_p.V137V|SIRT5_ENST00000397350.2_Silent_p.V29V	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GAGTCGTGGTCATCACCCAGA	0.652																																						ENST00000606117.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(409-411)gtC>gtA		sirtuin 5	Suramin(DB04786)						51.0	50.0	50.0					6																	13592062		2203	4300	6503	SO:0001819	synonymous_variant	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13592062C>A	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.411C>A	6.37:g.13592062C>A						SIRT5_ENST00000359782.3_Silent_p.V137V|SIRT5_ENST00000379262.4_Silent_p.V137V|SIRT5_ENST00000397350.2_Silent_p.V29V	p.V137V	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		5	707	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	137			Deacetylase sirtuin-type.			Silent	SNP	ENST00000606117.1	37	c.411C>A	CCDS4526.1																																																																																				0.652	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			13	46	1	0	1.33834e-09	1	1.49276e-09	13	46				
LIG4	3981	broad.mit.edu	37	13	108862482	108862482	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr13:108862482G>A	ENST00000356922.4	-	2	1407	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	LIG4_ENST00000442234.1_Missense_Mutation_p.H379Y|LIG4_ENST00000405925.1_Missense_Mutation_p.H379Y	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	379					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGAGTCTCATGCCCTAGCTTT	0.328								Non-homologous end-joining																														ENST00000356922.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1135-1137)Cat>Tat	Non-homologous end-joining	ligase IV, DNA, ATP-dependent							78.0	82.0	81.0					13																	108862482		2203	4298	6501	SO:0001583	missense	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108862482G>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1135C>T	13.37:g.108862482G>A	ENSP00000349393:p.His379Tyr					LIG4_ENST00000442234.1_Missense_Mutation_p.H379Y|LIG4_ENST00000405925.1_Missense_Mutation_p.H379Y	p.H379Y	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN			2	1407	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		379					Q8IY66|Q8TEU5	Missense_Mutation	SNP	ENST00000356922.4	37	c.1135C>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	G	4.036	0.004186	0.07866	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	D;D;D	0.84370	-1.84;-1.84;-1.84	5.49	5.49	0.81192	DNA ligase, ATP-dependent, central (2);	0.343652	0.33534	N	0.004808	D	0.86343	0.5910	M	0.74467	2.265	0.31384	N	0.678688	B	0.19935	0.04	B	0.22386	0.039	D	0.85176	0.1001	10	0.72032	D	0.01	.	18.3666	0.90392	0.0:0.0:1.0:0.0	.	379	P49917	DNLI4_HUMAN	Y	379	ENSP00000385955:H379Y;ENSP00000402030:H379Y;ENSP00000349393:H379Y	ENSP00000349393:H379Y	H	-	1	0	LIG4	107660483	1.000000	0.71417	0.972000	0.41901	0.906000	0.53458	5.906000	0.69900	2.572000	0.86782	0.643000	0.83706	CAT		0.328	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		7	55	0	0	0	1	0	7	55				
PAX1	5075	broad.mit.edu	37	20	21689987	21689987	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr20:21689987C>T	ENST00000398485.2	+	4	1241	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.A372V	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	396					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TGGCCGCCTGCGCAAGGTCCT	0.736																																						ENST00000398485.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1186-1188)gCg>gTg		paired box 1							11.0	15.0	13.0					20																	21689987		1983	3804	5787	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689987C>T		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1187C>T	20.37:g.21689987C>T	ENSP00000381499:p.Ala396Val					PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.A372V	p.A396V	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN			4	1241	+			396					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.1187C>T	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856350	0.71834	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98381	-4.46;-4.9	5.66	5.66	0.87406	.	3.629300	0.01720	N	0.028226	D	0.97464	0.9170	N	0.24115	0.695	0.39898	D	0.973868	D;D;D	0.67145	0.991;0.985;0.996	P;B;P	0.47786	0.452;0.265;0.557	D	0.88499	0.3081	10	0.72032	D	0.01	.	19.347	0.94367	0.0:1.0:0.0:0.0	.	372;302;396	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	V	396;372	ENSP00000381499:A396V;ENSP00000410355:A372V	ENSP00000381499:A396V	A	+	2	0	PAX1	21637987	0.917000	0.31117	0.166000	0.22797	0.321000	0.28281	4.068000	0.57534	2.667000	0.90743	0.462000	0.41574	GCG		0.736	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3			5	17	0	0	0	1	0	5	17				
RPH3A	22895	broad.mit.edu	37	12	113321171	113321171	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr12:113321171G>A	ENST00000389385.4	+	16	1897	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	RPH3A_ENST00000420983.2_Missense_Mutation_p.G467D|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.G467D|RPH3A_ENST00000415485.3_Missense_Mutation_p.G467D|RPH3A_ENST00000551052.1_Missense_Mutation_p.G463D|RPH3A_ENST00000548866.1_Missense_Mutation_p.G418D|RPH3A_ENST00000447659.2_Missense_Mutation_p.G418D	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	467	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GTGTATCACGGCATCACCGAT	0.562																																						ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(1399-1401)gGc>gAc		rabphilin 3A homolog (mouse)							74.0	62.0	66.0					12																	113321171		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113321171G>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1400G>A	12.37:g.113321171G>A	ENSP00000374036:p.Gly467Asp					RPH3A_ENST00000543106.2_Missense_Mutation_p.G467D|RPH3A_ENST00000548866.1_Missense_Mutation_p.G418D|RPH3A_ENST00000447659.2_Missense_Mutation_p.G418D|RPH3A_ENST00000415485.3_Missense_Mutation_p.G467D|RPH3A_ENST00000551052.1_Missense_Mutation_p.G463D|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.G467D	p.G467D	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	16	1897	+			467			C2 1.