#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NOTCH2	4853	broad.mit.edu	37	1	120539834	120539834	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr1:120539834A>T	ENST00000256646.2	-	4	756	c.537T>A	c.(535-537)tgT>tgA	p.C179*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	179	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.C179*(1)|p.C140*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGTCTCACATTTCTGCC	0.552			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Substitution - Nonsense(2)	p.C179*(1)|p.C140*(1)	prostate(2)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(535-537)tgT>tgA		notch 2							115.0	89.0	98.0					1																	120539834		2202	4300	6502	SO:0001587	stop_gained	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120539834A>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.537T>A	1.37:g.120539834A>T	ENSP00000256646:p.Cys179*		Somatic				NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140*	p.C179*	NM_024408.3	NP_077719.2	WXS	Illumina GAIIx	Phase_I	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	756	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	179			EGF-like 4.		Q5T3X7|Q99734|Q9H240	Nonsense_Mutation	SNP	ENST00000256646.2	37	c.537T>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	A	37	6.561929	0.97667	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	.	.	.	5.83	3.53	0.40419	.	0.000000	0.41194	U	0.000921	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8688	0.35303	0.7868:0.0:0.2132:0.0	.	.	.	.	X	179;140;152;140	.	ENSP00000256646:C179X	C	-	3	2	NOTCH2	120341357	0.976000	0.34144	0.998000	0.56505	0.933000	0.57130	0.678000	0.25277	1.020000	0.39573	0.477000	0.44152	TGT		0.552	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		9	81	9	81	---	---	---	---
OR2T6	254879	broad.mit.edu	37	1	248551568	248551568	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr1:248551568G>T	ENST00000355728.2	+	1	659	c.659G>T	c.(658-660)aGg>aTg	p.R220M		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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)			TCCTACACCAGGATTCTCATC	0.517																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(658-660)aGg>aTg		olfactory receptor, family 2, subfamily T, member 6							290.0	225.0	247.0					1																	248551568		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551568G>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.659G>T	1.37:g.248551568G>T	ENSP00000347965:p.Arg220Met		Somatic					p.R220M	NM_001005471.1	NP_001005471.1	WXS	Illumina GAIIx	Phase_I	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	659	+	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)		220					A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.659G>T	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	6.574	0.474282	0.12521	.	.	ENSG00000198104	ENST00000355728	T	0.00063	8.78	4.13	-6.11	0.02131	GPCR, rhodopsin-like superfamily (1);	1.076350	0.07316	N	0.876816	T	0.00210	0.0006	M	0.66939	2.045	0.09310	N	1	P	0.38535	0.635	P	0.48598	0.583	T	0.03364	-1.1044	10	0.34782	T	0.22	.	5.2657	0.15597	0.5476:0.0934:0.2644:0.0946	.	220	Q8NHC8	OR2T6_HUMAN	M	220	ENSP00000347965:R220M	ENSP00000347965:R220M	R	+	2	0	OR2T6	246618191	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-3.830000	0.00355	-1.081000	0.03105	-0.148000	0.13756	AGG		0.517	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		7	106	7	106	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32824954	32824954	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:32824954A>C	ENST00000421745.2	+	70	14113	c.13979A>C	c.(13978-13980)tAt>tCt	p.Y4660S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4660	Ubiquitin-conjugating.				apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.Y4660S(2)|p.Y4632S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAAACCTTTATAATGATGGC	0.333																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			3	Substitution - Missense(3)	p.Y4660S(2)|p.Y4632S(1)	prostate(3)	NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(13978-13980)tAt>tCt		baculoviral IAP repeat containing 6							84.0	81.0	82.0					2																	32824954		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32824954A>C	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13979A>C	2.37:g.32824954A>C	ENSP00000393596:p.Tyr4660Ser		Somatic					p.Y4660S	NM_016252.3	NP_057336	WXS	Illumina GAIIx	Phase_I	Q9NR09	BIRC6_HUMAN			70	14113	+	Acute lymphoblastic leukemia(172;0.155)		4660			Ubiquitin-conjugating.		Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13979A>C	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619665	0.87460	.	.	ENSG00000115760	ENST00000421745	T	0.38077	1.16	5.69	5.69	0.88448	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64558	-0.6379	10	0.87932	D	0	.	15.9573	0.79896	1.0:0.0:0.0:0.0	.	4660	Q9NR09	BIRC6_HUMAN	S	4660	ENSP00000393596:Y4660S	ENSP00000393596:Y4660S	Y	+	2	0	BIRC6	32678458	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.962000	0.93254	2.156000	0.67533	0.528000	0.53228	TAT		0.333	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		3	39	3	39	---	---	---	---
C2orf40	84417	broad.mit.edu	37	2	106690370	106690370	+	Silent	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:106690370C>A	ENST00000238044.3	+	3	265	c.156C>A	c.(154-156)gcC>gcA	p.A52A	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000409944.1_Silent_p.A16A	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	52			A -> T (in dbSNP:rs10187689).		cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)				lung(7)|urinary_tract(1)	8						CTAAAGTGGCCGTTGATGAGA	0.527																																						ENST00000409944.1																			0				lung(7)|urinary_tract(1)	8						c.(46-48)gcC>gcA		chromosome 2 open reading frame 40							127.0	140.0	136.0					2																	106690370		2203	4300	6503	SO:0001819	synonymous_variant	84417					extracellular region|transport vesicle		g.chr2:106690370C>A	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.156C>A	2.37:g.106690370C>A			Somatic				C2orf40_ENST00000238044.3_Silent_p.A52A|C2orf40_ENST00000489174.1_3'UTR	p.A16A			WXS	Illumina GAIIx	Phase_I	Q9H1Z8	AUGN_HUMAN			4	279	+			52					D3DVK2	Silent	SNP	ENST00000238044.3	37	c.48C>A	CCDS2072.1																																																																																				0.527	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		4	187	4	187	---	---	---	---
ZNF621	285268	broad.mit.edu	37	3	40573524	40573524	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr3:40573524G>A	ENST00000339296.5	+	5	715	c.263G>A	c.(262-264)gGt>gAt	p.G88D	ZNF621_ENST00000310898.1_Missense_Mutation_p.G88D|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.G88D|ZNF621_ENST00000431278.1_5'UTR	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G88D(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TGGTCAGGTGGTGAGTCCTGG	0.403																																						ENST00000339296.5																			1	Substitution - Missense(1)	p.G88D(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(262-264)gGt>gAt		zinc finger protein 621							65.0	72.0	69.0					3																	40573524		2203	4300	6503	SO:0001583	missense	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40573524G>A	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.263G>A	3.37:g.40573524G>A	ENSP00000340841:p.Gly88Asp		Somatic				ZNF621_ENST00000403205.2_Missense_Mutation_p.G88D|ZNF621_ENST00000310898.1_Missense_Mutation_p.G88D|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_5'UTR	p.G88D	NM_198484.3	NP_940886.1	WXS	Illumina GAIIx	Phase_I	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	5	715	+			88					Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	c.263G>A	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	g	8.240	0.806684	0.16467	.	.	ENSG00000172888	ENST00000403205;ENST00000310898;ENST00000339296;ENST00000453351	T;T;T;T	0.06142	3.34;5.4;3.34;5.44	4.17	-8.19	0.01049	.	1.147880	0.06722	N	0.775018	T	0.04407	0.0121	L	0.31845	0.965	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.12156	0.007;0.001	T	0.39522	-0.9610	10	0.33940	T	0.23	.	7.5378	0.27721	0.1534:0.6004:0.1435:0.1028	.	88;88	C9JM43;Q6ZSS3	.;ZN621_HUMAN	D	88	ENSP00000386051:G88D;ENSP00000312144:G88D;ENSP00000340841:G88D;ENSP00000408779:G88D	ENSP00000312144:G88D	G	+	2	0	ZNF621	40548528	0.002000	0.14202	0.000000	0.03702	0.103000	0.19146	-0.055000	0.11807	-1.884000	0.01119	-0.150000	0.13652	GGT		0.403	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		13	81	13	81	---	---	---	---
