#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
ETAA1	54465	broad.mit.edu	37	2	67630066	67630066	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr2:67630066G>T	ENST00000272342.5	+	4	632	c.502G>T	c.(502-504)Gta>Tta	p.V168L	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	168						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TACTCCCAGTGTAGCAAAAGG	0.353																																						uc002sdz.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(502-504)Gta>Tta		Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.							107.0	102.0	104.0					2																	67630066		2203	4299	6502	SO:0001583	missense	54465					cytoplasm|nucleus		g.chr2:67630066G>T	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.502G>T	2.37:g.67630066G>T	ENSP00000272342:p.Val168Leu						p.V168L	NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN			3	641	+			168					Q05BT7|Q53SC4	Missense_Mutation	SNP	ENST00000272342.5	37	c.502G>T	CCDS1882.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316894	0.60524	.	.	ENSG00000143971	ENST00000272342	T	0.24350	1.86	6.16	3.01	0.34805	.	0.194336	0.43747	D	0.000523	T	0.40670	0.1126	M	0.71581	2.175	0.44175	D	0.996981	D	0.67145	0.996	P	0.54924	0.764	T	0.43718	-0.9374	10	0.87932	D	0	-0.5245	12.2802	0.54759	0.2143:0.0:0.7857:0.0	.	168	Q9NY74	ETAA1_HUMAN	L	168	ENSP00000272342:V168L	ENSP00000272342:V168L	V	+	1	0	ETAA1	67483570	0.892000	0.30473	0.946000	0.38457	0.937000	0.57800	1.077000	0.30741	0.947000	0.37659	-0.145000	0.13849	GTA		0.353	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		3	51	0	0	0	1	0	3	51				
FUK	197258	broad.mit.edu	37	16	70509259	70509259	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr16:70509259T>C	ENST00000288078.6	+	19	2616	c.2384T>C	c.(2383-2385)cTg>cCg	p.L795P	FUK_ENST00000378912.2_Missense_Mutation_p.L827P|FUK_ENST00000571514.1_Missense_Mutation_p.L286P	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	795						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GCAGGGGCCCTGCTGAAGGCG	0.627																																						uc010cft.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(2479-2481)cTg>cCg		Homo sapiens fucokinase (FUK), mRNA.							46.0	49.0	48.0					16																	70509259		2055	4190	6245	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70509259T>C		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.2384T>C	16.37:g.70509259T>C	ENSP00000288078:p.Leu795Pro					FUK_uc002eyy.3_Missense_Mutation_p.L795P|FUK_uc002eyz.3_Missense_Mutation_p.L286P	p.L827P	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN			18	2538	+		Ovarian(137;0.0694)	795					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.2480T>C	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	T	22.3	4.267866	0.80469	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000538525	D;D	0.92397	-3.03;-3.03	5.12	5.12	0.69794	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.64402	D	0.000002	D	0.96500	0.8858	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.98;0.986	D	0.97285	0.9920	10	0.87932	D	0	-13.9003	15.078	0.72090	0.0:0.0:0.0:1.0	.	827;701;795	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	P	795;827;109	ENSP00000288078:L795P;ENSP00000368192:L827P	ENSP00000288078:L795P	L	+	2	0	FUK	69066760	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.126000	0.77201	2.150000	0.67090	0.454000	0.30748	CTG		0.627	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		3	86	0	0	0	1	0	3	86				
COL12A1	1303	broad.mit.edu	37	6	75843113	75843113	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr6:75843113T>C	ENST00000322507.8	-	34	5999	c.5690A>G	c.(5689-5691)tAt>tGt	p.Y1897C	COL12A1_ENST00000416123.2_Missense_Mutation_p.Y1897C|COL12A1_ENST00000483888.2_Missense_Mutation_p.Y1897C|COL12A1_ENST00000345356.6_Missense_Mutation_p.Y733C	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1897	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAGAATGGCATAATTGGTATT	0.368																																						uc021zbv.1																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(5689-5691)tAt>tGt		Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.							