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.1400G>A	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	31	5.073351	0.94000	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.43	5.43	0.79202	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000009	T	0.38558	0.1045	L	0.50993	1.605	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.06110	-1.0845	10	0.62326	D	0.03	.	18.0287	0.89276	0.0:0.0:1.0:0.0	.	418;467;467;463	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	D	467;467;418;463;467;418;467;119	ENSP00000440384:G467D;ENSP00000374036:G467D;ENSP00000413254:G418D;ENSP00000448297:G463D;ENSP00000405357:G467D;ENSP00000450347:G418D;ENSP00000408889:G467D	ENSP00000374036:G467D	G	+	2	0	RPH3A	111805554	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	9.466000	0.97665	2.546000	0.85860	0.551000	0.68910	GGC		0.562	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		3	26	0	0	0	1	0	3	26				
FOXN2	3344	broad.mit.edu	37	2	48573435	48573435	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr2:48573435T>C	ENST00000340553.3	+	3	343	c.82T>C	c.(82-84)Tac>Cac	p.Y28H		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	28					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			AAGCCAGATTTACAAAATGGG	0.463																																						ENST00000340553.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(82-84)Tac>Cac		forkhead box N2							106.0	110.0	109.0					2																	48573435		2203	4300	6503	SO:0001583	missense	3344				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:48573435T>C		CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.82T>C	2.37:g.48573435T>C	ENSP00000343633:p.Tyr28His						p.Y28H	NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)		3	343	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	28					Q15769|Q6P4Q2	Missense_Mutation	SNP	ENST00000340553.3	37	c.82T>C	CCDS1838.1	.	.	.	.	.	.	.	.	.	.	T	12.61	1.988961	0.35131	.	.	ENSG00000170802	ENST00000413569;ENST00000340553	D;D	0.95001	-3.58;-3.46	5.28	5.28	0.74379	.	0.232560	0.46442	D	0.000295	D	0.88089	0.6343	L	0.28400	0.85	0.31040	N	0.716462	B	0.06786	0.001	B	0.08055	0.003	T	0.81118	-0.1078	10	0.38643	T	0.18	.	4.455	0.11639	0.0:0.1208:0.1933:0.6859	.	28	P32314	FOXN2_HUMAN	H	28	ENSP00000388486:Y28H;ENSP00000343633:Y28H	ENSP00000343633:Y28H	Y	+	1	0	FOXN2	48426939	0.988000	0.35896	1.000000	0.80357	0.998000	0.95712	1.369000	0.34227	2.212000	0.71576	0.482000	0.46254	TAC		0.463	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251240.3	NM_002158		38	86	0	0	0	1	0	38	86				
KAT6A	7994	broad.mit.edu	37	8	41836190	41836190	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr8:41836190G>A	ENST00000396930.3	-	7	1556	c.1013C>T	c.(1012-1014)cCa>cTa	p.P338L	KAT6A_ENST00000265713.2_Missense_Mutation_p.P338L|KAT6A_ENST00000406337.1_Missense_Mutation_p.P338L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P338L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	338	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P338Q(1)									CCTGTTTTTTGGACGTCCTAT	0.403																																						ENST00000396930.3																			1	Substitution - Missense(1)	p.P338Q(1)	lung(1)								c.(1012-1014)cCa>cTa		K(lysine) acetyltransferase 6A							336.0	332.0	333.0					8																	41836190		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41836190G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1013C>T	8.37:g.41836190G>A	ENSP00000380136:p.Pro338Leu					KAT6A_ENST00000406337.1_Missense_Mutation_p.P338L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P338L|KAT6A_ENST00000265713.2_Missense_Mutation_p.P338L	p.P338L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			7	1556	-			338			Interaction with RUNX1-1.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.1013C>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208151	0.58343	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84873	0.1;0.1;0.1;-1.91	5.47	5.47	0.80525	.	0.154327	0.45606	D	0.000345	D	0.90834	0.7121	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	0.969;1.0	P;D	0.85130	0.621;0.997	D	0.91313	0.5076	10	0.72032	D	0.01	-5.383	19.4191	0.94713	0.0:0.0:1.0:0.0	.	338;338	A5PLL3;Q92794	.;KAT6A_HUMAN	L	338	ENSP00000265713:P338L;ENSP00000385888:P338L;ENSP00000380136:P338L;ENSP00000430606:P338L	ENSP00000265713:P338L	P	-	2	0	KAT6A	41955347	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.471000	0.97696	2.572000	0.86782	0.644000	0.83932	CCA		0.403	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		61	163	0	0	0	1	0	61	163				
OR10R2	343406	broad.mit.edu	37	1	158449735	158449735	+	Missense_Mutation	SNP	C	C	A			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:158449735C>A	ENST00000368152.1	+	1	68	c.68C>A	c.(67-69)gCa>gAa	p.A23E	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CAGATCTTGGCAGAAAACCTC	0.423																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(67-69)gCa>gAa		olfactory receptor, family 10, subfamily R, member 2							181.0	177.0	178.0					1																	158449735		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449735C>A	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.68C>A	1.37:g.158449735C>A	ENSP00000357134:p.Ala23Glu					RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	p.A23E	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	68	+	all_hematologic(112;0.0378)		23					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.68C>A	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	c	0.071	-1.201824	0.01581	.	.	ENSG00000198965	ENST00000368152	T	0.00530	6.77	4.09	2.16	0.27623	.	.	.	.	.	T	0.00039	0.0001	N	0.02842	-0.48	0.23210	N	0.998118	B	0.11235	0.004	B	0.06405	0.002	T	0.19943	-1.0290	9	0.02654	T	1	.	7.3922	0.26915	0.1815:0.4657:0.3528:0.0	.	23	Q8NGX6	O10R2_HUMAN	E	23	ENSP00000357134:A23E	ENSP00000357134:A23E	A	+	2	0	OR10R2	156716359	0.000000	0.05858	0.730000	0.30809	0.457000	0.32468	-0.313000	0.08103	0.337000	0.23665	0.591000	0.81541	GCA		0.423	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		12	112	1	0	7.03913e-09	1	7.7032e-09	12	112				