SEC61A1	29927	broad.mit.edu	37	3	127779441	127779441	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr3:127779441A>G	ENST00000243253.3	+	7	737	c.553A>G	c.(553-555)Act>Gct	p.T185A	SEC61A1_ENST00000424880.2_Missense_Mutation_p.T65A|SEC61A1_ENST00000464451.1_Missense_Mutation_p.T191A	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	185					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)	p.T185A(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTTCATTGCAACTAACATCTG	0.478																																						ENST00000243253.3																			1	Substitution - Missense(1)	p.T185A(1)	prostate(1)	central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(553-555)Act>Gct		Sec61 alpha 1 subunit (S. cerevisiae)							144.0	130.0	135.0					3																	127779441		2203	4300	6503	SO:0001583	missense	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127779441A>G	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.553A>G	3.37:g.127779441A>G	ENSP00000243253:p.Thr185Ala		Somatic				SEC61A1_ENST00000464451.1_Missense_Mutation_p.T191A|SEC61A1_ENST00000424880.2_Missense_Mutation_p.T65A	p.T185A	NM_013336.3	NP_037468.1	WXS	Illumina GAIIx	Phase_I	P61619	S61A1_HUMAN			7	737	+			185					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Missense_Mutation	SNP	ENST00000243253.3	37	c.553A>G	CCDS3046.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.767208	0.49574	.	.	ENSG00000058262	ENST00000464451;ENST00000243253;ENST00000424880	.	.	.	5.45	5.45	0.79879	SecY subunit domain (2);	0.046064	0.85682	D	0.000000	T	0.45054	0.1323	N	0.20986	0.625	0.80722	D	1	B	0.17268	0.021	B	0.26969	0.075	T	0.34104	-0.9842	9	0.15066	T	0.55	.	15.542	0.76057	1.0:0.0:0.0:0.0	.	185	P61619	S61A1_HUMAN	A	191;185;65	.	ENSP00000243253:T185A	T	+	1	0	SEC61A1	129262131	1.000000	0.71417	0.110000	0.21437	0.411000	0.31082	9.296000	0.96104	2.064000	0.61679	0.533000	0.62120	ACT		0.478	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		29	45	29	45	---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140754115	140754115	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr5:140754115G>A	ENST00000517434.1	+	1	465	c.465G>A	c.(463-465)atG>atA	p.M155I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	155	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.M155I(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACTAATGGAGGTCTATG	0.448																																						ENST00000517434.1																			1	Substitution - Missense(1)	p.M155I(1)	prostate(1)	breast(1)|large_intestine(1)	2						c.(463-465)atG>atA									45.0	44.0	44.0					5																	140754115		1898	4118	6016	SO:0001583	missense	56109							g.chr5:140754115G>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.465G>A	5.37:g.140754115G>A	ENSP00000429601:p.Met155Ile		Somatic				PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.M155I	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	465	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.465G>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	10.15	1.270365	0.23221	.	.	ENSG00000253731	ENST00000517434	T	0.49139	0.79	5.11	3.32	0.38043	Cadherin (4);Cadherin-like (1);	33.775500	0.01339	U	0.011506	T	0.27098	0.0664	N	0.03891	-0.335	0.19575	N	0.999962	B;B	0.16166	0.002;0.016	B;B	0.15052	0.004;0.012	T	0.22521	-1.0214	10	0.56958	D	0.05	.	3.5235	0.07751	0.2993:0.1941:0.5065:0.0	.	155;155	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	I	155	ENSP00000429601:M155I	ENSP00000429601:M155I	M	+	3	0	PCDHGA6	140734299	0.000000	0.05858	0.999000	0.59377	0.896000	0.52359	-1.587000	0.02108	1.513000	0.48852	0.563000	0.77884	ATG		0.448	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		3	49	3	49	---	---	---	---
MYLIP	29116	broad.mit.edu	37	6	16145318	16145318	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:16145318T>C	ENST00000356840.3	+	6	1216	c.1018T>C	c.(1018-1020)Tca>Cca	p.S340P	MYLIP_ENST00000349606.4_Missense_Mutation_p.S159P	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	340					cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S340P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GGACCTCGTTTCAAGAAACAA	0.517																																						ENST00000349606.4																			1	Substitution - Missense(1)	p.S340P(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(475-477)Tca>Cca		myosin regulatory light chain interacting protein							103.0	107.0	106.0					6																	16145318		2203	4300	6503	SO:0001583	missense	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16145318T>C	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.1018T>C	6.37:g.16145318T>C	ENSP00000349298:p.Ser340Pro		Somatic				MYLIP_ENST00000356840.3_Missense_Mutation_p.S340P	p.S159P			WXS	Illumina GAIIx	Phase_I	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		5	979	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	340			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	c.475T>C	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.495719	0.26774	.	.	ENSG00000007944	ENST00000356840;ENST00000349606	D;T	0.81996	-1.56;1.12	5.65	2.04	0.26737	.	0.150898	0.64402	N	0.000008	T	0.42539	0.1207	N	0.02539	-0.55	0.58432	D	0.99999	B	0.06786	0.001	B	0.08055	0.003	T	0.35101	-0.9802	10	0.46703	T	0.11	.	8.7115	0.34387	0.0:0.2222:0.0:0.7778	.	340	Q8WY64	MYLIP_HUMAN	P	340;159	ENSP00000349298:S340P;ENSP00000008686:S159P	ENSP00000008686:S159P	S	+	1	0	MYLIP	16253297	0.810000	0.29049	0.010000	0.14722	0.543000	0.35085	1.232000	0.32636	0.520000	0.28426	0.533000	0.62120	TCA		0.517	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		10	123	10	123	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39880665	39880665	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:39880665C>A	ENST00000340692.5	-	7	844	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L	MOCS1_ENST00000373175.4_Missense_Mutation_p.V252L|MOCS1_ENST00000432280.2_Missense_Mutation_p.V252L|MOCS1_ENST00000373195.3_Missense_Mutation_p.V194L|MOCS1_ENST00000373186.4_Missense_Mutation_p.V281L|MOCS1_ENST00000373188.2_Missense_Mutation_p.V281L|MOCS1_ENST00000308559.7_Missense_Mutation_p.V281L|MOCS1_ENST00000425303.2_Missense_Mutation_p.V281L			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	281	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.V281L(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCCTCTGGCACCTTCTCCAGC	0.577																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	ENST00000373186.4																			2	Substitution - Missense(2)	p.V281L(2)	prostate(2)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21						c.(841-843)Gtg>Ttg		molybdenum cofactor synthesis 1							258.0	241.0	247.0					6																	39880665		2203	4300	6503	SO:0001583	missense	4337				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39880665C>A	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.841G>T	6.37:g.39880665C>A	ENSP00000344794:p.Val281Leu		Somatic				MOCS1_ENST00000425303.2_Missense_Mutation_p.V281L|MOCS1_ENST00000340692.5_Missense_Mutation_p.V281L|MOCS1_ENST00000308559.7_Missense_Mutation_p.V281L|MOCS1_ENST00000373195.3_Missense_Mutation_p.V194L|MOCS1_ENST00000373188.2_Missense_Mutation_p.V281L|MOCS1_ENST00000373175.4_Missense_Mutation_p.V252L|MOCS1_ENST00000432280.2_Missense_Mutation_p.V252L	p.V281L	NM_005943.5	NP_005934.2	WXS	Illumina GAIIx	Phase_I	Q9NZB8	MOCS1_HUMAN			6	978	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		281			Molybdenum cofactor biosynthesis protein A.