108.0	99.0	102.0					6																	75843113		1852	4086	5938	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75843113T>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5690A>G	6.37:g.75843113T>C	ENSP00000325146:p.Tyr1897Cys					COL12A1_uc021zbw.1_Missense_Mutation_p.Y733C|COL12A1_uc003phs.3_Missense_Mutation_p.Y1897C|COL12A1_uc003pht.3_Missense_Mutation_p.Y733C	p.Y1897C	NM_004370	NP_004361	Q99715	COCA1_HUMAN			32	5725	-			1897			Fibronectin type-III 14.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5690A>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665310	0.67700	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.4	5.4	0.78164	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000008	T	0.56992	0.2023	L	0.47716	1.5	0.41843	D	0.990133	D;D	0.76494	0.998;0.999	P;D	0.69142	0.906;0.962	T	0.58126	-0.7691	10	0.44086	T	0.13	.	15.7265	0.77763	0.0:0.0:0.0:1.0	.	733;1897	Q99715-2;Q99715	.;COCA1_HUMAN	C	1897;1897;733;1897;1897	ENSP00000325146:Y1897C;ENSP00000305147:Y733C;ENSP00000412864:Y1897C;ENSP00000421216:Y1897C	ENSP00000325146:Y1897C	Y	-	2	0	COL12A1	75899833	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.692000	0.37731	2.169000	0.68431	0.528000	0.53228	TAT		0.368	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		17	39	0	0	0	1	0	17	39				
LYPLAL1	127018	broad.mit.edu	37	1	219384958	219384958	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr1:219384958C>T	ENST00000366928.5	+	5	649	c.602C>T	c.(601-603)aCg>aTg	p.T201M	LYPLAL1_ENST00000366927.3_Missense_Mutation_p.T185M|LYPLAL1_ENST00000483635.1_3'UTR	NM_138794.3	NP_620149	Q5VWZ2	LYPL1_HUMAN	lysophospholipase-like 1	201					negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|protein depalmitoylation (GO:0002084)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	lysophospholipase activity (GO:0004622)			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GGAGTGACCACGAAGTTTCAT	0.373																																						uc001hlq.4																			0				large_intestine(1)|lung(5)	6						c.(601-603)aCg>aTg		Homo sapiens lysophospholipase-like 1 (LYPLAL1), mRNA.							134.0	133.0	133.0					1																	219384958		2203	4300	6503	SO:0001583	missense	127018					cytoplasm	lysophospholipase activity	g.chr1:219384958C>T	BC016711	CCDS1522.1, CCDS73032.1	1q41	2008-02-05			ENSG00000143353	ENSG00000143353			20440	protein-coding gene	gene with protein product							Standard	XM_005273046		Approved	Q96AV0	uc001hlq.4	Q5VWZ2	OTTHUMG00000037141	ENST00000366928.5:c.602C>T	1.37:g.219384958C>T	ENSP00000355895:p.Thr201Met					LYPLAL1_uc001hlr.4_Missense_Mutation_p.T185M|LYPLAL1_uc001hls.4_Missense_Mutation_p.T77M|LYPLAL1_uc001hlt.4_Missense_Mutation_p.T77M|LYPLAL1_uc009xds.3_Missense_Mutation_p.T150M	p.T201M	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN		GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)	4	643	+			201					A8K677|Q5VWZ3|Q7Z4A3|Q96AV0	Missense_Mutation	SNP	ENST00000366928.5	37	c.602C>T	CCDS1522.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014209	0.35511	.	.	ENSG00000143353	ENST00000366928;ENST00000366927	T;T	0.22539	1.95;1.97	6.16	6.16	0.99307	Phospholipase/carboxylesterase/thioesterase (1);	0.222920	0.46442	D	0.000281	T	0.33527	0.0866	M	0.62723	1.935	0.25334	N	0.989005	P;P;P	0.49559	0.925;0.873;0.896	B;B;P	0.46049	0.319;0.279;0.502	T	0.13656	-1.0501	10	0.56958	D	0.05	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	77;185;201	B3KVW3;Q5VWZ2-2;Q5VWZ2	.;.;LYPL1_HUMAN	M	201;185	ENSP00000355895:T201M;ENSP00000355894:T185M	ENSP00000355894:T185M	T	+	2	0	LYPLAL1	217451581	0.075000	0.21258	0.372000	0.25991	0.005000	0.04900	3.714000	0.54889	2.937000	0.99478	0.650000	0.86243	ACG		0.373	LYPLAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090208.1	NM_138794		15	64	0	0	0	1	0	15	64				
