#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MIIP	60672	broad.mit.edu	37	1	12090150	12090150	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:12090150T>G	ENST00000235332.4	+	8	1080	c.911T>G	c.(910-912)tTt>tGt	p.F304C	MIIP_ENST00000436478.2_Intron|MIIP_ENST00000466860.1_3'UTR	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	304								p.F304C(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGAAAGAGCTTTGACGCCTCT	0.697																																						ENST00000235332.4																			1	Substitution - Missense(1)	p.F304C(1)	prostate(1)	autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(910-912)tTt>tGt		migration and invasion inhibitory protein							43.0	51.0	48.0					1																	12090150		2203	4300	6503	SO:0001583	missense	60672							g.chr1:12090150T>G	AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.911T>G	1.37:g.12090150T>G	ENSP00000235332:p.Phe304Cys					MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Intron	p.F304C	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN			8	1080	+			304					C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	ENST00000235332.4	37	c.911T>G	CCDS143.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.951322	0.34471	.	.	ENSG00000116691	ENST00000235332	T	0.23950	1.88	4.99	2.62	0.31277	.	0.316577	0.28414	N	0.015435	T	0.41096	0.1144	M	0.78801	2.425	0.36009	D	0.837894	D	0.71674	0.998	P	0.61592	0.891	T	0.50127	-0.8864	10	0.87932	D	0	-5.9258	3.6397	0.08162	0.1932:0.1027:0.0:0.7041	.	304	Q5JXC2	MIIP_HUMAN	C	304	ENSP00000235332:F304C	ENSP00000235332:F304C	F	+	2	0	MIIP	12012737	0.988000	0.35896	0.860000	0.33809	0.093000	0.18481	2.205000	0.42770	0.709000	0.31976	0.254000	0.18369	TTT		0.697	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006941.1	NM_021933		14	38	14	38	---	---	---	---
EPS15	2060	broad.mit.edu	37	1	51826841	51826841	+	Splice_Site	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:51826841A>G	ENST00000371733.3	-	24	2641		c.e24+1		EPS15_ENST00000371730.2_Splice_Site|EPS15_ENST00000396122.4_Splice_Site	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15						cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)|p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CACAGTACTTACAGCACTGAA	0.358			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	thyroid(1)|prostate(1)|central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.e24+1		epidermal growth factor receptor pathway substrate 15							118.0	116.0	116.0					1																	51826841		2203	4300	6503	SO:0001630	splice_region_variant	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51826841A>G	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.2544+1T>C	1.37:g.51826841A>G						EPS15_ENST00000396122.4_Splice_Site|EPS15_ENST00000371730.2_Splice_Site		NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			24	2641	-								B2R8J7|D3DPJ2|Q5SRH4	Splice_Site	SNP	ENST00000371733.3	37		CCDS557.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152012	0.78001	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8025	0.69926	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EPS15	51599429	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.041000	0.70988	2.230000	0.72887	0.482000	0.46254	.		0.358	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981	Intron	40	128	40	128	---	---	---	---
CNNM4	26504	broad.mit.edu	37	2	97464910	97464910	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:97464910C>A	ENST00000377075.2	+	4	1896	c.1798C>A	c.(1798-1800)Cat>Aat	p.H600N	CNNM4_ENST00000540067.1_Missense_Mutation_p.H87N|MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	600					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)	p.H600N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTACGCCCGCCATTACCTGTA	0.567																																						ENST00000377075.2																			1	Substitution - Missense(1)	p.H600N(1)	prostate(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						c.(1798-1800)Cat>Aat		cyclin M4							91.0	83.0	86.0					2																	97464910		2203	4300	6503	SO:0001583	missense	26504				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		g.chr2:97464910C>A	AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1798C>A	2.37:g.97464910C>A	ENSP00000366275:p.His600Asn					CNNM4_ENST00000540067.1_Missense_Mutation_p.H87N|CNNM4_ENST00000496186.1_3'UTR	p.H600N	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN			4	1896	+			600					B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	ENST00000377075.2	37	c.1798C>A	CCDS2024.2	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732014	0.48939	.	.	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.40756	1.02	5.02	4.09	0.47781	RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.107964	0.64402	D	0.000008	T	0.31482	0.0798	L	0.35414	1.06	0.42041	D	0.991073	B;B	0.32781	0.384;0.219	B;B	0.31869	0.137;0.126	T	0.14420	-1.0473	10	0.37606	T	0.19	-2.8035	12.5146	0.56026	0.2683:0.7317:0.0:0.0	.	87;600	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	N	600;87	ENSP00000366275:H600N	ENSP00000366275:H600N	H	+	1	0	CNNM4	96828637	0.998000	0.40836	0.895000	0.35142	0.798000	0.45092	3.881000	0.56152	2.492000	0.84095	0.561000	0.74099	CAT		0.567	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252954.1	NM_020184		9	94	9	94	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165970412	165970412	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:165970412G>T	ENST00000360093.3	-	20	4074	c.3583C>A	c.(3583-3585)Ctt>Att	p.L1195I	SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146I|SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1195					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L1195I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTTTTTCGAAGATTCCACCAG	0.343																																						ENST00000360093.3																			1	Substitution - Missense(1)	p.L1195I(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(3583-3585)Ctt>Att		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						196.0	171.0	179.0					2																	165970412		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165970412G>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.3583C>A	2.37:g.165970412G>T	ENSP00000353206:p.Leu1195Ile					SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195I|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146I	p.L1195I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			20	4074	-			1195					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.3583C>A		.	.	.	.	.	.	.	.	.	.	G	18.30	3.593920	0.66219	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	5.51	5.51	0.81932	Sodium ion transport-associated (1);	0.000000	0.50627	D	0.000109	D	0.89560	0.6750	L	0.41632	1.29	0.80722	D	1	P;P;B;B;P	0.39404	0.589;0.474;0.419;0.419;0.672	B;B;B;B;P	0.46850	0.28;0.285;0.187;0.187;0.529	D	0.89129	0.3508	10	0.48119	T	0.1	.	13.6835	0.62502	0.0742:0.0:0.9258:0.0	.	1195;1146;1146;1146;1195	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	I	1195;1195;1146;1146	ENSP00000353206:L1195I;ENSP00000283254:L1195I;ENSP00000386726:L1146I;ENSP00000403348:L1146I	ENSP00000283254:L1195I	L	-	1	0	SCN3A	165678658	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.736000	0.68597	2.588000	0.87417	0.585000	0.79938	CTT		0.343	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		7	289	7	289	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233620970	233620970	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:233620970T>C	ENST00000409547.1	+	8	616	c.305T>C	c.(304-306)cTg>cCg	p.L102P	GIGYF2_ENST00000409196.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409480.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000373566.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000373563.4_Missense_Mutation_p.L102P	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	102					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.L102P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCTGCTGTCCTGCGATTGACA	0.393																																						ENST00000373566.3																			1	Substitution - Missense(1)	p.L102P(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(304-306)cTg>cCg		GRB10 interacting GYF protein 2							54.0	57.0	56.0					2																	233620970		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233620970T>C	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.305T>C	2.37:g.233620970T>C	ENSP00000386537:p.Leu102Pro					GIGYF2_ENST00000409480.