#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MEGF6	1953	broad.mit.edu	37	1	3422030	3422030	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:3422030C>T	ENST00000356575.4	-	16	2235	c.2009G>A	c.(2008-2010)aGc>aAc	p.S670N	MEGF6_ENST00000294599.4_Missense_Mutation_p.S565N	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	670						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCAGGAGCAGCTGCCATCCCT	0.706																																					Ovarian(73;978 3658)	ENST00000356575.4																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2008-2010)aGc>aAc		multiple EGF-like-domains 6							13.0	17.0	16.0					1																	3422030		2111	4229	6340	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3422030C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.2009G>A	1.37:g.3422030C>T	ENSP00000348982:p.Ser670Asn		Somatic				MEGF6_ENST00000294599.4_Missense_Mutation_p.S565N	p.S670N	NM_001409.3	NP_001400.3	WXS	Illumina GAIIx	Phase_I	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	16	2235	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	670					Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.2009G>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462937	0.43736	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	T;T	0.35789	1.29;1.29	4.73	3.8	0.43715	EGF-like, laminin (1);	0.319497	0.33110	N	0.005275	T	0.25158	0.0611	L	0.32530	0.975	0.24988	N	0.991559	P;P	0.44521	0.588;0.837	B;P	0.44673	0.269;0.457	T	0.09015	-1.0694	10	0.26408	T	0.33	-20.859	3.2844	0.06926	0.1567:0.521:0.2257:0.0966	.	670;565	O75095;O75095-2	MEGF6_HUMAN;.	N	565;670	ENSP00000294599:S565N;ENSP00000348982:S670N	ENSP00000294599:S565N	S	-	2	0	MEGF6	3411890	0.996000	0.38824	0.971000	0.41717	0.899000	0.52679	0.442000	0.21628	2.160000	0.67779	0.462000	0.41574	AGC		0.706	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		3	17	3	17	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19480294	19480294	+	Nonsense_Mutation	SNP	G	G	A	rs267598259		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:19480294G>A	ENST00000375254.3	-	45	6625	c.6598C>T	c.(6598-6600)Cag>Tag	p.Q2200*	UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375267.2_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q2200*	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2200					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTAATCTCCTGGATAAGAAAA	0.458																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(6598-6600)Cag>Tag		ubiquitin protein ligase E3 component n-recognin 4							99.0	101.0	100.0					1																	19480294		2203	4300	6503	SO:0001587	stop_gained	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19480294G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6598C>T	1.37:g.19480294G>A	ENSP00000364403:p.Gln2200*		Somatic				UBR4_ENST00000375226.2_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.Q2200*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.Q2200*	p.Q2200*			WXS	Illumina GAIIx	Phase_I	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	45	6601	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2200					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Nonsense_Mutation	SNP	ENST00000375254.3	37	c.6598C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	47	13.200288	0.99726	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.6837	0.91556	0.0:0.0:1.0:0.0	.	.	.	.	X	2200;2200;2200;2200;910;1417	.	ENSP00000364365:Q2200X	Q	-	1	0	UBR4	19352881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.025000	0.93694	2.894000	0.99253	0.591000	0.81541	CAG		0.458	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		27	66	27	66	---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	63048923	63048923	+	Silent	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:63048923T>C	ENST00000340370.5	-	16	1820	c.1803A>G	c.(1801-1803)gtA>gtG	p.V601V	DOCK7_ENST00000251157.5_Silent_p.V601V	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	601	DHR-1.				activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TACCAAAGATTACCTGAAACA	0.299																																						ENST00000251157.5																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						c.(1801-1803)gtA>gtG		dedicator of cytokinesis 7							94.0	102.0	99.0					1																	63048923		2202	4300	6502	SO:0001819	synonymous_variant	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63048923T>C		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1803A>G	1.37:g.63048923T>C			Somatic				DOCK7_ENST00000340370.5_Silent_p.V601V	p.V601V	NM_001271999.1	NP_001258928.1	WXS	Illumina GAIIx	Phase_I	Q96N67	DOCK7_HUMAN			16	1836	-			601			DHR-1.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	c.1803A>G	CCDS30734.1																																																																																				0.299	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		4	124	4	124	---	---	---	---
IFI16	3428	broad.mit.edu	37	1	159002391	159002391	+	Nonsense_Mutation	SNP	T	T	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr1:159002391T>A	ENST00000295809.7	+	7	1494	c.1239T>A	c.(1237-1239)taT>taA	p.Y413*	IFI16_ENST00000340979.6_Nonsense_Mutation_p.Y413*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.Y413*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Y357*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Y361*|IFI16_ENST00000368132.3_Nonsense_Mutation_p.Y413*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.Y413*			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	413			Y -> N (in dbSNP:rs1057028). {ECO:0000269|PubMed:12894224, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.6}.		activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AGCTTCCATATCCTTCAGAGG	0.458																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1237-1239)taT>taA		interferon, gamma-inducible protein 16							129.0	121.0	124.0					1																	159002391		2203	4300	6503	SO:0001587	stop_gained	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:159002391T>A	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.1239T>A	1.37:g.159002391T>A	ENSP00000295809:p.Tyr413*		Somatic				IFI16_ENST00000368132.3_Nonsense_Mutation_p.Y413*|IFI16_ENST00000359709.3_Nonsense_Mutation_p.Y357*|IFI16_ENST00000368131.4_Nonsense_Mutation_p.Y413*|IFI16_ENST00000448393.2_Nonsense_Mutation_p.Y413*|IFI16_ENST00000340979.6_Nonsense_Mutation_p.Y413*|IFI16_ENST00000430894.2_Nonsense_Mutation_p.Y361*	p.Y413*			WXS	Illumina GAIIx	Phase_I	Q16666	IF16_HUMAN			7	1494	+	all_hematologic(112;0.0429)		413		Y -> N (in dbSNP:rs1057028).			B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Nonsense_Mutation	SNP	ENST00000295809.7	37	c.1239T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.608190|5.608190	0.96626|0.96626	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|.	.|.	.|.	2.14|2.14	-2.42|-2.42	0.06542|0.06542	.|.	.|.	.|.	.|.	.|.	T|.	0.11707|.	0.0285|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26608|.	-1.0098|.	3|.	.|0.37606	.|T	.|0.19	.|.	2.3042|2.3042	0.04170|0.04170	0.313:0.0:0.1891:0.4979|0.313:0.0:0.1891:0.4979	.|.	.|.	.|.	.|.	N|X	234|413;413;413;413;361	.|.	.|ENSP00000295809:Y413X	I|Y	+|+	2|3	0|2	IFI16|IFI16	157269015|157269015	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-0.626000|-0.626000	0.05527|0.05527	-0.590000|-0.590000	0.05866|0.05866	-0.714000|-0.714000	0.03626|0.03626	ATC|TAT		0.458	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		8	35	8	35	---	---	---	---
