#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
FLOT1	10211	broad.mit.edu	37	6	30707947	30707947	+	Silent	SNP	G	G	C			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr6:30707947G>C	ENST00000376389.3	-	8	931	c.711C>G	c.(709-711)gcC>gcG	p.A237A	FLOT1_ENST00000470643.1_5'UTR|FLOT1_ENST00000456573.2_Silent_p.A189A|XXbac-BPG252P9.10_ENST00000607333.1_RNA	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1	0					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	GAAGCTGATAGGCCAGGTCAG	0.557																																						ENST00000376389.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(709-711)gcC>gcG		flotillin 1							93.0	70.0	78.0					6																	30707947		1511	2709	4220	SO:0001819	synonymous_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30707947G>C	AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.711C>G	6.37:g.30707947G>C						FLOT1_ENST00000456573.2_Silent_p.A189A|FLOT1_ENST00000470643.1_5'UTR	p.A237A	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN			8	931	-			237					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000376389.3	37	c.711C>G	CCDS4688.1																																																																																				0.557	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076276.2			5	23	0	0	0	0.021553	0	5	23				
LPHN2	23266	broad.mit.edu	37	1	82436030	82436030	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr1:82436030C>G	ENST00000370728.1	+	18	3399	c.2754C>G	c.(2752-2754)caC>caG	p.H918Q	LPHN2_ENST00000370715.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.H905Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.H843Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.H918Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000319517.6_Missense_Mutation_p.H905Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.H918Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.H918Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.H918Q			O95490	LPHN2_HUMAN	latrophilin 2	918					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTTCTACACTTTTTCTTTT	0.353																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2752-2754)caC>caG		latrophilin 2							148.0	146.0	147.0					1																	82436030		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82436030C>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2754C>G	1.37:g.82436030C>G	ENSP00000359763:p.His918Gln					LPHN2_ENST00000394879.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.H905Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.H918Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.H843Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.H918Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.H905Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.H918Q|LPHN2_ENST00000370730.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.H905Q	p.H918Q			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	18	3399	+			918					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2754C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.846504|2.846504	0.51164|0.51164	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88|.	5.72|5.72	3.85|3.85	0.44370|0.44370	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69531|0.69531	0.3121|0.3121	M|M	0.88241|0.88241	2.94|2.94	0.52501|0.52501	D|D	0.999959|0.999959	D;D;D|.	0.65815|.	0.995;0.987;0.991|.	D;P;D|.	0.68765|.	0.96;0.833;0.96|.	T|T	0.74281|0.74281	-0.3716|-0.3716	10|5	0.59425|.	D|.	0.04|.	.|.	9.0623|9.0623	0.36442|0.36442	0.0:0.7804:0.0:0.2196|0.0:0.7804:0.0:0.2196	.|.	905;905;905|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	Q|S	843;918;918;918;918;905;905;905;905;905;918;905;918;918|786	ENSP00000359756:H843Q;ENSP00000359763:H918Q;ENSP00000359765:H918Q;ENSP00000359762:H918Q;ENSP00000359760:H918Q;ENSP00000359758:H905Q;ENSP00000353006:H905Q;ENSP00000359750:H905Q;ENSP00000359748:H905Q;ENSP00000322270:H905Q;ENSP00000359752:H918Q;ENSP00000378344:H905Q;ENSP00000271029:H918Q;ENSP00000337306:H918Q|.	ENSP00000271029:H918Q|.	H|T	+|+	3|2	2|0	LPHN2|LPHN2	82208618|82208618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.445000|1.445000	0.35079|0.35079	1.418000|1.418000	0.47098|0.47098	0.591000|0.591000	0.81541|0.81541	CAC|ACT		0.353	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		43	69	0	0	0	0.045515	0	43	69				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			4	41	0	0	0	0.009096	0	4	41				