SHROOM2	357	broad.mit.edu	37	X	9862838	9862838	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chrX:9862838A>G	ENST00000380913.3	+	4	980	c.890A>G	c.(889-891)aAt>aGt	p.N297S		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	297					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGGAGGTCCAATTTTGGGCCA	0.612																																						uc004csu.1																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(889-891)aAt>aGt		Homo sapiens shroom family member 2 (SHROOM2), mRNA.							39.0	31.0	34.0					X																	9862838		2203	4300	6503	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9862838A>G	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.890A>G	X.37:g.9862838A>G	ENSP00000370299:p.Asn297Ser						p.N297S	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			3	980	+		Hepatocellular(5;0.000888)	297					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.890A>G	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	A	1.090	-0.664297	0.03428	.	.	ENSG00000146950	ENST00000380913	T	0.16073	2.37	4.38	-3.89	0.04193	.	0.407996	0.27782	N	0.017861	T	0.07234	0.0183	N	0.13043	0.29	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.43163	-0.9408	10	0.09590	T	0.72	-7.5296	11.5525	0.50729	0.6912:0.0:0.3088:0.0	.	297	Q13796	SHRM2_HUMAN	S	297	ENSP00000370299:N297S	ENSP00000370299:N297S	N	+	2	0	SHROOM2	9822838	.	.	0.005000	0.12908	0.659000	0.38960	.	.	-1.281000	0.02399	-0.314000	0.08810	AAT		0.612	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		17	65	0	0	0	1	0	17	65				
UBQLN3	50613	broad.mit.edu	37	11	5528997	5528997	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr11:5528997T>C	ENST00000311659.4	-	2	1939	c.1792A>G	c.(1792-1794)Atg>Gtg	p.M598V	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank|HBE1_ENST00000380237.1_5'Flank|AC104389.28_ENST00000415970.1_RNA	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	598										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTGCAGCATATGGAGAAAG	0.542																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1792-1794)Atg>Gtg		Homo sapiens ubiquilin 3 (UBQLN3), mRNA.							62.0	66.0	65.0					11																	5528997		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5528997T>C	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1792A>G	11.37:g.5528997T>C	ENSP00000347997:p.Met598Val					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc021qcw.1_Missense_Mutation_p.M598V	p.M598V	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	1878	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	598					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1792A>G	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	t	0.023	-1.403194	0.01165	.	.	ENSG00000175520	ENST00000311659	T	0.40225	1.04	5.02	-0.0539	0.13816	UBA-like (1);	0.635417	0.14713	N	0.302800	T	0.29524	0.0736	M	0.64080	1.96	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29671	-1.0004	10	0.10377	T	0.69	0.1253	2.7558	0.05292	0.3229:0.1835:0.0:0.4936	.	598	Q9H347	UBQL3_HUMAN	V	598	ENSP00000347997:M598V	ENSP00000347997:M598V	M	-	1	0	UBQLN3	5485573	0.001000	0.12720	0.029000	0.17559	0.022000	0.10575	0.613000	0.24299	-0.095000	0.12351	-1.168000	0.01747	ATG		0.542	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		59	40	0	0	0	1	0	59	40				
TLL2	7093	broad.mit.edu	37	10	98155751	98155751	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr10:98155751C>T	ENST00000357947.3	-	12	1636	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	471	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGACCGGCATCTTTGTTCATG	0.517											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kml.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(1411-1413)Gat>Aat		Homo sapiens tolloid-like 2 (TLL2), mRNA.							99.0	102.0	101.0					10																	98155751		2203	4300	6503	SO:0001583	missense	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98155751C>T	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1411G>A	10.37:g.98155751C>T	ENSP00000350630:p.Asp471Asn		OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1333	TLL2_uc009xvf.2_Missense_Mutation_p.D449N	p.D471N	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	11	1652	-		Colorectal(252;0.0846)	471			CUB 2.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	ENST00000357947.3	37	c.1411G>A	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115833	0.77323	.	.	ENSG00000095587	ENST00000357947	T	0.17691	2.26	5.37	5.37	0.77165	CUB (5);	0.000000	0.47093	D	0.000244	T	0.31544	0.0800	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01323	-1.1385	10	0.15952	T	0.53	.	18.2839	0.90107	0.0:1.0:0.0:0.0	.	471	Q9Y6L7	TLL2_HUMAN	N	471	ENSP00000350630:D471N	ENSP00000350630:D471N	D	-	1	0	TLL2	98145741	1.000000	0.71417	0.992000	0.48379	0.586000	0.36452	5.886000	0.69743	2.793000	0.96121	0.563000	0.77884	GAT		0.517	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			37	94	0	0	0	1	0	37	94				