TRIM67	440730	broad.mit.edu	37	1	231299652	231299652	+	Missense_Mutation	SNP	A	A	C			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:231299652A>C	ENST00000366653.5	+	1	937	c.937A>C	c.(937-939)Atg>Ctg	p.M313L	TRIM67_ENST00000444294.3_Missense_Mutation_p.M313L|TRIM67_ENST00000449018.3_Missense_Mutation_p.M251L|TRIM67_ENST00000366652.2_Missense_Mutation_p.M313L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	313					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GAACTACAGCATGTACTGCGT	0.672																																						ENST00000444294.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(937-939)Atg>Ctg		tripartite motif containing 67							19.0	23.0	22.0					1																	231299652		2058	4195	6253	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231299652A>C	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.937A>C	1.37:g.231299652A>C	ENSP00000355613:p.Met313Leu					TRIM67_ENST00000366653.5_Missense_Mutation_p.M313L|TRIM67_ENST00000366652.2_Missense_Mutation_p.M313L|TRIM67_ENST00000449018.3_Missense_Mutation_p.M251L	p.M313L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN			1	1795	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	313					Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.937A>C	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.341813	0.41498	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	4.58	4.58	0.56647	Zinc finger, B-box (3);	0.085670	0.85682	N	0.000000	T	0.27832	0.0685	N	0.21282	0.65	0.45477	D	0.998446	B	0.32939	0.391	B	0.39805	0.31	T	0.08513	-1.0718	10	0.27785	T	0.31	.	10.3016	0.43656	0.919:0.0:0.081:0.0	.	313	Q6ZTA4	TRI67_HUMAN	L	313;313;251;313	ENSP00000412124:M313L;ENSP00000355612:M313L;ENSP00000400163:M251L;ENSP00000355613:M313L	ENSP00000355612:M313L	M	+	1	0	TRIM67	229366275	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.323000	0.65858	1.915000	0.55452	0.459000	0.35465	ATG		0.672	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342		3	6	0	0	0	1	0	3	6				
RASSF4	83937	broad.mit.edu	37	10	45467247	45467247	+	Missense_Mutation	SNP	C	C	T	rs184086507	byFrequency	TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr10:45467247C>T	ENST00000340258.5	+	3	202	c.89C>T	c.(88-90)aCc>aTc	p.T30I	RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000374417.2_Missense_Mutation_p.T30I|C10orf10_ENST00000496638.1_Intron	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGCTGAAAACCTACAACTGC	0.562													C|||	14	0.00279553	0.0	0.0	5008	,	,		21790	0.0139		0.0	False		,,,				2504	0.0					ENST00000340258.4																			0				NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(88-90)aCc>aTc		Ras association (RalGDS/AF-6) domain family member 4							216.0	169.0	185.0					10																	45467247		2203	4300	6503	SO:0001583	missense	83937				cell cycle|signal transduction		protein binding	g.chr10:45467247C>T	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.89C>T	10.37:g.45467247C>T	ENSP00000339692:p.Thr30Ile					C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Missense_Mutation_p.T30I|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000472561.1_3'UTR	p.T30I	NM_032023.3	NP_114412.2	Q9H2L5	RASF4_HUMAN			3	202	+			30					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	37	c.89C>T	CCDS7208.1	7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	C	22.7	4.320318	0.81469	.	.	ENSG00000107551	ENST00000374417;ENST00000374414;ENST00000340258;ENST00000427758;ENST00000428466;ENST00000374411	T;T;T;T	0.37058	1.22;2.26;1.22;1.22	5.34	5.34	0.76211	.	0.336172	0.34362	N	0.004040	T	0.55401	0.1918	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.65500	-0.6153	10	0.87932	D	0	-20.1786	14.9095	0.70746	0.0:1.0:0.0:0.0	.	121;30	Q59FL4;Q9H2L5	.;RASF4_HUMAN	I	30;30;30;30;23;121	ENSP00000363538:T30I;ENSP00000339692:T30I;ENSP00000409767:T30I;ENSP00000413468:T23I	ENSP00000339692:T30I	T	+	2	0	RASSF4	44787253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.850000	0.55918	2.667000	0.90743	0.655000	0.94253	ACC		0.562	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		8	51	0	0	0	1	0	8	51				
UBIAD1	29914	broad.mit.edu	37	1	11345718	11345718	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:11345718G>A	ENST00000376810.5	+	2	873	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	183					menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659)	p.V183M(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ATTCAAGTACGTGGCTCTGGG	0.552																																						ENST00000376810.5																			1	Substitution - Missense(1)	p.V183M(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12						c.(547-549)Gtg>Atg		UbiA prenyltransferase domain containing 1							101.0	85.0	90.0					1																	11345718		2203	4300	6503	SO:0001583	missense	29914				menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	g.chr1:11345718G>A		CCDS129.1	1p36.22	2012-05-02			ENSG00000120942	ENSG00000120942			30791	protein-coding gene	gene with protein product	"""transitional epithelia response protein"""	611632	"""Schnyder crystalline corneal dystrophy"""	SCCD		20953171, 12497587, 11314041, 17668063, 17962451, 8894705	Standard	NM_013319		Approved	TERE1	uc001asg.3	Q9Y5Z9	OTTHUMG00000002075	ENST00000376810.5:c.547G>A	1.37:g.11345718G>A	ENSP00000366006:p.Val183Met					UBIAD1_ENST00000376804.2_Intron	p.V183M	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)	2	873	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	183					B3KQG3|Q53GX3|Q5THD4	Missense_Mutation	SNP	ENST00000376810.5	37	c.547G>A	CCDS129.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681402	0.47991	.	.	ENSG00000120942	ENST00000376810	D	0.92858	-3.12	5.44	4.52	0.55395	.	0.120448	0.56097	D	0.000034	D	0.86653	0.5984	L	0.35414	1.06	0.80722	D	1	B	0.27117	0.168	B	0.23574	0.047	T	0.82400	-0.0476	10	0.27082	T	0.32	0.0579	13.7157	0.62695	0.0:0.1649:0.8351:0.0	.	183	Q9Y5Z9	UBIA1_HUMAN	M	183	ENSP00000366006:V183M	ENSP00000366006:V183M	V	+	1	0	UBIAD1	11268305	1.000000	0.71417	0.989000	0.46669	0.959000	0.62525	7.550000	0.82173	1.260000	0.44134	0.491000	0.48974	GTG		0.552	UBIAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005773.1	NM_013319		4	54	0	0	0	1	0	4	54				