LRIG3	121227	broad.mit.edu	37	12	59274443	59274443	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr12:59274443G>A	ENST00000320743.3	-	13	2007	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	LRIG3_ENST00000379141.4_Missense_Mutation_p.A514V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	574	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A574V(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCCCTCACTGGCAAATTCCAC	0.478			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	1	Substitution - Missense(1)	p.A574V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1720-1722)gCc>gTc		leucine-rich repeats and immunoglobulin-like domains 3							88.0	79.0	82.0					12																	59274443		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59274443G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1721C>T	12.37:g.59274443G>A	ENSP00000326759:p.Ala574Val					LRIG3_ENST00000379141.4_Missense_Mutation_p.A514V	p.A574V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	2007	-			574			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.1721C>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915777	0.52546	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.40476	1.03;1.03	6.04	6.04	0.98038	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.714336	0.11489	N	0.558920	T	0.41789	0.1174	L	0.56769	1.78	0.25738	N	0.98519	B;B	0.20164	0.018;0.042	B;B	0.27380	0.079;0.022	T	0.25606	-1.0127	9	.	.	.	.	9.4956	0.38986	0.0764:0.1865:0.7371:0.0	.	514;574	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	V	514;574	ENSP00000368436:A514V;ENSP00000326759:A574V	.	A	-	2	0	LRIG3	57560710	1.000000	0.71417	0.994000	0.49952	0.856000	0.48823	3.394000	0.52551	2.873000	0.98535	0.561000	0.74099	GCC		0.478	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		3	49	0	0	0	0.009096	0	3	49				
AKR1D1	6718	broad.mit.edu	37	7	137792293	137792293	+	Silent	SNP	C	C	T			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr7:137792293C>T	ENST00000242375.3	+	7	864	c.822C>T	c.(820-822)agC>agT	p.S274S	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Silent_p.S233S|AKR1D1_ENST00000432161.1_Silent_p.S274S	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	274					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	TTCCTAAAAGCTTTAATCTTG	0.358																																						ENST00000242375.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(820-822)agC>agT		aldo-keto reductase family 1, member D1							90.0	89.0	89.0					7																	137792293		2203	4300	6503	SO:0001819	synonymous_variant	6718				androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137792293C>T	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.822C>T	7.37:g.137792293C>T						AKR1D1_ENST00000411726.2_Silent_p.S233S|AKR1D1_ENST00000432161.1_Silent_p.S274S|AKR1D1_ENST00000468877.2_3'UTR	p.S274S	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN			7	864	+			274					A1L4P6|A8K060|B4DPN3|B4DPN8	Silent	SNP	ENST00000242375.3	37	c.822C>T	CCDS5846.1																																																																																				0.358	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		7	150	0	0	0	0.029380	0	7	150				
OR10A7	121364	broad.mit.edu	37	12	55614961	55614961	+	Silent	SNP	G	G	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr12:55614961G>A	ENST00000326258.1	+	1	153	c.153G>A	c.(151-153)gtG>gtA	p.V51V		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V51V(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TTACCAGTGTGGATCTCGCAC	0.398																																						ENST00000326258.1																			1	Substitution - coding silent(1)	p.V51V(1)	skin(1)	endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(151-153)gtG>gtA		olfactory receptor, family 10, subfamily A, member 7							249.0	244.0	246.0					12																	55614961		2203	4300	6503	SO:0001819	synonymous_variant	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55614961G>A	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.153G>A	12.37:g.55614961G>A							p.V51V	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	153	+			51					Q6IFD5|Q96R19	Silent	SNP	ENST00000326258.1	37	c.153G>A	CCDS31815.1																																																																																				0.398	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			7	266	0	0	0	0.008291	0	7	266				
CDCP1	64866	broad.mit.edu	37	3	45135081	45135081	+	Silent	SNP	G	G	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr3:45135081G>A	ENST00000296129.1	-	6	1449	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	439	CUB.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCCACAGGCAGGTGGAGGATG	0.592																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(1315-1317)Ctg>Ttg		CUB domain containing protein 1							123.0	115.0	118.0					3																	45135081		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45135081G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1315C>T	3.37:g.45135081G>A							p.L439L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	6	1449	-			439			CUB.		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.1315C>T	CCDS2727.1																																																																																				0.592	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		8	117	0	0	0	0.004482	0	8	117				