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Missense_Mutation	SNP	ENST00000340692.5	37	c.841G>T		.	.	.	.	.	.	.	.	.	.	C	6.225	0.409715	0.11812	.	.	ENSG00000124615	ENST00000373186;ENST00000308559;ENST00000373175;ENST00000373188;ENST00000373195;ENST00000341481;ENST00000340692;ENST00000425303;ENST00000432280	D;D;D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	5.05	3.24	0.37175	Molybdenum cofactor synthesis C-terminal (1);	0.158513	0.42294	N	0.000737	T	0.52273	0.1724	N	0.05608	-0.01	0.25184	N	0.990184	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.001;0.002;0.0;0.001	T	0.44174	-0.9345	9	.	.	.	-4.4337	9.8404	0.40996	0.0742:0.2664:0.6594:0.0	.	281;281;281;281;281	Q9NZB8-2;Q9NZB8-5;Q9NZB8;Q9NZB8-8;Q9NZB8-6	.;.;MOCS1_HUMAN;.;.	L	281;281;252;281;194;33;281;281;252	ENSP00000362282:V281L;ENSP00000309843:V281L;ENSP00000362270:V252L;ENSP00000362284:V281L;ENSP00000362291:V194L;ENSP00000344794:V281L;ENSP00000416478:V281L;ENSP00000410809:V252L	.	V	-	1	0	MOCS1	39988643	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.333000	0.59285	0.515000	0.28320	-0.128000	0.14901	GTG		0.577	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		136	185	136	185	---	---	---	---
EIF4H	7458	broad.mit.edu	37	7	73604629	73604629	+	Silent	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr7:73604629C>T	ENST00000265753.8	+	5	601	c.462C>T	c.(460-462)ttC>ttT	p.F154F	EIF4H_ENST00000353999.6_Intron|EIF4H_ENST00000495187.1_3'UTR|MIR590_ENST00000385008.1_RNA	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	154	HHV-1 Vhs binding site.				cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.F154F(1)		endometrium(1)|lung(2)|prostate(1)	4						GGGATGACTTCAATTCTGGTA	0.453																																						ENST00000265753.8																			1	Substitution - coding silent(1)	p.F154F(1)	prostate(1)	endometrium(1)|lung(2)|prostate(1)	4						c.(460-462)ttC>ttT		eukaryotic translation initiation factor 4H							129.0	128.0	128.0					7																	73604629		2203	4300	6503	SO:0001819	synonymous_variant	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73604629C>T		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.462C>T	7.37:g.73604629C>T			Somatic				EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Intron	p.F154F	NM_022170.1	NP_071496.1	WXS	Illumina GAIIx	Phase_I	Q15056	IF4H_HUMAN			5	601	+			154			HHV-1 Vhs binding site.		A8K3R1|D3DXF6|D3DXF8	Silent	SNP	ENST00000265753.8	37	c.462C>T	CCDS5564.1																																																																																				0.453	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		14	26	14	26	---	---	---	---
NKX3-1	4824	broad.mit.edu	37	8	23539041	23539041	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr8:23539041T>G	ENST00000380871.4	-	2	435	c.398A>C	c.(397-399)cAc>cCc	p.H133P	NKX3-1_ENST00000523261.1_Missense_Mutation_p.H58P	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	133					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.H133P(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CACCTGAGTGTGGGAGAAGGC	0.587																																						ENST00000380871.4																			1	Substitution - Missense(1)	p.H133P(1)	prostate(1)	large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(397-399)cAc>cCc		NK3 homeobox 1							107.0	112.0	110.0					8																	23539041		2203	4300	6503	SO:0001583	missense	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23539041T>G		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"""Homeoboxes / ANTP class : NKL subclass"""	7838	protein-coding gene	gene with protein product		602041	"""NK homeobox (Drosophila), family 3, A"", ""NK3 transcription factor related, locus 1 (Drosophila)"""	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.398A>C	8.37:g.23539041T>G	ENSP00000370253:p.His133Pro		Somatic				NKX3-1_ENST00000523261.1_Missense_Mutation_p.H58P	p.H133P	NM_006167.3	NP_006158.2	WXS	Illumina GAIIx	Phase_I	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	2	435	-		Prostate(55;0.114)	133					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Missense_Mutation	SNP	ENST00000380871.4	37	c.398A>C	CCDS6042.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308812	0.81247	.	.	ENSG00000167034	ENST00000380871;ENST00000300332;ENST00000523261	D;D	0.95756	-3.8;-3.8	6.17	6.17	0.99709	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.074474	0.52532	D	0.000072	D	0.93648	0.7971	N	0.03071	-0.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95676	0.8728	10	0.72032	D	0.01	.	14.7743	0.69713	0.0:0.0:0.0:1.0	.	133	Q99801	NKX31_HUMAN	P	133;89;58	ENSP00000370253:H133P;ENSP00000429729:H58P	ENSP00000300332:H89P	H	-	2	0	NKX3-1	23594986	1.000000	0.71417	0.999000	0.59377	0.700000	0.40528	8.018000	0.88722	2.371000	0.80710	0.533000	0.62120	CAC		0.587	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2			90	33	90	33	---	---	---	---
MRPL15	29088	broad.mit.edu	37	8	55049839	55049839	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr8:55049839A>C	ENST00000260102.4	+	3	349	c.275A>C	c.(274-276)cAg>cCg	p.Q92P		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	92					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.Q92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTCAGACGCCAGTATAAGCCT	0.398																																						ENST00000260102.4																			1	Substitution - Missense(1)	p.Q92P(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.(274-276)cAg>cCg		mitochondrial ribosomal protein L15							122.0	119.0	120.0					8																	55049839		2203	4300	6503	SO:0001583	missense	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55049839A>C	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.275A>C	8.37:g.55049839A>C	ENSP00000260102:p.Gln92Pro		Somatic					p.Q92P	NM_014175.3	NP_054894.1	WXS	Illumina GAIIx	Phase_I	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		3	349	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	92					Q96Q54|Q9H0Y1	Missense_Mutation	SNP	ENST00000260102.4	37	c.275A>C	CCDS6158.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.232482	0.79688	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	4.97	4.97	0.65823	Ribosomal protein L18e/L15P (2);	0.000000	0.85682	D	0.000000	T	0.56978	0.2022	L	0.42008	1.315	0.80722	D	1	B	0.21381	0.055	B	0.27715	0.082	T	0.55592	-0.8117	9	0.42905	T	0.14	-26.6787	14.9604	0.71153	1.0:0.0:0.0:0.0	.	92	Q9P015	RM15_HUMAN	P	92	.	ENSP00000260102:Q92P	Q	+	2	0	MRPL15	55212392	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.287000	0.95975	1.985000	0.57927	0.533000	0.62120	CAG		0.398	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175		55	39	55	39	---	---	---	---
