#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GJB5	2709	broad.mit.edu	37	1	35223743	35223743	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:35223743C>T	ENST00000338513.1	+	2	985	c.812C>T	c.(811-813)aCc>aTc	p.T271I	GJB4_ENST00000339480.1_5'Flank	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	271					cell communication (GO:0007154)|epidermis development (GO:0008544)|labyrinthine layer morphogenesis (GO:0060713)|spongiotrophoblast differentiation (GO:0060708)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GTGAAGAAAACCATCTTGTGA	0.567																																						ENST00000338513.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(811-813)aCc>aTc		gap junction protein, beta 5, 31.1kDa							47.0	46.0	47.0					1																	35223743		2203	4300	6503	SO:0001583	missense	2709				cell communication|epidermis development	connexon complex|integral to membrane		g.chr1:35223743C>T	BC004379	CCDS382.1	1p34.3	2008-05-14	2007-11-06		ENSG00000189280	ENSG00000189280		"""Ion channels / Gap junction proteins (connexins)"""	4287	protein-coding gene	gene with protein product	"""connexin 31.1"""	604493	"""gap junction protein, beta 5 (connexin 31.1)"", ""gap junction protein, beta 5"""			9843209	Standard	NM_005268		Approved	CX31.1	uc001bxu.4	O95377	OTTHUMG00000004053	ENST00000338513.1:c.812C>T	1.37:g.35223743C>T	ENSP00000340811:p.Thr271Ile						p.T271I	NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN			2	985	+		Myeloproliferative disorder(586;0.0393)	271					Q9UPA3	Missense_Mutation	SNP	ENST00000338513.1	37	c.812C>T	CCDS382.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398565	0.62177	.	.	ENSG00000189280	ENST00000338513	D	0.97959	-4.63	5.46	5.46	0.80206	.	0.280531	0.36303	N	0.002662	D	0.98349	0.9452	M	0.72894	2.215	0.41982	D	0.990809	D	0.76494	0.999	D	0.66716	0.946	D	0.99675	1.0997	10	0.87932	D	0	.	16.0293	0.80567	0.0:1.0:0.0:0.0	.	271	O95377	CXB5_HUMAN	I	271	ENSP00000340811:T271I	ENSP00000340811:T271I	T	+	2	0	GJB5	34996330	0.982000	0.34865	0.939000	0.37840	0.303000	0.27691	3.146000	0.50631	2.557000	0.86248	0.563000	0.77884	ACC		0.567	GJB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011561.1	NM_005268		19	21	19	21	---	---	---	---
THRAP3	9967	broad.mit.edu	37	1	36769470	36769470	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:36769470G>A	ENST00000354618.5	+	12	2944	c.2720G>A	c.(2719-2721)gGt>gAt	p.G907D	THRAP3_ENST00000469141.2_Missense_Mutation_p.G907D|SH3D21_ENST00000426732.2_5'Flank|SH3D21_ENST00000453908.2_5'Flank	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	907	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCCTCGGGGTCGGGGCCGG	0.597			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5				Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(2719-2721)gGt>gAt		thyroid hormone receptor associated protein 3							50.0	56.0	54.0					1																	36769470		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36769470G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2720G>A	1.37:g.36769470G>A	ENSP00000346634:p.Gly907Asp					THRAP3_ENST00000469141.2_Missense_Mutation_p.G907D	p.G907D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN			12	2944	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	907					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.2720G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876029	0.51695	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15834	2.39;2.39	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000003	T	0.21841	0.0526	L	0.35854	1.095	0.48040	D	0.999577	B	0.31209	0.313	B	0.39706	0.307	T	0.07539	-1.0767	10	0.87932	D	0	-6.5844	17.3199	0.87233	0.0:0.0:1.0:0.0	.	907	Q9Y2W1	TR150_HUMAN	D	907	ENSP00000346634:G907D;ENSP00000433825:G907D	ENSP00000346634:G907D	G	+	2	0	THRAP3	36542057	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	6.983000	0.76180	2.411000	0.81874	0.563000	0.77884	GGT		0.597	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		12	74	12	74	---	---	---	---