ATM	472	broad.mit.edu	37	11	108216586	108216586	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr11:108216586G>T	ENST00000452508.2	+	59	8724	c.8535G>T	c.(8533-8535)tgG>tgT	p.W2845C	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.W2845C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2845	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.W2845*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CAGCTATTTGGTTTGAGAAGC	0.373			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		1	Substitution - Nonsense(1)	p.W2845*(1)	NS(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8533-8535)tgG>tgT	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							158.0	162.0	161.0					11																	108216586		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108216586G>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8535G>T	11.37:g.108216586G>T	ENSP00000388058:p.Trp2845Cys	TSP Lung(14;0.12)				C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.W2845C	p.W2845C	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	58	8920	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2845			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8535G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737759	0.89573	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83075	-1.68;-1.68	5.64	5.64	0.86602	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96828	0.9609	10	0.87932	D	0	.	19.6889	0.95989	0.0:0.0:1.0:0.0	.	2845	Q13315	ATM_HUMAN	C	2845	ENSP00000278616:W2845C;ENSP00000388058:W2845C	ENSP00000278616:W2845C	W	+	3	0	ATM	107721796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.847000	0.99503	2.650000	0.89964	0.650000	0.86243	TGG		0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		98	80	1	0	1.74666e-38	0.014410	2.4145e-38	98	80				
RUFY2	55680	broad.mit.edu	37	10	70164495	70164495	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr10:70164495A>T	ENST00000602465.1	-	2	211	c.111T>A	c.(109-111)gaT>gaA	p.D37E	RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000388768.2_Missense_Mutation_p.D72E|RUFY2_ENST00000399200.2_Missense_Mutation_p.D37E|RUFY2_ENST00000342616.4_Missense_Mutation_p.D37E|RUFY2_ENST00000472394.2_5'UTR			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	86						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GATAGTCAGAATCCAAAGTGC	0.393																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(214-216)gaT>gaA		RUN and FYVE domain containing 2							134.0	132.0	132.0					10																	70164495		1902	4108	6010	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70164495A>T	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.111T>A	10.37:g.70164495A>T	ENSP00000473462:p.Asp37Glu					RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Missense_Mutation_p.D37E|RUFY2_ENST00000399200.2_Missense_Mutation_p.D37E|RUFY2_ENST00000342616.4_Missense_Mutation_p.D37E|RUFY2_ENST00000454950.2_Intron	p.D72E	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			2	542	-			86					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.216T>A		.	.	.	.	.	.	.	.	.	.	A	19.49	3.838190	0.71373	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000342616	T;T;T	0.12039	2.72;2.72;2.72	4.5	0.733	0.18289	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	M	0.64997	1.995	0.80722	D	1	P;P;D;P	0.61697	0.617;0.811;0.99;0.811	B;P;D;P	0.72625	0.207;0.855;0.978;0.855	T	0.00948	-1.1504	10	0.48119	T	0.1	.	8.3991	0.32574	0.6594:0.0:0.3406:0.0	.	37;37;37;72	Q5TC51;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	E	72;37;37	ENSP00000373420:D72E;ENSP00000382151:D37E;ENSP00000341727:D37E	ENSP00000341727:D37E	D	-	3	2	RUFY2	69834501	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.954000	0.40362	0.263000	0.21812	0.459000	0.35465	GAT		0.393	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		6	88	0	0	0	0.021553	0	6	88				
TRAPPC10	7109	broad.mit.edu	37	21	45483558	45483558	+	Silent	SNP	G	G	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr21:45483558G>A	ENST00000291574.4	+	7	1105	c.930G>A	c.(928-930)ctG>ctA	p.L310L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	310					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCAGTTACCTGTTCTCTCGCC	0.582																																						ENST00000291574.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(928-930)ctG>ctA		trafficking protein particle complex 10							122.0	113.0	116.0					21																	45483558		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45483558G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.930G>A	21.37:g.45483558G>A							p.L310L	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			7	1105	+			310					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.930G>A	CCDS13704.1																																																																																				0.582	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		4	73	0	0	0	0.021553	0	4	73				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)Agt>Ggt																																						SO:0001583	missense	0							g.chr20:29628299A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G	p.S101G							6	681	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	73	0	0	0	0.038147	0	3	73				