TJP2	9414	broad.mit.edu	37	9	71844114	71844114	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr9:71844114G>C	ENST00000377245.4	+	10	1676	c.1468G>C	c.(1468-1470)Gca>Cca	p.A490P	TJP2_ENST00000539225.1_Missense_Mutation_p.A521P|TJP2_ENST00000265384.7_Missense_Mutation_p.A490P|TJP2_ENST00000348208.4_Missense_Mutation_p.A490P|TJP2_ENST00000453658.2_Missense_Mutation_p.A467P|TJP2_ENST00000535702.1_Missense_Mutation_p.A494P	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	490					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)	p.A490P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCAACCAAAAGCAGCCCCGAG	0.388																																						ENST00000377245.4																			1	Substitution - Missense(1)	p.A490P(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						c.(1468-1470)Gca>Cca		tight junction protein 2							204.0	190.0	195.0					9																	71844114		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71844114G>C	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1468G>C	9.37:g.71844114G>C	ENSP00000366453:p.Ala490Pro		Somatic				TJP2_ENST00000453658.2_Missense_Mutation_p.A467P|TJP2_ENST00000539225.1_Missense_Mutation_p.A521P|TJP2_ENST00000535702.1_Missense_Mutation_p.A494P|TJP2_ENST00000348208.4_Missense_Mutation_p.A490P|TJP2_ENST00000265384.7_Missense_Mutation_p.A490P	p.A490P	NM_004817.3	NP_004808.2	WXS	Illumina GAIIx	Phase_I	Q9UDY2	ZO2_HUMAN			10	1676	+			490					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.1468G>C	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267649	0.40095	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.09630	2.98;2.96;2.97;2.97;2.97;3.02	5.61	-4.15	0.03881	.	0.426506	0.25027	N	0.033712	T	0.04092	0.0114	N	0.05441	-0.05	0.43531	D	0.995811	B;B;B;B;B	0.13594	0.001;0.001;0.003;0.0;0.008	B;B;B;B;B	0.13407	0.003;0.005;0.005;0.003;0.009	T	0.46775	-0.9167	10	0.05721	T	0.95	.	14.6992	0.69145	0.0976:0.6131:0.2892:0.0	.	521;494;490;490;490	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	P	467;490;490;490;494;521	ENSP00000392178:A467P;ENSP00000366453:A490P;ENSP00000345893:A490P;ENSP00000265384:A490P;ENSP00000442090:A494P;ENSP00000438262:A521P	ENSP00000265384:A490P	A	+	1	0	TJP2	71033934	0.005000	0.15991	0.217000	0.23759	0.982000	0.71751	-0.533000	0.06157	-1.317000	0.02292	0.557000	0.71058	GCA		0.388	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		7	141	7	141	---	---	---	---
SCAI	286205	broad.mit.edu	37	9	127765792	127765792	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr9:127765792C>G	ENST00000336505.6	-	10	977	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.E330Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	307					negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.E330Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTCATTGGCTCCCTTTCCAGA	0.413																																						ENST00000336505.6																			1	Substitution - Missense(1)	p.E330Q(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						c.(919-921)Gag>Cag		suppressor of cancer cell invasion							116.0	109.0	112.0					9																	127765792		1889	4121	6010	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127765792C>G	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.919G>C	9.37:g.127765792C>G	ENSP00000336756:p.Glu307Gln		Somatic				SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.E330Q	p.E307Q	NM_001144877.2	NP_001138349.1	WXS	Illumina GAIIx	Phase_I	Q8N9R8	SCAI_HUMAN			10	977	-								Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.919G>C	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825053	0.90955	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.54479	0.57;0.57	5.05	5.05	0.67936	.	0.097200	0.64402	D	0.000002	T	0.73426	0.3585	M	0.78285	2.405	0.53005	D	0.999966	D;D	0.62365	0.991;0.989	D;D	0.74023	0.982;0.979	T	0.76961	-0.2765	10	0.62326	D	0.03	-13.9199	17.4034	0.87467	0.0:1.0:0.0:0.0	.	307;330	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	Q	307;330	ENSP00000336756:E307Q;ENSP00000362650:E330Q	ENSP00000336756:E307Q	E	-	1	0	SCAI	126805613	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.340000	0.79590	0.455000	0.32223	GAG		0.413	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		20	56	20	56	---	---	---	---
ITIH2	3698	broad.mit.edu	37	10	7780658	7780658	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr10:7780658A>G	ENST00000358415.4	+	16	2198	c.2032A>G	c.(2032-2034)Atc>Gtc	p.I678V	ITIH2_ENST00000379587.4_Missense_Mutation_p.I667V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	678	O-glycosylated at three sites.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.I678V(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AACGCCCGTGATCTCCATGCT	0.552																																						ENST00000358415.4																			1	Substitution - Missense(1)	p.I678V(1)	prostate(1)	NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(2032-2034)Atc>Gtc		inter-alpha-trypsin inhibitor heavy chain 2							127.0	109.0	115.0					10																	7780658		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7780658A>G	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2032A>G	10.37:g.7780658A>G	ENSP00000351190:p.Ile678Val		Somatic				ITIH2_ENST00000379587.4_Missense_Mutation_p.I667V	p.I678V	NM_002216.2	NP_002207.2	WXS	Illumina GAIIx	Phase_I	P19823	ITIH2_HUMAN			16	2198	+			678					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.2032A>G	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	A	2.394	-0.339205	0.05243	.	.	ENSG00000151655	ENST00000358415;ENST00000379587	T;T	0.01388	4.95;4.95	5.23	-10.5	0.00291	.	5.882280	0.00541	N	0.000224	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41770	-0.9490	10	0.15499	T	0.54	-0.1401	9.7923	0.40713	0.2158:0.0903:0.6044:0.0895	.	678	P19823	ITIH2_HUMAN	V	678;667	ENSP00000351190:I678V;ENSP00000368906:I667V	ENSP00000351190:I678V	I	+	1	0	ITIH2	7820664	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.476000	0.06591	-2.546000	0.00482	-0.386000	0.06593	ATC		0.552	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		9	75	9	75	---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24884077	24884077	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr10:24884077G>C	ENST00000396432.2	-	20	4241	c.3755C>G	c.(3754-3756)cCt>cGt	p.P1252R	ARHGAP21_ENST00000493154.1_5'Flank|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P1039R	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1251	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.P1251R(1)|p.P1251fs*2(1)|p.P1252R(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACGATCTAGAGGATCTTCTTT	0.299																																						ENST00000396432.2																			3	Substitution - Missense(2)|Deletion - Frameshift(1)	p.P1251R(1)|p.P1251fs*2(1)|p.P1252R(1)	prostate(2)|pancreas(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(3754-3756)cCt>cGt		Rho GTPase activating protein 21							43.0	45.0	44.0					10																	24884077		2201	4296	6497	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24884077G>C	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.3755C>G	10.37:g.24884077G>C	ENSP00000379709:p.Pro1252Arg		Somatic				ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P1039R	p.P1252R	NM_020824.3	NP_065875.3	WXS	Illumina GAIIx	Phase_I	Q5T5U3	RHG21_HUMAN			20	4241	-			1251			Rho-GAP.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.3755C>G	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584864	0.65992	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000418325	T;T;T	0.18338	2.22;2.22;2.22	5.52	5.52	0.82312	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.049408	0.85682	D	0.000000	T	0.28928	0.0718	N	0.20845	0.615	0.80722	D	1	P	0.52463	0.953	D	0.64144	0.922	T	0.04017	-1.0984	10	0.62326	D	0.03	.	19.7999	0.96502	0.0:0.0:1.0:0.0	.	1251	Q5T5U3	RHG21_HUMAN	R	1252;701;1039;93	ENSP00000379709:P1252R;ENSP00000365604:P1039R;ENSP00000402761:P93R	ENSP00000365604:P1039R	P	-	2	0	ARHGAP21	24924083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.421000	0.73353	2.751000	0.94390	0.650000	0.86243	CCT		0.299	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		4	25	4	25	---	---	---	---