TARS2	80222	broad.mit.edu	37	1	150471026	150471026	+	Silent	SNP	A	A	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:150471026A>G	ENST00000369064.3	+	11	1321	c.1287A>G	c.(1285-1287)cgA>cgG	p.R429R	TARS2_ENST00000606933.1_Silent_p.R347R|TARS2_ENST00000369054.2_Silent_p.R299R|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	429					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGCCCCTGCGACTAGCTGACT	0.647																																						ENST00000369064.3																			0				cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35						c.(1285-1287)cgA>cgG		threonyl-tRNA synthetase 2, mitochondrial (putative)	L-Threonine(DB00156)						53.0	55.0	54.0					1																	150471026		2203	4300	6503	SO:0001819	synonymous_variant	80222				threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	g.chr1:150471026A>G	BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1287A>G	1.37:g.150471026A>G						TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000369054.2_Silent_p.R299R|TARS2_ENST00000606933.1_Silent_p.R347R	p.R429R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		11	1321	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		429					Q53GW7|Q96I50|Q9H9V2	Silent	SNP	ENST00000369064.3	37	c.1287A>G	CCDS952.1																																																																																				0.647	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035847.1	NM_025150		5	84	5	84	---	---	---	---
PLEKHA6	22874	broad.mit.edu	37	1	204228776	204228776	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:204228776T>C	ENST00000272203.3	-	8	933	c.617A>G	c.(616-618)aAg>aGg	p.K206R	PLEKHA6_ENST00000485632.1_5'Flank|PLEKHA6_ENST00000414478.1_Missense_Mutation_p.K226R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	206	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCCTCGAGTCTTGGCCTCTGG	0.612																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(616-618)aAg>aGg		pleckstrin homology domain containing, family A member 6							61.0	58.0	59.0					1																	204228776		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204228776T>C	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.617A>G	1.37:g.204228776T>C	ENSP00000272203:p.Lys206Arg					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.K226R	p.K206R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		8	933	-	all_cancers(21;0.0222)|Breast(84;0.179)		206			Pro-rich.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.617A>G	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075107	0.36566	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.09723	2.95;3.37	5.55	5.55	0.83447	.	0.410761	0.24904	N	0.034662	T	0.19927	0.0479	L	0.48362	1.52	0.36925	D	0.891575	D	0.58268	0.982	D	0.67548	0.952	T	0.13683	-1.0500	10	0.10111	T	0.7	-38.3033	9.8281	0.40925	0.0:0.0775:0.0:0.9225	.	206	Q9Y2H5	PKHA6_HUMAN	R	206;226	ENSP00000272203:K206R;ENSP00000402046:K226R	ENSP00000272203:K206R	K	-	2	0	PLEKHA6	202495399	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.303000	0.51858	2.102000	0.63906	0.459000	0.35465	AAG		0.612	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		42	43	42	43	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947227	237947227	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:237947227C>A	ENST00000366574.2	+	90	12532	c.12215C>A	c.(12214-12216)aCg>aAg	p.T4072K	RYR2_ENST00000542537.1_Missense_Mutation_p.T4056K|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.T4078K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4072					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGCGGAGACGGATGAGAAT	0.512																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12214-12216)aCg>aAg		ryanodine receptor 2 (cardiac)							40.0	38.0	39.0					1																	237947227		2005	4179	6184	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947227C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12215C>A	1.37:g.237947227C>A	ENSP00000355533:p.Thr4072Lys					RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.T4056K|RYR2_ENST00000360064.6_Missense_Mutation_p.T4078K	p.T4072K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12532	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4072					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12215C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732286	0.48939	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.82344	-0.1;-1.6;-0.1	5.85	4.94	0.65067	EF-hand-like domain (1);	0.078014	0.48767	D	0.000178	T	0.81346	0.4803	N	0.25144	0.715	0.80722	D	1	P;D	0.56287	0.941;0.975	P;P	0.53912	0.737;0.57	T	0.82466	-0.0443	10	0.46703	T	0.11	.	14.9927	0.71401	0.0:0.9318:0.0:0.0682	.	1046;4072	B4DGV4;Q92736	.;RYR2_HUMAN	K	4072;4078;4056;1046	ENSP00000355533:T4072K;ENSP00000353174:T4078K;ENSP00000443798:T4056K	ENSP00000353174:T4078K	T	+	2	0	RYR2	236013850	1.000000	0.71417	0.887000	0.34795	0.059000	0.15707	6.051000	0.71072	1.482000	0.48325	-0.140000	0.14226	ACG		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	12	5	12	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179438180	179438180	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr2:179438180T>G	ENST00000591111.1	-	276	67980	c.67756A>C	c.