FUNDC2P2	388965	broad.mit.edu	37	2	84518075	84518075	+	RNA	SNP	G	G	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr2:84518075G>A	ENST00000331369.5	+	0	269									FUN14 domain containing 2 pseudogene 2																		AAAGTATAGCGTGGCAACCCA	0.507																																						ENST00000331369.5																			0																																																			388965							g.chr2:84518075G>A			2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84518075G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	269	+									RNA	SNP	ENST00000331369.5	37																																																																																						0.507	FUNDC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000333681.1	NR_003663		23	58	23	58	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179635207	179635207	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr2:179635207A>G	ENST00000591111.1	-	35	8536	c.8312T>C	c.(8311-8313)aTc>aCc	p.I2771T	TTN_ENST00000589042.1_Missense_Mutation_p.I2771T|TTN_ENST00000360870.5_Missense_Mutation_p.I2771T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I2725T|TTN_ENST00000359218.5_Missense_Mutation_p.I2725T|TTN_ENST00000460472.2_Missense_Mutation_p.I2725T|TTN_ENST00000342992.6_Missense_Mutation_p.I2771T			Q8WZ42	TITIN_HUMAN	titin	13097			I -> M (in a breast infiltrating ductal carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCATCCACGATGGCACAGTT	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(8311-8313)aTc>aCc		titin							113.0	112.0	112.0					2																	179635207		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635207A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8312T>C	2.37:g.179635207A>G	ENSP00000465570:p.Ile2771Thr		Somatic				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.I2771T|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I2725T|TTN_ENST00000460472.2_Missense_Mutation_p.I2725T|TTN_ENST00000342992.6_Missense_Mutation_p.I2771T|TTN_ENST00000342175.6_Missense_Mutation_p.I2725T|TTN_ENST00000591111.1_Missense_Mutation_p.I2771T	p.I2771T	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		35	8536	-			2509		I -> M (in a breast infiltrating ductal carcinoma sample; somatic mutation).			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.8312T>C		.	.	.	.	.	.	.	.	.	.	A	9.934	1.215677	0.22373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	6.06	4.9	0.64082	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55226	0.1907	N	0.04018	-0.295	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.06405	0.0;0.0;0.0;0.0;0.002	T	0.52147	-0.8614	9	0.87932	D	0	.	12.3952	0.55380	0.9338:0.0:0.0662:0.0	.	2725;2725;2725;2771;2771	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	T	2771;2725;2725;2725;2725;2771	ENSP00000343764:I2771T;ENSP00000434586:I2725T;ENSP00000340554:I2725T;ENSP00000352154:I2725T;ENSP00000354117:I2771T	ENSP00000340554:I2725T	I	-	2	0	TTN	179343452	0.933000	0.31639	0.017000	0.16124	0.939000	0.58152	5.275000	0.65575	2.315000	0.78130	0.533000	0.62120	ATC		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	96	4	96	---	---	---	---
CAPN7	23473	broad.mit.edu	37	3	15292459	15292459	+	Missense_Mutation	SNP	G	G	T	rs575083078		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr3:15292459G>T	ENST00000253693.2	+	20	2479	c.2226G>T	c.(2224-2226)gaG>gaT	p.E742D		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	742	Domain N.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TTGGATTTGAGGTTGTAACAG	0.333																																						ENST00000253693.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						c.(2224-2226)gaG>gaT		calpain 7							155.0	152.0	153.0					3																	15292459		2203	4300	6503	SO:0001583	missense	23473				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity	g.chr3:15292459G>T	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.2226G>T	3.37:g.15292459G>T	ENSP00000253693:p.Glu742Asp		Somatic					p.E742D	NM_014296.2	NP_055111.1	WXS	Illumina GAIIx	Phase_I	Q9Y6W3	CAN7_HUMAN			20	2479	+			742			Domain N.			Missense_Mutation	SNP	ENST00000253693.2	37	c.2226G>T	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.925821	0.34002	.	.	ENSG00000131375	ENST00000253693	D	0.87412	-2.25	6.04	-1.28	0.09318	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.045721	0.85682	D	0.000000	T	0.77068	0.4076	L	0.34521	1.04	0.58432	D	0.999991	B	0.14012	0.009	B	0.18871	0.023	T	0.61559	-0.7038	10	0.22706	T	0.39	-27.3609	11.3399	0.49527	0.7855:0.0:0.2145:0.0	.	742	Q9Y6W3	CAN7_HUMAN	D	742	ENSP00000253693:E742D	ENSP00000253693:E742D	E	+	3	2	CAPN7	15267463	1.000000	0.71417	0.932000	0.37286	0.848000	0.48234	1.367000	0.34204	-0.114000	0.11936	-0.781000	0.03364	GAG		0.333	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2	NM_014296		3	78	3	78	---	---	---	---
ABHD6	57406	broad.mit.edu	37	3	58279458	58279458	+	Missense_Mutation	SNP	T	T	G			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr3:58279458T>G	ENST00000478253.1	+	10	1481	c.980T>G	c.(979-981)gTg>gGg	p.V327G	ABHD6_ENST00000295962.4_Missense_Mutation_p.V327G			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	327					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		TTAGCTTCTGTGCACAACACA	0.537																																						ENST00000478253.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16						c.(979-981)gTg>gGg		abhydrolase domain containing 6							86.0	75.0	78.0					3																	58279458		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58279458T>G	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.980T>G	3.37:g.58279458T>G	ENSP00000420315:p.Val327Gly		Somatic				ABHD6_ENST00000295962.4_Missense_Mutation_p.V327G	p.V327G			WXS	Illumina GAIIx	Phase_I	Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	10	1481	+			327					B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.980T>G	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.788740	0.49997	.	.	ENSG00000163686	ENST00000478253;ENST00000295962	D;D	0.81996	-1.56;-1.56	5.84	3.44	0.39384	.	0.311519	0.34853	N	0.003640	T	0.73976	0.3656	L	0.41906	1.305	0.51012	D	0.999905	B	0.27380	0.177	B	0.28553	0.091	T	0.65434	-0.6169	10	0.37606	T	0.19	-9.9948	7.9954	0.30265	0.0:0.0713:0.1369:0.7918	.	327	Q9BV23	ABHD6_HUMAN	G	327	ENSP00000420315:V327G;ENSP00000295962:V327G	ENSP00000295962:V327G	V	+	2	0	ABHD6	58254498	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	3.839000	0.55835	0.459000	0.27016	0.533000	0.62120	GTG		0.537	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1	NM_020676		10	36	10	36	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33658389	33658389	+	Missense_Mutation	SNP	A	A	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr5:33658389A>T	ENST00000504830.1	-	7	1425	c.1090T>A	c.