#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
ESPNP	284729	broad.mit.edu	37	1	17017774	17017774	+	RNA	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:17017774G>A	ENST00000492551.1	-	0	1953					NR_026567.1				espin pseudogene																		CTGGCCAGCCGGGCCTCCTCC	0.662																																						ENST00000492551.1																			0																																																			284729							g.chr1:17017774G>A	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17017774G>A			Somatic						NR_026567.1		WXS	Illumina GAIIx	Phase_I					0	1953	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.662	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	7	3	7	---	---	---	---
TMEM50A	23585	broad.mit.edu	37	1	25679432	25679432	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:25679432A>G	ENST00000374358.4	+	5	887	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	TMEM50A_ENST00000480937.1_Intron	NM_014313.3	NP_055128.1	O95807	TM50A_HUMAN	transmembrane protein 50A	112						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		GATTGCATCTATGTGGATTCT	0.343																																						ENST00000374358.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						c.(334-336)Atg>Gtg		transmembrane protein 50A							165.0	158.0	160.0					1																	25679432		2203	4300	6503	SO:0001583	missense	23585					endoplasmic reticulum|integral to membrane		g.chr1:25679432A>G	AY071927	CCDS264.1	1p36.11	2008-02-05			ENSG00000183726	ENSG00000183726			30590	protein-coding gene	gene with protein product	"""small membrane protein 1"""	605348				10938938, 10845894	Standard	NM_014313		Approved	SMP1	uc001bke.3	O95807	OTTHUMG00000007651	ENST00000374358.4:c.334A>G	1.37:g.25679432A>G	ENSP00000363478:p.Met112Val		Somatic				TMEM50A_ENST00000480937.1_Intron	p.M112V	NM_014313.3	NP_055128.1	WXS	Illumina GAIIx	Phase_I	O95807	TM50A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)	5	887	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	112						Missense_Mutation	SNP	ENST00000374358.4	37	c.334A>G	CCDS264.1	.	.	.	.	.	.	.	.	.	.	A	8.716	0.913243	0.17907	.	.	ENSG00000183726	ENST00000374358	T	0.26957	1.7	5.83	4.66	0.58398	.	0.033413	0.85682	D	0.000000	T	0.15782	0.0380	L	0.31420	0.93	0.58432	D	0.999997	B	0.10296	0.003	B	0.16722	0.016	T	0.04537	-1.0944	10	0.02654	T	1	-5.3697	11.3583	0.49627	0.8646:0.0:0.0:0.1354	.	112	O95807	TM50A_HUMAN	V	112	ENSP00000363478:M112V	ENSP00000363478:M112V	M	+	1	0	TMEM50A	25552019	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.471000	0.73562	2.228000	0.72767	0.456000	0.33151	ATG		0.343	TMEM50A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020313.1			28	51	28	51	---	---	---	---
CD5L	922	broad.mit.edu	37	1	157805768	157805768	+	Nonsense_Mutation	SNP	A	A	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr1:157805768A>T	ENST00000368174.4	-	3	329	c.233T>A	c.(232-234)tTg>tAg	p.L78*	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	78	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGGCTCATACAAAATACCACT	0.527																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(232-234)tTg>tAg		CD5 molecule-like							199.0	207.0	204.0					1																	157805768		2203	4300	6503	SO:0001587	stop_gained	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805768A>T	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.233T>A	1.37:g.157805768A>T	ENSP00000357156:p.Leu78*		Somatic				CD5L_ENST00000484609.1_5'UTR	p.L78*	NM_005894.2	NP_005885.1	WXS	Illumina GAIIx	Phase_I	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	329	-	all_hematologic(112;0.0378)		78			SRCR 1.		A8K7M5|Q6UX63	Nonsense_Mutation	SNP	ENST00000368174.4	37	c.233T>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.687226	0.29962	.	.	ENSG00000073754	ENST00000368174	.	.	.	4.85	-5.11	0.02901	.	2.589170	0.01599	N	0.021924	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	5.3127	0.15839	0.2624:0.0:0.4538:0.2839	.	.	.	.	X	78	.	