(67756-67758)Aaa>Caa	p.K22586Q	TTN_ENST00000342992.6_Missense_Mutation_p.K21659Q|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15354Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K15287Q|TTN_ENST00000460472.2_Missense_Mutation_p.K15162Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.K24227Q			Q8WZ42	TITIN_HUMAN	titin	22586	Fibronectin type-III 64. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGGTTTTTGGGCGGATCA	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(72679-72681)Aaa>Caa		titin							93.0	93.0	93.0					2																	179438180		1902	4122	6024	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438180T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.67756A>C	2.37:g.179438180T>G	ENSP00000465570:p.Lys22586Gln					TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15354Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K22586Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K21659Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K15162Q|TTN_ENST00000359218.5_Missense_Mutation_p.K15287Q|TTN-AS1_ENST00000586831.1_RNA	p.K24227Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	72903	-			22586			Ig-like 121.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.72679A>C		.	.	.	.	.	.	.	.	.	.	T	9.973	1.226144	0.22542	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	6.08	3.63	0.41609	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28632	0.0709	N	0.02765	-0.5	0.31418	N	0.674658	B;B;B;B	0.16166	0.016;0.016;0.016;0.016	B;B;B;B	0.15052	0.012;0.012;0.012;0.012	T	0.24190	-1.0167	9	0.87932	D	0	.	9.4332	0.38624	0.0:0.0632:0.1221:0.8146	.	15162;15287;15354;22586	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	21659;15162;15354;15287;15160	ENSP00000343764:K21659Q;ENSP00000434586:K15162Q;ENSP00000340554:K15354Q;ENSP00000352154:K15287Q	ENSP00000340554:K15354Q	K	-	1	0	TTN	179146426	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.667000	0.46808	0.498000	0.27948	0.533000	0.62120	AAA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	114	3	114	---	---	---	---
HHIP	64399	broad.mit.edu	37	4	145567943	145567943	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr4:145567943G>A	ENST00000296575.3	+	1	771	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	HHIP-AS1_ENST00000503066.1_RNA|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.C39Y|HHIP-AS1_ENST00000508269.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	39	Arg-rich.				carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.C39Y(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AGGAGAAGGTGCCTGAATGGG	0.577																																						ENST00000296575.3																			1	Substitution - Missense(1)	p.C39Y(1)	lung(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(115-117)tGc>tAc		hedgehog interacting protein							85.0	93.0	90.0					4																	145567943		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145567943G>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.116G>A	4.37:g.145567943G>A	ENSP00000296575:p.Cys39Tyr					HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.C39Y	p.C39Y	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	1	771	+	all_hematologic(180;0.151)		39			Arg-rich.		Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.116G>A	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624803	0.46840	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	D;D	0.95482	-3.72;-3.72	5.11	5.11	0.69529	Folate receptor-like (1);	0.000000	0.85682	D	0.000000	D	0.97266	0.9106	M	0.62723	1.935	0.80722	D	1	D;P	0.76494	0.999;0.756	D;P	0.87578	0.998;0.59	D	0.98041	1.0382	10	0.87932	D	0	-11.1237	18.5565	0.91086	0.0:0.0:1.0:0.0	.	39;39	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	Y	39	ENSP00000296575:C39Y;ENSP00000408587:C39Y	ENSP00000296575:C39Y	C	+	2	0	HHIP	145787393	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.162000	0.89657	2.373000	0.80994	0.650000	0.86243	TGC		0.577	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			4	59	4	59	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23527460	23527460	+	Missense_Mutation	SNP	C	C	T	rs375086019		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:23527460C>T	ENST00000296682.3	+	11	2445	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	755					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTCG	0.582										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2263-2265)Cgg>Tgg		PR domain containing 9		C	TRP/ARG	0,4220		0,0,2110	52.0	74.0	67.0		2263	0.6	0.7	5		67	2,8584		0,2,4291	no	missense	PRDM9	NM_020227.2	101	0,2,6401	TT,TC,CC		0.0233,0.0,0.0156	probably-damaging	755/895	23527460	2,12804	2110	4293	6403	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527460C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2263C>T	5.37:g.23527460C>T	ENSP00000296682:p.Arg755Trp	HNSCC(3;0.000094)					p.R755W	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2445	+			755					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.2263C>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	8.854	0.945239	0.18356	0.0	2.33E-4	ENSG00000164256	ENST00000296682	T	0.19806	2.12	2.65	0.551	0.17225	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38268	0.1034	M	0.78916	2.43	0.26567	N	0.973634	D	0.76494	0.999	P	0.58928	0.848	T	0.18650	-1.0330	9	0.87932	D	0	.	