GPR141	353345	broad.mit.edu	37	7	37780300	37780300	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr7:37780300C>T	ENST00000447769.1	+	4	594	c.305C>T	c.(304-306)aCg>aTg	p.T102M	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.T102M|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATGTACCTCACGTTCCTATTC	0.473																																						uc003tfm.1																			0		p.T102T(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(304-306)aCg>aTg		Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.							116.0	100.0	106.0					7																	37780300		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780300C>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.305C>T	7.37:g.37780300C>T	ENSP00000390410:p.Thr102Met					BC043356_uc003tfl.3_Intron	p.T102M	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			0	305	+			102					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.305C>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522166	0.64747	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.38240	1.15;1.15;1.15	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.189693	0.47093	D	0.000250	T	0.61702	0.2368	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.66048	-0.6020	10	0.87932	D	0	-23.681	17.5994	0.88022	0.0:1.0:0.0:0.0	.	102	Q7Z602	GP141_HUMAN	M	102	ENSP00000396300:T102M;ENSP00000390410:T102M;ENSP00000334540:T102M	ENSP00000334540:T102M	T	+	2	0	GPR141	37746825	0.988000	0.35896	0.918000	0.36340	0.800000	0.45204	2.972000	0.49256	2.517000	0.84864	0.650000	0.86243	ACG		0.473	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		22	78	0	0	0	1	0	22	78				
C2orf83	56918	broad.mit.edu	37	2	228476316	228476316	+	Missense_Mutation	SNP	C	C	T	rs111332429		TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr2:228476316C>T	ENST00000264387.4	-	3	333	c.247G>A	c.(247-249)Gta>Ata	p.V83I	C2orf83_ENST00000409066.1_3'UTR	NM_020161.3	NP_064546.3	Q53S99	CB083_HUMAN	chromosome 2 open reading frame 83	83					transport (GO:0006810)	membrane (GO:0016020)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						CATGTCTGTACGGTAAGTTTC	0.468													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19316	0.0		0.0	False		,,,				2504	0.0					uc002vph.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						c.(247-249)Gta>Ata		Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA.		C	,ILE/VAL	10,4396	16.8+/-37.8	0,10,2193	87.0	92.0	90.0		,247	-0.5	0.0	2	dbSNP_132	90	0,8600		0,0,4300	yes	utr-3,missense	C2orf83	NM_001162483.1,NM_020161.3	,29	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	,benign	,83/151	228476316	10,12996	2203	4300	6503	SO:0001583	missense	56918					membrane	folic acid binding|reduced folate carrier activity	g.chr2:228476316C>T		CCDS33388.1, CCDS54434.1	2q36.3	2008-09-16			ENSG00000042304	ENSG00000042304			25344	protein-coding gene	gene with protein product							Standard	NM_020161		Approved	DKFZp547H025	uc002vph.3	Q53S99	OTTHUMG00000153550	ENST00000264387.4:c.247G>A	2.37:g.228476316C>T	ENSP00000264387:p.Val83Ile					C2orf83_uc010zlu.2_3'UTR	p.V83I	NM_020161	NP_064546	Q53S99	CB083_HUMAN			2	482	-			83					A2RRG6|B8ZZI8|Q9NPW4	Missense_Mutation	SNP	ENST00000264387.4	37	c.247G>A	CCDS33388.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.501	1.103294	0.20632	0.00227	0.0	ENSG00000042304	ENST00000264387	T	0.59638	0.25	2.38	-0.461	0.12172	.	.	.	.	.	T	0.35335	0.0928	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24368	-1.0162	9	0.72032	D	0.01	.	5.1469	0.14989	0.0:0.5472:0.0:0.4528	.	83	Q53S99	CB083_HUMAN	I	83	ENSP00000264387:V83I	ENSP00000264387:V83I	V	-	1	0	C2orf83	228184560	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.706000	0.05047	-0.133000	0.11537	-0.219000	0.12488	GTA		0.468	C2orf83-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331607.1	NM_020161		6	55	0	0	0	1	0	6	55				
