#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
BBS2	583	broad.mit.edu	37	16	56539933	56539933	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr16:56539933T>C	ENST00000245157.5	-	7	1153	c.733A>G	c.(733-735)Atg>Gtg	p.M245V	BBS2_ENST00000568104.1_Missense_Mutation_p.M245V|BBS2_ENST00000561951.1_5'UTR	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	245					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGAATGCTCATGGCATGATTT	0.343									Bardet-Biedl syndrome																													uc002ejd.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(733-735)Atg>Gtg		Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.							87.0	86.0	86.0					16																	56539933		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56539933T>C	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.733A>G	16.37:g.56539933T>C	ENSP00000245157:p.Met245Val		Somatic				BBS2_uc010ccg.2_Missense_Mutation_p.M245V	p.M245V	NM_031885	NP_114091	WXS	Illumina GAIIx	Phase_I	Q9BXC9	BBS2_HUMAN			6	967	-			245					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.733A>G	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	T	0.154	-1.088251	0.01873	.	.	ENSG00000125124	ENST00000245157	D	0.83992	-1.79	5.7	2.22	0.28083	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.068649	0.85682	N	0.000000	T	0.56978	0.2022	N	0.03294	-0.36	0.51233	D	0.999916	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.52480	-0.8570	10	0.02654	T	1	-8.716	9.591	0.39545	0.0:0.2024:0.0:0.7976	.	245;245	A8K0N9;Q9BXC9	.;BBS2_HUMAN	V	245	ENSP00000245157:M245V	ENSP00000245157:M245V	M	-	1	0	BBS2	55097434	0.996000	0.38824	1.000000	0.80357	0.590000	0.36582	2.063000	0.41423	0.452000	0.26830	-0.250000	0.11733	ATG		0.343	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		4	76	0	0	0	1	0	4	76				
MAT1A	4143	broad.mit.edu	37	10	82036179	82036179	+	Missense_Mutation	SNP	C	C	T	rs147356286		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr10:82036179C>T	ENST00000372213.3	-	6	981	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	MAT1A_ENST00000485270.1_5'Flank	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	241					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGGTGGTAGACGGTGTCTTCG	0.592																																						uc001kbw.3																			0				endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(721-723)Gtc>Atc		Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	111.0	99.0	103.0		721	-0.4	0.8	10	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MAT1A	NM_000429.2	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	241/396	82036179	3,13003	2203	4300	6503	SO:0001583	missense	4143				S-adenosylmethionine biosynthetic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	g.chr10:82036179C>T		CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"""S-adenosylmethionine synthetase"""	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.721G>A	10.37:g.82036179C>T	ENSP00000361287:p.Val241Ile		Somatic					p.V241I	NM_000429	NP_000420	WXS	Illumina GAIIx	Phase_I	Q00266	METK1_HUMAN	Colorectal(32;0.229)		5	976	-			241					D3DWD5|Q5QP09	Missense_Mutation	SNP	ENST00000372213.3	37	c.721G>A	CCDS7365.1	.	.	.	.	.	.	.	.	.	.	C	3.624	-0.076890	0.07184	2.27E-4	2.33E-4	ENSG00000151224	ENST00000372213;ENST00000372206	D	0.82255	-1.59	4.84	-0.375	0.12509	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.515439	0.23558	N	0.046898	T	0.53254	0.1785	N	0.02658	-0.545	0.42388	D	0.99251	B	0.02656	0.0	B	0.04013	0.001	T	0.48490	-0.9031	10	0.05833	T	0.94	-9.6283	8.9585	0.35832	0.0:0.4239:0.0:0.5761	.	241	Q00266	METK1_HUMAN	I	241	ENSP00000361287:V241I	ENSP00000361280:V241I	V	-	1	0	MAT1A	82026159	0.425000	0.25498	0.816000	0.32577	0.860000	0.49131	-0.036000	0.12185	-0.148000	0.11234	-0.294000	0.09567	GTC		0.592	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049070.1	NM_000429		7	131	0	0	0	1	0	7	131				