8.0201	0.30404	0.6337:0.3662:0.0:0.0	.	755	Q9NQV7	PRDM9_HUMAN	W	755	ENSP00000296682:R755W	ENSP00000296682:R755W	R	+	1	2	PRDM9	23563217	0.709000	0.27886	0.659000	0.29680	0.016000	0.09150	2.296000	0.43584	0.125000	0.18397	-0.516000	0.04426	CGG		0.582	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		10	154	10	154	---	---	---	---
C7	730	broad.mit.edu	37	5	40958242	40958242	+	Silent	SNP	T	T	C			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:40958242T>C	ENST00000313164.9	+	11	1727	c.1368T>C	c.(1366-1368)caT>caC	p.H456H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	456	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				ACCCCTGTCATTGCCGGCCTT	0.473																																						ENST00000313164.9																			0											c.(1366-1368)caT>caC		complement component 7							148.0	140.0	143.0					5																	40958242		1913	4119	6032	SO:0001819	synonymous_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40958242T>C	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1368T>C	5.37:g.40958242T>C							p.H456H	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			11	1727	+		Ovarian(839;0.0112)	456			MACPF.		Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	c.1368T>C	CCDS47201.1																																																																																				0.473	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			4	76	4	76	---	---	---	---
MLXIP	22877	broad.mit.edu	37	12	122613718	122613718	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr12:122613718G>T	ENST00000319080.7	+	4	773	c.641G>T	c.(640-642)cGc>cTc	p.R214L						MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TGGAAGAGCCGCATCGAGATT	0.547																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.7																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(640-642)cGc>cTc		MLX interacting protein							47.0	51.0	50.0					12																	122613718		1957	4147	6104	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122613718G>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.641G>T	12.37:g.122613718G>T	ENSP00000312834:p.Arg214Leu						p.R214L			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	4	773	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)				Required for cytoplasmic localization.			Missense_Mutation	SNP	ENST00000319080.7	37	c.641G>T		.	.	.	.	.	.	.	.	.	.	G	36	5.772968	0.96922	.	.	ENSG00000175727	ENST00000319080	T	0.31247	1.5	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.63598	-0.6601	9	0.72032	D	0.01	-22.044	19.0783	0.93171	0.0:0.0:1.0:0.0	.	214	Q9HAP2	MLXIP_HUMAN	L	214	ENSP00000312834:R214L	ENSP00000312834:R214L	R	+	2	0	MLXIP	121179672	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.776000	0.99001	2.504000	0.84457	0.655000	0.94253	CGC		0.547	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		3	21	3	21	---	---	---	---
IFT43	112752	broad.mit.edu	37	14	76543017	76543017	+	Intron	SNP	C	C	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr14:76543017C>A	ENST00000314067.6	+	6	329				IFT43_ENST00000238628.6_Missense_Mutation_p.A98D	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43						cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTGGGGCTGGCTTCATTGGAA	0.463																																						ENST00000238628.6																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(292-294)gCt>gAt		intraflagellar transport 43 homolog (Chlamydomonas)							114.0	99.0	104.0					14																	76543017		2203	4300	6503	SO:0001627	intron_variant	112752				cilium morphogenesis|intraflagellar retrograde transport			g.chr14:76543017C>A	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.296-5621C>A	14.37:g.76543017C>A						IFT43_ENST00000314067.6_Intron	p.A98D	NM_052873.2	NP_443105.2	Q96FT9	IFT43_HUMAN			4	298	+			97					B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	ENST00000314067.6	37	c.293C>A	CCDS41973.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476872	0.26511	.	.	ENSG00000119650	ENST00000238628	T	0.43688	0.94	3.79	0.864	0.19068	.	0.694352	0.14643	N	0.307049	T	0.19644	0.0472	.	.	.	0.09310	N	0.999997	P	0.36535	0.557	B	0.30105	0.111	T	0.14811	-1.0459	9	0.17369	T	0.5	-12.6066	6.2266	0.20711	0.3632:0.4409:0.1959:0.0	.	98	Q96FT9-2	.	D	98	ENSP00000238628:A98D	ENSP00000238628:A98D	A	+	2	0	IFT43	75612770	0.034000	0.19679	0.001000	0.08648	0.997000	0.91878	0.601000	0.24119	0.182000	0.20032	0.561000	0.74099	GCT		0.463	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		3	46	3	46	---	---	---	---