YEATS2	55689	broad.mit.edu	37	3	183521930	183521930	+	Silent	SNP	C	C	T	rs192649831	byFrequency	TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr3:183521930C>T	ENST00000305135.5	+	27	3933	c.3738C>T	c.(3736-3738)gaC>gaT	p.D1246D	AC131160.1_ENST00000401347.1_RNA|YEATS2-AS1_ENST00000425008.3_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1246					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAGGAATGACGGGGACTCCA	0.617													C|||	19	0.00379393	0.0144	0.0	5008	,	,		15969	0.0		0.0	False		,,,				2504	0.0					ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(3736-3738)gaC>gaT		YEATS domain containing 2		C		30,4164		1,28,2068	95.0	96.0	96.0		3738	-11.5	0.0	3		96	0,8448		0,0,4224	no	coding-synonymous	YEATS2	NM_018023.4		1,28,6292	TT,TC,CC		0.0,0.7153,0.2373		1246/1423	183521930	30,12612	2097	4224	6321	SO:0001819	synonymous_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183521930C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3738C>T	3.37:g.183521930C>T							p.D1246D	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		27	3933	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1246					A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	c.3738C>T	CCDS43175.1																																																																																				0.617	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		4	156	0	0	0	1	0	4	156				
FCRL2	79368	broad.mit.edu	37	1	157737056	157737056	+	Missense_Mutation	SNP	G	G	A			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:157737056G>A	ENST00000361516.3	-	6	1175	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	FCRL2_ENST00000469986.1_Missense_Mutation_p.A123V|FCRL2_ENST00000392274.3_Missense_Mutation_p.A376V|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	376	Ig-like C2-type 4.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTGCACTGGGCCCCCAGGCC	0.572																																						ENST00000361516.3																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(1126-1128)gCc>gTc		Fc receptor-like 2							59.0	63.0	62.0					1																	157737056		2203	4300	6503	SO:0001583	missense	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157737056G>A	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.1127C>T	1.37:g.157737056G>A	ENSP00000355157:p.Ala376Val					FCRL2_ENST00000469986.1_Missense_Mutation_p.A123V|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.A376V	p.A376V	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	1175	-	all_hematologic(112;0.0378)		376			Ig-like C2-type 4.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Missense_Mutation	SNP	ENST00000361516.3	37	c.1127C>T	CCDS1168.1	.	.	.	.	.	.	.	.	.	.	G	4.831	0.154485	0.09236	.	.	ENSG00000132704	ENST00000361516;ENST00000392274;ENST00000469986	T;T;T	0.03181	4.02;4.02;4.02	3.99	-1.81	0.07882	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.976727	0.08341	N	0.960816	T	0.00998	0.0033	L	0.27975	0.815	0.09310	N	1	B;B;P	0.45126	0.415;0.246;0.851	B;B;P	0.46718	0.083;0.099;0.525	T	0.37314	-0.9711	10	0.15499	T	0.54	.	2.6462	0.04985	0.3226:0.0:0.3256:0.3518	.	376;376;123	B4DVJ9;Q96LA5;Q96LA5-2	.;FCRL2_HUMAN;.	V	376;376;123	ENSP00000355157:A376V;ENSP00000376100:A376V;ENSP00000417393:A123V	ENSP00000355157:A376V	A	-	2	0	FCRL2	156003680	0.001000	0.12720	0.001000	0.08648	0.023000	0.10783	0.403000	0.20982	-0.134000	0.11516	-0.229000	0.12294	GCC		0.572	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764		21	60	0	0	0	1	0	21	60				
SENP6	26054	broad.mit.edu	37	6	76373050	76373050	+	Silent	SNP	A	A	G			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr6:76373050A>G	ENST00000447266.2	+	9	1288	c.810A>G	c.(808-810)ttA>ttG	p.L270L	SENP6_ENST00000370014.3_Silent_p.L270L|SENP6_ENST00000327284.8_Silent_p.L263L|SENP6_ENST00000370010.2_Silent_p.L263L	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	270					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ACACAGGATTAACAACCAAGA	0.343																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(808-810)ttA>ttG		SUMO1/sentrin specific peptidase 6							119.0	114.0	115.0					6																	76373050		1850	4100	5950	SO:0001819	synonymous_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76373050A>G		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.810A>G	6.37:g.76373050A>G						SENP6_ENST00000370010.2_Silent_p.L263L|SENP6_ENST00000327284.8_Silent_p.L263L|SENP6_ENST00000447266.2_Silent_p.L270L	p.L270L	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			9	1429	+		all_hematologic(105;0.189)	270					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	c.810A>G	CCDS47454.1																																																																																				0.343	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		15	66	0	0	0	1	0	15	66				
RP11-156P1.3	0	broad.mit.edu	37	17	45128812	45128812	+	RNA	SNP	C	C	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr17:45128812C>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AGTCCTGTTTCTGTGTGGATT	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128812C>T																													17.37:g.45128812C>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	25	0	0	0	1	0	4	25				