TBX5	6910	broad.mit.edu	37	12	114793765	114793765	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr12:114793765C>T	ENST00000310346.4	-	9	1795	c.1129G>A	c.(1129-1131)Gct>Act	p.A377T	TBX5_ENST00000349716.5_Missense_Mutation_p.A327T|TBX5_ENST00000405440.2_Missense_Mutation_p.A377T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	377					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TACATGCAAGCTTGCCGCTGT	0.602																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1129-1131)Gct>Act		Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.							92.0	80.0	84.0					12																	114793765		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114793765C>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.1129G>A	12.37:g.114793765C>T	ENSP00000309913:p.Ala377Thr		Somatic				TBX5_uc001tvp.3_Missense_Mutation_p.A377T|TBX5_uc001tvq.3_Missense_Mutation_p.A327T	p.A377T	NM_181486	NP_542448	WXS	Illumina GAIIx	Phase_I	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	8	1624	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		377					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.1129G>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	C	33	5.219195	0.95104	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440	T;T;T	0.49720	0.77;0.77;0.77	5.27	5.27	0.74061	.	0.109140	0.64402	D	0.000007	T	0.71384	0.3333	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72083	-0.4397	10	0.41790	T	0.15	.	18.8889	0.92391	0.0:1.0:0.0:0.0	.	377	Q99593	TBX5_HUMAN	T	327;377;274;377	ENSP00000337723:A327T;ENSP00000309913:A377T;ENSP00000384152:A377T	ENSP00000309913:A377T	A	-	1	0	TBX5	113278148	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.463000	0.83235	0.655000	0.94253	GCT		0.602	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		62	89	0	0	0	1	0	62	89				
LAMA4	3910	broad.mit.edu	37	6	112462655	112462655	+	Silent	SNP	G	G	A	rs530825191		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr6:112462655G>A	ENST00000230538.7	-	21	3115	c.2718C>T	c.(2716-2718)taC>taT	p.Y906Y	LAMA4_ENST00000389463.4_Silent_p.Y899Y|LAMA4_ENST00000424408.2_Silent_p.Y899Y|LAMA4_ENST00000522006.1_Silent_p.Y899Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	906	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AATTATAGACGTATACCAGAT	0.368																																						uc003pvu.2																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2716-2718)taC>taT		Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.							101.0	102.0	102.0					6																	112462655		2203	4300	6503	SO:0001819	synonymous_variant	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112462655G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2718C>T	6.37:g.112462655G>A			Somatic				LAMA4_uc003pvv.2_Silent_p.Y899Y|LAMA4_uc003pvt.2_Silent_p.Y899Y	p.Y906Y	NM_001105206	NP_001098676	WXS	Illumina GAIIx	Phase_I	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	20	3027	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	906			Laminin G-like 1.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	c.2718C>T	CCDS43491.1																																																																																				0.368	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		26	62	0	0	0	1	0	26	62				
DSC2	1824	broad.mit.edu	37	18	28662246	28662246	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr18:28662246T>C	ENST00000280904.6	-	9	1664	c.1221A>G	c.(1219-1221)gtA>gtG	p.V407V	DSC2_ENST00000251081.6_Silent_p.V407V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	407	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGGCATCTGTTACAATTTTAA	0.308																																						uc002kwl.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1219-1221)gtA>gtG		Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.							88.0	91.0	90.0					18																	28662246		2202	4295	6497	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28662246T>C	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1221A>G	18.37:g.28662246T>C			Somatic				DSC2_uc002kwk.4_Silent_p.V407V	p.V407V	NM_024422	NP_077740	WXS	Illumina GAIIx	Phase_I	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		8	1675	-			407			Cadherin 3.			Silent	SNP	ENST00000280904.6	37	c.1221A>G	CCDS11892.1																																																																																				0.308	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949		3	98	0	0	0	1	0	3	98				