AP3B1	8546	broad.mit.edu	37	5	77311327	77311327	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr5:77311327G>A	ENST00000255194.6	-	26	3213	c.3038C>T	c.(3037-3039)gCa>gTa	p.A1013V	AP3B1_ENST00000519295.1_Missense_Mutation_p.A964V	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1013					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATTCTGTGGTGCAGCAATGAT	0.383									Hermansky-Pudlak syndrome																													uc003kfj.3																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(3037-3039)gCa>gTa		Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.							110.0	110.0	110.0					5																	77311327		2203	4300	6503	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77311327G>A	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.3038C>T	5.37:g.77311327G>A	ENSP00000255194:p.Ala1013Val						p.A1013V	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	25	3163	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	1013					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.3038C>T	CCDS4041.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.49|12.49	1.954887|1.954887	0.34471|0.34471	.|.	.|.	ENSG00000132842|ENSG00000132842	ENST00000255194;ENST00000519295|ENST00000522901	T;T|.	0.55930|.	0.49;0.49|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.234278|.	0.43110|.	D|.	0.000613|.	T|T	0.47525|0.47525	0.1450|0.1450	L|L	0.38175|0.38175	1.15|1.15	0.31732|0.31732	N|N	0.636965|0.636965	B|.	0.32573|.	0.376|.	B|.	0.30401|.	0.115|.	T|T	0.52540|0.52540	-0.8562|-0.8562	10|5	0.30854|.	T|.	0.27|.	-8.5507|-8.5507	14.2101|14.2101	0.65759|0.65759	0.0:0.0:0.8506:0.1494|0.0:0.0:0.8506:0.1494	.|.	1013|.	O00203|.	AP3B1_HUMAN|.	V|Y	1013;964|113	ENSP00000255194:A1013V;ENSP00000430597:A964V|.	ENSP00000255194:A1013V|.	A|H	-|-	2|1	0|0	AP3B1|AP3B1	77347083|77347083	1.000000|1.000000	0.71417|0.71417	0.544000|0.544000	0.28141|0.28141	0.876000|0.876000	0.50452|0.50452	6.260000|6.260000	0.72502|0.72502	2.579000|2.579000	0.87056|0.87056	0.655000|0.655000	0.94253|0.94253	GCA|CAC		0.383	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			24	75	0	0	0	1	0	24	75				
MOAP1	64112	broad.mit.edu	37	14	93652904	93652904	+	5'Flank	SNP	A	A	G			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr14:93652904A>G	ENST00000556883.1	-	0	0				MOAP1_ENST00000298894.4_5'Flank|RP11-371E8.4_ENST00000557574.1_Intron|RP11-371E8.4_ENST00000557048.1_Intron|TMEM251_ENST00000283534.4_Missense_Mutation_p.K95R|TMEM251_ENST00000415050.2_Missense_Mutation_p.K133R			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1						apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		GCTGATCCCAAAACAGTGGGC	0.418																																						uc010auo.3																			0				kidney(1)	1						c.(397-399)aAa>aGa		Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 1, mRNA.							172.0	164.0	166.0					14																	93652904		1918	4126	6044	SO:0001631	upstream_gene_variant	26175					integral to membrane		g.chr14:93652904A>G	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184		14.37:g.93652904A>G	Exception_encountered					MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc001ybk.4_Missense_Mutation_p.K95R|C14orf109_uc021sax.1_Missense_Mutation_p.K95R	p.K133R	NM_001098621	NP_056491	Q8N6I4	CN109_HUMAN		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)	1	756	+		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)	127					B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.398A>G	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	A	16.32	3.089705	0.55968	.	.	ENSG00000153485	ENST00000283534;ENST00000415050	.	.	.	5.86	5.86	0.93980	.	0.051642	0.85682	D	0.000000	T	0.47154	0.1430	N	0.19112	0.55	0.54753	D	0.999984	B	0.30146	0.27	B	0.32533	0.147	T	0.48019	-0.9071	9	0.52906	T	0.07	-23.2635	16.3082	0.82856	1.0:0.0:0.0:0.0	.	127	Q8N6I4	CN109_HUMAN	R	95;133	.	ENSP00000283534:K95R	K	+	2	0	C14orf109	92722657	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.265000	0.78442	2.250000	0.74265	0.456000	0.33151	AAA		0.418	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			5	239	0	0	0	1	0	5	239				