ARAP1	116985	broad.mit.edu	37	11	72418283	72418283	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:72418283C>T	ENST00000393609.3	-	12	1862	c.1660G>A	c.(1660-1662)Ggg>Agg	p.G554R	ARAP1_ENST00000393605.3_Missense_Mutation_p.G314R|ARAP1_ENST00000359373.5_Missense_Mutation_p.G554R|ARAP1_ENST00000455638.2_Missense_Mutation_p.G554R|ARAP1_ENST00000426523.1_Missense_Mutation_p.G309R|ARAP1_ENST00000334211.8_Missense_Mutation_p.G309R|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000429686.1_Missense_Mutation_p.G309R	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	554	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGAGGAGCCCCGCAGTCAGCA	0.642																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(1660-1662)Ggg>Agg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							49.0	40.0	43.0					11																	72418283		2199	4293	6492	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72418283C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1660G>A	11.37:g.72418283C>T	ENSP00000377233:p.Gly554Arg					ARAP1_ENST00000334211.8_Missense_Mutation_p.G309R|ARAP1_ENST00000393605.3_Missense_Mutation_p.G314R|ARAP1_ENST00000455638.2_Missense_Mutation_p.G554R|ARAP1_ENST00000393609.3_Missense_Mutation_p.G554R|ARAP1_ENST00000429686.1_Missense_Mutation_p.G309R|ARAP1_ENST00000426523.1_Missense_Mutation_p.G309R	p.G554R			Q96P48	ARAP1_HUMAN			12	2511	-			554			Arf-GAP.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.1660G>A	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	7.505	0.653460	0.14580	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.58	3.67	0.42095	.	0.213470	0.38272	N	0.001744	T	0.43678	0.1258	M	0.62088	1.915	0.30866	N	0.732985	B;P;P;B;B	0.51791	0.009;0.465;0.948;0.03;0.024	B;B;P;B;B	0.46275	0.025;0.109;0.51;0.025;0.024	T	0.44559	-0.9320	10	0.13108	T	0.6	.	8.0518	0.30583	0.0:0.8144:0.0:0.1856	.	309;309;554;554;314	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	R	554;554;314;309;554;309;309;343	ENSP00000352332:G554R;ENSP00000390461:G554R;ENSP00000377230:G314R;ENSP00000335506:G309R;ENSP00000377233:G554R;ENSP00000392264:G309R;ENSP00000403127:G309R	ENSP00000335506:G309R	G	-	1	0	ARAP1	72095931	0.001000	0.12720	0.992000	0.48379	0.855000	0.48748	1.272000	0.33109	1.170000	0.42753	-0.142000	0.14014	GGG		0.642	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		4	6	0	0	0	1	0	4	6				
TNIP1	10318	broad.mit.edu	37	5	150415234	150415234	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr5:150415234C>T	ENST00000389378.2	-	14	2018	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000524280.1_Missense_Mutation_p.R477H|TNIP1_ENST00000522226.1_Missense_Mutation_p.R477H|TNIP1_ENST00000315050.7_Missense_Mutation_p.R477H|TNIP1_ENST00000520931.1_Missense_Mutation_p.R424H|TNIP1_ENST00000523338.1_Missense_Mutation_p.R477H|TNIP1_ENST00000521591.1_Missense_Mutation_p.R477H|TNIP1_ENST00000523200.1_Missense_Mutation_p.R477H|TNIP1_ENST00000518977.1_Missense_Mutation_p.R477H	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	477	Required for inhibitory activity of TNF- induced NF-kappa-B activation. {ECO:0000250}.|Ubiquitin-binding domain (UBD).				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGATCACTGCGCTCCCTCTG	0.577																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(1429-1431)cGc>cAc		TNFAIP3 interacting protein 1							132.0	110.0	117.0					5																	150415234		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150415234C>T	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.1430G>A	5.37:g.150415234C>T	ENSP00000374029:p.Arg477His					TNIP1_ENST00000315050.7_Missense_Mutation_p.R477H|TNIP1_ENST00000523338.1_Missense_Mutation_p.R477H|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000518977.1_Missense_Mutation_p.R477H|TNIP1_ENST00000521591.1_Missense_Mutation_p.R477H|TNIP1_ENST00000524280.1_Missense_Mutation_p.R477H|TNIP1_ENST00000520931.1_Missense_Mutation_p.R424H|TNIP1_ENST00000523200.1_Missense_Mutation_p.R477H|TNIP1_ENST00000522226.1_Missense_Mutation_p.R477H	p.R477H	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		14	2018	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	477					A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.1430G>A	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555889	0.86231	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000517504;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840	D;D;D;D;D;D;D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57;-4.57	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.98770	0.9586	M	0.83953	2.67	0.58432	D	0.999994	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.998;0.999;0.999;1.0;1.0	D	0.99804	1.1037	10	0.72032	D	0.01	-17.6481	18.4383	0.90654	0.0:1.0:0.0:0.0	.	477;431;431;477;477;477;477	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	H	424;477;90;477;477;434;434;439;477;477;477;477;477;434	ENSP00000429891:R424H;ENSP00000374029:R477H;ENSP00000430739:R90H;ENSP00000317891:R477H;ENSP00000428243:R477H;ENSP00000428187:R477H;ENSP00000430760:R477H;ENSP00000430971:R477H;ENSP00000429912:R477H;ENSP00000431105:R477H	ENSP00000317891:R477H	R	-	2	0	TNIP1	150395427	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	7.120000	0.77153	2.579000	0.87056	0.561000	0.74099	CGC		0.577	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		4	84	0	0	0	1	0	4	84				
KPNA6	23633	broad.mit.edu	37	1	32622470	32622470	+	Missense_Mutation	SNP	A	A	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:32622470A>T	ENST00000373625.3	+	3	248	c.155A>T	c.(154-156)aAt>aTt	p.N52I	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.N57I|KPNA6_ENST00000537234.1_Missense_Mutation_p.N49I	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	52	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AAACGGAGAAATGTGGAGCTG	0.413																																						ENST00000373625.3																			0				large_intestine(2)	2						c.(154-156)aAt>aTt		karyopherin alpha 6 (importin alpha 7)							146.0	142.0	143.0					1																	32622470		2203	4300	6503	SO:0001583	missense	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32622470A>T	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.155A>T	1.37:g.32622470A>T	ENSP00000362728:p.Asn52Ile					KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.N57I|KPNA6_ENST00000537234.1_Missense_Mutation_p.N49I	p.N52I	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN			3	248	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	52			IBB.		B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	c.155A>T	CCDS352.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.759539	0.89932	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.51817	0.69;0.69;0.69;1.78	5.39	5.39	0.77823	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.041393	0.85682	D	0.000000	T	0.77025	0.4070	H	0.94183	3.505	0.80722	D	1	D;P	0.76494	0.999;0.943	D;P	0.72625	0.978;0.832	D	0.84281	0.0494	10	0.87932	D	0	-13.2751	15.7214	0.77713	1.0:0.0:0.0:0.0	.	57;52	F5GYL8;O60684	.;IMA7_HUMAN	I	52;26;49;57;3	ENSP00000362728:N52I;ENSP00000444930:N49I;ENSP00000440609:N57I;ENSP00000415677:N3I	ENSP00000362719:N26I	N	+	2	0	KPNA6	32395057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.232000	0.95325	2.188000	0.69820	0.533000	0.62120	AAT		0.413	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		12	68	0	0	0	1	0	12	68				