MAPRE2	10982	broad.mit.edu	37	18	32677460	32677460	+	Silent	SNP	T	T	C			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr18:32677460T>C	ENST00000300249.5	+	3	481	c.301T>C	c.(301-303)Ttg>Ctg	p.L101L	MAPRE2_ENST00000436190.2_Silent_p.L89L|MAPRE2_ENST00000589699.1_Silent_p.L58L|MAPRE2_ENST00000588910.1_Silent_p.L101L|MAPRE2_ENST00000538170.2_Silent_p.L48L|MAPRE2_ENST00000413393.1_Silent_p.L58L	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	101	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CTGCATTAGTTTGAAGAAAGT	0.403																																						uc002kyg.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(301-303)Ttg>Ctg		Homo sapiens microtubule-associated protein, RP/EB family, member 2 (MAPRE2), transcript variant 1, mRNA.							99.0	93.0	95.0					18																	32677460		2203	4300	6503	SO:0001819	synonymous_variant	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32677460T>C	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.301T>C	18.37:g.32677460T>C			Somatic				MAPRE2_uc010xcb.2_Silent_p.L58L|MAPRE2_uc010xcc.2_Silent_p.L89L|MAPRE2_uc002kyf.2_Silent_p.L101L|MAPRE2_uc002kyh.3_Silent_p.L48L|MAPRE2_uc010xcd.2_Silent_p.L58L	p.L101L	NM_014268	NP_001137298	WXS	Illumina GAIIx	Phase_I	Q15555	MARE2_HUMAN			2	481	+			101			CH.		B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Silent	SNP	ENST00000300249.5	37	c.301T>C	CCDS11910.1																																																																																				0.403	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2	NM_014268		3	92	0	0	0	1	0	3	92				
PC	5091	broad.mit.edu	37	11	66638642	66638642	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr11:66638642C>T	ENST00000393958.2	-	6	607	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	PC_ENST00000355677.3_Missense_Mutation_p.A172T|PC_ENST00000393955.2_Missense_Mutation_p.A172T|PC_ENST00000524491.1_Missense_Mutation_p.A132T|PC_ENST00000393960.1_Missense_Mutation_p.A172T	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	172	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTGATGGGGGCATCTGTGCCA	0.622																																						uc001ojo.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(514-516)Gcc>Acc		Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	Biotin(DB00121)|Pyruvic acid(DB00119)						122.0	125.0	124.0					11																	66638642		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66638642C>T	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.514G>A	11.37:g.66638642C>T	ENSP00000377530:p.Ala172Thr		Somatic				PC_uc001ojp.1_Missense_Mutation_p.A172T|PC_uc001ojn.1_Missense_Mutation_p.A172T	p.A172T	NM_001040716	NP_071504	WXS	Illumina GAIIx	Phase_I	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	6	796	-		Melanoma(852;0.0525)	172			ATP-grasp.|Biotin carboxylation.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.514G>A	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611298	0.46631	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53;-4.53	5.35	0.917	0.19380	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.280748	0.33610	N	0.004721	D	0.91472	0.7308	N	0.13272	0.32	0.25049	N	0.991147	B	0.06786	0.001	B	0.11329	0.006	D	0.84620	0.0683	10	0.51188	T	0.08	-22.3962	3.8827	0.09085	0.407:0.3854:0.126:0.0816	.	172	P11498	PYC_HUMAN	T	172;172;172;132;172	ENSP00000377527:A172T;ENSP00000377530:A172T;ENSP00000377532:A172T;ENSP00000434192:A132T;ENSP00000347900:A172T	ENSP00000347900:A172T	A	-	1	0	PC	66395218	0.018000	0.18449	0.594000	0.28785	0.755000	0.42902	0.226000	0.17776	0.566000	0.29273	0.655000	0.94253	GCC		0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		12	130	0	0	0	1	0	12	130				