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409547.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000373563.4_Missense_Mutation_p.L102P	p.L102P			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	6	502	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	102					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.305T>C	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	T	31	5.061973	0.93846	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000428883;ENST00000409480;ENST00000430720;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000429187;ENST00000440945	T;T;T;T;T;T;T;T;T;T	0.79749	-1.1;-1.1;-1.3;-1.1;-1.28;-1.1;-1.1;-1.09;-1.1;-1.24	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	D	0.90393	0.6993	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.999	D	0.91720	0.5388	10	0.87932	D	0	-15.7738	16.194	0.82011	0.0:0.0:0.0:1.0	.	102;102;102	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	P	102	ENSP00000362667:L102P;ENSP00000362664:L102P;ENSP00000402712:L102P;ENSP00000386765:L102P;ENSP00000396958:L102P;ENSP00000386537:L102P;ENSP00000404195:L102P;ENSP00000387070:L102P;ENSP00000387170:L102P;ENSP00000410297:L102P	ENSP00000362664:L102P	L	+	2	0	GIGYF2	233329214	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.040000	0.89188	2.225000	0.72522	0.460000	0.39030	CTG		0.393	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		3	78	3	78	---	---	---	---
AGTR1	185	broad.mit.edu	37	3	148458896	148458896	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:148458896A>C	ENST00000497524.1	+	2	465	c.74A>C	c.(73-75)aAt>aCt	p.N25T	AGTR1_ENST00000475347.1_Missense_Mutation_p.N25T|AGTR1_ENST00000461609.1_Missense_Mutation_p.N25T|AGTR1_ENST00000418473.2_Missense_Mutation_p.N25T|AGTR1_ENST00000542281.1_Missense_Mutation_p.N25T|AGTR1_ENST00000474935.1_Missense_Mutation_p.N25T|AGTR1_ENST00000404754.2_Missense_Mutation_p.N25T|AGTR1_ENST00000349243.3_Missense_Mutation_p.N25T|AGTR1_ENST00000402260.1_Missense_Mutation_p.N25T	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	25					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.N25T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GGAAGGCATAATTACATATTT	0.353																																						ENST00000542281.1																			1	Substitution - Missense(1)	p.N25T(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(73-75)aAt>aCt		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						109.0	108.0	108.0					3																	148458896		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148458896A>C	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.74A>C	3.37:g.148458896A>C	ENSP00000419422:p.Asn25Thr					AGTR1_ENST00000474935.1_Missense_Mutation_p.N25T|AGTR1_ENST00000418473.2_Missense_Mutation_p.N25T|AGTR1_ENST00000497524.1_Missense_Mutation_p.N25T|AGTR1_ENST00000475347.1_Missense_Mutation_p.N25T|AGTR1_ENST00000461609.1_Missense_Mutation_p.N25T|AGTR1_ENST00000402260.1_Missense_Mutation_p.N25T|AGTR1_ENST00000404754.2_Missense_Mutation_p.N25T|AGTR1_ENST00000349243.3_Missense_Mutation_p.N25T	p.N25T	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	520	+			25					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.74A>C	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	A	9.716	1.158339	0.21454	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.34	-2.58	0.06228	.	0.690699	0.15102	N	0.280486	T	0.19208	0.0461	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18903	-1.0322	10	0.23891	T	0.37	-3.3495	7.098	0.25321	0.4706:0.0:0.4139:0.1156	.	25	P30556	AGTR1_HUMAN	T	25	ENSP00000419422:N25T;ENSP00000273430:N25T;ENSP00000443186:N25T;ENSP00000398832:N25T;ENSP00000385612:N25T;ENSP00000419783:N25T;ENSP00000418084:N25T;ENSP00000418851:N25T;ENSP00000385641:N25T	ENSP00000273430:N25T	N	+	2	0	AGTR1	149941586	0.030000	0.19436	0.610000	0.28997	0.988000	0.76386	0.347000	0.20014	-0.330000	0.08514	0.533000	0.62120	AAT		0.353	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			24	168	24	168	---	---	---	---
DGKQ	1609	broad.mit.edu	37	4	956989	956989	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:956989G>T	ENST00000273814.3	-	16	1897	c.1824C>A	c.(1822-1824)agC>agA	p.S608R	DGKQ_ENST00000502309.1_5'UTR	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	608	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|protein kinase C signaling (GO:0070528)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to ATP (GO:0033198)|thrombin receptor signaling pathway (GO:0070493)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|phospholipase binding (GO:0043274)	p.S608R(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTTCCGGAAGCTGCAGAGCA	0.627																																					Esophageal Squamous(17;537 645 4447 26373)	ENST00000273814.3																			1	Substitution - Missense(1)	p.S608R(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9						c.(1822-1824)agC>agA		diacylglycerol kinase, theta 110kDa							29.0	33.0	31.0					4																	956989		2201	4299	6500	SO:0001583	missense	1609				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	g.chr4:956989G>T	L38707	CCDS3342.1	4p16.3	2008-08-29	2002-08-29		ENSG00000145214	ENSG00000145214			2856	protein-coding gene	gene with protein product		601207	"""diacylglycerol kinase, theta (110kD)"""	DAGK4		8617502, 9099683	Standard	NM_001347		Approved	DAGK, DAGK7	uc003gbw.4	P52824	OTTHUMG00000088629	ENST00000273814.3:c.1824C>A	4.37:g.956989G>T	ENSP00000273814:p.Ser608Arg					DGKQ_ENST00000502309.1_5'UTR	p.S608R	NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		16	1897	-			608			DAGKc.		Q6P3W4	Missense_Mutation	SNP	ENST00000273814.3	37	c.1824C>A	CCDS3342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.70|17.70	3.454755|3.454755	0.63290|0.63290	.|.	.|.	ENSG00000145214|ENSG00000145214	ENST00000509465|ENST00000273814	.|T	.|0.20598	.|2.06	5.0|5.0	-0.552|-0.552	0.11818|0.11818	.|Diacylglycerol kinase, catalytic domain (3);	.|0.188277	.|0.56097	.|D	.|0.000031	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.12502|0.12502	0.225|0.225	0.51482|0.51482	D|D	0.999922|0.999922	.|D;P	.|0.57571	.|0.98;0.57	.|P;B	.|0.61070	.|0.883;0.206	T|T	0.03202|0.03202	-1.1061|-1.1061	5|10	.|0.72032	.|D	.|0.01	.|.	9.1584|9.1584	0.37007|0.37007	0.6213:0.0:0.3787:0.0|0.6213:0.0:0.3787:0.0	.|.	.|608;608	.|E9KL49;P52824	.|.;DGKQ_HUMAN	D|R	542|608	.|ENSP00000273814:S608R	.|ENSP00000273814:S608R	A|S	-|-	2|3	0|2	DGKQ|DGKQ	946989|946989	0.857000|0.857000	0.29778|0.29778	0.999000|0.999000	0.59377|0.59377	0.760000|0.760000	0.43138|0.43138	0.062000|0.062000	0.14389|0.14389	-0.005000|-0.005000	0.14395|0.14395	-0.321000|-0.321000	0.08615|0.08615	GCT|AGC		0.627	DGKQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000200888.1			3	49	3	49	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79458218	79458218	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:79458218T>A	ENST00000264895.6	+	72	11602	c.11162T>A	c.(11161-11163)cTg>cAg	p.L3721Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3717					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.L3721Q(2)|p.L3722Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAACTCCAGCTGGAGAAAGTC	0.418																																						ENST00000264895.6																			3	Substitution - Missense(3)	p.L3721Q(2)|p.L3722Q(1)	prostate(3)	breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(11161-11163)cTg>cAg		Fraser syndrome 1							133.0	131.0	132.0					4																	79458218		1831	4092	5923	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79458218T>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11162T>A	4.37:g.79458218T>A	ENSP00000264895:p.Leu3721Gln						p.L3721Q	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			72	11602	+			3716					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.11162T>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.859440	0.91433	.	