ENSP00000357156:L78X	L	-	2	0	CD5L	156072392	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.894000	0.04123	-1.318000	0.02289	-0.371000	0.07208	TTG		0.527	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		18	141	18	141	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60688671	60688671	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:60688671G>A	ENST00000335712.6	-	4	1603	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Missense_Mutation_p.A128V|BCL11A_ENST00000538214.1_Missense_Mutation_p.A425V|BCL11A_ENST00000356842.4_Missense_Mutation_p.A459V|BCL11A_ENST00000358510.4_Missense_Mutation_p.A425V	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	459					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGCGCTGCTGGCGCTGCCCAC	0.647			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1375-1377)gCc>gTc		B-cell CLL/lymphoma 11A (zinc finger protein)							34.0	36.0	35.0					2																	60688671		2202	4300	6502	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688671G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1376C>T	2.37:g.60688671G>A	ENSP00000338774:p.Ala459Val		Somatic				BCL11A_ENST00000537768.1_Missense_Mutation_p.A128V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.A459V|BCL11A_ENST00000538214.1_Missense_Mutation_p.A425V|BCL11A_ENST00000358510.4_Missense_Mutation_p.A425V|BCL11A_ENST00000359629.5_Intron	p.A459V	NM_022893.3	NP_075044.2	WXS	Illumina GAIIx	Phase_I	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1603	-			459					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1376C>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854989	0.51376	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09538	2.97;3.25;3.15;3.25;3.18	5.27	5.27	0.74061	.	0.000000	0.52532	D	0.000078	T	0.31263	0.0791	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.69078	0.996;0.993;0.996;0.969;0.997	D;D;D;P;D	0.77557	0.99;0.935;0.971;0.787;0.985	T	0.00785	-1.1567	10	0.46703	T	0.11	-1.7617	18.9015	0.92444	0.0:0.0:1.0:0.0	.	425;128;425;459;459	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	V	459;495;425;128;459;425	ENSP00000349300:A459V;ENSP00000438303:A425V;ENSP00000443712:A128V;ENSP00000338774:A459V;ENSP00000351307:A425V	ENSP00000338774:A459V	A	-	2	0	BCL11A	60542175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.461000	0.83175	0.655000	0.94253	GCC		0.647	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		13	18	13	18	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89100664	89100664	+	RNA	SNP	C	C	G			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:89100664C>G	ENST00000393525.3	+	0	1138									ankyrin repeat domain 36B pseudogene 2																		AAAGGCAATACTTAATATTCA	0.363																																						ENST00000393525.3																			0																																																			645784							g.chr2:89100664C>G			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89100664C>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	1138	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.363	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			26	89	26	89	---	---	---	---
IGKV1-27	28935	broad.mit.edu	37	2	89512999	89512999	+	RNA	SNP	C	C	G			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:89512999C>G	ENST00000498435.1	-	0	290									immunoglobulin kappa variable 1-27																		CCCAGATCCACTGCCACTGAA	0.488																																						ENST00000498435.1																			0																				113.0	105.0	108.0					2																	89512999		1886	4114	6000			28935							g.chr2:89512999C>G	X63398		2p11.2	2012-02-10			ENSG00000244575	ENSG00000244575		"""Immunoglobulins / IGK locus"""	5735	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV127, A20			OTTHUMG00000151640		2.37:g.89512999C>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	290	-									RNA	SNP	ENST00000498435.1	37																																																																																						0.488	IGKV1-27-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323389.1	NG_000834		5	66	5	66	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141458086	141458086	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:141458086C>A	ENST00000389484.3	-	41	7503	c.6532G>T	c.(6532-6534)Gat>Tat	p.D2178Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2178	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAACTCCATCTTCTGCCAAA	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(6532-6534)Gat>Tat		low density lipoprotein receptor-related protein 1B							97.0	98.0	98.0					2																	141458086		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141458086C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6532G>T	2.37:g.141458086C>A	ENSP00000374135:p.Asp2178Tyr	TSP Lung(27;0.18)	Somatic					p.D2178Y	NM_018557.2	NP_061027.2	WXS	Illumina GAIIx	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	41	7503	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2178			EGF-like 5.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6532G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499048	0.64298	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96716	-4.1	4.47	4.47	0.54385	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.000000	0.64402	U	0.000001	D	0.98327	0.9445	H	0.97240	3.965	0.51482	D	0.999928	D	0.58970	0.984	P	0.57371	0.819	D	0.98860	1.0762	10	0.87932	D	0	.	11.0967	0.48147	0.0:0.9132:0.0:0.0867	.	2178	Q9NZR2	LRP1B_HUMAN	Y	2178;2116	ENSP00000374135:D2178Y	ENSP00000374135:D2178Y	D	-	1	0	LRP1B	141174556	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.848000	0.62874	2.176000	0.68965	0.585000	0.79938	GAT		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		32	89	32	89	---	---	---	---