FBN2	2201	broad.mit.edu	37	5	127637170	127637170	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr5:127637170C>T	ENST00000508053.1	-	53	6924	c.5950G>A	c.(5950-5952)Gtg>Atg	p.V1984M	FBN2_ENST00000262464.4_Missense_Mutation_p.V1984M			P35556	FBN2_HUMAN	fibrillin 2	1984	EGF-like 33; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTTCTGCACACCTGACCAAAA	0.368																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(5950-5952)Gtg>Atg		Homo sapiens fibrillin 2 (FBN2), mRNA.							141.0	140.0	140.0					5																	127637170		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127637170C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5950G>A	5.37:g.127637170C>T	ENSP00000424571:p.Val1984Met		Somatic					p.V1984M	NM_001999	NP_001990	WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	46	6389	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1984			EGF-like 33; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5950G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955472	0.73902	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.92199	-2.99;-2.99	5.53	4.65	0.58169	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.56097	D	0.000031	D	0.88020	0.6325	L	0.28054	0.825	0.45250	D	0.99825	P	0.43750	0.816	B	0.43809	0.432	D	0.87862	0.2665	10	0.44086	T	0.13	.	14.9671	0.71201	0.0:0.9305:0.0:0.0695	.	1984	P35556	FBN2_HUMAN	M	1984	ENSP00000262464:V1984M;ENSP00000424571:V1984M	ENSP00000262464:V1984M	V	-	1	0	FBN2	127665069	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.308000	0.59129	2.879000	0.98667	0.650000	0.86243	GTG		0.368	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		6	134	0	0	0	1	0	6	134				
DHX8	1659	broad.mit.edu	37	17	41570183	41570183	+	Missense_Mutation	SNP	G	G	T	rs559076556		TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr17:41570183G>T	ENST00000262415.3	+	6	710	c.638G>T	c.(637-639)cGg>cTg	p.R213L	DHX8_ENST00000540306.1_Missense_Mutation_p.R213L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	213	Arg/Ser-rich (RS domain).				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCCAGGACCCGGGAGAGGAAT	0.547																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(637-639)cGg>cTg		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.							135.0	142.0	140.0					17																	41570183		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding	g.chr17:41570183G>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.638G>T	17.37:g.41570183G>T	ENSP00000262415:p.Arg213Leu		Somatic				DHX8_uc010wif.1_Missense_Mutation_p.R122L|DHX8_uc010wig.2_Missense_Mutation_p.R213L	p.R213L	NM_004941	NP_004932	WXS	Illumina GAIIx	Phase_I	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	5	710	+		Breast(137;0.00908)	213			Arg/Ser-rich (RS domain).			Missense_Mutation	SNP	ENST00000262415.3	37	c.638G>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	9.042	0.990002	0.18966	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.61859	0.07;0.07	5.28	2.25	0.28309	.	0.062515	0.64402	D	0.000012	T	0.45377	0.1339	L	0.43923	1.385	0.40007	D	0.975231	B;B	0.19200	0.034;0.02	B;B	0.22753	0.041;0.012	T	0.25502	-1.0130	10	0.32370	T	0.25	.	8.0555	0.30602	0.3097:0.0:0.6903:0.0	.	213;213	F5H658;Q14562	.;DHX8_HUMAN	L	213	ENSP00000437886:R213L;ENSP00000262415:R213L	ENSP00000262415:R213L	R	+	2	0	DHX8	38925709	1.000000	0.71417	0.985000	0.45067	0.015000	0.08874	3.431000	0.52814	0.247000	0.21414	-0.768000	0.03414	CGG		0.547	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			55	161	0	0	0	1	0	55	161				
HS3ST2	9956	broad.mit.edu	37	16	22926609	22926609	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr16:22926609T>A	ENST00000261374.3	+	2	1264	c.830T>A	c.(829-831)cTc>cAc	p.L277H		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	277					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)	p.L277H(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGCGAGCGACTCATCACTGAC	0.557																																						uc002dli.3																			1	Substitution - Missense(1)	p.L277H(2)	kidney(1)	breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19						c.(829-831)cTc>cAc		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.							