LRTM2	654429	broad.mit.edu	37	12	1940261	1940261	+	Silent	SNP	G	G	A			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr12:1940261G>A	ENST00000543818.1	+	4	1070	c.228G>A	c.(226-228)ttG>ttA	p.L76L	LRTM2_ENST00000535041.1_Silent_p.L76L|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000299194.1_Silent_p.L76L|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	76						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TCTTGCTCTTGAACAATAAGC	0.642																																						uc001qjt.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(226-228)ttG>ttA		Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.							76.0	84.0	82.0					12																	1940261		2203	4300	6503	SO:0001819	synonymous_variant	654429					integral to membrane		g.chr12:1940261G>A	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.228G>A	12.37:g.1940261G>A						CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Silent_p.L76L|LRTM2_uc010sdx.1_Silent_p.L76L|LRTM2_uc001qjv.2_Intron	p.L76L	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		3	1034	+	Ovarian(42;0.107)		76					A7E2U6	Silent	SNP	ENST00000543818.1	37	c.228G>A	CCDS31726.1																																																																																				0.642	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			60	192	0	0	0	1	0	60	192				
EXOC3L4	91828	broad.mit.edu	37	14	103568560	103568560	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr14:103568560C>T	ENST00000380069.3	+	2	576	c.500C>T	c.(499-501)aCc>aTc	p.T167I		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	167					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCCTCGCGCACCTTTGAGCAG	0.657																																						uc001ymk.3																			0				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						c.(499-501)aCc>aTc		Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.							13.0	14.0	13.0					14																	103568560		2200	4296	6496	SO:0001583	missense	91828							g.chr14:103568560C>T	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.500C>T	14.37:g.103568560C>T	ENSP00000369409:p.Thr167Ile						p.T167I	NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN			1	576	+			167					Q14CR2	Missense_Mutation	SNP	ENST00000380069.3	37	c.500C>T	CCDS32163.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817588	0.32145	.	.	ENSG00000205436	ENST00000380069	T	0.05717	3.4	3.93	1.98	0.26296	.	0.513660	0.16187	N	0.225588	T	0.05227	0.0139	L	0.34521	1.04	0.09310	N	1	P	0.47302	0.893	B	0.40165	0.321	T	0.35599	-0.9782	10	0.66056	D	0.02	-10.9008	8.047	0.30555	0.1736:0.6563:0.1701:0.0	.	167	Q17RC7	EX3L4_HUMAN	I	167	ENSP00000369409:T167I	ENSP00000369409:T167I	T	+	2	0	EXOC3L4	102638313	0.000000	0.05858	0.790000	0.31976	0.815000	0.46073	0.193000	0.17116	2.004000	0.58718	0.555000	0.69702	ACC		0.657	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		6	19	0	0	0	1	0	6	19				
CNPY4	245812	broad.mit.edu	37	7	99720117	99720117	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr7:99720117G>A	ENST00000262932.3	+	3	391	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	TAF6_ENST00000437822.2_5'Flank|CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	87						extracellular region (GO:0005576)				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GACAAGGCTGGAAGAGGCCTT	0.537																																						uc003uto.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(259-261)Gaa>Aaa		Homo sapiens canopy 4 homolog (zebrafish) (CNPY4), mRNA.							120.0	129.0	126.0					7																	99720117		2203	4300	6503	SO:0001583	missense	245812					extracellular region		g.chr7:99720117G>A	AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.259G>A	7.37:g.99720117G>A	ENSP00000262932:p.Glu87Lys					TAF6_uc011kji.2_5'Flank	p.E87K	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN			2	362	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		87					Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	c.259G>A	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530458	0.85706	.	.	ENSG00000166997	ENST00000262932	T	0.35973	1.28	5.39	5.39	0.77823	.	0.118890	0.64402	D	0.000019	T	0.37073	0.0990	L	0.36672	1.1	0.38865	D	0.956564	P	0.47545	0.897	P	0.48488	0.579	T	0.10245	-1.0638	10	0.29301	T	0.29	-13.7383	14.6431	0.68739	0.0:0.0:1.0:0.0	.	87	Q8N129	CNPY4_HUMAN	K	87	ENSP00000262932:E87K	ENSP00000262932:E87K	E	+	1	0	CNPY4	99558053	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	5.356000	0.66052	2.509000	0.84616	0.561000	0.74099	GAA		0.537	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4	NM_152755		53	249	0	0	0	1	0	53	249				