(1090-1092)Tct>Act	p.S364T	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S364T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	364	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAAAGGTGAGACAGGCCCAGG	0.507										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(1090-1092)Tct>Act		ADAM metallopeptidase with thrombospondin type 1 motif, 12							138.0	139.0	139.0					5																	33658389		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33658389A>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1090T>A	5.37:g.33658389A>T	ENSP00000422554:p.Ser364Thr	HNSCC(64;0.19)	Somatic				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S364T|ADAMTS12_ENST00000504582.1_5'UTR	p.S364T	NM_030955.2	NP_112217.2	WXS	Illumina GAIIx	Phase_I	P58397	ATS12_HUMAN			7	1425	-			364			Peptidase M12B.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1090T>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	A	32	5.106424	0.94292	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.87029	-2.2;-2.2	6.17	6.17	0.99709	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	L	0.35542	1.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.988	D	0.91363	0.5113	10	0.72032	D	0.01	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	364;364	P58397-3;P58397	.;ATS12_HUMAN	T	364	ENSP00000422554:S364T;ENSP00000344847:S364T	ENSP00000344847:S364T	S	-	1	0	ADAMTS12	33694146	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TCT		0.507	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		30	50	30	50	---	---	---	---
CCDC146	57639	broad.mit.edu	37	7	76885704	76885704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:76885704G>T	ENST00000285871.4	+	6	689	c.562G>T	c.(562-564)Gaa>Taa	p.E188*	CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	188										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATTACGTAAAGAAATAATGCA	0.294																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(562-564)Gaa>Taa		coiled-coil domain containing 146							45.0	47.0	46.0					7																	76885704		2203	4296	6499	SO:0001587	stop_gained	57639							g.chr7:76885704G>T	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.562G>T	7.37:g.76885704G>T	ENSP00000285871:p.Glu188*		Somatic				CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	p.E188*	NM_020879.2	NP_065930.2	WXS	Illumina GAIIx	Phase_I	Q8IYE0	CC146_HUMAN			6	689	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	188					A8K8X6|Q9P223	Nonsense_Mutation	SNP	ENST00000285871.4	37	c.562G>T	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	G	38	6.857808	0.97889	.	.	ENSG00000135205	ENST00000285871	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-24.2753	19.1462	0.93469	0.0:0.0:1.0:0.0	.	.	.	.	X	188	.	ENSP00000285871:E188X	E	+	1	0	AC007000.1	76723640	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	6.678000	0.74508	2.817000	0.96982	0.563000	0.77884	GAA		0.294	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		6	26	6	26	---	---	---	---
PON3	5446	broad.mit.edu	37	7	94996690	94996690	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:94996690G>T	ENST00000265627.5	-	5	488	c.478C>A	c.(478-480)Cat>Aat	p.H160N	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.H160N|PON3_ENST00000451904.1_Missense_Mutation_p.H160N	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	160					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	AGAAGTTCATGTTTTATAGTT	0.368																																						ENST00000265627.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24						c.(478-480)Cat>Aat		paraoxonase 3							121.0	122.0	122.0					7																	94996690		2203	4300	6503	SO:0001583	missense	5446							g.chr7:94996690G>T	L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.478C>A	7.37:g.94996690G>T	ENSP00000265627:p.His160Asn		Somatic				PON3_ENST00000451904.1_Missense_Mutation_p.H160N|PON3_ENST00000427422.1_Missense_Mutation_p.H160N|PON1_ENST00000542556.1_Intron	p.H160N	NM_000940.2	NP_000931.1	WXS	Illumina GAIIx	Phase_I			STAD - Stomach adenocarcinoma(171;0.0151)		5	488	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)							A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	c.478C>A	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498158	0.44455	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.16457	2.34;2.34	4.78	4.78	0.61160	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	M	0.83118	2.625	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.77004	0.989;0.966	T	0.50415	-0.8831	10	0.59425	D	0.04	-21.7234	17.9931	0.89175	0.0:0.0:1.0:0.0	.	208;160	B4E2I0;Q15166	.;PON3_HUMAN	N	160	ENSP00000265627:H160N;ENSP00000413276:H160N	ENSP00000265627:H160N	H	-	1	0	PON3	94834626	1.000000	0.71417	0.808000	0.32385	0.011000	0.07611	8.645000	0.91049	2.669000	0.90835	0.585000	0.79938	CAT		0.368	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940		5	94	5	94	---	---	---	---
TP53INP1	94241	broad.mit.edu	37	8	95952206	95952206	+	Missense_Mutation	SNP	T	T	C	rs201012799		TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr8:95952206T>C	ENST00000342697.4	-	3	762	c.355A>G	c.(355-357)Atg>Gtg	p.M119V	TP53INP1_ENST00000378776.4_Missense_Mutation_p.M119V|TP53INP1_ENST00000448464.2_Missense_Mutation_p.M119V|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	119					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AGGTTTTCCATAGGACTTGTT	0.488													T|||	1	0.000199681	0.0	0.0	5008	,	,		21861	0.0		0.0	False		,,,				2504	0.001					ENST00000342697.4																			0				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(355-357)Atg>Gtg		tumor protein p53 inducible nuclear protein 1		T	VAL/MET,VAL/MET	0,4406		0,0,2203	168.0	144.0	152.0		355,355	0.0	1.0	8		152	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	TP53INP1	NM_001135733.1,NM_033285.3	21,21	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign,benign	119/165,119/241	95952206	2,13004	2203	4300	6503	SO:0001583	missense	94241				apoptosis	PML body		g.chr8:95952206T>C	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.355A>G	8.37:g.95952206T>C	ENSP00000344215:p.Met119Val		Somatic				TP53INP1_ENST00000378776.4_Missense_Mutation_p.M119V|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.M119V	p.M119V	NM_033285.3	NP_150601.1	WXS	Illumina GAIIx	Phase_I	Q96A56	T53I1_HUMAN			3	762	-	Breast(36;8.75e-07)		119					B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	c.355A>G	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108309	0.37242	0.0	2.33E-4	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.49720	0.77;0.77;0.77	6.17	0.0339	0.14181	.	0.215020	0.56097	D	0.000026	T	0.41949	0.1181	M	0.66939	2.045	0.30046	N	0.812225	B;B	0.23806	0.038;0.091	B;B	0.23419	0.033;0.046	T	0.45920	-0.9228	10	0.66056	D	0.02	-8.4663	8.488	0.33082	0.1737:0.0:0.2772:0.5492	.	119;119	Q96A56-2;Q96A56	.;T53I1_HUMAN	V	119	ENSP00000390063:M119V;ENSP00000344215:M119V;ENSP00000368052:M119V	ENSP00000344215:M119V	M	-	1	0	TP53INP1	96021382	0.863000	0.29885	0.993000	0.49108	0.997000	0.91878	1.123000	0.31308	0.139000	0.18822	0.533000	0.62120	ATG		0.488	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			10	45	10	45	---	---	---	---