102.0	100.0	101.0					16																	22926609		2197	4300	6497	SO:0001583	missense	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926609T>A	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.830T>A	16.37:g.22926609T>A	ENSP00000261374:p.Leu277His		Somatic					p.L277H	NM_006043	NP_006034	WXS	Illumina GAIIx	Phase_I	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	1	902	+			277					Q52LZ1	Missense_Mutation	SNP	ENST00000261374.3	37	c.830T>A	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579601	0.86645	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	T	0.65178	-0.14	5.21	5.21	0.72293	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86335	0.1701	10	0.87932	D	0	.	14.2988	0.66331	0.0:0.0:0.0:1.0	.	277	Q9Y278	HS3S2_HUMAN	H	277;285	ENSP00000261374:L277H	ENSP00000261374:L277H	L	+	2	0	HS3ST2	22834110	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.040000	0.89188	1.972000	0.57404	0.459000	0.35465	CTC		0.557	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		8	218	0	0	0	1	0	8	218				
SRPK2	6733	broad.mit.edu	37	7	104786953	104786953	+	Silent	SNP	A	A	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr7:104786953A>T	ENST00000393651.3	-	8	861	c.774T>A	c.(772-774)ccT>ccA	p.P258P	SRPK2_ENST00000489828.1_Silent_p.P247P|SRPK2_ENST00000357311.3_Silent_p.P247P	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CAGACCCTGAAGGAGGAGGAG	0.498																																						uc003vcv.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						c.(772-774)ccT>ccA		Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 1, mRNA.							89.0	70.0	77.0					7																	104786953		2203	4300	6503	SO:0001819	synonymous_variant	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104786953A>T	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.774T>A	7.37:g.104786953A>T			Somatic				SRPK2_uc003vct.3_Silent_p.P247P|SRPK2_uc003vcu.3_Silent_p.P247P|SRPK2_uc003vcw.1_Silent_p.P247P	p.P258P	NM_182692	NP_872634	WXS	Illumina GAIIx	Phase_I	P78362	SRPK2_HUMAN			7	862	-			247			Protein kinase.			Silent	SNP	ENST00000393651.3	37	c.774T>A	CCDS34724.1																																																																																				0.498	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		8	44	0	0	0	1	0	8	44				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)	Somatic					p.Q61R	NM_002524	NP_002515	WXS	Illumina GAIIx	Phase_I	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		102	150	0	0	0	1	0	102	150				
PROC	5624	broad.mit.edu	37	2	128186036	128186036	+	Missense_Mutation	SNP	C	C	G	rs112356403	byFrequency	TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr2:128186036C>G	ENST00000234071.3	+	9	987	c.900C>G	c.(898-900)atC>atG	p.I300M	PROC_ENST00000409048.1_Missense_Mutation_p.I334M|PROC_ENST00000453608.2_Missense_Mutation_p.I355M|PROC_ENST00000422777.3_Missense_Mutation_p.I300M	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	300	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACAATGACATCGCACTGCTGC	0.632																																						uc010yzi.2																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15						c.(1066-1068)atC>atG		Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)						119.0	96.0	104.0					2																	128186036		2203	4300	6503	SO:0001583	missense	5624				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity	g.chr2:128186036C>G	X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.900C>G	2.37:g.128186036C>G	ENSP00000234071:p.Ile300Met		Somatic				PROC_uc002tok.3_Missense_Mutation_p.I300M|PROC_uc002tol.3_Missense_Mutation_p.I321M|PROC_uc010yzj.2_Missense_Mutation_p.I195M|PROC_uc010yzk.2_Missense_Mutation_p.I355M	p.I356M			WXS	Illumina GAIIx	Phase_I	P04070	PROC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0673)	7	1095	+	Colorectal(110;0.1)		300			Peptidase S1.		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	c.1068C>G	CCDS2145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.37|14.37	2.514781|2.514781	0.44763|0.44763	.|.	.|.	ENSG00000115718|ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777|ENST00000402125	D;D;D;D|.	0.95821|.	-3.82;-3.82;-3.82;-3.82|.	5.55|5.55	-1.34|-1.34	0.09143|0.09143	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.44688|.	D|.	0.000421|.	