TPH1	7166	broad.mit.edu	37	11	18062244	18062244	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:18062244A>C	ENST00000250018.2	-	1	628	c.66T>G	c.(64-66)ttT>ttG	p.F22L	TPH1_ENST00000341556.2_Missense_Mutation_p.F22L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	22	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.F22L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCTTTAAGGAAAAAATGAGAC	0.328																																						ENST00000250018.2																			1	Substitution - Missense(1)	p.F22L(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25						c.(64-66)ttT>ttG		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						55.0	51.0	52.0					11																	18062244		2199	4290	6489	SO:0001583	missense	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18062244A>C	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.66T>G	11.37:g.18062244A>C	ENSP00000250018:p.Phe22Leu		Somatic				TPH1_ENST00000341556.2_Missense_Mutation_p.F22L	p.F22L	NM_004179.2	NP_004170.1	WXS	Illumina GAIIx	Phase_I	P17752	TPH1_HUMAN			1	628	-			22			ACT.		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	c.66T>G	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303318	0.60195	.	.	ENSG00000129167	ENST00000250018;ENST00000341556;ENST00000528338	D;D;D	0.99098	-5.42;-5.42;-5.42	5.28	1.47	0.22746	Amino acid-binding ACT (1);	0.000000	0.85682	D	0.000000	D	0.97636	0.9225	M	0.68593	2.085	0.58432	D	0.999997	P	0.41102	0.738	B	0.42798	0.398	D	0.94967	0.8113	10	0.36615	T	0.2	-19.3977	9.4738	0.38858	0.6406:0.0:0.3594:0.0	.	22	P17752	TPH1_HUMAN	L	22;22;32	ENSP00000250018:F22L;ENSP00000343550:F22L;ENSP00000436081:F32L	ENSP00000250018:F22L	F	-	3	2	TPH1	18018820	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	1.767000	0.38501	0.301000	0.22738	-0.415000	0.06103	TTT		0.328	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		5	38	5	38	---	---	---	---
CD82	3732	broad.mit.edu	37	11	44626916	44626916	+	Silent	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:44626916C>T	ENST00000227155.4	+	6	521	c.273C>T	c.(271-273)ttC>ttT	p.F91F	RP11-58K22.5_ENST00000533814.1_RNA|CD82_ENST00000342935.3_Intron|RP11-58K22.4_ENST00000532524.1_RNA|CD82_ENST00000530931.1_3'UTR	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	91						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.F91F(1)		large_intestine(1)|ovary(1)	2						ACTTTGCTTTCCTGCTCCTGA	0.617																																						ENST00000227155.4																			1	Substitution - coding silent(1)	p.F91F(1)	prostate(1)	large_intestine(1)|ovary(1)	2						c.(271-273)ttC>ttT		CD82 molecule							116.0	100.0	106.0					11																	44626916		2203	4299	6502	SO:0001819	synonymous_variant	3732					integral to plasma membrane	protein binding	g.chr11:44626916C>T	U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.273C>T	11.37:g.44626916C>T			Somatic				CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Intron	p.F91F	NM_002231.3	NP_002222.1	WXS	Illumina GAIIx	Phase_I	P27701	CD82_HUMAN			6	521	+			91					D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Silent	SNP	ENST00000227155.4	37	c.273C>T	CCDS7909.1																																																																																				0.617	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			27	32	27	32	---	---	---	---
PFDN5	5204	broad.mit.edu	37	12	53689395	53689395	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr12:53689395T>C	ENST00000551018.1	+	1	321	c.44T>C	c.(43-45)cTa>cCa	p.L15P	PFDN5_ENST00000550846.1_Missense_Mutation_p.L15P|PFDN5_ENST00000334478.4_Missense_Mutation_p.L15P|PFDN5_ENST00000351500.3_Missense_Mutation_p.L15P	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	15					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)	p.L15P(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						CTGCCGCAGCTAGAAATGCTC	0.592																																						ENST00000551018.1																			1	Substitution - Missense(1)	p.L15P(1)	prostate(1)	kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						c.(43-45)cTa>cCa		prefoldin subunit 5							103.0	101.0	101.0					12																	53689395		2203	4300	6503	SO:0001583	missense	5204				'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr12:53689395T>C	D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"""prefoldin 5"""			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.44T>C	12.37:g.53689395T>C	ENSP00000447942:p.Leu15Pro		Somatic				PFDN5_ENST00000334478.4_Missense_Mutation_p.L15P|PFDN5_ENST00000351500.3_Missense_Mutation_p.L15P|PFDN5_ENST00000550846.1_Missense_Mutation_p.L15P	p.L15P	NM_002624.3	NP_002615.2	WXS	Illumina GAIIx	Phase_I	Q99471	PFD5_HUMAN			1	321	+			15					A8K9A8|Q54AA8|Q9C083|Q9C084	Missense_Mutation	SNP	ENST00000551018.1	37	c.44T>C	CCDS8853.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.670440	0.88348	.	.	ENSG00000123349	ENST00000551018;ENST00000351500;ENST00000334478	D;T;D	0.83419	-1.72;-1.48;-1.72	5.73	5.73	0.89815	Prefoldin (1);	0.000000	0.64402	D	0.000001	D	0.85885	0.5801	M	0.92923	3.36	0.80722	D	1	B;P	0.43938	0.051;0.822	B;B	0.36464	0.048;0.225	D	0.88764	0.3259	10	0.59425	D	0.04	.	14.2815	0.66216	0.0:0.0:0.0:1.0	.	15;15	Q9C083;Q99471	.;PFD5_HUMAN	P	15	ENSP00000447942:L15P;ENSP00000266964:L15P;ENSP00000334188:L15P	ENSP00000243040:L15P	L	+	2	0	PFDN5	51975662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.030000	0.70903	2.324000	0.78689	0.533000	0.62120	CTA		0.592	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405368.2			3	93	3	93	---	---	---	---
LHFP	10186	broad.mit.edu	37	13	40175053	40175053	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr13:40175053G>A	ENST00000379589.3	-	2	763	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	LHFP_ENST00000495922.1_5'Flank	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	101						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)	p.L101F(1)	HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGGGCAGTGAGCGCCACCAGG	0.587			T	HMGA2	lipoma																																	ENST00000379589.3				Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	1	Substitution - Missense(1)	p.L101F(1)	prostate(1)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13						c.(301-303)Ctc>Ttc		lipoma HMGIC fusion partner							132.0	129.0	130.0					13																	40175053		2203	4300	6503	SO:0001583	missense	10186					integral to membrane	DNA binding	g.chr13:40175053G>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.301C>T	13.37:g.40175053G>A	ENSP00000368908:p.Leu101Phe		Somatic					p.L101F	NM_005780.2	NP_005771.1	WXS	Illumina GAIIx	Phase_I	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	2	763	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	101					B2R7M2|Q53FC0|Q96SH5	Missense_Mutation	SNP	ENST00000379589.3	37	c.301C>T	CCDS9369.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547714	0.27652	.	.	ENSG00000183722	ENST00000379589	T	0.73469	-0.75	5.38	4.53	0.55603	.	0.206642	0.31601	N	0.007375	T	0.68705	0.3030	L	0.45470	1.425	0.54753	D	0.999987	B	0.26363	0.147	B	0.33690	0.168	T	0.63844	-0.6545	9	.	.	.	.	12.5831	0.56401	0.0802:0.0:0.9198:0.0	.	101	Q9Y693	LHFP_HUMAN	F	101	ENSP00000368908:L101F	.	L	-	1	0	LHFP	39073053	1.000000	0.71417	0.758000	0.31321	0.054000	0.15201	6.355000	0.73041	2.522000	0.85027	0.655000	0.94253	CTC		0.587	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		12	136	12	136	---	---	---	---