.	ENSG00000138759	ENST00000264895	T	0.64438	-0.1	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000002	T	0.76870	0.4048	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78886	-0.2027	10	0.87932	D	0	.	16.371	0.83361	0.0:0.0:0.0:1.0	.	3721	E9PHH6	.	Q	3721	ENSP00000264895:L3721Q	ENSP00000264895:L3721Q	L	+	2	0	FRAS1	79677242	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.898000	0.87363	2.267000	0.75376	0.477000	0.44152	CTG		0.418	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				32	238	32	238	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5303543	5303543	+	Silent	SNP	G	G	A	rs35200003		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr5:5303543G>A	ENST00000274181.7	+	19	3090	c.2952G>A	c.(2950-2952)caG>caA	p.Q984Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	984	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q984Q(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCAACTCTCAGAGCTGCCCAC	0.677																																						ENST00000274181.7																			2	Substitution - coding silent(2)	p.Q984Q(2)	prostate(2)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(2950-2952)caG>caA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							11.0	13.0	12.0					5																	5303543		2000	4154	6154	SO:0001819	synonymous_variant	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5303543G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2952G>A	5.37:g.5303543G>A							p.Q984Q	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			19	3090	+			984			TSP type-1 3.		C6G490|Q8IVE2	Silent	SNP	ENST00000274181.7	37	c.2952G>A	CCDS43299.1																																																																																				0.677	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		4	15	4	15	---	---	---	---
BMP6	654	broad.mit.edu	37	6	7845502	7845502	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:7845502G>A	ENST00000283147.6	+	2	953	c.794G>A	c.(793-795)gGg>gAg	p.G265E		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	265					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)	p.G265E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TGTGTTATGGGGAGTTTTAAA	0.473																																						ENST00000283147.6																			1	Substitution - Missense(1)	p.G265E(1)	prostate(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(793-795)gGg>gAg		bone morphogenetic protein 6							99.0	98.0	98.0					6																	7845502		2203	4300	6503	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7845502G>A	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.794G>A	6.37:g.7845502G>A	ENSP00000283147:p.Gly265Glu						p.G265E	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			2	953	+	Ovarian(93;0.0721)		265					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.794G>A	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	G	7.690	0.690827	0.15039	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.62498	0.02	5.41	3.62	0.41486	Transforming growth factor-beta, N-terminal (1);	0.344925	0.33419	N	0.004931	T	0.19005	0.0456	N	0.16602	0.42	0.32125	N	0.587561	B	0.18741	0.03	B	0.23716	0.048	T	0.08889	-1.0700	10	0.02654	T	1	.	10.4749	0.44659	0.2137:0.0:0.7863:0.0	.	265	P22004	BMP6_HUMAN	E	187;265;228	ENSP00000283147:G265E	ENSP00000283147:G265E	G	+	2	0	BMP6	7790501	0.999000	0.42202	0.983000	0.44433	0.972000	0.66771	2.863000	0.48396	1.278000	0.44430	0.557000	0.71058	GGG		0.473	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		13	164	13	164	---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50740431	50740431	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:50740431A>G	ENST00000008391.3	+	8	1441	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.M405V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCTCAGTGAAATGCTGAACTA	0.478																																						ENST00000008391.3																			1	Substitution - Missense(1)	p.M405V(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(1213-1215)Atg>Gtg		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							69.0	66.0	67.0					6																	50740431		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740431A>G	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1213A>G	6.37:g.50740431A>G	ENSP00000008391:p.Met405Val						p.M405V	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			8	1441	+	Lung NSC(77;0.0334)		405			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000008391.3	37	c.1213A>G	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.457655	0.63401	.	.	ENSG00000008197	ENST00000008391	D	0.96136	-3.92	5.46	5.46	0.80206	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93628	0.7965	L	0.59436	1.845	0.80722	D	1	P	0.38440	0.631	B	0.43360	0.417	D	0.94691	0.7874	10	0.72032	D	0.01	-16.8175	15.5329	0.75977	1.0:0.0:0.0:0.0	.	405	Q7Z6R9	AP2D_HUMAN	V	405	ENSP00000008391:M405V	ENSP00000008391:M405V	M	+	1	0	TFAP2D	50848390	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	2.083000	0.62718	0.383000	0.25322	ATG		0.478	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		33	94	33	94	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54735045	54735045	+	Start_Codon_SNP	SNP	A	A	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:54735045A>T	ENST00000306858.7	+	2	117	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	1								p.M1L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACTTGCAAGCATGGAGACCTC	0.378																																						ENST00000306858.7																			1	Substitution - Missense(1)	p.M1L(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1-3)Atg>Ttg		family with sequence similarity 83, member B							124.0	104.0	111.0					6																	54735045		2203	4300	6503	SO:0001582	initiator_codon_variant	222584							g.chr6:54735045A>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1A>T	6.37:g.54735045A>T	ENSP00000304078:p.Met1Leu						p.M1L	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			2	117	+	Lung NSC(77;0.0178)|Renal(3;0.122)		1					Q2M1P3|Q96DQ2	Translation_Start_Site	SNP	ENST00000306858.7	37	c.1A>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.397930	0.83120	.	.	ENSG00000168143	ENST00000306858	T	0.08896	3.04	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	.	.	.	0.35905	D	0.830693	D	0.64830	0.994	D	0.70716	0.97	T	0.01940	-1.1243	9	0.87932	D	0	-25.1178	15.4383	0.75162	1.0:0.0:0.0:0.0	.	1	Q5T0W9	FA83B_HUMAN	L	1	ENSP00000304078:M1L	ENSP00000304078:M1L	M	+	1	0	FAM83B	54843004	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	8.510000	0.90532	2.110000	0.64415	0.482000	0.46254	ATG		0.378	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	Missense_Mutation	19	175	19	175	---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63990299	63990299	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:63990299T>C	ENST00000370657.4	-	4	1190	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	386					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.Y386C(2)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTGTCATTGTATCCCCATGT	0.468																																						ENST00000370657.4																			2	Substitution - Missense(2)	p.Y386C(2)	prostate(2)	NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1156-1158)tAc>tGc		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						172.0	172.0	172.0					6																	63990299		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990299T>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1157A>G	6.37:g.63990299T>C	ENSP00000359691:p.Tyr386Cys					LGSN_ENST00000370658.5_3'UTR	p.Y386C			Q5TDP6	LGSN_HUMAN			4	1190	-			386					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.1157A>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	T	3.889	-0.024376	0.07634	.	.	ENSG00000146166	ENST00000370657	D	0.86030	-2.06	5.86	4.69	0.59074	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.100250	0.64402	D	0.000001	T	0.67505	0.2900	L	0.33245	0.995	0.80722	D	1	B	0.21753	0.06	B	0.30105	0.111	T	0.64960	-0.6284	10	0.38643	T	0.18	-17.2712	9.846	0.41028	0.2733:0.0:0.0:0.7267	.	386	Q5TDP6	LGSN_HUMAN	C	386	ENSP00000359691:Y386C	ENSP00000359691:Y386C	Y	-	2	0	LGSN	64048258	1.000000	0.71417	0.503000	0.27626	0.115000	0.19883	1.837000	0.39201	1.025000	0.39708	0.533000	0.62120	TAC		0.468	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		132	299	132	299	---	---	---	---
