#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn					TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		3	32	0	0	0	1	0	3	32				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			201283							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		6	73	0	0	0	1	0	6	73				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	47	0	0	0	1	0	4	47				
PPP6C	5537	broad.mit.edu	37	9	127915922	127915922	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr9:127915922G>A	ENST00000373547.4	-	6	658	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	PPP6C_ENST00000415905.1_Missense_Mutation_p.H165Y|PPP6C_ENST00000373546.3_Missense_Mutation_p.H40Y|PPP6C_ENST00000451402.1_Missense_Mutation_p.H224Y	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	187					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GCTCCTTTATGAGGAATTTCC	0.438																																						ENST00000451402.1																			0				NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						c.(670-672)Cat>Tat		protein phosphatase 6, catalytic subunit							91.0	81.0	85.0					9																	127915922		2203	4300	6503	SO:0001583	missense	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127915922G>A	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.559C>T	9.37:g.127915922G>A	ENSP00000362648:p.His187Tyr					PPP6C_ENST00000415905.1_Missense_Mutation_p.H165Y|PPP6C_ENST00000373546.3_Missense_Mutation_p.H40Y|PPP6C_ENST00000373547.4_Missense_Mutation_p.H187Y	p.H224Y	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN			7	890	-			187					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	c.670C>T	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798326	0.70567	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.76	5.76	0.90799	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.63593	0.2524	M	0.87547	2.89	0.80722	D	1	B;B;B	0.18013	0.01;0.002;0.025	B;B;B	0.22753	0.041;0.005;0.028	T	0.64347	-0.6429	10	0.72032	D	0.01	-20.0968	18.9632	0.92684	0.0:0.0:1.0:0.0	.	165;224;187	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	Y	187;224;165;40	ENSP00000362648:H187Y;ENSP00000392147:H224Y;ENSP00000411744:H165Y;ENSP00000362647:H40Y	ENSP00000362647:H40Y	H	-	1	0	PPP6C	126955743	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.421000	0.97455	2.724000	0.93272	0.585000	0.79938	CAT		0.438	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		4	48	0	0	0	1	0	4	48				
USP9X	8239	broad.mit.edu	37	X	40990708	40990708	+	Splice_Site	SNP	A	A	G			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chrX:40990708A>G	ENST00000324545.8	+	4	875		c.e4-1		USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAAAACTTTTAGGCCTCGATG	0.323																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.e4-1		ubiquitin specific peptidase 9, X-linked							125.0	118.0	120.0					X																	40990708		2203	4300	6503	SO:0001630	splice_region_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:40990708A>G	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.243-1A>G	X.37:g.40990708A>G						USP9X_ENST00000378308.2_Splice_Site		NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			4	875	+								O75550|Q8WWT3|Q8WX12	Splice_Site	SNP	ENST00000324545.8	37		CCDS43930.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874910	0.72180	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1419	0.65325	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	USP9X	40875652	1.000000	0.71417	0.962000	0.40283	0.910000	0.53928	8.927000	0.92846	1.786000	0.52430	0.486000	0.48141	.		0.323	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652	Intron	3	45	0	0	0	1	0	3	45				
TRIM17	51127	broad.mit.edu	37	1	228596776	228596776	+	Intron	SNP	G	G	C			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr1:228596776G>C	ENST00000366697.2	-	5	1840				RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Missense_Mutation_p.S327C|TRIM17_ENST00000366698.2_Intron|TRIM11_ENST00000366699.3_5'Flank|TRIM17_ENST00000295033.3_Intron|TRIM11_ENST00000284551.6_5'Flank			Q9Y577	TRI17_HUMAN	tripartite motif containing 17						protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TGCACTTGTAGAACCCCCCCC	0.572																																						ENST00000456946.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10						c.