HAPLN1	1404	broad.mit.edu	37	5	82940234	82940234	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr5:82940234C>A	ENST00000274341.4	-	4	1573	c.723G>T	c.(721-723)tgG>tgT	p.W241C		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	241	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	TATCTTTATCCCAAAATCCGT	0.448																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(721-723)tgG>tgT		hyaluronan and proteoglycan link protein 1							63.0	69.0	67.0					5																	82940234		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940234C>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.723G>T	5.37:g.82940234C>A	ENSP00000274341:p.Trp241Cys						p.W241C	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	4	1573	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	241			Link 1.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.723G>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911738	0.52439	.	.	ENSG00000145681	ENST00000274341;ENST00000510978	T;T	0.09255	3.0;3.0	5.5	5.5	0.81552	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.049974	0.85682	D	0.000000	T	0.07908	0.0198	N	0.08118	0	0.80722	D	1	P	0.43662	0.814	B	0.42386	0.386	T	0.21690	-1.0238	10	0.87932	D	0	.	14.0021	0.64439	0.0:0.9274:0.0:0.0726	.	241	P10915	HPLN1_HUMAN	C	241	ENSP00000274341:W241C;ENSP00000422592:W241C	ENSP00000274341:W241C	W	-	3	0	HAPLN1	82975990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.092000	0.30927	2.733000	0.93635	0.650000	0.86243	TGG		0.448	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		12	90	1	0	0.00010058	0.013537	0.000135064	12	90				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1				BMS1 pseudogene 20																		CAGACTAAAGGCAAACAAGGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664743G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664743G>A								NR_027293.1						0	924	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	19	0	0	0	0.014758	0	5	19				
SH3RF3	344558	broad.mit.edu	37	2	110036027	110036027	+	Silent	SNP	G	G	A	rs368091662	byFrequency	TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr2:110036027G>A	ENST00000309415.6	+	5	1332	c.1332G>A	c.(1330-1332)acG>acA	p.T444T		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	444							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CTACCCCCACGGCTGTCCCAC	0.612													G|||	4	0.000798722	0.0	0.0	5008	,	,		17427	0.0		0.0	False		,,,				2504	0.0041					ENST00000309415.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1330-1332)acG>acA		SH3 domain containing ring finger 3		G		0,4044		0,0,2022	29.0	33.0	32.0		1332	-1.9	0.0	2		32	1,8359		0,1,4179	no	coding-synonymous	SH3RF3	NM_001099289.1		0,1,6201	AA,AG,GG		0.012,0.0,0.0081		444/883	110036027	1,12403	2022	4180	6202	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:110036027G>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1332G>A	2.37:g.110036027G>A							p.T444T	NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN			5	1332	+			444					A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.1332G>A																																																																																					0.612	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		2	3	0	0	0	0.004672	0	2	3				
EGFL6	25975	broad.mit.edu	37	X	13624630	13624630	+	Missense_Mutation	SNP	T	T	C	rs151014946	byFrequency	TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chrX:13624630T>C	ENST00000361306.1	+	6	910	c.653T>C	c.(652-654)aTa>aCa	p.I218T	EGFL6_ENST00000380602.3_Missense_Mutation_p.I218T	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	218					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TATGACTGTATAGGTAAGATT	0.398																																						ENST00000361306.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						c.(652-654)aTa>aCa		EGF-like-domain, multiple 6							193.0	176.0	182.0					X																	13624630		2203	4300	6503	SO:0001583	missense	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13624630T>C	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.653T>C	X.37:g.13624630T>C	ENSP00000355126:p.Ile218Thr					EGFL6_ENST00000380602.3_Missense_Mutation_p.I218T	p.I218T	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN			6	910	+			218					B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	c.653T>C	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	T	4.823	0.152987	0.09185	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.87412	-2.25;-2.25	5.25	4.04	0.47022	EGF-like calcium-binding (1);	0.486110	0.22288	N	0.062034	T	0.70037	0.3178	N	0.04669	-0.19	0.23673	N	0.997146	B;B	0.20887	0.003;0.049	B;B	0.18561	0.006;0.022	T	0.52866	-0.8518	10	0.11182	T	0.66	.	11.1036	0.48190	0.0:0.0:0.1531:0.8469	.	218;218	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	T	218	ENSP00000355126:I218T;ENSP00000369976:I218T	ENSP00000355126:I218T	I	+	2	0	EGFL6	13534551	1.000000	0.71417	0.463000	0.27130	0.017000	0.09413	4.550000	0.60733	0.619000	0.30197	0.432000	0.28606	ATA		0.398	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		17	180	0	0	0	0.008871	0	17	180				