PRPS1L1	221823	broad.mit.edu	37	7	18067240	18067240	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:18067240C>T	ENST00000506618.2	-	1	246	c.166G>A	c.(166-168)Gtt>Att	p.V56I		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	56					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.V56I(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCACTCTGAACGATGTAGACA	0.488																																						ENST00000506618.2																			2	Substitution - Missense(2)	p.V56I(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(166-168)Gtt>Att		phosphoribosyl pyrophosphate synthetase 1-like 1							366.0	354.0	358.0					7																	18067240		2203	4300	6503	SO:0001583	missense	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18067240C>T	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.166G>A	7.37:g.18067240C>T	ENSP00000424595:p.Val56Ile						p.V56I	NM_175886.2	NP_787082	P21108	PRPS3_HUMAN			1	246	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		56					Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	c.166G>A	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.300561	0.01364	.	.	ENSG00000229937	ENST00000506618	D	0.91577	-2.87	4.4	-1.89	0.07689	.	.	.	.	.	T	0.71213	0.3313	N	0.05330	-0.07	.	.	.	B	0.09022	0.002	B	0.11329	0.006	T	0.63180	-0.6695	8	0.02654	T	1	.	1.9455	0.03355	0.1301:0.4204:0.1276:0.3219	.	56	P21108	PRPS3_HUMAN	I	56	ENSP00000424595:V56I	ENSP00000424595:V56I	V	-	1	0	PRPS1L1	18033765	0.634000	0.27190	0.009000	0.14445	0.718000	0.41266	1.315000	0.33608	-0.268000	0.09312	-0.808000	0.03180	GTT		0.488	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886		9	533	9	533	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91631337	91631337	+	Silent	SNP	A	A	G			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:91631337A>G	ENST00000359028.2	+	9	2367	c.2142A>G	c.(2140-2142)ctA>ctG	p.L714L	AKAP9_ENST00000356239.3_Silent_p.L702L|AKAP9_ENST00000358100.2_Silent_p.L714L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	714	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.L714L(1)|p.L702L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTCAAAGCTAAAAGATTTAC	0.289			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - coding silent(2)	p.L714L(1)|p.L702L(1)	prostate(2)	NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(2140-2142)ctA>ctG		A kinase (PRKA) anchor protein 9							23.0	25.0	24.0					7																	91631337		1966	4156	6122	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631337A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2142A>G	7.37:g.91631337A>G						AKAP9_ENST00000358100.2_Silent_p.L714L|AKAP9_ENST00000356239.3_Silent_p.L702L	p.L714L			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	2367	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		714			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.2142A>G																																																																																					0.289	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		3	101	3	101	---	---	---	---
STAG3	10734	broad.mit.edu	37	7	99795408	99795408	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:99795408A>T	ENST00000426455.1	+	11	1480	c.1073A>T	c.(1072-1074)gAa>gTa	p.E358V	STAG3_ENST00000394018.2_Missense_Mutation_p.E300V|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|STAG3_ENST00000317296.5_Missense_Mutation_p.E358V	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	358	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)		p.E358V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCACCGAGAAGTCCGCCTG	0.562																																						ENST00000426455.1																			1	Substitution - Missense(1)	p.E358V(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66						c.(1072-1074)gAa>gTa		stromal antigen 3							89.0	88.0	88.0					7																	99795408		2203	4300	6503	SO:0001583	missense	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99795408A>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1073A>T	7.37:g.99795408A>T	ENSP00000400359:p.Glu358Val					STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.E300V|STAG3_ENST00000317296.5_Missense_Mutation_p.E358V	p.E358V	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN			11	1480	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		358			SCD.		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	c.1073A>T	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	16.01	3.001410	0.54254	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000339784;ENST00000317296	T;T;T	0.34072	1.38;1.38;1.38	5.71	5.71	0.89125	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.124068	0.35646	N	0.003073	T	0.39279	0.1072	M	0.78223	2.4	0.39065	D	0.960591	P;B	0.41313	0.745;0.033	B;B	0.37601	0.254;0.036	T	0.51395	-0.8711	10	0.87932	D	0	-2.5797	10.0627	0.42284	0.8311:0.1689:0.0:0.0	.	300;358	B4DZ10;Q9UJ98	.;STAG3_HUMAN	V	358;300;316;358	ENSP00000400359:E358V;ENSP00000377586:E300V;ENSP00000319318:E358V	ENSP00000319318:E358V	E	+	2	0	STAG3	99633344	0.998000	0.40836	0.992000	0.48379	0.201000	0.24016	3.834000	0.55798	2.176000	0.68965	0.528000	0.53228	GAA		0.562	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		8	146	8	146	---	---	---	---
DEFB135	613209	broad.mit.edu	37	8	11841989	11841989	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr8:11841989G>T	ENST00000382208.2	+	2	124	c.124G>T	c.(124-126)Ggt>Tgt	p.G42C		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	42					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.G42C(1)		endometrium(1)|large_intestine(2)|prostate(1)	4						GCGACTGCAAGGTACTTGCCG	0.383																																						ENST00000382208.2																			1	Substitution - Missense(1)	p.G42C(1)	prostate(1)	endometrium(1)|large_intestine(2)|prostate(1)	4						c.(124-126)Ggt>Tgt		defensin, beta 135							102.0	100.0	101.0					8																	11841989		1898	4112	6010	SO:0001583	missense	613209				defense response to bacterium	extracellular region		g.chr8:11841989G>T	DQ012025	CCDS43710.1	8p23.1	2009-05-27			ENSG00000205883	ENSG00000205883		"""Defensins, beta"""	32400	protein-coding gene	gene with protein product						16033865	Standard	NM_001033017		Approved		uc003wuw.1	Q30KP9	OTTHUMG00000158719	ENST00000382208.2:c.124G>T	8.37:g.11841989G>T	ENSP00000371643:p.Gly42Cys						p.G42C	NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN			2	124	+			42					Q4QY37	Missense_Mutation	SNP	ENST00000382208.2	37	c.124G>T	CCDS43710.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398766	0.42512	.	.	ENSG00000205883	ENST00000382208	T	0.63417	-0.04	3.34	3.34	0.38264	.	0.000000	0.32655	N	0.005811	T	0.74884	0.3775	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64071	-0.6493	9	0.87932	D	0	-20.7073	10.4608	0.44578	0.0:0.0:1.0:0.0	.	42	Q30KP9	DB135_HUMAN	C	42	ENSP00000371643:G42C	ENSP00000371643:G42C	G	+	1	0	DEFB135	11879398	0.451000	0.25705	0.036000	0.18154	0.002000	0.02628	2.965000	0.49200	2.157000	0.67596	0.561000	0.74099	GGT		0.383	DEFB135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351888.1	NM_001033017		4	136	4	136	---	---	---	---