OTUD7A	161725	broad.mit.edu	37	15	31776773	31776773	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr15:31776773C>T	ENST00000307050.4	-	11	1597	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H	OTUD7A_ENST00000382902.1_Missense_Mutation_p.R509H	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	502					protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		cttctccttgcgctgcttctc	0.587																																						ENST00000382902.1																			0				endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1525-1527)cGc>cAc		OTU domain containing 7A							94.0	69.0	77.0					15																	31776773		2200	4300	6500	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31776773C>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1505G>A	15.37:g.31776773C>T	ENSP00000305926:p.Arg502His					OTUD7A_ENST00000307050.4_Missense_Mutation_p.R502H	p.R509H			Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	11	1618	-		all_lung(180;1.6e-09)	502					Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.1526G>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216917	0.79352	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.32515	1.45;1.45	4.88	4.88	0.63580	.	0.100526	0.64402	D	0.000011	T	0.43211	0.1237	N	0.22421	0.69	0.41016	D	0.985044	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	T	0.41556	-0.9502	10	0.44086	T	0.13	-24.4531	18.0667	0.89392	0.0:1.0:0.0:0.0	.	509;502	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	H	502;509	ENSP00000305926:R502H;ENSP00000372358:R509H	ENSP00000305926:R502H	R	-	2	0	OTUD7A	29564065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.082000	0.76851	2.241000	0.73720	0.650000	0.86243	CGC		0.587	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		5	13	5	13	---	---	---	---
EARS2	124454	broad.mit.edu	37	16	23555840	23555840	+	Silent	SNP	C	C	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr16:23555840C>G	ENST00000563459.1	-	3	486	c.480G>C	c.(478-480)acG>acC	p.T160T	EARS2_ENST00000563232.1_Silent_p.T160T|EARS2_ENST00000564501.1_Silent_p.T160T|EARS2_ENST00000449606.1_Silent_p.T160T|EARS2_ENST00000564987.1_5'UTR			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	160					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)	p.T160T(1)		central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CTTACCGGGGCGTCTGGTGGT	0.542																																						ENST00000449606.1																			1	Substitution - coding silent(1)	p.T160T(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(478-480)acG>acC		glutamyl-tRNA synthetase 2, mitochondrial	L-Glutamic Acid(DB00142)						43.0	48.0	46.0					16																	23555840		1958	4133	6091	SO:0001819	synonymous_variant	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23555840C>G	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.480G>C	16.37:g.23555840C>G						EARS2_ENST00000563459.1_Silent_p.T160T|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Silent_p.T160T|EARS2_ENST00000563232.1_Silent_p.T160T	p.T160T	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	3	511	-			160					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Silent	SNP	ENST00000563459.1	37	c.480G>C	CCDS42132.1																																																																																				0.542	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		5	22	5	22	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	62055221	62055221	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr16:62055221C>A	ENST00000577390.1	-	2	1041	c.87G>T	c.(85-87)atG>atT	p.M29I	CDH8_ENST00000584337.1_Missense_Mutation_p.M29I|CDH8_ENST00000299345.6_Missense_Mutation_p.M29I|CDH8_ENST00000577730.1_Missense_Mutation_p.M29I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	29					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATCGGAGCCATGTAAATGC	0.448																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(85-87)atG>atT		cadherin 8, type 2							79.0	80.0	79.0					16																	62055221		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055221C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.87G>T	16.37:g.62055221C>A	ENSP00000462701:p.Met29Ile					CDH8_ENST00000584337.1_Missense_Mutation_p.M29I|CDH8_ENST00000577730.1_Missense_Mutation_p.M29I|CDH8_ENST00000299345.6_Missense_Mutation_p.M29I	p.M29I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	2	1041	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	29					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.87G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312150	0.40895	.	