MST1L	11223	broad.mit.edu	37	1	17083652	17083652	+	RNA	SNP	C	C	T	rs113710576		TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr1:17083652C>T	ENST00000455405.2	-	0	936							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										aaatctcaaccttgagtacaa	0.388																																						ENST00000455405.2																			0																																																			0							g.chr1:17083652C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083652C>T														0	936	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.388	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		3	22	0	0	0	0.009096	0	3	22				
TMEM35	59353	broad.mit.edu	37	X	100349805	100349805	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chrX:100349805G>A	ENST00000372930.4	+	2	647	c.364G>A	c.(364-366)Gga>Aga	p.G122R	TMEM35_ENST00000478351.1_3'UTR|TRMT2B-AS1_ENST00000443801.2_RNA	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	122						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TCTGGTGTTTGGAATCCTGCT	0.557																																						ENST00000372930.4																			0				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						c.(364-366)Gga>Aga		transmembrane protein 35							171.0	130.0	144.0					X																	100349805		2203	4300	6503	SO:0001583	missense	59353					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane		g.chrX:100349805G>A	AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.364G>A	X.37:g.100349805G>A	ENSP00000362021:p.Gly122Arg					TMEM35_ENST00000478351.1_3'UTR	p.G122R	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN			2	647	+			122					Q9H7Y3	Missense_Mutation	SNP	ENST00000372930.4	37	c.364G>A	CCDS14478.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037794	0.75617	.	.	ENSG00000126950	ENST00000372930;ENST00000444892	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69198	-0.5208	9	0.29301	T	0.29	-9.396	18.3931	0.90490	0.0:0.0:1.0:0.0	.	122	Q53FP2	TMM35_HUMAN	R	122;81	.	ENSP00000362021:G122R	G	+	1	0	TMEM35	100236461	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.194000	0.94962	2.284000	0.76573	0.594000	0.82650	GGA		0.557	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1	NM_021637		17	131	0	0	0	0.038395	0	17	131				
CCDC178	374864	broad.mit.edu	37	18	30554616	30554616	+	Silent	SNP	T	T	C			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr18:30554616T>C	ENST00000383096.3	-	22	2600	c.2418A>G	c.(2416-2418)acA>acG	p.T806T	CCDC178_ENST00000300227.8_Silent_p.T768T|CCDC178_ENST00000579916.1_Silent_p.T126T|CCDC178_ENST00000579947.1_Silent_p.T806T|CCDC178_ENST00000403303.1_Silent_p.T806T|CCDC178_ENST00000581852.1_Silent_p.T11T|CCDC178_ENST00000402325.1_Silent_p.T756T|CCDC178_ENST00000406524.2_Silent_p.T830T|CCDC178_ENST00000583930.1_Silent_p.T830T			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	806																	CCTGCCACAGTGTGTGCATCC	0.493																																						ENST00000383096.3																			0											c.(2416-2418)acA>acG		coiled-coil domain containing 178							55.0	49.0	51.0					18																	30554616		2203	4300	6503	SO:0001819	synonymous_variant	374864							g.chr18:30554616T>C	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2418A>G	18.37:g.30554616T>C						CCDC178_ENST00000402325.1_Silent_p.T756T|CCDC178_ENST00000579947.1_Silent_p.T806T|CCDC178_ENST00000403303.1_Silent_p.T806T|CCDC178_ENST00000581852.1_Silent_p.T11T|CCDC178_ENST00000406524.2_Silent_p.T830T|CCDC178_ENST00000579916.1_Silent_p.T126T|CCDC178_ENST00000583930.1_Silent_p.T830T|CCDC178_ENST00000300227.8_Silent_p.T768T	p.T806T							22	2600	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	c.2418A>G	CCDS42424.1																																																																																				0.493	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		12	19	0	0	0	0.013537	0	12	19				
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	3'UTR	SNP	G	G	C	rs5993363		TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846025G>C																												ENST00000412938.1:c.*3380G>C	22.37:g.18846025G>C														0	3383	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	30	0	0	0	0.009096	0	3	30				
KDM6B	23135	broad.mit.edu	37	17	7752257	7752257	+	Missense_Mutation	SNP	C	C	T	rs200066890	byFrequency	TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr17:7752257C>T	ENST00000448097.2	+	11	2982	c.2651C>T	c.(2650-2652)gCg>gTg	p.A884V	KDM6B_ENST00000254846.5_Missense_Mutation_p.A884V			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	884	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGCGCAGGGCGGGCGAAGAG	0.692													C|||	2	0.000399361	0.0	0.0	5008	,	,		5923	0.002		0.0	False		,,,				2504	0.0					ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2650-2652)gCg>gTg		lysine (K)-specific demethylase 6B																																				SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752257C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2651C>T	17.37:g.7752257C>T	ENSP00000412513:p.Ala884Val					KDM6B_ENST00000448097.2_Missense_Mutation_p.A884V	p.A884V	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	3040	+			884			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2651C>T		.	