ZEB1	6935	broad.mit.edu	37	10	31815612	31815612	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr10:31815612A>G	ENST00000320985.10	+	9	2905	c.2795A>G	c.(2794-2796)cAt>cGt	p.H932R	ZEB1_ENST00000560721.2_Missense_Mutation_p.H912R|ZEB1_ENST00000542815.3_Missense_Mutation_p.H865R|ZEB1_ENST00000446923.2_Missense_Mutation_p.H916R|ZEB1_ENST00000361642.5_Missense_Mutation_p.H933R			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	932					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAAGACCTCATGAGTGTGGA	0.333																																					Ovarian(40;423 959 14296 36701 49589)	ENST00000446923.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77						c.(2746-2748)cAt>cGt		zinc finger E-box binding homeobox 1							56.0	57.0	57.0					10																	31815612		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31815612A>G	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2795A>G	10.37:g.31815612A>G	ENSP00000319248:p.His932Arg		Somatic				ZEB1_ENST00000560721.2_Missense_Mutation_p.H912R|ZEB1_ENST00000361642.5_Missense_Mutation_p.H933R|ZEB1_ENST00000320985.10_Missense_Mutation_p.H932R|ZEB1_ENST00000542815.3_Missense_Mutation_p.H865R	p.H916R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	WXS	Illumina GAIIx	Phase_I	P37275	ZEB1_HUMAN			9	3138	+		Prostate(175;0.0156)	932					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2747A>G	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.102100	0.76983	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	5.13	5.13	0.70059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.502966	0.18585	N	0.136889	T	0.72692	0.3492	M	0.69358	2.11	0.80722	D	1	D;P;P;P;P	0.65815	0.995;0.684;0.915;0.801;0.801	D;B;P;B;B	0.64321	0.924;0.419;0.783;0.419;0.419	T	0.75714	-0.3221	10	0.87932	D	0	-2.0149	14.9143	0.70781	1.0:0.0:0.0:0.0	.	865;916;912;933;932	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	R	714;932;933;927;865;932;912;823;916	ENSP00000444282:H714R;ENSP00000354487:H933R;ENSP00000444891:H865R;ENSP00000319248:H932R;ENSP00000391612:H916R	ENSP00000319248:H932R	H	+	2	0	ZEB1	31855618	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	9.283000	0.95860	1.946000	0.56461	0.477000	0.44152	CAT		0.333	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		9	27	9	27	---	---	---	---
TSG101	7251	broad.mit.edu	37	11	18541081	18541081	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:18541081C>T	ENST00000251968.3	-	2	527	c.112G>A	c.(112-114)Gtt>Att	p.V38I	TSG101_ENST00000357193.3_Intron|TSG101_ENST00000536719.1_Missense_Mutation_p.V38I	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	38	UEV. {ECO:0000255|PROSITE- ProRule:PRU00652}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GAATCCAAAACAGGTTTGAGA	0.299																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(112-114)Gtt>Att		tumor susceptibility 101							136.0	134.0	134.0					11																	18541081		2199	4292	6491	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18541081C>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.112G>A	11.37:g.18541081C>T	ENSP00000251968:p.Val38Ile		Somatic				TSG101_ENST00000357193.3_Intron|TSG101_ENST00000251968.3_Missense_Mutation_p.V38I	p.V38I			WXS	Illumina GAIIx	Phase_I	Q99816	TS101_HUMAN			2	246	-			38			UEV.		Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.112G>A	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.243186	0.39697	.	.	ENSG00000074319	ENST00000536719;ENST00000251968	T;T	0.42513	0.97;0.98	5.4	3.36	0.38483	Ubiquitin E2 variant, N-terminal (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.072290	0.56097	D	0.000039	T	0.28200	0.0696	L	0.33485	1.01	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10567	-1.0624	10	0.38643	T	0.18	-19.7365	7.4843	0.27423	0.0:0.7159:0.1383:0.1457	.	38	Q99816	TS101_HUMAN	I	38	ENSP00000438471:V38I;ENSP00000251968:V38I	ENSP00000251968:V38I	V	-	1	0	TSG101	18497657	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.003000	0.29809	2.535000	0.85469	0.313000	0.20887	GTT		0.299	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		53	110	53	110	---	---	---	---
MUC15	143662	broad.mit.edu	37	11	26586956	26586956	+	Silent	SNP	A	A	G			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:26586956A>G	ENST00000455601.2	-	2	568	c.450T>C	c.(448-450)acT>acC	p.T150T	MUC15_ENST00000436318.2_Silent_p.T177T|MUC15_ENST00000529533.1_Silent_p.T177T|MUC15_ENST00000281268.8_Silent_p.T177T|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Silent_p.T177T|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	150					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CCAAAGACCAAGTGAAGTTTT	0.443																																						ENST00000436318.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(529-531)acT>acC		mucin 15, cell surface associated							158.0	148.0	152.0					11																	26586956		2203	4300	6503	SO:0001819	synonymous_variant	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26586956A>G	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.450T>C	11.37:g.26586956A>G			Somatic				MUC15_ENST00000281268.8_Silent_p.T177T|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Silent_p.T150T|MUC15_ENST00000527569.1_Silent_p.T177T|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Silent_p.T177T|ANO3_ENST00000537978.1_Intron	p.T177T			WXS	Illumina GAIIx	Phase_I	Q8N387	MUC15_HUMAN			2	664	-			150					B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	ENST00000455601.2	37	c.531T>C	CCDS7859.1																																																																																				0.443	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		24	87	24	87	---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35515649	35515649	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:35515649T>A	ENST00000378880.2	-	2	690	c.245A>T	c.(244-246)cAc>cTc	p.H82L	PAMR1_ENST00000378878.3_Missense_Mutation_p.H82L|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Missense_Mutation_p.H82L|PAMR1_ENST00000532848.1_Missense_Mutation_p.H42L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	82	Cys-rich.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CTCACCTGGGTGGATCAGGCA	0.527																																						ENST00000378880.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						c.(244-246)cAc>cTc		peptidase domain containing associated with muscle regeneration 1							233.0	159.0	184.0					11																	35515649		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35515649T>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.245A>T	11.37:g.35515649T>A	ENSP00000368158:p.His82Leu		Somatic				PAMR1_ENST00000278360.3_Missense_Mutation_p.H82L|PAMR1_ENST00000378878.3_Missense_Mutation_p.H82L|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Missense_Mutation_p.H42L	p.H82L	NM_001001991.1	NP_001001991.1	WXS	Illumina GAIIx	Phase_I	Q6UXH9	PAMR1_HUMAN			2	690	-			82			Cys-rich.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.245A>T	CCDS31460.