G6PC2	57818	broad.mit.edu	37	2	169758016	169758016	+	Missense_Mutation	SNP	T	T	C	rs369755574		TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:169758016T>C	ENST00000375363.3	+	1	267	c.175T>C	c.(175-177)Tgg>Cgg	p.W59R	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000421979.1_Missense_Mutation_p.W59R|G6PC2_ENST00000429379.2_Missense_Mutation_p.W59R	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	59					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						CAAGATGATATGGGTAGCAGT	0.294																																						ENST00000375363.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						c.(175-177)Tgg>Cgg		glucose-6-phosphatase, catalytic, 2		T	ARG/TRP,ARG/TRP	1,4405	2.1+/-5.4	0,1,2202	75.0	77.0	76.0		175,175	4.5	1.0	2		76	0,8600		0,0,4300	no	missense,missense	G6PC2	NM_001081686.1,NM_021176.2	101,101	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign	59/155,59/356	169758016	1,13005	2203	4300	6503	SO:0001583	missense	57818				gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity	g.chr2:169758016T>C	AF283575	CCDS2230.1, CCDS46443.1	2q24-q31	2008-02-05			ENSG00000152254	ENSG00000152254			28906	protein-coding gene	gene with protein product	"""islet specific glucose 6 phosphatase catalytic subunit related protein"""	608058				10078553, 10078554	Standard	NM_021176		Approved	IGRP	uc002uem.3	Q9NQR9	OTTHUMG00000132182	ENST00000375363.3:c.175T>C	2.37:g.169758016T>C	ENSP00000364512:p.Trp59Arg		Somatic				G6PC2_ENST00000429379.2_Missense_Mutation_p.W59R|G6PC2_ENST00000421979.1_Missense_Mutation_p.W59R|SPC25_ENST00000472216.2_Intron	p.W59R	NM_021176.2	NP_066999.1	WXS	Illumina GAIIx	Phase_I	Q9NQR9	G6PC2_HUMAN			1	267	+			59					E9PAX2|Q6AHZ0	Missense_Mutation	SNP	ENST00000375363.3	37	c.175T>C	CCDS2230.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301466	0.40694	2.27E-4	0.0	ENSG00000152254	ENST00000375363;ENST00000429379;ENST00000421979	T;T;D	0.86164	-0.83;-0.83;-2.08	5.62	4.46	0.54185	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.88923	0.6569	M	0.86178	2.8	0.47862	D	0.999532	B;B	0.22909	0.077;0.077	B;B	0.31812	0.136;0.136	D	0.86416	0.1751	10	0.66056	D	0.02	-0.8504	11.6323	0.51183	0.0:0.07:0.0:0.93	.	59;59	E9PAX2;Q9NQR9	.;G6PC2_HUMAN	R	59	ENSP00000364512:W59R;ENSP00000396939:W59R;ENSP00000392183:W59R	ENSP00000282075:W59R	W	+	1	0	G6PC2	169466262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.954000	0.63631	0.948000	0.37687	-0.274000	0.10170	TGG		0.294	G6PC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255234.2	NM_021176		25	36	25	36	---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227973563	227973563	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:227973563G>A	ENST00000396625.3	-	11	886	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	COL4A4_ENST00000329662.7_Missense_Mutation_p.R227C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	227	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AAACCTGGACGCCCTGGTTGG	0.428																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(679-681)Cgt>Tgt		collagen, type IV, alpha 4							49.0	43.0	45.0					2																	227973563		1850	4111	5961	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227973563G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.679C>T	2.37:g.227973563G>A	ENSP00000379866:p.Arg227Cys		Somatic				COL4A4_ENST00000329662.7_Missense_Mutation_p.R227C	p.R227C	NM_000092.4	NP_000083.3	WXS	Illumina GAIIx	Phase_I	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	11	886	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	227			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.679C>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975059	0.34848	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.93712	-3.27;-3.27	5.23	1.23	0.21249	.	.	.	.	.	D	0.91683	0.7371	M	0.73962	2.25	0.21147	N	0.999778	D	0.53885	0.963	P	0.48227	0.571	T	0.82936	-0.0210	9	0.37606	T	0.19	.	1.7184	0.02906	0.1553:0.0958:0.208:0.541	.	227	P53420	CO4A4_HUMAN	C	227	ENSP00000379866:R227C;ENSP00000328553:R227C	ENSP00000328553:R227C	R	-	1	0	COL4A4	227681807	0.052000	0.20516	0.934000	0.37439	0.343000	0.28985	0.570000	0.23653	0.374000	0.24650	-0.302000	0.09304	CGT		0.428	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		9	24	9	24	---	---	---	---