.	.	.	.	.	.	.	.	.	C	9.856	1.194921	0.22037	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.77489	-1.1;-1.1	4.47	-0.204	0.13200	.	0.652904	0.15604	N	0.253750	T	0.55878	0.1948	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.0;0.001	T	0.39781	-0.9597	10	0.27082	T	0.32	-1.1734	7.3404	0.26633	0.0:0.5814:0.257:0.1616	.	884;884	O15054;O15054-1	KDM6B_HUMAN;.	V	884	ENSP00000254846:A884V;ENSP00000412513:A884V	ENSP00000254846:A884V	A	+	2	0	KDM6B	7692982	0.389000	0.25205	0.285000	0.24819	0.954000	0.61252	0.132000	0.15891	0.226000	0.20979	-0.448000	0.05591	GCG		0.692	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		3	12	0	0	0	0.004672	0	3	12				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	38	0	0	0	0.004672	0	3	38				
STRC	161497	broad.mit.edu	37	15	43896265	43896265	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr15:43896265T>C	ENST00000450892.2	-	22	4381	c.4304A>G	c.(4303-4305)gAg>gGg	p.E1435G	STRC_ENST00000541030.1_Missense_Mutation_p.E662G|RNU6-554P_ENST00000410466.1_RNA	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1435					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AAGCTGTGGCTCCCTACACAG	0.557																																						ENST00000450892.2																			0				skin(4)	4						c.(4303-4305)gAg>gGg		stereocilin							42.0	41.0	42.0					15																	43896265		2200	4298	6498	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43896265T>C	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4304A>G	15.37:g.43896265T>C	ENSP00000401513:p.Glu1435Gly					STRC_ENST00000541030.1_Missense_Mutation_p.E662G	p.E1435G	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	22	4381	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1435						Missense_Mutation	SNP	ENST00000450892.2	37	c.4304A>G	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.598909	0.00857	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.77229	-1.07;-1.08	5.6	2.04	0.26737	.	0.895753	0.09511	N	0.792309	T	0.54224	0.1845	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.36261	-0.9755	9	0.07990	T	0.79	0.3255	4.6195	0.12442	0.0:0.5088:0.1533:0.3379	.	662;1435	F5GXA4;Q7RTU9	.;STRC_HUMAN	G	1435;1435;662	ENSP00000401513:E1435G;ENSP00000440413:E662G	ENSP00000299992:E1435G	E	-	2	0	STRC	41683557	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	0.803000	0.27083	-0.042000	0.13535	-1.071000	0.02255	GAG		0.557	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		3	22	0	0	0	0.009096	0	3	22				
DNAH9	1770	broad.mit.edu	37	17	11584043	11584043	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr17:11584043C>G	ENST00000262442.4	+	19	3648	c.3580C>G	c.(3580-3582)Ctg>Gtg	p.L1194V	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1194V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1194	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGCAGGAGCTGCCTGAGAA	0.527																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(3580-3582)Ctg>Gtg		dynein, axonemal, heavy chain 9							64.0	52.0	56.0					17																	11584043		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11584043C>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3580C>G	17.37:g.11584043C>G	ENSP00000262442:p.Leu1194Val					DNAH9_ENST00000454412.2_Missense_Mutation_p.L1194V	p.L1194V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	19	3648	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1194			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3580C>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120361	0.56613	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.33216	1.47;1.42	5.37	3.32	0.38043	.	0.088829	0.47093	D	0.000260	T	0.59528	0.2200	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.69030	-0.5253	10	0.87932	D	0	.	12.9572	0.58434	0.0:0.8591:0.0:0.1409	.	1194	Q9NYC9	DYH9_HUMAN	V	1194	ENSP00000262442:L1194V;ENSP00000414874:L1194V	ENSP00000262442:L1194V	L	+	1	2	DNAH9	11524768	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	1.664000	0.37439	1.384000	0.46424	0.563000	0.77884	CTG		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	20	0	0	0	0.004672	0	3	20				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	55	0	0	0	0.004672	0	3	55				
INPPL1	3636	broad.mit.edu	37	11	71943766	71943766	+	Silent	SNP	C	C	T			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr11:71943766C>T	ENST00000298229.2	+	15	2013	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	INPPL1_ENST00000541756.1_Silent_p.F361F|INPPL1_ENST00000538751.1_Silent_p.F361F	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	603					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CACACCTCTTCTGGTTTGGGG	0.582																																						ENST00000298229.2																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1807-1809)ttC>ttT		inositol polyphosphate phosphatase-like 1							92.0	89.0	90.0					11																	71943766		2200	4293	6493	SO:0001819	synonymous_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71943766C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1809C>T	11.37:g.71943766C>T						INPPL1_ENST00000538751.1_Silent_p.F361F|INPPL1_ENST00000541756.1_Silent_p.F361F	p.F603F	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			15	2013	+			603					B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	c.1809C>T	CCDS8213.1																																																																																				0.582	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		6	93	0	0	0	0.029380	0	6	93				