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.364465	0.82463	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605;ENST00000529303	D;D;D;D;D;D	0.90676	-2.23;-2.26;-2.47;-2.22;-2.23;-2.71	4.85	4.85	0.62838	.	0.061202	0.64402	D	0.000010	D	0.91456	0.7303	N	0.24115	0.695	0.37401	D	0.91285	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.986;0.998	D	0.94006	0.7280	10	0.87932	D	0	.	14.4246	0.67207	0.0:0.0:0.0:1.0	.	82;82;82	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	L	82;82;82;42;42;82	ENSP00000278360:H82L;ENSP00000368158:H82L;ENSP00000368156:H82L;ENSP00000433868:H42L;ENSP00000432591:H42L;ENSP00000433024:H82L	ENSP00000278360:H82L	H	-	2	0	PAMR1	35472225	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.978000	0.88095	1.821000	0.53095	0.459000	0.35465	CAC		0.527	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		8	69	8	69	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62296740	62296740	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:62296740T>A	ENST00000378024.4	-	5	5423	c.5149A>T	c.(5149-5151)Atg>Ttg	p.M1717L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1717					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AACTTGGGCATTTTCATCTTG	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5149-5151)Atg>Ttg		AHNAK nucleoprotein							211.0	218.0	216.0					11																	62296740		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296740T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5149A>T	11.37:g.62296740T>A	ENSP00000367263:p.Met1717Leu		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.M1717L	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	5423	-		Melanoma(852;0.155)	1717					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5149A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	10.83	1.461695	0.26248	.	.	ENSG00000124942	ENST00000378024	T	0.01221	5.15	3.9	1.32	0.21799	.	0.000000	0.44902	U	0.000414	T	0.03520	0.0101	L	0.59967	1.855	0.28100	N	0.931443	P	0.34826	0.471	P	0.50791	0.65	T	0.25710	-1.0124	10	0.13470	T	0.59	.	10.1562	0.42825	0.0:0.0:0.3215:0.6785	.	1717	Q09666	AHNK_HUMAN	L	1717	ENSP00000367263:M1717L	ENSP00000367263:M1717L	M	-	1	0	AHNAK	62053316	0.943000	0.32029	0.420000	0.26596	0.170000	0.22686	0.994000	0.29693	0.018000	0.15052	0.254000	0.18369	ATG		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	299	8	299	---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76257110	76257110	+	Silent	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:76257110T>C	ENST00000529032.1	+	19	3543	c.3543T>C	c.(3541-3543)acT>acC	p.T1181T	C11orf30_ENST00000524767.1_Silent_p.T1196T|C11orf30_ENST00000525038.1_Silent_p.T1182T|C11orf30_ENST00000334736.3_Silent_p.T1181T|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000524490.1_Silent_p.T1083T|C11orf30_ENST00000533248.1_Silent_p.T1090T|C11orf30_ENST00000525919.1_Silent_p.T1182T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1181					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCATGCTCACTGGTGAAGCAG	0.468																																						ENST00000529032.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						c.(3541-3543)acT>acC		chromosome 11 open reading frame 30							90.0	89.0	89.0					11																	76257110		2200	4292	6492	SO:0001819	synonymous_variant	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76257110T>C	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3543T>C	11.37:g.76257110T>C			Somatic				C11orf30_ENST00000524767.1_Silent_p.T1196T|C11orf30_ENST00000524490.1_Silent_p.T1083T|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525038.1_Silent_p.T1182T|C11orf30_ENST00000334736.3_Silent_p.T1181T|C11orf30_ENST00000533248.1_Silent_p.T1090T|C11orf30_ENST00000525919.1_Silent_p.T1182T	p.T1181T			WXS	Illumina GAIIx	Phase_I	Q7Z589	EMSY_HUMAN			19	3543	+			1181					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Silent	SNP	ENST00000529032.1	37	c.3543T>C	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	T	3.830	-0.036049	0.07497	.	.	ENSG00000158636	ENST00000531793	.	.	.	5.53	4.39	0.52855	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61028	-0.7145	4	.	.	.	-3.7938	12.1326	0.53952	0.0:0.0:0.2708:0.7292	.	.	.	.	P	40	.	.	L	+	2	0	C11orf30	75934758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.924000	0.40065	1.090000	0.41315	0.528000	0.53228	CTG		0.468	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		29	30	29	30	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117301609	117301609	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:117301609T>C	ENST00000321322.6	-	32	5696	c.5695A>G	c.(5695-5697)Agt>Ggt	p.S1899G	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1629G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1839					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCAGAGGAACTGTCAGAGATG	0.587																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(5695-5697)Agt>Ggt		Down syndrome cell adhesion molecule like 1							300.0	252.0	268.0					11																	117301609		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117301609T>C		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5695A>G	11.37:g.117301609T>C	ENSP00000315465:p.Ser1899Gly		Somatic				DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1629G	p.S1899G	NM_020693.2	NP_065744.2	WXS	Illumina GAIIx	Phase_I	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	32	5696	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1839					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5695A>G	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.171437	0.78452	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.63744	-0.02;-0.06	5.04	5.04	0.67666	.	.	.	.	.	T	0.54775	0.1879	N	0.19112	0.55	0.58432	D	0.999993	P	0.52316	0.952	P	0.47573	0.55	T	0.62263	-0.6891	9	0.72032	D	0.01	.	14.9328	0.70929	0.0:0.0:0.0:1.0	.	1839	Q8TD84	DSCL1_HUMAN	G	1629;1899;1606	ENSP00000434335:S1629G;ENSP00000315465:S1899G	ENSP00000315465:S1899G	S	-	1	0	DSCAML1	116806819	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.868000	0.87116	2.123000	0.65237	0.482000	0.46254	AGT		0.587	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		5	155	5	155	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900402	123900402	+	Missense_Mutation	SNP	C	C	T	rs147950397	byFrequency	TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr11:123900402C>T	ENST00000431524.1	+	1	106	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGACGCCCCCCTCTTTGGAGT	0.582																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(73-75)Ctc>Ttc		olfactory receptor, family 10, subfamily G, member 8							184.0	172.0	176.0					11																	123900402		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900402C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.73C>T	11.37:g.123900402C>T	ENSP00000389072:p.Leu25Phe		Somatic					p.L25F	NM_001004464.1	NP_001004464.1	WXS	Illumina GAIIx	Phase_I	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	106	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	25					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.73C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	7.428	0.638055	0.14386	.	.	ENSG00000234560	ENST00000431524	T	0.17213	2.29	2.95	2.95	0.34219	.	0.000000	0.43747	D	0.000532	T	0.14570	0.0352	L	0.42529	1.33	0.21473	N	0.999676	B	0.25609	0.13	B	0.33042	0.157	T	0.13124	-1.0521	10	0.37606	T	0.19	.	5.9973	0.19501	0.0:0.8523:0.0:0.1477	.	25	Q8NGN5	O10G8_HUMAN	F	25	ENSP00000389072:L25F	ENSP00000389072:L25F	L	+	1	0	OR10G8	123405612	0.867000	0.29959	0.215000	0.23724	0.022000	0.10575	1.277000	0.33167	1.634000	0.50500	0.585000	0.79938	CTC		0.582	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		38	108	38	108	---	---	---	---