(979-981)tCt>tGt		tripartite motif containing 17							61.0	73.0	70.0					1																	228596776		692	1591	2283	SO:0001627	intron_variant	51127				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:228596776G>C	AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.883+96C>G	1.37:g.228596776G>C						RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000295033.3_Intron	p.S327C	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN			6	1355	-		Prostate(94;0.0724)	0			B30.2/SPRY.		B4DVJ2|Q5VST8	Missense_Mutation	SNP	ENST00000366697.2	37	c.980C>G	CCDS1571.1	.	.	.	.	.	.	.	.	.	.	G	3.137	-0.177217	0.06380	.	.	ENSG00000162931	ENST00000456946	T	0.37584	1.19	1.32	1.32	0.21799	.	.	.	.	.	T	0.14356	0.0347	N	0.08118	0	0.09310	N	1	D	0.55605	0.972	B	0.37601	0.254	T	0.07252	-1.0782	9	0.31617	T	0.26	.	6.0414	0.19736	0.0:0.0:1.0:0.0	.	327	Q9Y577-2	.	C	327	ENSP00000403312:S327C	ENSP00000403312:S327C	S	-	2	0	TRIM17	226663399	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.180000	0.09754	1.042000	0.40150	0.655000	0.94253	TCT		0.572	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096439.2	NM_016102		9	22	0	0	0	1	0	9	22				
TTN	7273	broad.mit.edu	37	2	179455982	179455982	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr2:179455982G>T	ENST00000591111.1	-	254	55771	c.55547C>A	c.(55546-55548)gCc>gAc	p.A18516D	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11284D|TTN_ENST00000359218.5_Missense_Mutation_p.A11217D|TTN_ENST00000460472.2_Missense_Mutation_p.A11092D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A20157D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17589D|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18516	Ig-like 106.				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)			TTTGCTACCGGCTGCATTGGA	0.423																																						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.(60469-60471)gCc>gAc		titin							236.0	240.0	239.0					2																	179455982		1914	4134	6048	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455982G>T	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.55547C>A	2.37:g.179455982G>T	ENSP00000465570:p.Ala18516Asp					TTN_ENST00000591111.1_Missense_Mutation_p.A18516D|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11217D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A11092D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17589D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11284D|TTN-AS1_ENST00000590807.1_RNA	p.A20157D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	60694	-			18516			Fibronectin type-III 46.		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.60470C>A		.	.	.	.	.	.	.	.	.	.	G	11.98	1.799657	0.31869	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	6.11	6.11	0.99139	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84844	0.5562	M	0.91354	3.2	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.70487	0.969;0.969;0.969;0.969	D	0.87287	0.2296	9	0.87932	D	0	.	14.832	0.70156	0.0681:0.0:0.9319:0.0	.	11092;11217;11284;18516	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	17589;11092;11284;11217;11090	ENSP00000343764:A17589D;ENSP00000434586:A11092D;ENSP00000340554:A11284D;ENSP00000352154:A11217D	ENSP00000340554:A11284D	A	-	2	0	TTN	179164228	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.029000	0.88807	2.906000	0.99361	0.655000	0.94253	GCC		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	163	1	0	1	1	1	4	163				
DMKN	93099	broad.mit.edu	37	19	36004008	36004008	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr19:36004008C>T	ENST00000339686.3	-	1	546	c.370G>A	c.(370-372)Gga>Aga	p.G124R	DMKN_ENST00000447113.2_Missense_Mutation_p.G124R|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.G124R|DMKN_ENST00000419602.1_Missense_Mutation_p.G124R|DMKN_ENST00000424570.2_Missense_Mutation_p.G124R|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.G124R|DMKN_ENST00000429837.1_Missense_Mutation_p.G124R|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.G124R|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000602781.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	124	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCATCTGCTCCGTGTCGAATG	0.617																																						ENST00000339686.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27						c.