PTDSS1	9791	broad.mit.edu	37	8	97342509	97342509	+	Splice_Site	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr8:97342509G>T	ENST00000517309.1	+	11	1568	c.1242G>T	c.(1240-1242)aaG>aaT	p.K414N	PTDSS1_ENST00000455950.2_Splice_Site_p.K268N|PTDSS1_ENST00000522072.1_Splice_Site_p.K211N	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	414					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)	p.K414N(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	ACCGAGAAAAGGTATGGAAGG	0.473																																						ENST00000517309.1																			1	Substitution - Missense(1)	p.K414N(1)	prostate(1)	endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(1240-1242)aaG>aaT		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						114.0	99.0	104.0					8																	97342509		2203	4300	6503	SO:0001630	splice_region_variant	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97342509G>T	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.1242+1G>T	8.37:g.97342509G>T						PTDSS1_ENST00000522072.1_Splice_Site_p.K211N|PTDSS1_ENST00000455950.2_Splice_Site_p.K268N	p.K414N	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			11	1568	+	Breast(36;6.18e-05)		414					E5RFC5|Q9BUQ5	Splice_Site	SNP	ENST00000517309.1	37	c.1242G>T	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041057	0.55003	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.52295	0.79;0.78;0.67	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.40119	0.1104	L	0.42245	1.32	0.80722	D	1	P	0.40000	0.698	B	0.33454	0.164	T	0.35943	-0.9768	10	0.46703	T	0.11	-20.6926	16.5306	0.84357	0.0:0.0:1.0:0.0	.	414	P48651	PTSS1_HUMAN	N	414;268;211	ENSP00000430548:K414N;ENSP00000401248:K268N;ENSP00000430928:K211N	ENSP00000401248:K268N	K	+	3	2	PTDSS1	97411685	1.000000	0.71417	1.000000	0.80357	0.390000	0.30446	7.900000	0.87376	2.631000	0.89168	0.561000	0.74099	AAG		0.473	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2		Missense_Mutation	4	93	4	93	---	---	---	---
ABHD17B	51104	broad.mit.edu	37	9	74485071	74485071	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:74485071G>A	ENST00000333421.6	-	3	686	c.575C>T	c.(574-576)tCt>tTt	p.S192F	ABHD17B_ENST00000377041.2_Missense_Mutation_p.S192F	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	192						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.S192F(1)									AGTCAGAGGAGAATGAAGAAT	0.408																																						ENST00000333421.6																			1	Substitution - Missense(1)	p.S192F(1)	prostate(1)								c.(574-576)tCt>tTt		abhydrolase domain containing 17B							161.0	147.0	152.0					9																	74485071		2203	4300	6503	SO:0001583	missense	51104							g.chr9:74485071G>A	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.575C>T	9.37:g.74485071G>A	ENSP00000330222:p.Ser192Phe					ABHD17B_ENST00000377041.2_Missense_Mutation_p.S192F	p.S192F	NM_001025780.1	NP_001020951.1					3	686	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.575C>T	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223843	0.79576	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.51071	0.72;0.72	5.34	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	H	0.99379	4.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.89533	0.3787	10	0.87932	D	0	-12.9451	14.1573	0.65426	0.0722:0.0:0.9278:0.0	.	192;192	Q5VST6;Q5VST6-2	F108B_HUMAN;.	F	192	ENSP00000366240:S192F;ENSP00000330222:S192F	ENSP00000330222:S192F	S	-	2	0	FAM108B1	73674891	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.669000	0.98622	1.395000	0.46643	0.655000	0.94253	TCT		0.408	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		74	225	74	225	---	---	---	---
TBC1D2	55357	broad.mit.edu	37	9	100995790	100995790	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:100995790C>T	ENST00000375064.1	-	4	727	c.689G>A	c.(688-690)gGa>gAa	p.G230E	TBC1D2_ENST00000375066.5_Missense_Mutation_p.G230E|TBC1D2_ENST00000342112.5_Missense_Mutation_p.G12E	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	230					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)	p.G230E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		ATGGCCTGTTCCCTGGGCCTG	0.587																																						ENST00000375066.5																			1	Substitution - Missense(1)	p.G230E(1)	prostate(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(688-690)gGa>gAa		TBC1 domain family, member 2							205.0	186.0	192.0					9																	100995790		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100995790C>T	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.689G>A	9.37:g.100995790C>T	ENSP00000364205:p.Gly230Glu					TBC1D2_ENST00000342112.5_Missense_Mutation_p.G12E|TBC1D2_ENST00000375064.1_Missense_Mutation_p.G230E	p.G230E	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	4	780	-		Myeloproliferative disorder(762;0.0255)	230					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.689G>A		.	.	.	.	.	.	.	.	.	.	C	1.561	-0.536683	0.04082	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.06933	3.53;3.24;3.57	4.78	2.9	0.33743	.	0.228731	0.36303	N	0.002676	T	0.07999	0.0200	L	0.37750	1.13	0.21719	N	0.999574	B;P	0.36990	0.307;0.577	B;B	0.34301	0.037;0.179	T	0.10109	-1.0644	10	0.72032	D	0.01	.	13.4131	0.60954	0.0:0.6885:0.3115:0.0	.	230;230	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	E	230;230;12	ENSP00000364205:G230E;ENSP00000364207:G230E;ENSP00000341567:G12E	ENSP00000341567:G12E	G	-	2	0	TBC1D2	100035611	0.218000	0.23608	0.024000	0.17045	0.229000	0.25112	1.397000	0.34543	0.222000	0.20900	-0.795000	0.03280	GGA		0.587	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421		24	245	24	245	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117852969	117852969	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:117852969G>T	ENST00000350763.4	-	2	740	c.329C>A	c.(328-330)gCc>gAc	p.A110D	TNC_ENST00000542877.1_Missense_Mutation_p.A110D|TNC_ENST00000535648.1_Missense_Mutation_p.A110D|TNC_ENST00000341037.4_Missense_Mutation_p.A110D|TNC_ENST00000537320.1_Missense_Mutation_p.A110D|TNC_ENST00000345230.3_Missense_Mutation_p.A110D|TNC_ENST00000423613.2_Missense_Mutation_p.A110D|TNC_ENST00000340094.3_Missense_Mutation_p.A110D|TNC_ENST00000346706.3_Missense_Mutation_p.A110D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	110					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.A110D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACAGCCACAGGCCCGGCGGGG	0.587																																						ENST00000350763.4																			1	Substitution - Missense(1)	p.A110D(1)	prostate(1)	NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(328-330)gCc>gAc		tenascin C							185.0	195.0	191.0					9																	117852969		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117852969G>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.329C>A	9.37:g.117852969G>T	ENSP00000265131:p.Ala110Asp					TNC_ENST00000346706.3_Missense_Mutation_p.A110D|TNC_ENST00000423613.2_Missense_Mutation_p.A110D|TNC_ENST00000340094.3_Missense_Mutation_p.A110D|TNC_ENST00000542877.1_Missense_Mutation_p.A110D|TNC_ENST00000535648.1_Missense_Mutation_p.A110D|TNC_ENST00000537320.1_Missense_Mutation_p.A110D|TNC_ENST00000341037.4_Missense_Mutation_p.A110D|TNC_ENST00000345230.3_Missense_Mutation_p.A110D	p.A110D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			2	740	-			110					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.329C>A	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	G	35	5.441192	0.96187	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28;1.28	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.54464	0.1860	L	0.41710	1.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.53816	-0.8385	10	0.87932	D	0	.	19.1047	0.93290	0.0:0.0:1.0:0.0	.	110;110	E9PC84;P24821	.;TENA_HUMAN	D	110	ENSP00000344400:A110D;ENSP00000438152:A110D;ENSP00000344555:A110D;ENSP00000345861:A110D;ENSP00000265131:A110D;ENSP00000339553:A110D;ENSP00000411406:A110D;ENSP00000443478:A110D;ENSP00000442242:A110D	ENSP00000344400:A110D	A	-	2	0	TNC	116892790	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	GCC		0.587	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		64	531	64	531	---	---	---	---