CS	1431	broad.mit.edu	37	12	56679800	56679800	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr12:56679800T>C	ENST00000351328.3	-	3	291	c.101A>G	c.(100-102)aAa>aGa	p.K34R	CS_ENST00000542324.2_Missense_Mutation_p.K21R|CS_ENST00000548567.1_5'UTR|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.K230R	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	34					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CAATATGTCTTTCAAATTCTA	0.403																																						ENST00000351328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17						c.(100-102)aAa>aGa		citrate synthase							110.0	106.0	108.0					12																	56679800		2203	4300	6503	SO:0001583	missense	1431				cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity	g.chr12:56679800T>C		CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.101A>G	12.37:g.56679800T>C	ENSP00000342056:p.Lys34Arg		Somatic				CS_ENST00000548567.1_5'UTR|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.K230R|CS_ENST00000542324.2_Missense_Mutation_p.K21R	p.K34R	NM_004077.2	NP_004068.2	WXS	Illumina GAIIx	Phase_I	O75390	CISY_HUMAN		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)	3	291	-		Myeloproliferative disorder(1001;0.000374)	34					Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	c.101A>G	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.380345	0.82682	.	.	ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000062485;ENSG00000144785;ENSG00000144785	ENST00000351328;ENST00000542324;ENST00000546930;ENST00000548041;ENST00000546554;ENST00000550655;ENST00000551968;ENST00000549318;ENST00000547423	.	.	.	3.79	3.79	0.43588	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	L	0.46741	1.465	0.58432	D	0.999998	B;B	0.28324	0.207;0.207	B;B	0.29440	0.102;0.066	T	0.54523	-0.8281	9	0.49607	T	0.09	-12.6527	12.4999	0.55950	0.0:0.0:0.0:1.0	.	21;34	B4DJV2;O75390	.;CISY_HUMAN	R	34;21;34;34;34;34;34;230;88	.	ENSP00000342056:K34R	K	-	2	0	RP11-977G19.10;CS	54966067	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.340000	0.79292	1.956000	0.56807	0.533000	0.62120	AAA		0.403	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2	NM_004077		12	81	12	81	---	---	---	---
PLXNC1	10154	broad.mit.edu	37	12	94641683	94641683	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr12:94641683C>A	ENST00000258526.4	+	13	2642	c.2393C>A	c.(2392-2394)tCt>tAt	p.S798Y		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	798					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GTCCAGGTCTCTGAATATTGT	0.423																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2392-2394)tCt>tAt		plexin C1							124.0	130.0	128.0					12																	94641683		2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94641683C>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.2393C>A	12.37:g.94641683C>A	ENSP00000258526:p.Ser798Tyr		Somatic					p.S798Y	NM_005761.2	NP_005752.1	WXS	Illumina GAIIx	Phase_I	O60486	PLXC1_HUMAN			13	2642	+			798					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.2393C>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421098	0.62622	.	.	ENSG00000136040	ENST00000258526	T	0.80994	-1.44	5.94	5.05	0.67936	Cell surface receptor IPT/TIG (2);	1.171210	0.05849	N	0.620769	D	0.83830	0.5339	L	0.29908	0.895	0.80722	D	1	D	0.65815	0.995	P	0.60541	0.876	T	0.75158	-0.3416	10	0.66056	D	0.02	.	11.9242	0.52810	0.0:0.9211:0.0:0.0789	.	798	O60486	PLXC1_HUMAN	Y	798	ENSP00000258526:S798Y	ENSP00000258526:S798Y	S	+	2	0	PLXNC1	93165814	1.000000	0.71417	0.998000	0.56505	0.544000	0.35116	1.399000	0.34566	2.820000	0.97059	0.650000	0.86243	TCT		0.423	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			6	106	6	106	---	---	---	---
F7	2155	broad.mit.edu	37	13	113772752	113772752	+	Silent	SNP	C	C	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr13:113772752C>T	ENST00000375581.3	+	9	866	c.831C>T	c.(829-831)gaC>gaT	p.D277D	F7_ENST00000541084.1_Silent_p.D208D|F7_ENST00000346342.3_Silent_p.D255D	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	277	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		D -> N (in FA7D). {ECO:0000269|PubMed:18976247}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCGAGCACGACGGGGATGAGC	0.682																																						ENST00000375581.3																			0				large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	GRCh37	CI010146	F7	I		c.(829-831)gaC>gaT		coagulation factor VII (serum prothrombin conversion accelerator)	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						65.0	66.0	66.0					13																	113772752		2202	4299	6501	SO:0001819	synonymous_variant	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113772752C>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.831C>T	13.37:g.113772752C>T			Somatic				F7_ENST00000346342.3_Silent_p.D255D|F7_ENST00000541084.1_Silent_p.D208D	p.D277D	NM_000131.4	NP_000122.1	WXS	Illumina GAIIx	Phase_I	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		9	866	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	277		D -> N (in FA7D).	Peptidase S1.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Silent	SNP	ENST00000375581.3	37	c.831C>T	CCDS9528.1																																																																																				0.682	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		13	38	13	38	---	---	---	---
AKT1	207	broad.mit.edu	37	14	105239420	105239420	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr14:105239420C>A	ENST00000554581.1	-	10	2447	c.967G>T	c.(967-969)Gac>Tac	p.D323Y	AKT1_ENST00000555458.1_Missense_Mutation_p.D18Y|AKT1_ENST00000349310.3_Missense_Mutation_p.D323Y|AKT1_ENST00000544168.1_Missense_Mutation_p.D261Y|RP11-982M15.2_ENST00000557223.1_RNA|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000402615.2_Missense_Mutation_p.D323Y|AKT1_ENST00000554192.1_Intron|AKT1_ENST00000554848.1_Missense_Mutation_p.D323Y|AKT1_ENST00000407796.2_Missense_Mutation_p.D323Y|AKT1_ENST00000555528.1_Missense_Mutation_p.D323Y			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	323	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation-induced cell death of T cells (GO:0006924)|aging (GO:0007568)|anagen (GO:0042640)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell projection organization (GO:0030030)|cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to mechanical stimulus (GO:0071260)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|execution phase of apoptosis (GO:0097194)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycogen cell differentiation involved in embryonic placenta development (GO:0060709)|hyaluronan metabolic