(370-372)Gga>Aga		dermokine							103.0	96.0	98.0					19																	36004008		2203	4300	6503	SO:0001583	missense	93099					extracellular region		g.chr19:36004008C>T	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.370G>A	19.37:g.36004008C>T	ENSP00000342012:p.Gly124Arg					DMKN_ENST00000418261.1_Missense_Mutation_p.G124R|DMKN_ENST00000429837.1_Missense_Mutation_p.G124R|DMKN_ENST00000447113.2_Missense_Mutation_p.G124R|DMKN_ENST00000451297.2_Missense_Mutation_p.G124R|DMKN_ENST00000424570.2_Missense_Mutation_p.G124R|DMKN_ENST00000440396.1_Missense_Mutation_p.G124R|DMKN_ENST00000419602.1_Missense_Mutation_p.G124R	p.G124R	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	546	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		124			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	c.370G>A	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	T	11.35	1.611585	0.28712	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.55052	1.25;1.09;1.03;0.54;0.62;0.66;0.66;0.73	4.38	3.34	0.38264	.	0.226724	0.22661	N	0.057193	T	0.50786	0.1636	M	0.65975	2.015	0.09310	N	1	B;B;B;B;B;B;B	0.33135	0.039;0.119;0.119;0.039;0.399;0.399;0.271	B;B;B;B;B;B;B	0.32980	0.063;0.016;0.028;0.063;0.156;0.156;0.156	T	0.42085	-0.9472	10	0.44086	T	0.13	-2.1229	12.9631	0.58470	0.0:0.9093:0.0:0.0907	.	124;124;124;124;124;124;124	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	R	124	ENSP00000342012:G124R;ENSP00000405503:G124R;ENSP00000391036:G124R;ENSP00000394908:G124R;ENSP00000415277:G124R;ENSP00000414743:G124R;ENSP00000388404:G124R;ENSP00000409513:G124R	ENSP00000342012:G124R	G	-	1	0	DMKN	40695848	0.042000	0.20092	0.001000	0.08648	0.004000	0.04260	1.479000	0.35453	0.515000	0.28320	-1.314000	0.01303	GGA		0.617	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		8	9	0	0	0	1	0	8	9				
SORBS1	10580	broad.mit.edu	37	10	97131803	97131803	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr10:97131803G>A	ENST00000361941.3	-	18	1767	c.1741C>T	c.(1741-1743)Ccc>Tcc	p.P581S	SORBS1_ENST00000393949.1_Missense_Mutation_p.P551S|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.P551S|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371245.3_Missense_Mutation_p.P466S|SORBS1_ENST00000371246.2_Missense_Mutation_p.P603S|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.P603S|SORBS1_ENST00000371227.4_Missense_Mutation_p.P535S|SORBS1_ENST00000371247.2_Missense_Mutation_p.P581S|SORBS1_ENST00000353505.5_Missense_Mutation_p.P466S	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATCTTTTTGGGAGGCTGACGG	0.478																																						ENST00000371247.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1741-1743)Ccc>Tcc		sorbin and SH3 domain containing 1							85.0	82.0	83.0					10																	97131803		2203	4300	6503	SO:0001583	missense	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97131803G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1741C>T	10.37:g.97131803G>A	ENSP00000355136:p.Pro581Ser					SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Missense_Mutation_p.P551S|SORBS1_ENST00000354106.3_Missense_Mutation_p.P551S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.P603S|SORBS1_ENST00000277982.5_Missense_Mutation_p.P603S|SORBS1_ENST00000371227.4_Missense_Mutation_p.P535S|SORBS1_ENST00000371245.3_Missense_Mutation_p.P466S|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P581S|SORBS1_ENST00000353505.5_Missense_Mutation_p.P466S|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371239.1_Intron	p.P581S			Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	20	1930	-		Colorectal(252;0.0429)	581						Missense_Mutation	SNP	ENST00000361941.3	37	c.1741C>T	CCDS31255.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378033	0.82682	.	.	ENSG00000095637	ENST00000371245;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000361941;ENST00000277982;ENST00000354106	T;T;T;T;T;T;T;T;T	0.39997	1.05;3.09;3.06;3.41;2.93;1.05;3.09;3.41;2.93	5.69	5.69	0.88448	.	0.000000	0.38837	N	0.001554	T	0.54095	0.1837	N	0.20986	0.625	0.80722	D	1	P;D;P;D;P	0.89917	0.734;0.999;0.911;1.0;0.577	B;D;B;D;B	0.85130	0.421;0.994;0.433;0.997;0.187	T	0.57015	-0.7883	10	0.62326	D	0.03	-13.6127	19.7999	0.96502	0.0:0.0:1.0:0.0	.	535;466;581;603;551	Q9BX66-11;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-5	.;.;SRBS1_HUMAN;.;.	S	466;581;535;603;551;466;581;603;551	ENSP00000360291:P466S;ENSP00000360293:P581S;ENSP00000360271:P535S;ENSP00000360292:P603S;ENSP00000377521:P551S;ENSP00000343998:P466S;ENSP00000355136:P581S;ENSP00000277982:P603S;ENSP00000277984:P551S	ENSP00000277982:P603S	P	-	1	0	SORBS1	97121793	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.523000	0.90576	2.691000	0.91804	0.561000	0.74099	CCC		0.478	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			8	13	0	0	0	1	0	8	13				