NUCB2	4925	broad.mit.edu	37	11	17332484	17332484	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr11:17332484A>C	ENST00000529010.1	+	7	815	c.596A>C	c.(595-597)aAg>aCg	p.K199T	NUCB2_ENST00000323688.6_Missense_Mutation_p.K199T|NUCB2_ENST00000458064.2_Missense_Mutation_p.K199T	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	199						cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.K199T(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATGAAGAAAAGAGAAAAGAA	0.303																																						ENST00000529010.1																			1	Substitution - Missense(1)	p.K199T(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(595-597)aAg>aCg		nucleobindin 2							71.0	73.0	72.0					11																	17332484		1792	4035	5827	SO:0001583	missense	4925					cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	g.chr11:17332484A>C	AF052642	CCDS41623.1	11p15.1	2013-01-10						"""EF-hand domain containing"""	8044	protein-coding gene	gene with protein product		608020				7811391	Standard	NM_005013		Approved	NEFA	uc001mmw.3	P80303		ENST00000529010.1:c.596A>C	11.37:g.17332484A>C	ENSP00000436455:p.Lys199Thr					NUCB2_ENST00000458064.2_Missense_Mutation_p.K199T|NUCB2_ENST00000323688.6_Missense_Mutation_p.K199T	p.K199T	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN			7	815	+			199					A8K642|D3DQX5|Q8NFT5	Missense_Mutation	SNP	ENST00000529010.1	37	c.596A>C	CCDS41623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.441275|4.441275	0.83993|0.83993	.|.	.|.	ENSG00000070081|ENSG00000070081	ENST00000527580|ENST00000323688;ENST00000529010;ENST00000458064	.|T;T;T	.|0.19394	.|2.15;2.15;2.15	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.093142|0.093142	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.44850|0.44850	0.1313|0.1313	M|M	0.62723|0.62723	1.935|1.935	0.54753|0.54753	D|D	0.999989|0.999989	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.74023	.|0.982;0.953;0.953	T|T	0.30416|0.30416	-0.9979|-0.9979	6|10	.|0.54805	.|T	.|0.06	-18.6833|-18.6833	16.3721|16.3721	0.83368|0.83368	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|199;199;199	.|E7EV42;P80303;D3DQX5	.|.;NUCB2_HUMAN;.	N|T	6|199	.|ENSP00000320168:K199T;ENSP00000436455:K199T;ENSP00000408702:K199T	.|ENSP00000320168:K199T	K|K	+|+	3|2	2|0	NUCB2|NUCB2	17289060|17289060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.352000|5.352000	0.66028|0.66028	2.257000|2.257000	0.74773|0.74773	0.533000|0.533000	0.62120|0.62120	AAA|AAG		0.303	NUCB2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387614.2	NM_005013		6	299	6	299	---	---	---	---
TMEM5	10329	broad.mit.edu	37	12	64173824	64173824	+	Silent	SNP	C	C	T	rs200123669		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:64173824C>T	ENST00000261234.6	+	1	242	c.84C>T	c.(82-84)ttC>ttT	p.F28F	RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537373.1_5'Flank	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	28						integral component of plasma membrane (GO:0005887)		p.F28F(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ACCACGTCTTCTTcgggcgcc	0.716													C|||	1	0.000199681	0.0008	0.0	5008	,	,		8951	0.0		0.0	False		,,,				2504	0.0					ENST00000261234.6																			1	Substitution - coding silent(1)	p.F28F(1)	prostate(1)	breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15						c.(82-84)ttC>ttT		transmembrane protein 5		C		1,4401	2.1+/-5.4	0,1,2200	33.0	32.0	32.0		84	-0.9	1.0	12		32	0,8600		0,0,4300	no	coding-synonymous	TMEM5	NM_014254.1		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		28/444	64173824	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	10329					integral to plasma membrane		g.chr12:64173824C>T	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.84C>T	12.37:g.64173824C>T						RP11-415I12.3_ENST00000509615.2_RNA	p.F28F	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	1	242	+		Myeloproliferative disorder(1001;0.0255)	28					A8K017|Q6PKD6	Silent	SNP	ENST00000261234.6	37	c.84C>T	CCDS8966.1																																																																																				0.716	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		3	29	3	29	---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72288542	72288542	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:72288542G>A	ENST00000550746.1	+	8	849	c.785G>A	c.(784-786)aGa>aAa	p.R262K	TBC1D15_ENST00000393309.3_Missense_Mutation_p.R16K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R245K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R253K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	262					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.R262K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACAGTTTGAGAGGCAGCGAT	0.368																																						ENST00000550746.1																			1	Substitution - Missense(1)	p.R262K(1)	prostate(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(784-786)aGa>aAa		TBC1 domain family, member 15							92.0	92.0	92.0					12																	72288542		2203	4298	6501	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72288542G>A	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.785G>A	12.37:g.72288542G>A	ENSP00000448182:p.Arg262Lys					TBC1D15_ENST00000393309.3_Missense_Mutation_p.R16K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R253K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R245K	p.R262K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			8	849	+			262					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.785G>A	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085007	0.94100	.	.	ENSG00000121749	ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.08008	3.4;3.39;3.39;3.14	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.15435	0.0372	L	0.54323	1.7	0.51012	D	0.999903	P;P;P	0.45768	0.835;0.866;0.824	B;P;B	0.48901	0.254;0.594;0.197	T	0.08889	-1.0700	10	0.13470	T	0.59	-15.9039	18.9119	0.92489	0.0:0.0:1.0:0.0	.	253;245;262	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	K	262;146;253;245;16	ENSP00000448182:R262K;ENSP00000318262:R253K;ENSP00000420678:R245K;ENSP00000376986:R16K	ENSP00000318262:R253K	R	+	2	0	TBC1D15	70574809	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.799000	0.99117	2.472000	0.83506	0.580000	0.79431	AGA		0.368	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		5	200	5	200	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32912796	32912796	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr13:32912796A>C	ENST00000380152.3	+	11	4537	c.4304A>C	c.(4303-4305)aAt>aCt	p.N1435T	BRCA2_ENST00000544455.1_Missense_Mutation_p.N1435T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1435	Interaction with POLH.|Required for stimulation of POLH DNA polymerization activity.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.N1435T(3)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTGGGAAAAATATTAGTGTC	0.284			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		3	Substitution - Missense(3)	p.N1435T(3)	prostate(3)	NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(4303-4305)aAt>aCt	Homologous recombination	breast cancer 2, early onset							58.0	70.0	66.0					13																	32912796		2184	4280	6464	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912796A>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4304A>C	13.37:g.32912796A>C	ENSP00000369497:p.Asn1435Thr	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.N1435T	p.N1435T	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4531	+		Lung SC(185;0.0262)	1435					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.4304A>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965784	0.34659	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.76060	-0.99;-0.99	5.95	4.75	0.60458	.	0.246394	0.36034	N	0.002835	T	0.81631	0.4863	M	0.66939	2.045	0.28571	N	0.910629	D	0.58268	0.982	P	0.59825	0.864	T	0.76887	-0.2793	10	0.51188	T	0.08	.	12.2947	0.54838	0.8581:0.1419:0.0:0.0	.	1435	P51587	BRCA2_HUMAN	T	1435	ENSP00000369497:N1435T;ENSP00000439902:N1435T	ENSP00000369497:N1435T	N	+	2	0	BRCA2	31810796	1.000000	0.71417	0.894000	0.35097	0.063000	0.16089	6.179000	0.71974	1.048000	0.40298	0.460000	0.39030	AAT		0.284	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		26	237	26	237	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23866411	23866411	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:23866411C>T	ENST00000356287.3	-	16	2047	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	MYH6_ENST00000405093.3_Missense_Mutation_p.R673H			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	673	Actin-binding.|Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.R673H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATGCAACGCACAAAGTG	0.542																																						ENST00000405093.3																			1	Substitution - Missense(1)	p.R673H(1)	prostate(1)	breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(2017-2019)cGt>cAt		myosin, heavy chain 6, cardiac muscle, alpha							167.0	159.0	161.0					14																	23866411		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866411C>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2018G>A	14.37:g.23866411C>T	ENSP00000348634:p.Arg673His					MYH6_ENST00000356287.3_Missense_Mutation_p.R673H	p.R673H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	17	2088	-	all_cancers(95;2.54e-05)		673			Actin-binding.|Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.2018G>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	27.8	4.865066	0.91511	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.90620	-2.7;-2.7	4.26	4.26	0.50523	Myosin head, motor domain (2);	.	.	.	.	D	0.97813	0.9282	H	0.99825	4.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99705	1.1005	9	0.87932	D	0	.	17.2018	0.86908	0.0:1.0:0.0:0.0	.	673	P13533	MYH6_HUMAN	H	673	ENSP00000386041:R673H;ENSP00000348634:R673H	ENSP00000348634:R673H	R	-	2	0	MYH6	22936251	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.219000	0.78000	2.382000	0.81193	0.650000	0.86243	CGT		0.542	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			7	305	7	305	---	---	---	---
CLEC14A	161198	broad.mit.edu	37	14	38724734	38724734	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:38724734C>A	ENST00000342213.2	-	1	840	c.494G>T	c.(493-495)cGc>cTc	p.R165L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	165	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R165L(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCCGTTGGCGCGCAGGTGGCA	0.682																																						ENST00000342213.2																			1	Substitution - Missense(1)	p.R165L(1)	prostate(1)	breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(493-495)cGc>cTc		C-type lectin domain family 14, member A							44.0	39.0	40.0					14																	38724734		2200	4289	6489	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724734C>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.494G>T	14.37:g.38724734C>A	ENSP00000353013:p.Arg165Leu						p.R165L	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	840	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		165			C-type lectin.		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.494G>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330038	0.60743	.	.	ENSG00000176435	ENST00000342213	T	0.53857	0.6	3.91	2.04	0.26737	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.212421	0.30940	N	0.008579	T	0.31231	0.0790	L	0.38175	1.15	0.33080	D	0.536462	P	0.38565	0.637	B	0.28709	0.093	T	0.42849	-0.9427	10	0.59425	D	0.04	-20.1422	3.3834	0.07262	0.2052:0.5816:0.0:0.2132	.	165	Q86T13	CLC14_HUMAN	L	165	ENSP00000353013:R165L	ENSP00000353013:R165L	R	-	2	0	CLEC14A	37794485	0.893000	0.30496	0.991000	0.47740	0.746000	0.42486	1.259000	0.32956	0.597000	0.29811	0.591000	0.81541	CGC		0.682	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		16	52	16	52	---	---	---	---
ARG2	384	broad.mit.edu	37	14	68113409	68113409	+	Missense_Mutation	SNP	G	G	C	rs199828283		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:68113409G>C	ENST00000261783.3	+	5	751	c.571G>C	c.(571-573)Gca>Cca	p.A191P	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	191					arginine metabolic process (GO:0006525)|cellular nitrogen compound metabolic process (GO:0034641)|nitric oxide biosynthetic process (GO:0006809)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)|urea cycle (GO:0000050)|ureteric bud development (GO:0001657)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	arginase activity (GO:0004053)|metal ion binding (GO:0046872)	p.A191P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TATCTCTTCTGCAAGTATTGT	0.423																																						ENST00000261783.3																			1	Substitution - Missense(1)	p.A191P(1)	prostate(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11						c.(571-573)Gca>Cca		arginase 2	L-Arginine(DB00125)|L-Ornithine(DB00129)						200.0	186.0	191.0					14																	68113409		2203	4300	6503	SO:0001583	missense	384				arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	g.chr14:68113409G>C	D86724	CCDS9785.1	14q24.1	2013-05-01	2013-05-01			ENSG00000081181			664	protein-coding gene	gene with protein product		107830	"""arginase, type II"""			8954792, 8898077	Standard	NM_001172		Approved		uc001xjs.3	P78540		ENST00000261783.3:c.571G>C	14.37:g.68113409G>C	ENSP00000261783:p.Ala191Pro					ARG2_ENST00000556491.1_3'UTR	p.A191P	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN		all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	5	751	+			191					B2R690|Q6FHY8	Missense_Mutation	SNP	ENST00000261783.3	37	c.571G>C	CCDS9785.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326826	0.24080	.	.	ENSG00000081181	ENST00000261783	D	0.84800	-1.9	6.04	3.28	0.37604	Ureohydrolase domain (1);	0.308380	0.40144	N	0.001163	T	0.67449	0.2894	N	0.12569	0.235	0.23568	N	0.997391	B	0.02656	0.0	B	0.01281	0.0	T	0.52343	-0.8588	10	0.27785	T	0.31	.	4.6158	0.12427	0.0:0.5091:0.1552:0.3357	.	191	P78540	ARGI2_HUMAN	P	191	ENSP00000261783:A191P	ENSP00000261783:A191P	A	+	1	0	ARG2	67183162	0.186000	0.23225	0.995000	0.50966	0.948000	0.59901	0.702000	0.25631	0.458000	0.26988	-1.021000	0.02439	GCA		0.423	ARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415190.2	NM_001172		7	239	7	239	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30991347	30991347	+	Missense_Mutation	SNP	G	G	A	rs373025485		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:30991347G>A	ENST00000262519.8	+	14	4926	c.4240G>A	c.(4240-4242)Gcc>Acc	p.A1414T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1414	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A1414T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						accgccccgcgccTACGAGCC	0.687																																						ENST00000262519.8																			1	Substitution - Missense(1)	p.A1414T(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(4240-4242)Gcc>Acc		SET domain containing 1A		G	THR/ALA	0,4390		0,0,2195	21.0	24.0	23.0		4240	-5.1	0.0	16		23	1,8595		0,1,4297	no	missense	SETD1A	NM_014712.1	58	0,1,6492	AA,AG,GG		0.0116,0.0,0.0077	benign	1414/1708	30991347	1,12985	2195	4298	6493	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30991347G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.4240G>A	16.37:g.30991347G>A	ENSP00000262519:p.Ala1414Thr						p.A1414T	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			14	4926	+			1414			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.4240G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	4.241	0.043649	0.08196	0.0	1.16E-4	ENSG00000099381	ENST00000262519	D	0.94046	-3.34	4.06	-5.09	0.02920	.	1.278640	0.05222	N	0.508702	T	0.79741	0.4498	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.72010	-0.4419	10	0.09843	T	0.71	.	2.3248	0.04220	0.1451:0.0969:0.3186:0.4394	.	1414	O15047	SET1A_HUMAN	T	1414	ENSP00000262519:A1414T	ENSP00000262519:A1414T	A	+	1	0	SETD1A	30898848	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.112000	0.10791	-1.406000	0.02045	-0.253000	0.11424	GCC		0.687	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		7	14	7	14	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49669876	49669876	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:49669876G>A	ENST00000561648.1	-	4	3240	c.3187C>T	c.(3187-3189)Ctc>Ttc	p.L1063F	ZNF423_ENST00000562871.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000567169.1_Missense_Mutation_p.L946F|ZNF423_ENST00000535559.1_Missense_Mutation_p.L946F|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000262383.2_Missense_Mutation_p.L1063F|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1003F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1063					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L1063F(3)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CACTTGTAGAGCTTCTGCAGC	0.627																																						ENST00000561648.1																			3	Substitution - Missense(3)	p.L1063F(3)	prostate(3)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3187-3189)Ctc>Ttc		zinc finger protein 423							36.0	34.0	35.0					16																	49669876		2199	4299	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669876G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3187C>T	16.37:g.49669876G>A	ENSP00000455426:p.Leu1063Phe					ZNF423_ENST00000535559.1_Missense_Mutation_p.L946F|ZNF423_ENST00000567169.1_Missense_Mutation_p.L946F|ZNF423_ENST00000262383.2_Missense_Mutation_p.L1063F|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000562871.