DEFB110	245913	broad.mit.edu	37	6	49986788	49986788	+	Silent	SNP	T	T	G			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr6:49986788T>G	ENST00000371148.2	-	2	151	c.106A>C	c.(106-108)Aga>Cga	p.R36R	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	36					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TTACCTATTCTGCACTCTCTC	0.393																																						ENST00000371148.2																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(106-108)Aga>Cga		defensin, beta 110 locus							176.0	158.0	164.0					6																	49986788		2203	4300	6503	SO:0001819	synonymous_variant	245913				defense response to bacterium	extracellular region		g.chr6:49986788T>G	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.106A>C	6.37:g.49986788T>G						DEFB110_ENST00000393660.2_Intron	p.R36R	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN			2	151	-	Lung NSC(77;0.042)		36					Q30KR0	Silent	SNP	ENST00000371148.2	37	c.106A>C	CCDS34475.1																																																																																				0.393	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728		18	47	0	0	0	1	0	18	47				
DSN1	79980	broad.mit.edu	37	20	35383221	35383221	+	Silent	SNP	C	C	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr20:35383221C>T	ENST00000426836.1	-	10	1278	c.906G>A	c.(904-906)ctG>ctA	p.L302L	DSN1_ENST00000448110.2_Silent_p.L286L|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373745.3_Silent_p.L302L|DSN1_ENST00000373750.4_Silent_p.L302L|DSN1_ENST00000373734.4_Silent_p.L195L|DSN1_ENST00000373740.3_Silent_p.L230L	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	302					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TAAAGGCCTGCAGCTGTTTCA	0.473																																						ENST00000426836.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(904-906)ctG>ctA		DSN1, MIS12 kinetochore complex component							99.0	83.0	88.0					20																	35383221		2203	4300	6503	SO:0001819	synonymous_variant	79980				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr20:35383221C>T	AK023408	CCDS13286.1, CCDS46596.1, CCDS46597.1	20q11.23	2013-07-03	2013-07-03	2006-11-07	ENSG00000149636	ENSG00000149636			16165	protein-coding gene	gene with protein product	"""kinetochore null 3 homolog (C. elegans)"""	609175	"""chromosome 20 open reading frame 172"", ""DSN1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C20orf172		16585270, 20819937	Standard	NM_001145315		Approved	dJ469A13.2, MIS13, KNL3, hKNL-3	uc002xfz.3	Q9H410	OTTHUMG00000032396	ENST00000426836.1:c.906G>A	20.37:g.35383221C>T						DSN1_ENST00000448110.1_Silent_p.L286L|DSN1_ENST00000373734.4_Silent_p.L195L|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373740.3_Silent_p.L230L|DSN1_ENST00000373745.3_Silent_p.L302L|DSN1_ENST00000373750.4_Silent_p.L302L	p.L302L	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN			10	1278	-		Myeloproliferative disorder(115;0.00874)	302					B4DWT2|E1P5U9|Q5JW55|Q5JW56|Q9H8P4	Silent	SNP	ENST00000426836.1	37	c.906G>A	CCDS13286.1																																																																																				0.473	DSN1-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079043.2	NM_024918		12	49	0	0	0	1	0	12	49				
EOMES	8320	broad.mit.edu	37	3	27761814	27761814	+	Missense_Mutation	SNP	C	C	A			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr3:27761814C>A	ENST00000295743.4	-	2	1087	c.884G>T	c.(883-885)cGc>cTc	p.R295L	EOMES_ENST00000449599.1_Missense_Mutation_p.R295L|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000537516.1_5'UTR			O95936	EOMES_HUMAN	eomesodermin	295					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGGAAACATGCGCCTGTGCAA	0.532																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(883-885)cGc>cTc		eomesodermin							92.0	97.0	95.0					3																	27761814		2203	4300	6503	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27761814C>A	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.884G>T	3.37:g.27761814C>A	ENSP00000295743:p.Arg295Leu					EOMES_ENST00000537516.1_5'UTR|EOMES_ENST00000449599.1_Missense_Mutation_p.R295L|EOMES_ENST00000461503.1_5'UTR	p.R295L			O95936	EOMES_HUMAN			2	1087	-			295					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.884G>T	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	33	5.217551	0.95104	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000535713	D;D	0.91124	-2.79;-2.79	4.74	4.74	0.60224	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96068	0.8719	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.962;0.983	D	0.96857	0.9629	10	0.87932	D	0	.	17.9174	0.88955	0.0:1.0:0.0:0.0	.	295;295;295	F5H3K1;G3XAI5;O95936	.;.;EOMES_HUMAN	L	295;295;160	ENSP00000295743:R295L;ENSP00000388620:R295L	ENSP00000295743:R295L	R	-	2	0	EOMES	27736818	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.590000	0.82653	2.449000	0.82847	0.563000	0.77884	CGC		0.532	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		12	124	1	0	0.000151284	1	0.000162491	12	124				