DNAJB5	25822	broad.mit.edu	37	9	34997244	34997244	+	Silent	SNP	A	A	C			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr9:34997244A>C	ENST00000541010.1	+	3	4047	c.1035A>C	c.(1033-1035)ctA>ctC	p.L345L	DNAJB5_ENST00000545841.1_Silent_p.L345L|DNAJB5_ENST00000335998.3_Silent_p.L379L|DNAJB5_ENST00000312316.5_Silent_p.L345L|DNAJB5_ENST00000453597.3_Silent_p.L459L|DNAJB5_ENST00000454002.2_Silent_p.L417L			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	345					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGCAGCACCTACCCTGTTCCT	0.527																																						ENST00000541010.1																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(1033-1035)ctA>ctC		DnaJ (Hsp40) homolog, subfamily B, member 5							82.0	86.0	84.0					9																	34997244		2203	4300	6503	SO:0001819	synonymous_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34997244A>C	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.1035A>C	9.37:g.34997244A>C						DNAJB5_ENST00000453597.3_Silent_p.L459L|DNAJB5_ENST00000335998.3_Silent_p.L379L|DNAJB5_ENST00000454002.2_Silent_p.L417L|DNAJB5_ENST00000545841.1_Silent_p.L345L|DNAJB5_ENST00000312316.5_Silent_p.L345L	p.L345L			O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		3	4047	+			345					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.1035A>C	CCDS35007.1																																																																																				0.527	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			7	49	0	0	0	0.016723	0	7	49				
ZNF83	55769	broad.mit.edu	37	19	53122295	53122295	+	5'UTR	SNP	A	A	G	rs11669959	byFrequency	TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr19:53122295A>G	ENST00000544146.1	-	0	188				ZNF83_ENST00000601257.1_Silent_p.D12D|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000596930.1_Silent_p.D12D|ZNF83_ENST00000597161.1_Silent_p.D12D|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000600714.1_Silent_p.D12D|ZNF83_ENST00000541777.2_5'Flank|ZNF83_ENST00000594682.2_Silent_p.D12D	NM_001105549.1	NP_001099019.1	P51522	ZNF83_HUMAN	zinc finger protein 83						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTATGGCCACATCCCTGAATG	0.433																																						ENST00000600714.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(34-36)gaT>gaC		zinc finger protein 83																																				SO:0001623	5_prime_UTR_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53122295A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000544146.1:c.-554T>C	19.37:g.53122295A>G						ZNF83_ENST00000601257.1_Silent_p.D12D|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000597161.1_Silent_p.D12D|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000596930.1_Silent_p.D12D	p.D12D			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	4	318	-			111					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000544146.1	37	c.36T>C	CCDS12854.1																																																																																				0.433	ZNF83-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018300		4	194	0	0	0	0.008291	0	4	194				
VLDLR	7436	broad.mit.edu	37	9	2635558	2635558	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr9:2635558A>G	ENST00000382100.3	+	2	544	c.188A>G	c.(187-189)gAt>gGt	p.D63G	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.D63G	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	63	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GACGGCAGTGATGAAAAGAAC	0.373																																						ENST00000382100.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(187-189)gAt>gGt		very low density lipoprotein receptor							355.0	352.0	353.0					9																	2635558		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2635558A>G		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.188A>G	9.37:g.2635558A>G	ENSP00000371532:p.Asp63Gly					VLDLR_ENST00000382099.2_Missense_Mutation_p.D63G|RP11-125B21.2_ENST00000599229.1_RNA	p.D63G	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	2	544	+			63			LDL-receptor class A 1.		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.188A>G	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.811618	0.90707	.	.	ENSG00000147852	ENST00000382100;ENST00000382096;ENST00000382099	D;D;D	0.99220	-5.58;-5.58;-5.58	5.96	5.96	0.96718	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.52532	D	0.000077	D	0.99729	0.9894	H	0.99238	4.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96998	0.9727	10	0.87932	D	0	.	16.4277	0.83824	1.0:0.0:0.0:0.0	.	63;63;63	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	G	63	ENSP00000371532:D63G;ENSP00000371528:D63G;ENSP00000371531:D63G	ENSP00000371528:D63G	D	+	2	0	VLDLR	2625558	1.000000	0.71417	0.988000	0.46212	0.936000	0.57629	9.339000	0.96797	2.279000	0.76181	0.533000	0.62120	GAT		0.373	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		5	140	0	0	0	0.014758	0	5	140				