.	ENSG00000150394	ENST00000299345	T	0.53640	0.61	6.17	5.21	0.72293	.	0.751666	0.13295	N	0.398703	T	0.41581	0.1165	L	0.36672	1.1	0.31845	N	0.62303	B	0.06786	0.001	B	0.06405	0.002	T	0.41324	-0.9515	10	0.20046	T	0.44	.	17.5427	0.87852	0.0:0.8763:0.1237:0.0	.	29	P55286	CADH8_HUMAN	I	29	ENSP00000299345:M29I	ENSP00000299345:M29I	M	-	3	0	CDH8	60612722	1.000000	0.71417	0.930000	0.37139	0.846000	0.48090	5.521000	0.67086	1.586000	0.49944	0.655000	0.94253	ATG		0.448	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		7	62	7	62	---	---	---	---
KRT25	147183	broad.mit.edu	37	17	38906790	38906790	+	Silent	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr17:38906790C>T	ENST00000312150.4	-	6	1077	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_181534.3	NP_853512.1			keratin 25									p.A339A(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTGGATCTGCGCCAGCTGCG	0.562																																						ENST00000312150.4																			2	Substitution - coding silent(2)	p.A339A(2)	large_intestine(1)|prostate(1)	endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(1015-1017)gcG>gcA		keratin 25							139.0	141.0	140.0					17																	38906790		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38906790C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1017G>A	17.37:g.38906790C>T							p.A339A	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			6	1077	-		Breast(137;0.00526)	339			Coil 2.|Rod.			Silent	SNP	ENST00000312150.4	37	c.1017G>A	CCDS11373.1																																																																																				0.562	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		10	219	10	219	---	---	---	---
KRT33A	3883	broad.mit.edu	37	17	39502452	39502452	+	Silent	SNP	A	A	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr17:39502452A>G	ENST00000007735.3	-	7	1178	c.1134T>C	c.(1132-1134)tgT>tgC	p.C378C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	378	Tail.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGGACTTGTCACATGCATTGG	0.522																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(1132-1134)tgT>tgC		keratin 33A							120.0	111.0	114.0					17																	39502452		2203	4300	6503	SO:0001819	synonymous_variant	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39502452A>G	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.1134T>C	17.37:g.39502452A>G							p.C378C	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			7	1178	-		Breast(137;0.000496)	378			Tail.		B2RA87|Q6NTB9|Q6ZZB9	Silent	SNP	ENST00000007735.3	37	c.1134T>C	CCDS11388.1																																																																																				0.522	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		31	48	31	48	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56246187	56246187	+	Silent	SNP	C	C	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr18:56246187C>T	ENST00000361673.3	-	4	2034	c.1821G>A	c.(1819-1821)caG>caA	p.Q607Q	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	607						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTGCTCTGCCTGGGTTGAAA	0.458											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1819-1821)caG>caA		alpha-kinase 2							176.0	157.0	163.0					18																	56246187		2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246187C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1821G>A	18.37:g.56246187C>T			OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014	ALPK2_ENST00000587399.1_5'UTR	p.Q607Q	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	2034	-			607					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.1821G>A	CCDS11966.2																																																																																				0.458	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		37	16	37	16	---	---	---	---