BBS4	585	broad.mit.edu	37	15	73015166	73015166	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr15:73015166T>A	ENST00000268057.4	+	7	478	c.437T>A	c.(436-438)aTa>aAa	p.I146K	BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.I134K|BBS4_ENST00000395205.2_Missense_Mutation_p.I154K|BBS4_ENST00000542334.1_5'UTR	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	146	Interaction with PCM1.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)	p.I146K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GTTTGCTACATATACCTGAAG	0.373									Bardet-Biedl syndrome																													ENST00000268057.4																			1	Substitution - Missense(1)	p.I146K(1)	prostate(1)	autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(436-438)aTa>aAa		Bardet-Biedl syndrome 4							112.0	105.0	107.0					15																	73015166		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73015166T>A	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.437T>A	15.37:g.73015166T>A	ENSP00000268057:p.Ile146Lys		Somatic				BBS4_ENST00000395205.2_Missense_Mutation_p.I154K|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.I134K|BBS4_ENST00000542334.1_5'UTR	p.I146K	NM_033028.4	NP_149017.2	WXS	Illumina GAIIx	Phase_I	Q96RK4	BBS4_HUMAN			7	478	+			146			Interaction with PCM1.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.437T>A	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	T	12.97	2.098500	0.37048	.	.	ENSG00000140463	ENST00000268057;ENST00000539603;ENST00000395205	T;T;T	0.59772	0.24;0.24;0.24	5.34	4.21	0.49690	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.341254	0.38058	N	0.001828	T	0.36496	0.0969	N	0.17474	0.49	0.80722	D	1	B;B;B	0.24426	0.001;0.103;0.004	B;B;B	0.23574	0.012;0.047;0.027	T	0.09530	-1.0670	10	0.09338	T	0.73	-3.3588	10.3598	0.43987	0.0:0.0786:0.0:0.9214	.	134;154;146	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	K	146;134;154	ENSP00000268057:I146K;ENSP00000442492:I134K;ENSP00000378631:I154K	ENSP00000268057:I146K	I	+	2	0	BBS4	70802219	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	5.788000	0.69020	0.873000	0.35799	0.455000	0.32223	ATA		0.373	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		18	46	18	46	---	---	---	---
NAA60	79903	broad.mit.edu	37	16	3529476	3529476	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr16:3529476C>A	ENST00000407558.4	+	4	419	c.116C>A	c.(115-117)cCa>cAa	p.P39Q	NAA60_ENST00000608722.1_Missense_Mutation_p.P39Q|NAA60_ENST00000360862.5_5'UTR|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000610180.1_Missense_Mutation_p.P39Q|NAA60_ENST00000572942.1_Missense_Mutation_p.P39Q|NAA60_ENST00000424546.2_Missense_Mutation_p.P46Q|NAA60_ENST00000575076.1_Missense_Mutation_p.P39Q|NAA60_ENST00000577013.1_Missense_Mutation_p.P39Q|NAA60_ENST00000570551.1_Intron|NAA60_ENST00000608993.1_5'UTR|NAA60_ENST00000421765.3_Missense_Mutation_p.P39Q|NAA60_ENST00000576916.1_Missense_Mutation_p.P39Q|NAA60_ENST00000414063.2_Missense_Mutation_p.P39Q|NAA60_ENST00000573580.1_5'UTR|NAA60_ENST00000572584.1_Missense_Mutation_p.P39Q|NAA60_ENST00000570819.1_Missense_Mutation_p.P39Q			Q9H7X0	NAA60_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	39	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|histone H4 acetylation (GO:0043967)|N-terminal peptidyl-methionine acetylation (GO:0017196)|nucleosome assembly (GO:0006334)	Golgi membrane (GO:0000139)	H4 histone acetyltransferase activity (GO:0010485)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						CTCAGGTACCCAGACTCATGG	0.478																																						ENST00000407558.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						c.(115-117)cCa>cAa		N(alpha)-acetyltransferase 60, NatF catalytic subunit							76.0	74.0	75.0					16																	3529476		1988	4178	6166	SO:0001583	missense	79903						N-acetyltransferase activity	g.chr16:3529476C>A		CCDS45396.1	16p13.3	2012-07-13	2011-08-02	2011-08-02	ENSG00000122390	ENSG00000122390	2.3.1.48, 2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	25875	protein-coding gene	gene with protein product		614246	"""N-acetyltransferase 15 (GCN5-related, putative)"""	NAT15		12975309, 21750686	Standard	NM_001083600		Approved	FLJ14154	uc010btm.3	Q9H7X0	OTTHUMG00000150268	ENST00000407558.4:c.116C>A	16.37:g.3529476C>A	ENSP00000385903:p.Pro39Gln		Somatic				NAA60_ENST00000360862.5_5'UTR|NAA60_ENST00000610180.1_Missense_Mutation_p.P39Q|NAA60_ENST00000576916.1_Missense_Mutation_p.P39Q|NAA60_ENST00000570819.1_Missense_Mutation_p.P39Q|NAA60_ENST00000421765.3_Missense_Mutation_p.P39Q|NAA60_ENST00000414063.2_Missense_Mutation_p.P39Q|NAA60_ENST00000424546.2_Missense_Mutation_p.P46Q|NAA60_ENST00000575076.1_Missense_Mutation_p.P39Q|NAA60_ENST00000570551.1_Intron|NAA60_ENST00000577013.1_Missense_Mutation_p.P39Q|NAA60_ENST00000608722.1_Missense_Mutation_p.P39Q|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000608993.1_5'UTR|NAA60_ENST00000573580.1_5'UTR|NAA60_ENST00000572584.1_Missense_Mutation_p.P39Q|NAA60_ENST00000572942.1_Missense_Mutation_p.P39Q	p.P39Q			WXS	Illumina GAIIx	Phase_I	Q9H7X0	NAT15_HUMAN			4	419	+			39			N-acetyltransferase.		B3KRQ0|B4DLZ0|B4DPZ8|B4DYC4|D3DUC2|E7EQ65|Q6IA31|Q6UX26	Missense_Mutation	SNP	ENST00000407558.4	37	c.116C>A	CCDS45396.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866743	0.91511	.	.	ENSG00000122390	ENST00000424546;ENST00000407558;ENST00000414063;ENST00000421765	T;T;T	0.54479	0.57;0.78;0.78	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.73418	0.3584	M	0.73598	2.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.74731	-0.3566	10	0.54805	T	0.06	-7.1837	18.3696	0.90402	0.0:1.0:0.0:0.0	.	46;39	B4DLZ0;Q9H7X0	.;NAA60_HUMAN	Q	46;39;39;39	ENSP00000401237:P46Q;ENSP00000385903:P39Q;ENSP00000393224:P39Q	ENSP00000385903:P39Q	P	+	2	0	NAA60	3469477	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.453000	0.80700	2.648000	0.89879	0.650000	0.86243	CCA		0.478	NAA60-001	KNOWN	NMD_exception|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317235.2	NM_024845		3	32	3	32	---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29996717	29996717	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr16:29996717G>T	ENST00000308893.4	+	14	2649	c.1606G>T	c.(1606-1608)Ggg>Tgg	p.G536W	TAOK2_ENST00000543033.1_Missense_Mutation_p.G536W|TAOK2_ENST00000416441.2_Missense_Mutation_p.G363W|TAOK2_ENST00000279394.3_Missense_Mutation_p.G536W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	536					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)	p.G536W(3)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCTGGCTTTGGGGCAGAGGC	0.672																																						ENST00000308893.4																			3	Substitution - Missense(3)	p.G536W(3)	prostate(3)	breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1606-1608)Ggg>Tgg		TAO kinase 2							16.0	16.0	16.0					16																	29996717		2189	4294	6483	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29996717G>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1606G>T	16.37:g.29996717G>T	ENSP00000310094:p.Gly536Trp		Somatic				TAOK2_ENST00000543033.1_Missense_Mutation_p.G536W|TAOK2_ENST00000416441.2_Missense_Mutation_p.G363W|TAOK2_ENST00000279394.3_Missense_Mutation_p.G536W	p.G536W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	WXS	Illumina GAIIx	Phase_I	Q9UL54	TAOK2_HUMAN			14	2649	+			536					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1606G>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427569	0.62733	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.42513	0.97;0.97;0.97	5.51	5.51	0.81932	.	0.189593	0.44483	D	0.000458	T	0.52451	0.1735	L	0.40543	1.245	0.39482	D	0.967902	D;D;D;D;D	0.89917	0.999;1.0;0.982;0.969;0.999	D;D;D;P;D	0.74674	0.924;0.984;0.915;0.781;0.972	T	0.49862	-0.8894	9	.	.	.	.	11.8049	0.52150	0.0:0.0:0.7184:0.2815	.	727;363;536;536;536	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	W	536	ENSP00000310094:G536W;ENSP00000440336:G536W;ENSP00000279394:G536W	.	G	+	1	0	TAOK2	29904218	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.396000	0.59684	2.580000	0.87095	0.563000	0.77884	GGG		0.672	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		8	10	8	10	---	---	---	---
RP11-156P1.2	0	broad.mit.edu	37	17	45127331	45127331	+	IGR	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:45127331C>A	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							AACTCGCTCCCGCATGACCCA	0.418																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	101927060							g.chr17:45127331C>A																													17.37:g.45127331C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.418	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			55	339	55	339	---	---	---	---