T|T	0.76054|0.76054	0.3934|0.3934	M|M	0.91717|0.91717	3.235|3.235	0.49130|0.49130	D|D	0.999753|0.999753	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;0.996;1.0|.	T|T	0.76299|0.76299	-0.3010|-0.3010	10|5	0.87932|.	D|.	0|.	.|.	8.6615|8.6615	0.34095|0.34095	0.0954:0.4654:0.0:0.4392|0.0954:0.4654:0.0:0.4392	.|.	355;356;334;300|.	B4DPQ7;B4DPQ3;E7END6;P04070|.	.;.;.;PROC_HUMAN|.	M|W	300;259;355;334;300|75	ENSP00000234071:I300M;ENSP00000404030:I355M;ENSP00000386679:I334M;ENSP00000409543:I300M|.	ENSP00000234071:I300M|.	I|S	+|+	3|2	3|0	PROC|PROC	127902506|127902506	0.001000|0.001000	0.12720|0.12720	0.963000|0.963000	0.40424|0.40424	0.489000|0.489000	0.33432|0.33432	-1.407000|-1.407000	0.02488|0.02488	-0.165000|-0.165000	0.10908|0.10908	-0.258000|-0.258000	0.10820|0.10820	ATC|TCG		0.632	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2	NM_000312		3	103	0	0	0	1	0	3	103				
ZRANB3	84083	broad.mit.edu	37	2	136026599	136026599	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr2:136026599A>G	ENST00000264159.6	-	11	1435	c.1319T>C	c.(1318-1320)gTg>gCg	p.V440A	ZRANB3_ENST00000401392.1_Missense_Mutation_p.V440A|ZRANB3_ENST00000536680.1_Missense_Mutation_p.V440A	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	440	DNA annealing helicase activity.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTGAATATTCACAGAACTGCA	0.423																																						uc002tum.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(1318-1320)gTg>gCg		Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.							196.0	187.0	190.0					2																	136026599		1852	4096	5948	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136026599A>G	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1319T>C	2.37:g.136026599A>G	ENSP00000264159:p.Val440Ala		Somatic				ZRANB3_uc002tuk.3_5'UTR|ZRANB3_uc002tul.3_Missense_Mutation_p.V440A|ZRANB3_uc002tun.1_3'UTR	p.V440A	NM_032143	NP_115519	WXS	Illumina GAIIx	Phase_I	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	10	1436	-			440			Helicase C-terminal.		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.1319T>C	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.873374	0.91664	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.94966	-3.57;-3.57;-3.57	5.55	5.55	0.83447	Helicase, C-terminal (1);	0.057203	0.64402	D	0.000002	D	0.98201	0.9405	H	0.97131	3.945	0.80722	D	1	D;D	0.71674	0.993;0.998	P;D	0.70016	0.853;0.967	D	0.99636	1.0987	10	0.87932	D	0	-14.4179	15.9962	0.80250	1.0:0.0:0.0:0.0	.	440;440	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	A	440	ENSP00000383979:V440A;ENSP00000264159:V440A;ENSP00000441320:V440A	ENSP00000264159:V440A	V	-	2	0	ZRANB3	135743069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.230000	0.95299	2.234000	0.73211	0.533000	0.62120	GTG		0.423	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		8	194	0	0	0	1	0	8	194				
DNAH10	196385	broad.mit.edu	37	12	124408831	124408831	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr12:124408831T>C	ENST00000409039.3	+	66	11289	c.11264T>C	c.(11263-11265)aTt>aCt	p.I3755T	CCDC92_ENST00000544798.1_5'UTR|RP11-380L11.4_ENST00000602952.1_RNA	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3755					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTAGGAAACATTTCCCTGGAG	0.413																																						uc001uft.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(11263-11265)aTt>aCt		Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.							63.0	63.0	63.0					12																	124408831		1855	4116	5971	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124408831T>C	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.11264T>C	12.37:g.124408831T>C	ENSP00000386770:p.Ile3755Thr		Somatic				DNAH10_uc001ufu.4_5'Flank	p.I3755T	NM_207437	NP_997320	WXS	Illumina GAIIx	Phase_I	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	65	11289	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3755					C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.11264T>C	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891959	0.33442	.	.	ENSG00000197653	ENST00000409039	D	0.86097	-2.07	4.96	4.96	0.65561	.	0.220799	0.39146	N	0.001443	T	0.81064	0.4745	L	0.48174	1.505	0.80722	D	1	B	0.15930	0.015	B	0.14023	0.01	T	0.76664	-0.2876	10	0.35671	T	0.21	.	14.6352	0.68682	0.0:0.0:0.0:1.0	.	3755	Q8IVF4	DYH10_HUMAN	T	3755	ENSP00000386770:I3755T	ENSP00000386770:I3755T	I	+	2	0	DNAH10	122974784	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	7.676000	0.84012	1.840000	0.53500	0.459000	0.35465	ATT		0.413	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			5	11	0	0	0	1	0	5	11				