MYH8	4626	broad.mit.edu	37	17	10305000	10305000	+	Missense_Mutation	SNP	C	C	T	rs142137577		TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr17:10305000C>T	ENST00000403437.2	-	23	2885	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	931					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTTCCTCCTCCTCAGCTCTT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(2791-2793)Gag>Aag		myosin, heavy chain 8, skeletal muscle, perinatal		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	352.0	338.0	343.0		2791	5.3	1.0	17	dbSNP_134	343	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MYH8	NM_002472.2	56	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	931/1938	10305000	4,13002	2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10305000C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2791G>A	17.37:g.10305000C>T	ENSP00000384330:p.Glu931Lys					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.E931K	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			23	2885	-			931					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2791G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881598	0.72294	2.27E-4	3.49E-4	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.94793	-3.52	5.31	5.31	0.75309	.	0.158984	0.28521	U	0.015045	D	0.95708	0.8604	M	0.87758	2.905	0.45867	D	0.998726	B	0.27166	0.17	B	0.33121	0.158	D	0.94593	0.7789	10	0.87932	D	0	.	19.1814	0.93625	0.0:1.0:0.0:0.0	.	931	P13535	MYH8_HUMAN	K	931	ENSP00000384330:E931K	ENSP00000252173:E931K	E	-	1	0	MYH8	10245725	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.609000	0.82925	2.779000	0.95612	0.591000	0.81541	GAG		0.438	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		7	90	0	0	0	1	0	7	90				
SYNE2	23224	broad.mit.edu	37	14	64685207	64685207	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr14:64685207C>T	ENST00000344113.4	+	108	19777	c.19565C>T	c.(19564-19566)gCc>gTc	p.A6522V	SYNE2_ENST00000357395.3_Missense_Mutation_p.A2907V|SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554584.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6522					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGGGACTGGCCGGTATCACA	0.527																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8719-8721)gCc>gTc		spectrin repeat containing, nuclear envelope 2							60.0	63.0	62.0					14																	64685207		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64685207C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19565C>T	14.37:g.64685207C>T	ENSP00000341781:p.Ala6522Val					SYNE2_ENST00000554584.1_Intron|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.A2907V|SYNE2_ENST00000358025.3_Missense_Mutation_p.A6545V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A3179V|SYNE2_ENST00000344113.4_Missense_Mutation_p.A6522V|SYNE2_ENST00000555022.1_Missense_Mutation_p.A400V|SYNE2_ENST00000554805.1_Missense_Mutation_p.A305V|SYNE2_ENST00000458046.2_Missense_Mutation_p.A179V|SYNE2_ENST00000441438.2_Missense_Mutation_p.A53V	p.A2907V			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	109	19864	+			6522					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8720C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028348	0.35797	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T	0.47177	0.86;4.09;0.85;4.15;4.09;3.72;3.25;2.92;2.74	4.83	4.83	0.62350	.	0.300803	0.23782	N	0.044608	T	0.42743	0.1216	L	0.55481	1.735	0.80722	D	1	B;B;B;B;B;B;P	0.38048	0.03;0.03;0.107;0.107;0.009;0.192;0.616	B;B;B;B;B;B;B	0.34824	0.01;0.033;0.061;0.023;0.01;0.082;0.19	T	0.45833	-0.9234	10	0.51188	T	0.08	.	13.2847	0.60237	0.0:1.0:0.0:0.0	.	179;2907;53;179;910;6522;6545	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;Q8WXH0;Q8WXH0-2	.;.;.;.;.;SYNE2_HUMAN;.	V	6545;2907;6522;3179;2907;400;305;179;53	ENSP00000350719:A6545V;ENSP00000349969:A2907V;ENSP00000341781:A6522V;ENSP00000450831:A3179V;ENSP00000378249:A2907V;ENSP00000451009:A400V;ENSP00000450605:A305V;ENSP00000391937:A179V;ENSP00000396794:A53V	ENSP00000341781:A6522V	A	+	2	0	SYNE2	63754960	0.417000	0.25432	0.013000	0.15412	0.004000	0.04260	1.003000	0.29809	2.489000	0.83994	0.561000	0.74099	GCC		0.527	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		3	11	0	0	0	1	0	3	11				