LRRFIP1	9208	broad.mit.edu	37	2	238683013	238683013	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:238683013G>C	ENST00000308482.9	+	23	1789	c.1720G>C	c.(1720-1722)Gag>Cag	p.E574Q		NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	0	DNA-binding.|Lys-rich.				innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AATAAGGTTAGAGAGTCAAGT	0.323																																						ENST00000308482.9																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1720-1722)Gag>Cag		leucine rich repeat (in FLII) interacting protein 1							70.0	62.0	65.0					2																	238683013		1568	3582	5150	SO:0001583	missense	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238683013G>C	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000308482.9:c.1720G>C	2.37:g.238683013G>C	ENSP00000310109:p.Glu574Gln		Somatic					p.E574Q	NM_001137550.1	NP_001131022.1	WXS	Illumina GAIIx	Phase_I	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	23	1789	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	623			DNA-binding.|Lys-rich.		E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000308482.9	37	c.1720G>C	CCDS46551.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712203	0.89112	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	D	0.86297	-2.1	5.29	5.29	0.74685	.	.	.	.	.	D	0.93818	0.8023	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71656	0.974;0.959	D	0.94433	0.7651	9	0.87932	D	0	.	18.2861	0.90114	0.0:0.0:1.0:0.0	.	328;574	B4DPC0;E9PGZ2	.;.	Q	574;564	ENSP00000310109:E574Q	ENSP00000310109:E574Q	E	+	1	0	LRRFIP1	238347752	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.296000	0.96104	2.635000	0.89317	0.557000	0.71058	GAG		0.323	LRRFIP1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000257169.3	NM_004735		3	14	3	14	---	---	---	---
ANAPC4	29945	broad.mit.edu	37	4	25393993	25393993	+	Nonsense_Mutation	SNP	G	G	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr4:25393993G>T	ENST00000315368.3	+	10	881	c.739G>T	c.(739-741)Gaa>Taa	p.E247*	ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.E247*	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	247					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTCTTACCTGAAGTAACTCG	0.338																																						ENST00000315368.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27						c.(739-741)Gaa>Taa		anaphase promoting complex subunit 4							149.0	142.0	144.0					4																	25393993		2202	4300	6502	SO:0001587	stop_gained	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25393993G>T	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.739G>T	4.37:g.25393993G>T	ENSP00000318775:p.Glu247*		Somatic				ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.E247*	p.E247*	NM_013367.2	NP_037499.2	WXS	Illumina GAIIx	Phase_I	Q9UJX5	APC4_HUMAN			10	881	+		Breast(46;0.0503)	247					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Nonsense_Mutation	SNP	ENST00000315368.3	37	c.739G>T	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	G	38	6.869708	0.97901	.	.	ENSG00000053900	ENST00000315368;ENST00000510092	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-28.3794	19.8753	0.96867	0.0:0.0:1.0:0.0	.	.	.	.	X	247	.	ENSP00000318775:E247X	E	+	1	0	ANAPC4	25003091	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.307000	0.96226	2.711000	0.92665	0.655000	0.94253	GAA		0.338	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		15	72	15	72	---	---	---	---