BZRAP1	9256	broad.mit.edu	37	17	56385061	56385061	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:56385061C>A	ENST00000343736.4	-	24	5057	c.4894G>T	c.(4894-4896)Gct>Tct	p.A1632S	BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1572S|BZRAP1_ENST00000355701.3_Missense_Mutation_p.A1632S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1632	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.A1632S(3)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAAACAGAGCCACAAAGATC	0.567																																						ENST00000355701.3																			3	Substitution - Missense(3)	p.A1632S(3)	prostate(3)	cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(4894-4896)Gct>Tct		benzodiazapine receptor (peripheral) associated protein 1							137.0	107.0	117.0					17																	56385061		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56385061C>A	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4894G>T	17.37:g.56385061C>A	ENSP00000345824:p.Ala1632Ser		Somatic				BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1572S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1632S	p.A1632S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	WXS	Illumina GAIIx	Phase_I	O95153	RIMB1_HUMAN			24	5764	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1632			SH3 2.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.4894G>T	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	35	5.453169	0.96223	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.55588	0.51;0.51;0.51	5.79	5.79	0.91817	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.79753	0.4500	M	0.91196	3.185	0.58432	D	0.999991	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.997;0.997	D	0.83427	0.0036	10	0.72032	D	0.01	.	19.0299	0.92952	0.0:1.0:0.0:0.0	.	1632;1572;1632	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	S	1632;1632;1572	ENSP00000347929:A1632S;ENSP00000345824:A1632S;ENSP00000268893:A1572S	ENSP00000268893:A1572S	A	-	1	0	BZRAP1	53740060	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.296000	0.78790	2.736000	0.93811	0.655000	0.94253	GCT		0.567	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		7	64	7	64	---	---	---	---
SIRT7	51547	broad.mit.edu	37	17	79873382	79873382	+	Silent	SNP	G	G	A	rs146448282	byFrequency	TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:79873382G>A	ENST00000328666.6	-	5	476	c.414C>T	c.(412-414)gcC>gcT	p.A138A		NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	138	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)	p.A138A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGCTCAGGTCGGCAGCACTGC	0.652													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18208	0.0		0.0	False		,,,				2504	0.0					ENST00000328666.6																			2	Substitution - coding silent(2)	p.A138A(2)	prostate(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(412-414)gcC>gcT		sirtuin 7		G		19,4385	26.2+/-53.5	0,19,2183	67.0	58.0	61.0		414	-9.1	0.0	17	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SIRT7	NM_016538.2		0,21,6481	AA,AG,GG		0.0233,0.4314,0.1615		138/401	79873382	21,12983	2202	4300	6502	SO:0001819	synonymous_variant	51547				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	g.chr17:79873382G>A	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.414C>T	17.37:g.79873382G>A			Somatic					p.A138A	NM_016538.2	NP_057622.1	WXS	Illumina GAIIx	Phase_I	Q9NRC8	SIRT7_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		5	476	-	all_neural(118;0.0878)|Ovarian(332;0.12)		138			Deacetylase sirtuin-type.		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Silent	SNP	ENST00000328666.6	37	c.414C>T	CCDS11792.1																																																																																				0.652	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		3	28	3	28	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39334540	39334540	+	Silent	SNP	A	A	G			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:39334540A>G	ENST00000221419.5	-	6	1188	c.822T>C	c.(820-822)aaT>aaC	p.N274N	AC008982.2_ENST00000600473.1_RNA|HNRNPL_ENST00000600873.1_Silent_p.N141N	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	274					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.N274N(1)|p.N141N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TCTTGAACACATTCAAGCGTG	0.507																																						ENST00000221419.5																			2	Substitution - coding silent(2)	p.N274N(1)|p.N141N(1)	prostate(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(820-822)aaT>aaC		heterogeneous nuclear ribonucleoprotein L							161.0	135.0	144.0					19																	39334540		2203	4300	6503	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39334540A>G	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.822T>C	19.37:g.39334540A>G			Somatic				HNRNPL_ENST00000600873.1_Silent_p.N141N	p.N274N	NM_001533.2	NP_001524.2	WXS	Illumina GAIIx	Phase_I	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		6	1188	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		274					A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.822T>C	CCDS33015.1																																																																																				0.507	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			31	60	31	60	---	---	---	---
PSG2	5670	broad.mit.edu	37	19	43585093	43585093	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:43585093T>C	ENST00000406487.1	-	2	468	c.370A>G	c.(370-372)Atc>Gtc	p.I124V	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	124	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.I124V(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CGCTTTATGATGTGTAAGGTG	0.493																																						ENST00000406487.1																			2	Substitution - Missense(2)	p.I124V(2)	prostate(2)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(370-372)Atc>Gtc		pregnancy specific beta-1-glycoprotein 2							113.0	113.0	113.0					19																	43585093		2200	4279	6479	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43585093T>C		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.370A>G	19.37:g.43585093T>C	ENSP00000385706:p.Ile124Val		Somatic					p.I124V	NM_031246.3	NP_112536.2	WXS	Illumina GAIIx	Phase_I	P11465	PSG2_HUMAN			2	468	-		Prostate(69;0.00682)	124			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.370A>G	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	0.043	-1.278132	0.01410	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.62788	0.0	0.569	-0.842	0.10748	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.47930	0.1472	L	0.35249	1.045	0.09310	N	1	B;P	0.35107	0.173;0.484	B;B	0.42916	0.177;0.402	T	0.40869	-0.9540	8	0.10111	T	0.7	.	.	.	.	.	124;124	B5MCM8;P11465	.;PSG2_HUMAN	V	124	ENSP00000385706:I124V	ENSP00000332984:I124V	I	-	1	0	PSG2	48276933	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.437000	0.02419	-0.424000	0.07382	0.155000	0.16302	ATC		0.493	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		16	160	16	160	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51870363	51870363	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr20:51870363G>A	ENST00000371497.5	+	2	1253	c.366G>A	c.(364-366)atG>atA	p.M122I	TSHZ2_ENST00000329613.6_Missense_Mutation_p.M119I|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.M119I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	122					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M122I(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAATTGCATGGATAAAATGA	0.522																																						ENST00000371497.5																			2	Substitution - Missense(2)	p.M122I(2)	prostate(2)	NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(364-366)atG>atA		teashirt zinc finger homeobox 2							82.0	71.0	74.0					20																	51870363		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870363G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.366G>A	20.37:g.51870363G>A	ENSP00000360552:p.Met122Ile		Somatic				TSHZ2_ENST00000603338.2_Missense_Mutation_p.M119I|TSHZ2_ENST00000329613.6_Missense_Mutation_p.M119I	p.M122I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	WXS	Illumina GAIIx	Phase_I	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1253	+			122					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.366G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709961	0.48517	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.13307	2.6;2.6	5.7	5.7	0.88788	.	