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1003F	p.L1063F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	3240	-		all_cancers(37;0.0155)	1063					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3187C>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011931	0.35511	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.10860	2.83;2.89	5.1	5.1	0.69264	.	0.129173	0.52532	D	0.000062	T	0.07773	0.0195	N	0.19112	0.55	0.39982	D	0.974931	B	0.10296	0.003	B	0.15052	0.012	T	0.31998	-0.9923	9	.	.	.	-33.2386	13.5039	0.61474	0.0:0.0:0.844:0.156	.	1063	Q2M1K9	ZN423_HUMAN	F	1063;946	ENSP00000262383:L1063F;ENSP00000442321:L946F	.	L	-	1	0	ZNF423	48227377	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.381000	0.52455	2.390000	0.81377	0.561000	0.74099	CTC		0.627	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		3	28	3	28	---	---	---	---
PHLPP2	23035	broad.mit.edu	37	16	71718485	71718485	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:71718485C>A	ENST00000568954.1	-	5	1007	c.629G>T	c.(628-630)cGg>cTg	p.R210L	PHLPP2_ENST00000360429.3_Missense_Mutation_p.R210L|PHLPP2_ENST00000393524.2_Missense_Mutation_p.R210L|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R210L|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R245L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	210	PH.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.R210L(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGAGTATTGCCGTCGCTTCAC	0.473																																						ENST00000393524.2																			1	Substitution - Missense(1)	p.R210L(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(628-630)cGg>cTg		PH domain and leucine rich repeat protein phosphatase 2							56.0	54.0	54.0					16																	71718485		2198	4300	6498	SO:0001583	missense	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71718485C>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.629G>T	16.37:g.71718485C>A	ENSP00000457991:p.Arg210Leu					PHLPP2_ENST00000360429.3_Missense_Mutation_p.R210L|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R210L|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R210L|PHLPP2_ENST00000567016.1_Missense_Mutation_p.R245L	p.R210L			Q6ZVD8	PHLP2_HUMAN			4	1362	-			210			PH.		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	ENST00000568954.1	37	c.629G>T	CCDS32479.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.478450	0.84747	.	.	ENSG00000040199	ENST00000299971;ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.36157	1.27;1.27;1.27	4.82	4.82	0.62117	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.55784	0.1942	L	0.54323	1.7	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.53535	-0.8425	10	0.40728	T	0.16	-13.4761	17.2613	0.87070	0.0:1.0:0.0:0.0	.	210;210	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	L	17;210;210;210;210	ENSP00000353610:R210L;ENSP00000348611:R210L;ENSP00000377159:R210L	ENSP00000299971:R17L	R	-	2	0	PHLPP2	70275986	0.407000	0.25352	0.996000	0.52242	0.995000	0.86356	2.588000	0.46137	2.357000	0.79964	0.561000	0.74099	CGG		0.473	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		3	76	3	76	---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2210728	2210728	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:2210728C>T	ENST00000398665.3	+	14	1261	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	409	Required for interaction with nucleosomes and DNA.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.R409C(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGGCTGGCCGCAAGCGCGG	0.602																																						ENST00000398665.3																			1	Substitution - Missense(1)	p.R409C(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.(1225-1227)Cgc>Tgc		DOT1-like histone H3K79 methyltransferase							66.0	79.0	75.0					19																	2210728		1964	4144	6108	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2210728C>T	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1225C>T	19.37:g.2210728C>T	ENSP00000381657:p.Arg409Cys						p.R409C	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1261	+		Hepatocellular(1079;0.137)	409			Required for interaction with nucleosomes and DNA.		O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.1225C>T	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021213	0.75275	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.31510	1.49	4.84	3.77	0.43336	.	0.058386	0.64402	D	0.000003	T	0.50650	0.1628	M	0.68952	2.095	0.45594	D	0.998539	D	0.89917	1.0	D	0.80764	0.994	T	0.54193	-0.8330	10	0.87932	D	0	-25.575	11.6214	0.51119	0.2509:0.7491:0.0:0.0	.	409	Q8TEK3-2	.	C	409	ENSP00000381657:R409C	ENSP00000221482:R409C	R	+	1	0	DOT1L	2161728	1.000000	0.71417	0.982000	0.44146	0.801000	0.45260	3.079000	0.50104	2.222000	0.72286	0.561000	0.74099	CGC		0.602	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		9	129	9	129	---	---	---	---
CDC45	8318	broad.mit.edu	37	22	19467485	19467485	+	De_novo_Start_InFrame	SNP	C	C	A	rs535099250		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr22:19467485C>A	ENST00000407835.1	+	0	250				CDC45_ENST00000437685.2_De_novo_Start_InFrame|UFD1L_ENST00000484101.1_5'Flank|UFD1L_ENST00000263202.10_5'Flank|UFD1L_ENST00000399523.1_5'Flank|UFD1L_ENST00000360834.4_5'Flank|CDC45_ENST00000263201.1_De_novo_Start_InFrame|CDC45_ENST00000404724.3_De_novo_Start_InFrame|CDC45_ENST00000483431.1_3'UTR			O75419	CDC45_HUMAN	cell division cycle 45						DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTCCGGCCGCCGTGGCTATGT	0.672																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19								cell division cycle 45							35.0	42.0	40.0					22																	19467485		2197	4290	6487			8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19467485C>A	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386		22.37:g.19467485C>A						CDC45_ENST00000404724.3_De_novo_Start_InFrame|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_De_novo_Start_InFrame|CDC45_ENST00000437685.2_De_novo_Start_InFrame				O75419	CDC45_HUMAN			0	250	+								B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Translation_Start_Site	SNP	ENST00000407835.1	37		CCDS13762.1																																																																																				0.672	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		6	68	6	68	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180381743	180381743	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:180381743delA	ENST00000442201.2	-	2	241	c.122delT	c.(121-123)ttgfs	p.L41fs	CCDC39_ENST00000273654.4_Frame_Shift_Del_p.L125fs	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	41					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTCATCTTGCAAGCTTGCTCT	0.338																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(373-375)ttgfs		coiled-coil domain containing 39							144.0	134.0	137.0					3																	180381743		1839	4108	5947	SO:0001589	frameshift_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180381743delA	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.122delT	3.37:g.180381743delA	ENSP00000405708:p.Leu41fs					CCDC39_ENST00000442201.2_Frame_Shift_Del_p.L41fs	p.L125fs			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		8	993	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		41					B4E2H1	Frame_Shift_Del	DEL	ENST00000442201.2	37	c.374delT	CCDS46964.1																																																																																				0.338	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		35	141	35	141	---	---	---	---