RGS7BP	401190	broad.mit.edu	37	5	63890653	63890653	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr5:63890653C>T	ENST00000334025.2	+	4	906	c.580C>T	c.(580-582)Cag>Tag	p.Q194*		NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	194					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		ACATTCCTGGCAGGTTTCCAC	0.483																																						ENST00000334025.2																			0				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11						c.(580-582)Cag>Tag		regulator of G-protein signaling 7 binding protein							91.0	88.0	89.0					5																	63890653		2203	4300	6503	SO:0001587	stop_gained	401190				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane		g.chr5:63890653C>T	BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.580C>T	5.37:g.63890653C>T	ENSP00000334851:p.Gln194*		Somatic					p.Q194*	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	WXS	Illumina GAIIx	Phase_I	Q6MZT1	R7BP_HUMAN		Lung(70;0.147)	4	906	+		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)	194					B7Z3X1	Nonsense_Mutation	SNP	ENST00000334025.2	37	c.580C>T	CCDS34170.1	.	.	.	.	.	.	.	.	.	.	C	39	7.766549	0.98477	.	.	ENSG00000186479	ENST00000334025	.	.	.	5.87	5.87	0.94306	.	0.114307	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-9.1819	19.3531	0.94398	0.0:1.0:0.0:0.0	.	.	.	.	X	194	.	ENSP00000334851:Q194X	Q	+	1	0	RGS7BP	63926409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.427000	0.59888	2.941000	0.99782	0.655000	0.94253	CAG		0.483	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368464.1	NM_001029875		13	33	13	33	---	---	---	---
GUSBP3	653188	broad.mit.edu	37	5	68902931	68902931	+	RNA	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr5:68902931C>T	ENST00000510264.2	+	0	6																											TAAATATTTTCTCACTGCTTC	0.408																																						ENST00000510264.2																			0																																																			653188							g.chr5:68902931C>T																													5.37:g.68902931C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	6	+									RNA	SNP	ENST00000510264.2	37																																																																																						0.408	RP11-848G14.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000379152.1			20	188	20	188	---	---	---	---
PCDHAC1	56135	broad.mit.edu	37	5	140308857	140308857	+	Missense_Mutation	SNP	T	T	A	rs560527071	byFrequency	TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr5:140308857T>A	ENST00000253807.2	+	1	2380	c.2380T>A	c.(2380-2382)Tcc>Acc	p.S794T	PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S794T|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	794					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGCCAATATCCTGTATTCA	0.463																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(2380-2382)Tcc>Acc									121.0	113.0	115.0					5																	140308857		2203	4300	6503	SO:0001583	missense	56135							g.chr5:140308857T>A	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2380T>A	5.37:g.140308857T>A	ENSP00000253807:p.Ser794Thr		Somatic				PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S794T|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron	p.S794T	NM_018898.3	NP_061721.2	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2380	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.2380T>A	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.354025	0.24512	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.53206	0.63;0.64	5.75	4.58	0.56647	.	.	.	.	.	T	0.33265	0.0857	N	0.22421	0.69	0.21652	N	0.9996	P;P	0.41848	0.761;0.763	B;B	0.42282	0.247;0.382	T	0.07558	-1.0766	9	0.12430	T	0.62	.	9.3181	0.37946	0.0:0.1566:0.0:0.8434	.	794;794	Q9H158;Q9H158-2	PCDC1_HUMAN;.	T	794	ENSP00000386356:S794T;ENSP00000253807:S794T	ENSP00000253807:S794T	S	+	1	0	PCDHAC1	140289041	0.998000	0.40836	0.996000	0.52242	0.978000	0.69477	1.263000	0.33004	1.002000	0.39104	0.460000	0.39030	TCC		0.463	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		24	64	24	64	---	---	---	---
LINGO2	158038	broad.mit.edu	37	9	27948877	27948877	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr9:27948877G>T	ENST00000379992.2	-	6	2242	c.1793C>A	c.(1792-1794)cCc>cAc	p.P598H	LINGO2_ENST00000308675.3_Missense_Mutation_p.P598H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	598						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAACCTCCTGGGTCCAGCTAC	0.463																																						ENST00000379992.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1792-1794)cCc>cAc		leucine rich repeat and Ig domain containing 2							138.0	123.0	128.0					9																	27948877		2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27948877G>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1793C>A	9.37:g.27948877G>T	ENSP00000369328:p.Pro598His		Somatic				LINGO2_ENST00000308675.3_Missense_Mutation_p.P598H	p.P598H	NM_152570.2	NP_689783.1	WXS	Illumina GAIIx	Phase_I	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	2242	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	598					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.1793C>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.558690	0.65538	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58358	0.34;0.34	6.07	6.07	0.98685	.	