MEFV	4210	broad.mit.edu	37	16	3306389	3306389	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr16:3306389C>T	ENST00000219596.1	-	1	238	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	MEFV_ENST00000541159.1_Missense_Mutation_p.V67M|MEFV_ENST00000536379.1_Missense_Mutation_p.V67M|MEFV_ENST00000339854.4_Missense_Mutation_p.V67M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	67	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GTGAGCTGCACGGCGTACTCT	0.657																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(199-201)Gtg>Atg		Mediterranean fever	Colchicine(DB01394)						63.0	63.0	63.0					16																	3306389		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3306389C>T	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.199G>A	16.37:g.3306389C>T	ENSP00000219596:p.Val67Met					MEFV_ENST00000541159.1_Missense_Mutation_p.V67M|MEFV_ENST00000536379.1_Missense_Mutation_p.V67M|MEFV_ENST00000339854.4_Missense_Mutation_p.V67M	p.V67M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			1	238	-			67			DAPIN.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.199G>A	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136955	0.37728	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.98	2.99	0.34606	Pyrin (2);DEATH-like (2);	0.497561	0.17055	N	0.188761	T	0.66257	0.2771	M	0.83953	2.67	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55939	-0.8061	10	0.87932	D	0	-22.6148	6.3171	0.21196	0.0:0.6907:0.1511:0.1582	.	67	O15553	MEFV_HUMAN	M	67	ENSP00000219596:V67M;ENSP00000339639:V67M;ENSP00000438711:V67M;ENSP00000445079:V67M	ENSP00000219596:V67M	V	-	1	0	MEFV	3246390	0.001000	0.12720	0.003000	0.11579	0.172000	0.22775	0.368000	0.20399	0.430000	0.26230	0.591000	0.81541	GTG		0.657	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		15	39	0	0	0	1	0	15	39				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	29	0	0	0	1	0	4	29				
CRIM1	51232	broad.mit.edu	37	2	36583501	36583503	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr2:36583501_36583503delGCT	ENST00000280527.2	+	1	433_435	c.66_68delGCT	c.(64-69)gggctg>ggg	p.L27del	RP11-490M8.1_ENST00000565283.1_lincRNA	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	27					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CGCTGCTGGGGCTGCTGCTGCTG	0.734																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(64-69)ggg>gg		cysteine rich transmembrane BMP regulator 1 (chordin-like)				89,3815		5,79,1868						0.6	1.0			9	194,7436		1,192,3622	no	coding	CRIM1	NM_016441.2		6,271,5490	A1A1,A1R,RR		2.5426,2.2797,2.4536				283,11251				SO:0001651	inframe_deletion	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36583501_36583503delGCT	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.66_68delGCT	2.37:g.36583510_36583512delGCT	ENSP00000280527:p.Leu27del						p.GL22del	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			1	433_435	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	22					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	In_Frame_Del	DEL	ENST00000280527.2	37	c.66_68delGCT	CCDS1783.1																																																																																				0.734	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		2	4						2	4	---	---	---	---
LINC00971	440970	broad.mit.edu	37	3	84741480	84741480	+	lincRNA	DEL	A	A	-	rs71104976		TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1				long intergenic non-protein coding RNA 971																		CCTGTCCCAGAAAAAAAAAAA	0.388																																						ENST00000484892.1																			0																																																			440970							g.chr3:84741480delA			3p12.1	2013-06-07			ENSG00000242641	ENSG00000242641		"""Long non-coding RNAs"""	48737	non-coding RNA	RNA, long non-coding							Standard	NR_033860		Approved				OTTHUMG00000158981		3.37:g.84741480delA								NR_033860.1						0	2354	-									RNA	DEL	ENST00000484892.1	37																																																																																						0.388	LINC00971-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000352776.2			5	1						5	1	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708854	180708854	+	lincRNA	DEL	A	A	-	rs60396213|rs57773684		TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr5:180708854delA	