process (GO:0030212)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|labyrinthine layer blood vessel development (GO:0060716)|mammary gland epithelial cell differentiation (GO:0060644)|maternal placenta development (GO:0001893)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of proteolysis (GO:0045861)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|osteoblast differentiation (GO:0001649)|peptidyl-serine phosphorylation (GO:0018105)|peripheral nervous system myelin maintenance (GO:0032287)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell growth (GO:0030307)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle checkpoint (GO:1901976)|regulation of cell migration (GO:0030334)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of neuron projection development (GO:0010975)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of translation (GO:0006417)|response to fluid shear stress (GO:0034405)|response to food (GO:0032094)|response to heat (GO:0009408)|response to UV-A (GO:0070141)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|striated muscle cell differentiation (GO:0051146)|T cell costimulation (GO:0031295)|translation (GO:0006412)	cell-cell junction (GO:0005911)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|nitric-oxide synthase regulator activity (GO:0030235)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGTCATTGTCCTCCAGCACC	0.632		1	Mis		"""breast, colorectal, ovarian, NSCLC"""																																	ENST00000554581.1		1		Dom	yes		14	14q32.32	207	Mis	v-akt murine thymoma viral oncogene homolog 1			E			"""breast, colorectal, ovarian, NSCLC"""		0				NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176						c.(967-969)Gac>Tac		v-akt murine thymoma viral oncogene homolog 1	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)						94.0	67.0	76.0					14																	105239420		2203	4300	6503	SO:0001583	missense	207				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	g.chr14:105239420C>A	M63167	CCDS9994.1	14q32.33	2014-09-17			ENSG00000142208	ENSG00000142208	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	391	protein-coding gene	gene with protein product		164730					Standard	XM_005267401		Approved	RAC, PKB, PRKBA, AKT	uc001ypn.3	P31749	OTTHUMG00000170795	ENST00000554581.1:c.967G>T	14.37:g.105239420C>A	ENSP00000451828:p.Asp323Tyr		Somatic				AKT1_ENST00000349310.3_Missense_Mutation_p.D323Y|AKT1_ENST00000407796.2_Missense_Mutation_p.D323Y|AKT1_ENST00000544168.1_Missense_Mutation_p.D261Y|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000402615.2_Missense_Mutation_p.D323Y|AKT1_ENST00000554192.1_Intron|AKT1_ENST00000554848.1_Missense_Mutation_p.D323Y|AKT1_ENST00000555528.1_Missense_Mutation_p.D323Y|AKT1_ENST00000555458.1_Missense_Mutation_p.D18Y	p.D323Y			WXS	Illumina GAIIx	Phase_I	P31749	AKT1_HUMAN	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	10	2447	-		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	323			Protein kinase.		B2RAM5|B7Z5R1|Q9BWB6	Missense_Mutation	SNP	ENST00000554581.1	37	c.967G>T	CCDS9994.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.198690	0.79015	.	.	ENSG00000142208	ENST00000554581;ENST00000407796;ENST00000349310;ENST00000402615;ENST00000555528;ENST00000555458;ENST00000544168;ENST00000554848	T;T;T;T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78;1.78;1.78;1.78	3.28	3.28	0.37604	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38852	0.1056	L	0.33753	1.03	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.40664	-0.9551	10	0.87932	D	0	.	15.0673	0.72005	0.0:1.0:0.0:0.0	.	323	P31749	AKT1_HUMAN	Y	323;323;323;323;323;18;261;323	ENSP00000451828:D323Y;ENSP00000384293:D323Y;ENSP00000270202:D323Y;ENSP00000385326:D323Y;ENSP00000450688:D323Y;ENSP00000451470:D18Y;ENSP00000443897:D261Y;ENSP00000451166:D323Y	ENSP00000270202:D323Y	D	-	1	0	AKT1	104310465	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	5.714000	0.68422	1.820000	0.53075	0.401000	0.26515	GAC		0.632	AKT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410418.1	NM_005163		5	48	5	48	---	---	---	---
PALB2	79728	broad.mit.edu	37	16	23632759	23632759	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr16:23632759T>C	ENST00000261584.4	-	10	3189	c.3037A>G	c.(3037-3039)Ata>Gta	p.I1013V	CTD-2196E14.3_ENST00000561764.1_RNA	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	1013	Interaction with RAD51, BRCA2 and POLH.|Required for interaction with POLH and POLH DNA synthesis stimulation.				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		AAAGTTAGTATAGTCTCCTCA	0.408			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(3037-3039)Ata>Gta	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							110.0	105.0	107.0					16																	23632759		2197	4300	6497	SO:0001583	missense	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23632759T>C		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.3037A>G	16.37:g.23632759T>C	ENSP00000261584:p.Ile1013Val		Somatic				CTD-2196E14.3_ENST00000561764.1_RNA	p.I1013V	NM_024675.3	NP_078951.2	WXS	Illumina GAIIx	Phase_I	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	10	3189	-			1013			Interaction with RAD51 and BRCA2.		A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Missense_Mutation	SNP	ENST00000261584.4	37	c.3037A>G	CCDS32406.1	.	.	.	.	.	.	.	.	.	.	T	2.335	-0.352394	0.05173	.	.	ENSG00000083093	ENST00000261584	T	0.25579	1.79	5.31	-6.59	0.01830	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.630820	0.16193	N	0.225295	T	0.13157	0.0319	N	0.25144	0.715	0.09310	N	1	B	0.09022	0.002	B	0.14578	0.011	T	0.26744	-1.0094	10	0.12103	T	0.63	-1.7695	14.9729	0.71249	0.0:0.6298:0.0:0.3702	.	1013	Q86YC2	PALB2_HUMAN	V	1013	ENSP00000261584:I1013V	ENSP00000261584:I1013V	I	-	1	0	PALB2	23540260	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	-2.159000	0.01280	-1.670000	0.01468	-1.466000	0.01016	ATA		0.408	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		5	56	5	56	---	---	---	---
ACACA	31	broad.mit.edu	37	17	35536315	35536315	+	Silent	SNP	A	A	T			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr17:35536315A>T	ENST00000394406.2	-	41	5044	c.4854T>A	c.(4852-4854)acT>acA	p.T1618T	ACACA_ENST00000360679.3_Silent_p.T1560T|ACACA_ENST00000353139.5_Silent_p.T1655T|ACACA_ENST00000335166.5_Silent_p.T1540T	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1618					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAAATGCTTGAGTGGACATAG	0.413																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(4963-4965)acT>acA		acetyl-CoA carboxylase alpha	Biotin(DB00121)						114.0	105.0	108.0					17																	35536315		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35536315A>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.4854T>A	17.37:g.35536315A>T			Somatic				ACACA_ENST00000360679.3_Silent_p.T1560T|ACACA_ENST00000335166.5_Silent_p.T1540T|ACACA_ENST00000394406.2_Silent_p.T1618T	p.T1655T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	WXS	Illumina GAIIx	Phase_I	Q13085	ACACA_HUMAN			41	5446	-		Breast(25;0.00157)|Ovarian(249;0.15)	1618					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.4965T>A	CCDS11317.1																																																																																				0.413	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		9	34	9	34	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21330980	21330980	+	Silent	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr18:21330980T>C	ENST00000313654.9	+	5	1024	c.783T>C	c.