0.054630	0.85682	D	0.000000	T	0.65933	0.2739	L	0.55481	1.735	0.80722	D	1	D	0.64830	0.994	P	0.58928	0.848	T	0.60890	-0.7173	9	.	.	.	.	18.8245	0.92111	0.0:0.0:1.0:0.0	.	598	Q7L985	LIGO2_HUMAN	H	598	ENSP00000369328:P598H;ENSP00000310126:P598H	.	P	-	2	0	LINGO2	27938877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CCC		0.463	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		27	70	27	70	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113208175	113208175	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr9:113208175T>C	ENST00000401783.2	-	26	4741	c.4405A>G	c.(4405-4407)Atc>Gtc	p.I1469V	SVEP1_ENST00000374469.1_Missense_Mutation_p.I1446V|SVEP1_ENST00000302728.8_Missense_Mutation_p.I1469V|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1469	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCATAGGAGATTGGTGTTCCA	0.453																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(4405-4407)Atc>Gtc		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							175.0	168.0	170.0					9																	113208175		1964	4168	6132	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113208175T>C	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4405A>G	9.37:g.113208175T>C	ENSP00000384917:p.Ile1469Val		Somatic				SVEP1_ENST00000302728.8_Missense_Mutation_p.I1469V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.I1446V	p.I1469V	NM_153366.3	NP_699197.3	WXS	Illumina GAIIx	Phase_I	Q4LDE5	SVEP1_HUMAN			26	4741	-			1469			Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4405A>G	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.788469	0.31685	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	T;T;T	0.73897	3.31;3.31;-0.79	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.099685	0.64402	D	0.000002	T	0.57154	0.2034	N	0.13272	0.32	0.29260	N	0.871389	B;B	0.16166	0.011;0.016	B;B	0.23574	0.047;0.017	T	0.50759	-0.8790	10	0.22109	T	0.4	.	11.0294	0.47763	0.0:0.0728:0.0:0.9272	.	1469;1469	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	V	1469;1446;1469	ENSP00000384917:I1469V;ENSP00000363593:I1446V;ENSP00000304118:I1469V	ENSP00000304118:I1469V	I	-	1	0	SVEP1	112247996	0.998000	0.40836	0.991000	0.47740	0.723000	0.41478	2.983000	0.49345	2.219000	0.72066	0.533000	0.62120	ATC		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				18	49	18	49	---	---	---	---
DNA2	1763	broad.mit.edu	37	10	70231685	70231685	+	5'Flank	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr10:70231685G>A	ENST00000358410.3	-	0	0				DNA2_ENST00000399180.2_Silent_p.S65S|DNA2_ENST00000399179.2_5'UTR	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2						ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AACACAGAAAGCTTAGAAAAG	0.617																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(193-195)agC>agT		DNA replication helicase/nuclease 2							31.0	36.0	34.0					10																	70231685		1867	4090	5957	SO:0001631	upstream_gene_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70231685G>A	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352		10.37:g.70231685G>A	Exception_encountered		Somatic				DNA2_ENST00000399179.2_5'UTR	p.S65S			WXS	Illumina GAIIx	Phase_I	P51530	DNA2L_HUMAN			1	194	-			0					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37	c.195C>T																																																																																					0.617	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			6	20	6	20	---	---	---	---
OR51S1	119692	broad.mit.edu	37	11	4870309	4870309	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:4870309G>A	ENST00000322101.2	-	1	205	c.130C>T	c.(130-132)Ctt>Ttt	p.L44F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGAGAGAAGGTAGACAGCA	0.572																																						ENST00000322101.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(130-132)Ctt>Ttt		olfactory receptor, family 51, subfamily S, member 1							106.0	89.0	95.0					11																	4870309		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870309G>A	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.130C>T	11.37:g.4870309G>A	ENSP00000322754:p.Leu44Phe		Somatic				MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.L44F	NM_001004758.1	NP_001004758.1	WXS	Illumina GAIIx	Phase_I	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	205	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	44					B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.130C>T	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	G	7.226	0.598292	0.13939	.	.	ENSG00000176922	ENST00000322101	T	0.17213	2.29	5.3	1.1	0.20463	.	0.184221	0.26499	N	0.024036	T	0.07234	0.0183	N	0.08118	0	0.33313	D	0.566299	B	0.19200	0.034	B	0.20384	0.029	T	0.10086	-1.0645	10	0.46703	T	0.11	-5.046	4.6684	0.12676	0.0708:0.2353:0.4527:0.2412	.	44	Q8NGJ8	O51S1_HUMAN	F	44	ENSP00000322754:L44F	ENSP00000322754:L44F	L	-	1	0	OR51S1	4826885	0.003000	0.15002	0.976000	0.42696	0.063000	0.16089	-0.422000	0.07043	0.374000	0.24650	-0.311000	0.09066	CTT		0.572	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		7	41	7	41	---	---	---	---