SHB	6461	broad.mit.edu	37	9	38068356	38068356	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr9:38068356delT	ENST00000377707.3	-	1	852	c.287delA	c.(286-288)tacfs	p.Y96fs	SHB_ENST00000377700.4_Frame_Shift_Del_p.Y96fs|RP11-613M10.9_ENST00000540557.1_Frame_Shift_Del_p.Y96fs	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	96	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		AGGCCCGTTGTAGGGGTCCTC	0.706																																						ENST00000377707.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(286-288)tcfs		Src homology 2 domain containing adaptor protein B							9.0	12.0	11.0					9																	38068356		1890	4118	6008	SO:0001589	frameshift_variant	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:38068356delT		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.287delA	9.37:g.38068356delT	ENSP00000366936:p.Tyr96fs					RP11-613M10.9_ENST00000540557.1_Frame_Shift_Del_p.Y96fs|SHB_ENST00000377700.4_Frame_Shift_Del_p.Y96fs	p.Y96fs	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	1	852	-		all_epithelial(88;0.122)	96			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Frame_Shift_Del	DEL	ENST00000377707.3	37	c.287delA	CCDS43806.1																																																																																				0.706	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			2	4						2	4	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	858	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2572-2577)agt>ag		KIAA1462				16,121,147,3686		2,1,1,10,9,1,101,3,139,1718						-7.0	0.0			46	4,50,242,7744		0,0,1,3,0,0,50,8,225,3733	no	codingComplex	KIAA1462	NM_020848.2		2,1,2,13,9,1,151,11,364,5451	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.6816,7.1537,4.8293				20,171,389,11430				SO:0001651	inframe_deletion	57608							g.chr10:30316501_30316503delCTG	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2574_2576delCAG	10.37:g.30316510_30316512delCTG	ENSP00000364526:p.Ser859del						p.SS858del	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2675_2677	-			858			Ser-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	In_Frame_Del	DEL	ENST00000375377.1	37	c.2574_2576delCAG	CCDS41500.1																																																																																				0.571	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		7	101						7	101	---	---	---	---
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285				RP13-726E6.1_ENST00000534291.1_lincRNA																							CAGCACCCCATGGGGGGGCCCT	0.5																																						ENST00000527970.1																			0																																																			0							g.chr11:3552650_3552651insG																													11.37:g.3552657_3552657dupG														0	285	-									RNA	INS	ENST00000527970.1	37																																																																																						0.500	RP13-726E6.2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000392273.1			5	10						5	10	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	PPP1R13L_ENST00000418234.2_5'Flank|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(631-636)cgg>cg		CD3e molecule, epsilon associated protein			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR	p.RK211del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	211					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		9	166						9	166	---	---	---	---
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	lincRNA	INS	-	-	A	rs397771084|rs58093396		TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174				MIR545_ENST00000385085.1_RNA|MIR374A_ENST00000362298.1_RNA					FTX transcript, XIST regulator (non-protein coding)																		acctgtcccttaaaaaaaaaaa	0.455													|||unknown(HR)	2504	0.663311	0.4841	0.4856	3775	,	,		12960	0.5714		0.5	False		,,,				2504	0.4581					ENST00000429124.1																			0																																																			0							g.chrX:73506653_73506654insA	AK057701		Xq13.2	2013-12-18	2011-04-21	2011-04-21	ENSG00000230590	ENSG00000230590		"""Long non-coding RNAs"", ""-"""	37190	non-coding RNA	RNA, long non-coding	"""five prime to XIST"""		"""non-protein coding RNA 182"", ""mir-374a-545 cluster host gene (non-protein coding)"""	NCRNA00182, MIR374AHG		12045143, 21254562, 21118898	Standard	NR_028379		Approved	LINC00182, FLJ33139	uc010nlq.1		OTTHUMG00000021850		X.37:g.73506664_73506664dupA														0	174	-									RNA	INS	ENST00000429124.1	37																																																																																						0.455	FTX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057255.2	NR_028379		6	3						6	3	---	---	---	---