KRTAP4-2	85291	broad.mit.edu	37	17	39334209	39334209	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr17:39334209A>G	ENST00000377726.2	-	1	251	c.208T>C	c.(208-210)Tgc>Cgc	p.C70R		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	70	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GTCCTGCAGCAAGTGGTCTGG	0.672																																						uc002hwd.3																			0				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7						c.(208-210)Tgc>Cgc		Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA.							42.0	48.0	46.0					17																	39334209		2202	4298	6500	SO:0001583	missense	85291					keratin filament		g.chr17:39334209A>G	AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"""Keratin associated proteins"""	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.208T>C	17.37:g.39334209A>G	ENSP00000366955:p.Cys70Arg						p.C70R	NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		0	252	-		Breast(137;0.000496)	70			20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].		A0JP64	Missense_Mutation	SNP	ENST00000377726.2	37	c.208T>C	CCDS11384.1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.178797	0.38511	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.04862	3.54	4.59	3.51	0.40186	.	.	.	.	.	T	0.31420	0.0796	H	0.96889	3.9	0.39658	D	0.970576	D	0.67145	0.996	D	0.83275	0.996	T	0.08066	-1.0740	9	0.87932	D	0	.	4.1294	0.10143	0.7211:0.0:0.0995:0.1794	.	70	Q9BYR5	KRA42_HUMAN	R	70;187	ENSP00000366955:C70R	ENSP00000366955:C70R	C	-	1	0	KRTAP4-2	36587735	0.654000	0.27367	0.126000	0.21872	0.006000	0.05464	2.179000	0.42528	0.708000	0.31955	0.460000	0.39030	TGC		0.672	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			24	148	0	0	0	1	0	24	148				
EHBP1	23301	broad.mit.edu	37	2	62934336	62934336	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A2OY-01A-11D-A202-08	TCGA-EM-A2OY-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b5e7c18-f91e-4c4f-9b61-c0a5c8a572ca	0af5b0a2-abc5-4563-b111-e4058014700e	g.chr2:62934336G>T	ENST00000263991.5	+	2	492	c.10G>T	c.(10-12)Gtt>Ttt	p.V4F	EHBP1_ENST00000354487.3_Missense_Mutation_p.V4F|EHBP1_ENST00000405289.1_Missense_Mutation_p.V4F|EHBP1_ENST00000405015.3_Missense_Mutation_p.V4F|EHBP1_ENST00000431489.1_Missense_Mutation_p.V4F	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	4						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CATGGCTTCAGTTTGGAAGAG	0.463																																						uc002sby.3																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(10-12)Gtt>Ttt		Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.							141.0	134.0	137.0					2																	62934336		2203	4300	6503	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:62934336G>T	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.10G>T	2.37:g.62934336G>T	ENSP00000263991:p.Val4Phe					EHBP1_uc010fcp.3_Missense_Mutation_p.V4F|EHBP1_uc010fcq.1_Missense_Mutation_p.V4F|EHBP1_uc002sbx.2_Missense_Mutation_p.V4F|EHBP1_uc002sbz.3_Missense_Mutation_p.V4F|EHBP1_uc002scb.3_Missense_Mutation_p.V4F|EHBP1_uc002sca.3_Missense_Mutation_p.V4F	p.V4F	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		1	492	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		4					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.10G>T	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443618	0.83993	.	.	ENSG00000115504	ENST00000405015;ENST00000405482;ENST00000427809;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	D;T;D;D;D;D	0.82433	-1.61;0.21;-1.61;-1.6;-1.6;-1.6	4.97	4.97	0.65823	.	0.000000	0.64402	D	0.000004	D	0.91300	0.7257	M	0.79475	2.455	0.80722	D	1	D;D;D;D	0.89917	1.0;0.971;0.963;1.0	D;B;P;D	0.85130	0.997;0.441;0.839;0.997	D	0.92530	0.6032	10	0.87932	D	0	.	18.2632	0.90043	0.0:0.0:1.0:0.0	.	4;4;4;4	Q8NDI1-2;A8K930;Q8NDI1-3;Q8NDI1	.;.;.;EHBP1_HUMAN	F	4	ENSP00000384143:V4F;ENSP00000384829:V4F;ENSP00000403783:V4F;ENSP00000263991:V4F;ENSP00000346482:V4F;ENSP00000385524:V4F	ENSP00000263991:V4F	V	+	1	0	EHBP1	62787840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.799000	0.99117	2.289000	0.77006	0.655000	0.94253	GTT		0.463	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		19	36	0	0	0	1	0	19	36				