OR51A7	119687	broad.mit.edu	37	11	4928816	4928816	+	Silent	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:4928816C>T	ENST00000359350.4	+	1	217	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	73						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(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGACATGGGCCTGTCCCTCTC	0.468																																						ENST00000359350.4																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(217-219)Ctg>Ttg		olfactory receptor, family 51, subfamily A, member 7							165.0	143.0	151.0					11																	4928816		2201	4298	6499	SO:0001819	synonymous_variant	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4928816C>T	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.217C>T	11.37:g.4928816C>T			Somatic				MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	p.L73L	NM_001004749.1	NP_001004749.1	WXS	Illumina GAIIx	Phase_I	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	217	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	73					Q6IFH8	Silent	SNP	ENST00000359350.4	37	c.217C>T	CCDS31364.1																																																																																				0.468	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		30	58	30	58	---	---	---	---
OR52H1	390067	broad.mit.edu	37	11	5566336	5566336	+	Missense_Mutation	SNP	A	A	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr11:5566336A>T	ENST00000322653.4	-	1	443	c.418T>A	c.(418-420)Tat>Aat	p.Y140N	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGTGGTATATCTCAAGGGA	0.438																																						ENST00000322653.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(418-420)Tat>Aat		olfactory receptor, family 52, subfamily H, member 1							112.0	102.0	106.0					11																	5566336		2201	4297	6498	SO:0001583	missense	390067				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5566336A>T	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.418T>A	11.37:g.5566336A>T	ENSP00000326259:p.Tyr140Asn		Somatic				HBG2_ENST00000380259.2_Intron	p.Y140N	NM_001005289.1	NP_001005289.1	WXS	Illumina GAIIx	Phase_I	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	443	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	140					B9EH26|Q6IF79	Missense_Mutation	SNP	ENST00000322653.4	37	c.418T>A	CCDS31386.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.326609	0.60743	.	.	ENSG00000181616	ENST00000322653	T	0.00388	7.59	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	T	0.02230	0.0069	H	0.99764	4.76	0.42229	D	0.991889	D	0.89917	1.0	D	0.91635	0.999	T	0.00071	-1.2131	10	0.87932	D	0	.	9.8046	0.40786	0.919:0.0:0.081:0.0	.	140	Q8NGJ2	O52H1_HUMAN	N	140	ENSP00000326259:Y140N	ENSP00000326259:Y140N	Y	-	1	0	OR52H1	5522912	0.976000	0.34144	0.983000	0.44433	0.687000	0.40016	2.803000	0.47924	2.112000	0.64535	0.528000	0.53228	TAT		0.438	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		14	27	14	27	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	74989505	74989505	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr14:74989505C>T	ENST00000261978.4	-	16	3033	c.2647G>A	c.(2647-2649)Gcc>Acc	p.A883T	LTBP2_ENST00000556690.1_Missense_Mutation_p.A883T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	883	Cys-rich.|EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGCAGTAGGCCTGGCTGGGG	0.612																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2647-2649)Gcc>Acc		latent transforming growth factor beta binding protein 2							44.0	32.0	36.0					14																	74989505		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74989505C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.2647G>A	14.37:g.74989505C>T	ENSP00000261978:p.Ala883Thr		Somatic				LTBP2_ENST00000556690.1_Missense_Mutation_p.A883T	p.A883T	NM_000428.2	NP_000419.1	WXS	Illumina GAIIx	Phase_I	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	16	3033	-			883			Cys-rich.