PLPPR2	64748	broad.mit.edu	37	19	11470257	11470257	+	Missense_Mutation	SNP	C	C	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr19:11470257C>T	ENST00000251473.5	+	4	492	c.116C>T	c.(115-117)aCg>aTg	p.T39M	DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Intron	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CTGGAGTTCACGGACACCTTC	0.622																																						ENST00000251473.5																			0											c.(115-117)aCg>aTg									125.0	93.0	104.0					19																	11470257		2203	4300	6503	SO:0001583	missense	0							g.chr19:11470257C>T																												ENST00000251473.5:c.116C>T	19.37:g.11470257C>T	ENSP00000251473:p.Thr39Met					DKFZP761J1410_ENST00000586431.1_3'UTR|DKFZP761J1410_ENST00000591608.1_Intron	p.T39M	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					4	492	+									Missense_Mutation	SNP	ENST00000251473.5	37	c.116C>T	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	c	23.5	4.420251	0.83559	.	.	ENSG00000105520	ENST00000251473	T	0.47177	0.85	5.27	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.70404	0.3220	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75388	-0.3335	10	0.66056	D	0.02	.	13.0014	0.58679	0.0:0.9203:0.0:0.0797	.	39	Q96GM1	LPPR2_HUMAN	M	39	ENSP00000251473:T39M	ENSP00000251473:T39M	T	+	2	0	AC024575.1	11331257	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	7.162000	0.77515	1.225000	0.43566	0.443000	0.29094	ACG		0.622	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			13	59	0	0	0	1	0	13	59				
YY1AP1	55249	broad.mit.edu	37	1	155646464	155646464	+	Missense_Mutation	SNP	T	T	C			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:155646464T>C	ENST00000295566.4	-	5	420	c.397A>G	c.(397-399)Atg>Gtg	p.M133V	YY1AP1_ENST00000368330.2_Missense_Mutation_p.M67V|YY1AP1_ENST00000311573.5_Missense_Mutation_p.M56V|YY1AP1_ENST00000404643.1_Missense_Mutation_p.M67V|YY1AP1_ENST00000535662.1_5'Flank|YY1AP1_ENST00000368339.5_Missense_Mutation_p.M205V|YY1AP1_ENST00000405763.3_Missense_Mutation_p.M205V|YY1AP1_ENST00000368340.5_Missense_Mutation_p.M205V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Missense_Mutation_p.M56V|YY1AP1_ENST00000438245.2_Missense_Mutation_p.M67V|YY1AP1_ENST00000407221.1_Missense_Mutation_p.M56V|YY1AP1_ENST00000355499.4_Missense_Mutation_p.M67V|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000347088.5_Missense_Mutation_p.M67V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000359205.5_Missense_Mutation_p.M56V	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	133					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGTTTCTTCATCTTCAGCTGT	0.443																																						ENST00000368340.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31						c.(613-615)Atg>Gtg		YY1 associated protein 1							228.0	184.0	199.0					1																	155646464		2203	4300	6503	SO:0001583	missense	55249							g.chr1:155646464T>C	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.397A>G	1.37:g.155646464T>C	ENSP00000295566:p.Met133Val					YY1AP1_ENST00000438245.2_Missense_Mutation_p.M67V|YY1AP1_ENST00000355499.4_Missense_Mutation_p.M67V|YY1AP1_ENST00000405763.3_Missense_Mutation_p.M205V|YY1AP1_ENST00000295566.4_Missense_Mutation_p.M133V|YY1AP1_ENST00000361831.5_Missense_Mutation_p.M56V|YY1AP1_ENST00000359205.5_Missense_Mutation_p.M56V|YY1AP1_ENST00000404643.1_Missense_Mutation_p.M67V|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000368330.2_Missense_Mutation_p.M67V|YY1AP1_ENST00000368339.5_Missense_Mutation_p.M205V|YY1AP1_ENST00000311573.5_Missense_Mutation_p.M56V|YY1AP1_ENST00000347088.5_Missense_Mutation_p.M67V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.M56V|MSTO1_ENST00000452804.2_Intron	p.M205V	NM_001198904.1	NP_001185833.1					4	721	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)							B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.613A>G	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	T	6.932	0.541677	0.13250	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000405763;ENST00000438245;ENST00000443231;ENST00000454523	T;T;T;T;T;T;T;T;T;T;T	0.23552	1.93;1.94;1.96;1.94;1.93;1.91;1.92;1.94;1.96;1.94;1.9	3.78	-0.124	0.13523	.	0.401870	0.29653	N	0.011546	T	0.09774	0.0240	M	0.62723	1.935	0.24883	N	0.99221	B;B;B;B;P;B;P;B	0.38827	0.121;0.199;0.009;0.27;0.565;0.031;0.649;0.32	B;B;B;B;B;B;B;B	0.39840	0.068;0.193;0.004;0.105;0.241;0.187;0.311;0.105	T	0.14144	-1.0483	10	0.56958	D	0.05	.	3.1828	0.06590	0.2919:0.176:0.0:0.5321	.	67;133;205;67;205;133;67;205	B4DZQ4;B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;.;YYAP1_HUMAN;.;.	V	56;67;56;67;56;205;133;67;56;67;205;205;67;56;67	ENSP00000352134:M56V;ENSP00000347686:M67V;ENSP00000311138:M56V;ENSP00000316079:M67V;ENSP00000355298:M56V;ENSP00000357324:M205V;ENSP00000295566:M133V;ENSP00000357314:M67V;ENSP00000385791:M56V;ENSP00000385390:M67V;ENSP00000357323:M205V	ENSP00000295566:M133V	M	-	1	0	YY1AP1	153913088	0.047000	0.20315	0.998000	0.56505	0.343000	0.28985	-0.039000	0.12124	0.068000	0.16574	-0.714000	0.03626	ATG		0.443	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		16	74	0	0	0	1	0	16	74				
ANKRD36	375248	broad.mit.edu	37	2	97808401	97808401	+	Missense_Mutation	SNP	T	T	G			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr2:97808401T>G	ENST00000461153.2	+	7	1068	c.824T>G	c.(823-825)tTg>tGg	p.L275W	ANKRD36_ENST00000420699.2_Missense_Mutation_p.L275W			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	275										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CAACCAGCCTTGAAGGTAATT	0.303																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(823-825)tTg>tGg		ankyrin repeat domain 36							49.0	50.0	50.0					2																	97808401		692	1586	2278	SO:0001583	missense	375248							g.chr2:97808401T>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.824T>G	2.37:g.97808401T>G	ENSP00000419530:p.Leu275Trp					ANKRD36_ENST00000461153.2_Missense_Mutation_p.L275W	p.L275W	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			7	1068	+			275					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.824T>G	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	8.257	0.810372	0.16537	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000455519	T;T	0.78003	-1.14;-1.14	1.38	0.0353	0.14187	.	.	.	.	.	T	0.55016	0.1894	N	0.14661	0.345	0.24187	N	0.995569	B	0.28552	0.215	B	0.17722	0.019	T	0.42632	-0.9440	9	0.48119	T	0.1	.	4.1318	0.10152	0.0:0.0:0.3728:0.6272	.	275	A6QL64	AN36A_HUMAN	W	275	ENSP00000419530:L275W;ENSP00000391950:L275W	ENSP00000391950:L275W	L	+	2	0	ANKRD36	97172128	0.283000	0.24277	0.268000	0.24571	0.157000	0.22087	0.220000	0.17660	0.007000	0.14760	0.136000	0.15936	TTG		0.303	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			3	29	0	0	0	1	0	3	29				