0.042170	0.85682	D	0.000000	T	0.16342	0.0393	L	0.51422	1.61	0.58432	D	0.999994	P	0.35844	0.524	B	0.28849	0.095	T	0.01557	-1.1325	10	0.66056	D	0.02	-24.213	19.8272	0.96622	0.0:0.0:1.0:0.0	.	122	Q9NRE2	TSH2_HUMAN	I	122;119	ENSP00000360552:M122I;ENSP00000333114:M119I	ENSP00000333114:M119I	M	+	3	0	TSHZ2	51303770	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	5.328000	0.65887	2.685000	0.91497	0.643000	0.83706	ATG		0.522	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		24	32	24	32	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17072407	17072407	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr22:17072407C>T	ENST00000359963.3	-	1	1293	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	345					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.G345A(1)|p.G345D(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGGCACTTGCCTGGCCTCTG	0.547																																						ENST00000359963.3																			2	Substitution - Missense(2)	p.G345A(1)|p.G345D(1)	prostate(1)|liver(1)	breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1033-1035)gGc>gAc		chaperonin containing TCP1, subunit 8 (theta)-like 2							95.0	95.0	95.0					22																	17072407		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072407C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1034G>A	22.37:g.17072407C>T	ENSP00000353048:p.Gly345Asp		Somatic					p.G345D	NM_014406.4	NP_055221.1	WXS	Illumina GAIIx	Phase_I	Q96SF2	TCPQM_HUMAN			1	1293	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	345					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1034G>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	10.37	1.330931	0.24167	.	.	ENSG00000198445	ENST00000359963	D	0.94758	-3.51	1.98	1.98	0.26296	.	0.000000	0.40222	U	0.001148	D	0.96386	0.8821	M	0.83774	2.66	0.38063	D	0.936125	D	0.89917	1.0	D	0.97110	1.0	D	0.95842	0.8867	10	0.87932	D	0	-25.166	7.4423	0.27190	0.0:1.0:0.0:0.0	.	345	Q96SF2	TCPQM_HUMAN	D	345	ENSP00000353048:G345D	ENSP00000353048:G345D	G	-	2	0	CCT8L2	15452407	0.070000	0.21116	0.775000	0.31657	0.086000	0.17979	2.959000	0.49153	1.115000	0.41800	0.379000	0.24179	GGC		0.547	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			4	137	4	137	---	---	---	---
SLC7A4	6545	broad.mit.edu	37	22	21384286	21384286	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr22:21384286C>T	ENST00000382932.2	-	3	1404	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	AC002472.11_ENST00000450652.1_RNA|SLC7A4_ENST00000403586.1_Missense_Mutation_p.G446D	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	446					basic amino acid transport (GO:0015802)|cellular amino acid metabolic process (GO:0006520)|transport (GO:0006810)	integral component of membrane (GO:0016021)	basic amino acid transmembrane transporter activity (GO:0015174)	p.G446D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGTACAGTGCCCACCAGCTG	0.657																																						ENST00000382932.2																			1	Substitution - Missense(1)	p.G446D(1)	prostate(1)	breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18						c.(1336-1338)gGc>gAc		solute carrier family 7, member 4	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						32.0	31.0	31.0					22																	21384286		2203	4300	6503	SO:0001583	missense	6545				cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	g.chr22:21384286C>T	AJ000730	CCDS33608.1	22q11.21	2013-07-19	2013-07-19		ENSG00000099960	ENSG00000099960		"""Solute carriers"""	11062	protein-coding gene	gene with protein product		603752	"""solute carrier family 7 (cationic amino acid transporter, y+ system), member 4"", ""solute carrier family 7 (orphan transporter), member 4"""			9598310, 11665818	Standard	NM_004173		Approved	HCAT3, CAT-4, VH	uc002zud.3	O43246	OTTHUMG00000150896	ENST00000382932.2:c.1337G>A	22.37:g.21384286C>T	ENSP00000372390:p.Gly446Asp		Somatic				SLC7A4_ENST00000403586.1_Missense_Mutation_p.G446D	p.G446D	NM_004173.2	NP_004164.2	WXS	Illumina GAIIx	Phase_I	O43246	CTR4_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	1404	-	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	446					Q0P5U2|Q3KNQ6|Q4VC45|Q6IBY8|Q96H88	Missense_Mutation	SNP	ENST00000382932.2	37	c.1337G>A	CCDS33608.1	.	.	.	.	.	.	.	.	.	.	C	5.820	0.335588	0.11013	.	.	ENSG00000099960	ENST00000403586;ENST00000382932	D;D	0.85258	-1.96;-1.96	5.37	-4.25	0.03766	.	0.728890	0.11821	N	0.526167	T	0.77267	0.4105	L	0.54323	1.7	0.21822	N	0.999528	B	0.02656	0.0	B	0.06405	0.002	T	0.60156	-0.7318	10	0.14252	T	0.57	.	12.1782	0.54198	0.0:0.3039:0.0:0.6961	.	446	O43246	CTR4_HUMAN	D	446	ENSP00000384278:G446D;ENSP00000372390:G446D	ENSP00000372390:G446D	G	-	2	0	SLC7A4	19714286	0.004000	0.15560	0.005000	0.12908	0.047000	0.14425	-0.021000	0.12504	-0.570000	0.06022	-0.224000	0.12420	GGC		0.657	SLC7A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320467.1	NM_004173		6	19	6	19	---	---	---	---
IGLV2-8	28817	broad.mit.edu	37	22	23165714	23165714	+	RNA	SNP	C	C	A	rs375756545		TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr22:23165714C>A	ENST00000390317.2	+	0	447				MIR650_ENST00000385101.1_RNA					immunoglobulin lambda variable 2-8																		CCTCCCTGACCGTCTCTGGGC	0.522																																						ENST00000390317.2																			0																				166.0	162.0	163.0					22																	23165714		1906	4123	6029			28817							g.chr22:23165714C>A	X97462		22q11.2	2012-02-08			ENSG00000211671	ENSG00000278196		"""Immunoglobulins / IGL locus"""	5895	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151240		22.37:g.23165714C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	447	+									RNA	SNP	ENST00000390317.2	37																																																																																						0.522	IGLV2-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321845.1	NG_000002		5	245	5	245	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40118655	40118656	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr20:40118655_40118656insT	ENST00000373233.3	-	12	1619_1620	c.1442_1443insA	c.(1441-1443)aacfs	p.N481fs	CHD6_ENST00000309279.7_Frame_Shift_Ins_p.N481fs	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	481	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAAAATACAGTTTTTTCTGCA	0.376																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(1441-1443)aacfs		chromodomain helicase DNA binding protein 6																																				SO:0001589	frameshift_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40118655_40118656insT	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.1443dupA	20.37:g.40118661_40118661dupT	ENSP00000362330:p.Asn481fs		Somatic				CHD6_ENST00000309279.7_Frame_Shift_Ins_p.N481fs	p.N481fs	NM_032221.3	NP_115597.3	WXS	Illumina GAIIx	Phase_I	Q8TD26	CHD6_HUMAN			12	1619_1620	-		Myeloproliferative disorder(115;0.00425)	481			Helicase ATP-binding.		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Frame_Shift_Ins	INS	ENST00000373233.3	37	c.1442_1443insA	CCDS13317.1																																																																																				0.376	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			73	126	73	126	---	---	---	---