|EGF-like 4.		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.2647G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	1.551	-0.539119	0.04053	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91295	-2.82;-2.82	4.75	0.74	0.18330	Epidermal growth factor-like (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.568447	0.14658	N	0.306178	T	0.71367	0.3331	N	0.03084	-0.415	0.26632	N	0.972454	B	0.24092	0.097	B	0.21360	0.034	T	0.60939	-0.7163	10	0.12430	T	0.62	.	3.6932	0.08354	0.0:0.4515:0.1837:0.3648	.	883	Q14767	LTBP2_HUMAN	T	883	ENSP00000261978:A883T;ENSP00000451477:A883T	ENSP00000261978:A883T	A	-	1	0	LTBP2	74059258	0.358000	0.24947	0.998000	0.56505	0.475000	0.33008	-0.056000	0.11787	0.622000	0.30249	-0.140000	0.14226	GCC		0.612	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		8	25	8	25	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179539084	179539086	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr2:179539084_179539086delTTC	ENST00000591111.1	-	147	33765_33767	c.33541_33543delGAA	c.(33541-33543)gaadel	p.E11181del	TTN_ENST00000342992.6_In_Frame_Del_p.E10254del|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_In_Frame_Del_p.E11555del			Q8WZ42	TITIN_HUMAN	titin	11181	Glu-rich.|Pro-rich.				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)			TGCTAGGTGGTTCTTCTGGGATT	0.34																																						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.(34663-34665)gaadel		titin			,,,	0,3506		0,0,1753					,,,	3.2	1.0			81	5,7825		0,5,3910	no	intron,intron,coding,intron	TTN	NM_133437.3,NM_133432.3,NM_133378.4,NM_003319.4	,,,	0,5,5663	A1A1,A1R,RR		0.0639,0.0,0.0441	,,,	,,,		5,11331				SO:0001651	inframe_deletion	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179539084_179539086delTTC	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.33541_33543delGAA	2.37:g.179539087_179539089delTTC	ENSP00000465570:p.Glu11181del		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_In_Frame_Del_p.E10254del|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_In_Frame_Del_p.E11181del|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	p.E11555del	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)		151	34887_34889	-			11318			Glu-rich.|Pro-rich.		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	In_Frame_Del	DEL	ENST00000591111.1	37	c.34663_34665delGAA																																																																																					0.340	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	2	5	2	---	---	---	---
HDAC10	83933	broad.mit.edu	37	22	50684778	50684779	+	Frame_Shift_Ins	INS	-	-	C			TCGA-V1-A8MF-01A-11D-A364-08	TCGA-V1-A8MF-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14569e23-59ef-4c2a-abdc-0c162bdfc721	3b55bcae-8653-48b8-b552-b0368b47bac2	g.chr22:50684778_50684779insC	ENST00000216271.5	-	17	1950_1951	c.1598_1599insG	c.(1597-1599)ggcfs	p.G533fs	HDAC10_ENST00000448072.1_Frame_Shift_Ins_p.G483fs|TUBGCP6_ENST00000439308.2_5'Flank|HDAC10_ENST00000349505.4_Frame_Shift_Ins_p.G513fs|TUBGCP6_ENST00000248846.5_5'Flank|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000498366.1_5'UTR	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	533					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGCCTCCTTGCCCCTGATGTT	0.614																																						ENST00000216271.5																			0				endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8						c.(1597-1599)ggcfs		histone deacetylase 10																																				SO:0001589	frameshift_variant	83933				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)	g.chr22:50684778_50684779insC	AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1599dupG	22.37:g.50684782_50684782dupC	ENSP00000216271:p.Gly533fs		Somatic				HDAC10_ENST00000448072.1_Frame_Shift_Ins_p.G483fs|HDAC10_ENST00000349505.4_Frame_Shift_Ins_p.G513fs|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR	p.G533fs	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	WXS	Illumina GAIIx	Phase_I	Q969S8	HDA10_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	17	1950_1951	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	533					Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Frame_Shift_Ins	INS	ENST00000216271.5	37	c.1598_1599insG	CCDS14088.1																																																																																				0.614	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104141.4	NM_032019		19	69	19	69	---	---	---	---