(781-783)cgT>cgC	p.R261R	LAMA3_ENST00000399516.3_Silent_p.R261R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	261	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCCGCTTGCGTTTTCTTAGAA	0.468																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(781-783)cgT>cgC		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						117.0	115.0	116.0					18																	21330980		1887	4118	6005	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21330980T>C	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.783T>C	18.37:g.21330980T>C			Somatic				LAMA3_ENST00000399516.3_Silent_p.R261R	p.R261R	NM_198129.1	NP_937762.1	WXS	Illumina GAIIx	Phase_I	Q16787	LAMA3_HUMAN			5	1024	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		261			Laminin N-terminal.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.783T>C	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	T	8.895	0.955053	0.18507	.	.	ENSG00000053747	ENST00000416669	.	.	.	5.64	1.39	0.22231	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9699	0.24642	0.0:0.0889:0.2753:0.6358	.	.	.	.	.	-1	.	.	.	+	.	.	LAMA3	19584978	0.828000	0.29307	0.998000	0.56505	0.716000	0.41182	-0.108000	0.10857	-0.006000	0.14370	-0.313000	0.08912	.		0.468	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		4	98	4	98	---	---	---	---
DUS3L	56931	broad.mit.edu	37	19	5790154	5790154	+	Silent	SNP	T	T	C			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr19:5790154T>C	ENST00000309061.7	-	2	387	c.291A>G	c.(289-291)ctA>ctG	p.L97L	DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	97							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TCTGAGTCTGTAGCTGCTCCC	0.627																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(289-291)ctA>ctG		dihydrouridine synthase 3-like (S. cerevisiae)							72.0	73.0	73.0					19																	5790154		2203	4300	6503	SO:0001819	synonymous_variant	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5790154T>C		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.291A>G	19.37:g.5790154T>C			Somatic				DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	p.L97L	NM_020175.2	NP_064560.2	WXS	Illumina GAIIx	Phase_I	Q96G46	DUS3L_HUMAN			2	387	-			97					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Silent	SNP	ENST00000309061.7	37	c.291A>G	CCDS32880.1																																																																																				0.627	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		15	37	15	37	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20937036	20937036	+	Splice_Site	SNP	T	T	A			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr22:20937036T>A	ENST00000263205.7	+	10	1478		c.e10+2		MED15_ENST00000541476.1_Splice_Site|MED15_ENST00000406969.1_Splice_Site|MED15_ENST00000292733.7_Splice_Site|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Splice_Site|MED15_ENST00000478831.1_Intron|MED15_ENST00000382974.2_Splice_Site	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15						gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAACGTCAGGTAGGCCTGGCC	0.716																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.e10+2		mediator complex subunit 15							33.0	41.0	38.0					22																	20937036		2197	4294	6491	SO:0001630	splice_region_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20937036T>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1409+2T>A	22.37:g.20937036T>A			Somatic				MED15_ENST00000541476.1_Splice_Site|MED15_ENST00000478831.1_Intron|MED15_ENST00000406969.1_Splice_Site|MED15_ENST00000542773.1_Intron|MED15_ENST00000382974.2_Splice_Site|MED15_ENST00000425759.2_Splice_Site|MED15_ENST00000292733.7_Splice_Site		NM_001003891.1	NP_001003891.1	WXS	Illumina GAIIx	Phase_I	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		10	1478	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)						D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Splice_Site	SNP	ENST00000263205.7	37		CCDS33602.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077809	0.76528	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5229	0.61578	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MED15	19267036	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.672000	0.68102	2.080000	0.62538	0.459000	0.35465	.		0.716	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889	Intron	4	38	4	38	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64498862	64498862	+	RNA	DEL	G	G	-			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr7:64498862delG	ENST00000426828.1	+	0	125					NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CATGTGGAGAGGCAGAAGGAG	0.687																																						ENST00000426828.1																			0																																																			643180							g.chr7:64498862delG			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64498862delG			Somatic						NR_033416.1		WXS	Illumina GAIIx	Phase_I					0	125	+									RNA	DEL	ENST00000426828.1	37																																																																																						0.687	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			2	4	2	4	---	---	---	---
NPDC1	56654	broad.mit.edu	37	9	139935547	139935547	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J4-A83M-01A-11D-A34U-08	TCGA-J4-A83M-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9da3aab7-ebaa-437d-baab-a11571b586d6	a57c0f87-eec2-4a38-998d-294959df3d34	g.chr9:139935547delG	ENST00000371601.4	-	3	565	c.352delC	c.(352-354)ctafs	p.L118fs	NPDC1_ENST00000488145.1_5'UTR|NPDC1_ENST00000371600.3_Frame_Shift_Del_p.L196fs	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	118						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TCCTTGGGTAGGGGCGGAGTT	0.672																																						ENST00000371600.3																			0				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(586-588)ctafs		neural proliferation, differentiation and control, 1							36.0	37.0	37.0					9																	139935547		2194	4296	6490	SO:0001589	frameshift_variant	56654					integral to membrane		g.chr9:139935547delG	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.352delC	9.37:g.139935547delG	ENSP00000360660:p.Leu118fs		Somatic				NPDC1_ENST00000371601.4_Frame_Shift_Del_p.L118fs|NPDC1_ENST00000488145.1_5'UTR	p.L196fs			WXS	Illumina GAIIx	Phase_I	Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	1258	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	118					Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Frame_Shift_Del	DEL	ENST00000371601.4	37	c.586delC	CCDS7024.1																																																																																				0.672	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1	NM_015392		2	4	2	4	---	---	---	---