ENST00000412295.2	+	0	238																											GAGCGGTAGGAGGGGGGCTGG	0.692																																						ENST00000412295.2																			0																																																			0							g.chr5:180708854delA																													5.37:g.180708854delA														0	238	+									RNA	DEL	ENST00000412295.2	37																																																																																						0.692	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			2	4						2	4	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-	rs564902644	byFrequency	TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr7:65222951delT	ENST00000442266.1	+	0	561				SNORA22_ENST00000383907.1_RNA|SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		TTTCTGTAACTTTTTTTTTTT	0.323													|||unknown(NO_COVERAGE)	42	0.00838658	0.0159	0.0014	5008	,	,		17660	0.004		0.005	False		,,,				2504	0.0112					ENST00000442266.1																			0																																																			643253							g.chr7:65222951delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222951delT														0	561	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.323	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	3						3	3	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29667527	29667528	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chr17:29667527_29667528delCG	ENST00000358273.4	+	47	7309_7310	c.6926_6927delCG	c.(6925-6927)tcgfs	p.S2309fs	NF1_ENST00000417592.2_Frame_Shift_Del_p.S22fs|NF1_ENST00000444181.2_Frame_Shift_Del_p.S102fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.S2288fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2309					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.S2309S(1)|p.P2310fs*11(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCCAGGACTCGCCTCTGCACA	0.441			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(3)|Substitution - coding silent(1)|Insertion - Frameshift(1)	p.0?(8)|p.?(3)|p.S2309S(1)|p.P2310fs*11(1)	soft_tissue(7)|autonomic_ganglia(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(6925-6927)tfs		neurofibromin 1																																				SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29667527_29667528delCG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6926_6927delCG	17.37:g.29667527_29667528delCG	ENSP00000351015:p.Ser2309fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000444181.2_Frame_Shift_Del_p.S102fs|NF1_ENST00000417592.2_Frame_Shift_Del_p.S22fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.S2288fs	p.S2309fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	47	7309_7310	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2309					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.6926_6927delCG	CCDS42292.1																																																																																				0.441	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		13	16						13	16	---	---	---	---
DCAF8L2	347442	broad.mit.edu	37	X	27765849	27765849	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chrX:27765849delC	ENST00000451261.2	+	5	1236	c.837delC	c.(835-837)ttcfs	p.F279fs		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	279										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGGCCAAGTTCCTTCCTAACT	0.478																																						ENST00000451261.2																			0				central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						c.(835-837)ttfs		DDB1 and CUL4 associated factor 8-like 2							173.0	133.0	145.0					X																	27765849		692	1591	2283	SO:0001589	frameshift_variant	347442							g.chrX:27765849delC		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.837delC	X.37:g.27765849delC	ENSP00000462745:p.Phe279fs						p.F279fs	NM_001136533.1	NP_001130005.1					5	1236	+								B2RXH9|J3KT06	Frame_Shift_Del	DEL	ENST00000451261.2	37	c.837delC	CCDS59162.1																																																																																				0.478	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		2	4						2	4	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-WB-A818-01A-11D-A35I-08	TCGA-WB-A818-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7355d186-edf1-45b3-8bcb-e40b816c81a3	2855592e-7b25-451c-a8a0-08cc0099642c	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	3						4	3	---	---	---	---