SLC25A24	29957	broad.mit.edu	37	1	108697672	108697672	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr1:108697672C>A	ENST00000565488.1	-	6	974	c.755G>T	c.(754-756)aGg>aTg	p.R252M	SLC25A24_ENST00000370041.4_Missense_Mutation_p.R233M	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	252					ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		ACCATTTCCCCTCCAAAGCGA	0.388																																						uc001dvn.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(754-756)aGg>aTg		Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							125.0	117.0	119.0					1																	108697672		2203	4300	6503	SO:0001583	missense	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108697672C>A	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.755G>T	1.37:g.108697672C>A	ENSP00000457733:p.Arg252Met		Somatic				SLC25A24_uc001dvm.3_Missense_Mutation_p.R233M	p.R252M	NM_013386	NP_037518	WXS	Illumina GAIIx	Phase_I	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	5	969	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	252					B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Missense_Mutation	SNP	ENST00000565488.1	37	c.755G>T	CCDS41361.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.340783	0.81911	.	.	ENSG00000085491	ENST00000264128;ENST00000370041	D	0.82255	-1.59	5.4	5.4	0.78164	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79108	0.992;0.955	D	0.96308	0.9226	10	0.87932	D	0	-26.4634	18.1686	0.89737	0.0:1.0:0.0:0.0	.	252;233	Q6NUK1;Q6NUK1-2	SCMC1_HUMAN;.	M	252;233	ENSP00000359058:R233M	ENSP00000264128:R252M	R	-	2	0	SLC25A24	108499195	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	7.747000	0.85070	2.522000	0.85027	0.484000	0.47621	AGG		0.388	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	NM_013386		4	123	0	0	0	1	0	4	123				
ATF6	22926	broad.mit.edu	37	1	161816351	161816351	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr1:161816351A>T	ENST00000367942.3	+	10	1367	c.1300A>T	c.(1300-1302)Atc>Ttc	p.I434F	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	434					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	AGATGGTATTATCCAGAAAAA	0.413																																						uc001gbs.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34						c.(1300-1302)Atc>Ttc		Homo sapiens activating transcription factor 6 (ATF6), mRNA.							120.0	112.0	115.0					1																	161816351		2203	4300	6503	SO:0001583	missense	22926				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:161816351A>T	AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1300A>T	1.37:g.161816351A>T	ENSP00000356919:p.Ile434Phe		Somatic				ATF6_uc001gbq.2_Missense_Mutation_p.I434F	p.I434F	NM_007348	NP_031374	WXS	Illumina GAIIx	Phase_I	P18850	ATF6A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00953)		9	1417	+	all_hematologic(112;0.156)		434					O15139|Q5VW62|Q6IPB5|Q9UEC9	Missense_Mutation	SNP	ENST00000367942.3	37	c.1300A>T	CCDS1235.1	.	.	.	.	.	.	.	.	.	.	A	10.95	1.496840	0.26861	.	.	ENSG00000118217	ENST00000367942	T	0.14516	2.5	5.1	2.76	0.32466	.	0.606272	0.18578	N	0.137127	T	0.03348	0.0097	L	0.29908	0.895	0.30575	N	0.763061	B;B	0.23735	0.068;0.09	B;B	0.23150	0.044;0.04	T	0.29150	-1.0021	9	0.51188	T	0.08	-9.5825	6.3035	0.21125	0.8031:0.0:0.1969:0.0	.	434;435	P18850;Q59H30	ATF6A_HUMAN;.	F	434	ENSP00000356919:I434F	ENSP00000356919:I434F	I	+	1	0	ATF6	160082975	0.985000	0.35326	0.976000	0.42696	0.477000	0.33069	1.639000	0.37176	0.875000	0.35847	0.443000	0.29094	ATC		0.413	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060304.2	NM_007348		4	102	0	0	0	1	0	4	102				