OR4C11	219429	broad.mit.edu	37	11	55370956	55370956	+	Frame_Shift_Del	DEL	C	C	-	rs577404354		TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:55370956delC	ENST00000302231.4	-	1	918	c.894delG	c.(892-894)aagfs	p.K298fs		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CATGCCATAACTTTCTCATGG	0.363																																						ENST00000302231.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						c.(892-894)aafs		olfactory receptor, family 4, subfamily C, member 11							51.0	47.0	48.0					11																	55370956		2177	3997	6174	SO:0001589	frameshift_variant	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55370956delC	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.894delG	11.37:g.55370956delC	ENSP00000306651:p.Lys298fs						p.K298fs	NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN			1	918	-			298					B9EIL4|Q8NGL8	Frame_Shift_Del	DEL	ENST00000302231.4	37	c.894delG	CCDS31503.1																																																																																				0.363	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		11	45						11	45	---	---	---	---
OR8K1	390157	broad.mit.edu	37	11	56114074	56114074	+	Missense_Mutation	SNP	G	G	T			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:56114074G>T	ENST00000279783.2	+	1	654	c.560G>T	c.(559-561)tGt>tTt	p.C187F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TACTGTGACTGTATCCCTCTG	0.353										HNSCC(65;0.19)																												ENST00000279783.2																			0				large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(559-561)tGt>tTt		olfactory receptor, family 8, subfamily K, member 1							145.0	145.0	145.0					11																	56114074		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56114074G>T	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.560G>T	11.37:g.56114074G>T	ENSP00000279783:p.Cys187Phe	HNSCC(65;0.19)					p.C187F	NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN			1	654	+	Esophageal squamous(21;0.00448)		187					B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.560G>T	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	G	0.754	-0.771823	0.02951	.	.	ENSG00000150261	ENST00000279783	T	0.34667	1.35	4.37	-0.0358	0.13891	GPCR, rhodopsin-like superfamily (1);	0.554247	0.15930	N	0.237722	T	0.12263	0.0298	N	0.01242	-0.935	0.09310	N	1	B	0.28178	0.202	B	0.40101	0.319	T	0.40384	-0.9566	10	0.09590	T	0.72	-5.1129	2.9511	0.05862	0.0909:0.3499:0.2709:0.2884	.	187	Q8NGG5	OR8K1_HUMAN	F	187	ENSP00000279783:C187F	ENSP00000279783:C187F	C	+	2	0	OR8K1	55870650	0.000000	0.05858	0.079000	0.20413	0.270000	0.26580	0.286000	0.18902	0.427000	0.26145	-0.283000	0.09986	TGT		0.353	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		4	90	1	0	1	1	1	4	90				
CELF6	60677	broad.mit.edu	37	15	72582049	72582049	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr15:72582049delC	ENST00000569547.1	-	6	737	c.666delG	c.(664-666)cggfs	p.R222fs	RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Frame_Shift_Del_p.R222fs|CELF6_ENST00000569311.1_5'UTR|CELF6_ENST00000539635.1_Frame_Shift_Del_p.R83fs|CELF6_ENST00000543764.2_Frame_Shift_Del_p.R107fs|CELF6_ENST00000287202.5_Frame_Shift_Del_p.R222fs|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Frame_Shift_Del_p.R109fs			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	222					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						TCTGCTGCATCCGCCGCAGCG	0.751																																						ENST00000287202.5																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						c.(664-666)cgfs		CUGBP, Elav-like family member 6							2.0	3.0	3.0					15																	72582049		1661	3311	4972	SO:0001589	frameshift_variant	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72582049delC	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.666delG	15.37:g.72582049delC	ENSP00000454749:p.Arg222fs					RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000567083.1_Frame_Shift_Del_p.R222fs|CELF6_ENST00000543764.2_Frame_Shift_Del_p.R107fs|CELF6_ENST00000395258.2_Frame_Shift_Del_p.R109fs|CELF6_ENST00000539635.1_Frame_Shift_Del_p.R83fs|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000569311.1_5'UTR	p.R222fs	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN			6	920	-			222					B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Frame_Shift_Del	DEL	ENST00000569547.1	37	c.666delG	CCDS10242.1																																																																																				0.751	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	NM_052840		2	4						2	4	---	---	---	---
RP13-228J13.1	0	broad.mit.edu	37	X	154578866	154578866	+	RNA	DEL	T	T	-			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chrX:154578866delT	ENST00000412436.1	-	0	98				RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA																							TTTCTCTCTGTTTTTTTTTTT	0.418														73	0.0193377	0.0121	0.0086	3775	,	,		10483	0.0139		0.0149	False		,,,				2504	0.0225					ENST00000412436.1																			0																																																			0							g.chrX:154578866delT																													X.37:g.154578866delT						RP13-228J13.1_ENST00000444722.1_RNA|RP13-228J13.5_ENST00000453508.1_RNA								0	98	-									RNA	DEL	ENST00000412436.1	37																																																																																						0.418	RP13-228J13.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000058799.1			5	6						5	6	---	---	---	---