AMOTL1	154810	broad.mit.edu	37	11	94592844	94592844	+	Missense_Mutation	SNP	T	T	G			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr11:94592844T>G	ENST00000433060.2	+	9	2240	c.2099T>G	c.(2098-2100)tTt>tGt	p.F700C	AMOTL1_ENST00000317829.8_Missense_Mutation_p.F650C|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	700					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATCCGACACTTTGCCATGAAT	0.522																																						uc001pfb.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(2098-2100)tTt>tGt		Homo sapiens angiomotin like 1 (AMOTL1), mRNA.							30.0	35.0	33.0					11																	94592844		2197	4298	6495	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94592844T>G	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2099T>G	11.37:g.94592844T>G	ENSP00000387739:p.Phe700Cys		Somatic				AMOTL1_uc001pfc.3_Missense_Mutation_p.F650C	p.F700C	NM_130847	NP_570899	WXS	Illumina GAIIx	Phase_I	Q8IY63	AMOL1_HUMAN			8	2269	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	700					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.2099T>G	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	T	18.09	3.546648	0.65198	.	.	ENSG00000166025	ENST00000317829;ENST00000433060	T;T	0.22539	1.97;1.95	6.08	6.08	0.98989	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.62266	1.93	0.80722	D	1	D;D	0.55605	0.972;0.971	D;D	0.67548	0.943;0.952	T	0.25572	-1.0128	10	0.56958	D	0.05	-20.5464	16.6438	0.85155	0.0:0.0:0.0:1.0	.	650;700	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	C	650;700	ENSP00000320968:F650C;ENSP00000387739:F700C	ENSP00000320968:F650C	F	+	2	0	AMOTL1	94232492	1.000000	0.71417	0.974000	0.42286	0.146000	0.21551	7.815000	0.86186	2.333000	0.79357	0.533000	0.62120	TTT		0.522	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		3	21	0	0	0	1	0	3	21				
LPP	4026	broad.mit.edu	37	3	188584007	188584007	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZA-01A-11D-A10S-08	TCGA-BJ-A0ZA-10A-02D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937b098e-73d8-4b69-be9c-552ca283f22e	85111d55-aad8-4fd5-8b75-f9ba222ba71a	g.chr3:188584007A>G	ENST00000312675.4	+	9	1676	c.1430A>G	c.(1429-1431)aAt>aGt	p.N477S	LPP_ENST00000543006.1_Missense_Mutation_p.N477S	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	477	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GAGCAGTGCAATGTGTGTTCC	0.532			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	uc003frs.2				Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	"""HMGA2, MLL, C12orf9"""		"""lipoma, leukemia"""	HMGA2/LPP(161)	0				NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(1429-1431)aAt>aGt		Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.							159.0	136.0	144.0					3																	188584007		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188584007A>G	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1430A>G	3.37:g.188584007A>G	ENSP00000318089:p.Asn477Ser		Somatic				LPP_uc011bsg.2_Missense_Mutation_p.N330S|LPP_uc011bsi.2_Missense_Mutation_p.N477S|LPP_uc011bsj.2_Missense_Mutation_p.N314S	p.N477S	NM_005578	NP_005569	WXS	Illumina GAIIx	Phase_I	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	8	1676	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	477			LIM zinc-binding 2.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.1430A>G	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	A	1.428	-0.571121	0.03882	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	D;D	0.86562	-2.14;-2.14	5.76	-0.704	0.11256	Zinc finger, LIM-type (5);	0.397537	0.34156	N	0.004205	T	0.51719	0.1691	N	0.00459	-1.475	0.19575	N	0.999965	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.55503	-0.8131	10	0.12103	T	0.63	.	2.6457	0.04983	0.186:0.2775:0.3991:0.1374	.	330;477	B7Z8W0;Q93052	.;LPP_HUMAN	S	477	ENSP00000318089:N477S;ENSP00000438891:N477S	ENSP00000318089:N477S	N	+	2	0	LPP	190066701	0.046000	0.20272	0.045000	0.18777	0.970000	0.65996	0.455000	0.21843	-0.339000	0.08401	0.533000	0.62120	AAT		0.532	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		35	48	0	0	0	1	0	35	48				