NLRP12	91662	broad.mit.edu	37	19	54308673	54308673	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:54308673A>G	ENST00000324134.6	-	5	2443	c.2275T>C	c.(2275-2277)Tgc>Cgc	p.C759R	NLRP12_ENST00000354278.3_Missense_Mutation_p.C759R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C760R|NLRP12_ENST00000391773.1_Missense_Mutation_p.C760R|NLRP12_ENST00000391775.3_Missense_Mutation_p.C759R|NLRP12_ENST00000351894.4_Missense_Mutation_p.C759R|NLRP12_ENST00000535162.1_Missense_Mutation_p.C759R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C760R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	759					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGGTCCTCGCAGGCTGAGCTG	0.498																																						ENST00000324134.6																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80						c.(2275-2277)Tgc>Cgc		NLR family, pyrin domain containing 12							91.0	91.0	91.0					19																	54308673		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54308673A>G	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2275T>C	19.37:g.54308673A>G	ENSP00000319377:p.Cys759Arg					NLRP12_ENST00000351894.4_Missense_Mutation_p.C759R|NLRP12_ENST00000354278.3_Missense_Mutation_p.C759R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C760R|NLRP12_ENST00000391773.1_Missense_Mutation_p.C760R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C760R|NLRP12_ENST00000535162.1_Missense_Mutation_p.C759R|NLRP12_ENST00000391775.3_Missense_Mutation_p.C759R	p.C759R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	5	2443	-	Ovarian(34;0.19)		759					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.2275T>C	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	A	16.63	3.176982	0.57692	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61;0.61	3.32	3.32	0.38043	.	.	.	.	.	T	0.73822	0.3636	H	0.95982	3.75	0.53688	D	0.999979	D;D;D;D;D	0.89917	0.999;0.991;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.996;0.949;0.999;0.999;0.999	T	0.76247	-0.3029	9	0.38643	T	0.18	.	8.3282	0.32169	1.0:0.0:0.0:0.0	.	760;42;759;759;759	F2Z321;P59046-5;A8K407;A8MTQ2;P59046	.;.;.;.;NAL12_HUMAN	R	759;759;759;759;42;759;760;760;760	ENSP00000319377:C759R;ENSP00000438030:C759R;ENSP00000340473:C759R;ENSP00000346231:C759R;ENSP00000375655:C759R;ENSP00000375653:C760R;ENSP00000375652:C760R	ENSP00000319377:C759R	C	-	1	0	NLRP12	59000485	1.000000	0.71417	0.066000	0.19879	0.310000	0.27922	4.234000	0.58658	1.543000	0.49345	0.241000	0.17934	TGC		0.498	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		3	103	3	103	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16348168	16348168	+	Intron	SNP	C	C	A			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr20:16348168C>A	ENST00000354981.2	-	22	3656				KIF16B_ENST00000408042.1_Missense_Mutation_p.V1268F|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTCAGAAGGACTAGCGACTGG	0.483																																						ENST00000408042.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(3802-3804)Gtc>Ttc		kinesin family member 16B							104.0	94.0	97.0					20																	16348168		876	1991	2867	SO:0001627	intron_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16348168C>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3498+3062G>T	20.37:g.16348168C>A						KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000378003.2_Intron	p.V1268F	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN			23	3959	-			0			PX.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3802G>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724722	0.48833	.	.	ENSG00000089177	ENST00000408042	T	0.75260	-0.92	5.62	1.39	0.22231	.	0.513957	0.21299	N	0.076834	T	0.60676	0.2287	.	.	.	0.36423	D	0.864419	B	0.13145	0.007	B	0.16722	0.016	T	0.55805	-0.8083	9	0.87932	D	0	.	2.8106	0.05441	0.1222:0.5319:0.1334:0.2125	.	1268	Q96L93-2	.	F	1268	ENSP00000384164:V1268F	ENSP00000384164:V1268F	V	-	1	0	KIF16B	16296168	0.047000	0.20315	0.083000	0.20561	0.601000	0.36947	0.316000	0.19469	0.022000	0.15160	0.544000	0.68410	GTC		0.483	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		22	36	22	36	---	---	---	---
C20orf85	128602	broad.mit.edu	37	20	56726068	56726068	+	Silent	SNP	T	T	G			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr20:56726068T>G	ENST00000371168.3	+	1	109	c.48T>G	c.(46-48)ctT>ctG	p.L16L		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	16										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GCATGAACCTTGTGGGTCAGG	0.637																																						ENST00000371168.3																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13						c.(46-48)ctT>ctG		chromosome 20 open reading frame 85							61.0	59.0	60.0					20																	56726068		2202	4300	6502	SO:0001819	synonymous_variant	128602							g.chr20:56726068T>G	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.48T>G	20.37:g.56726068T>G							p.L16L	NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		1	109	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		16						Silent	SNP	ENST00000371168.3	37	c.48T>G	CCDS13465.1																																																																																				0.637	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		7	5	7	5	---	---	---	---
P2RY10	27334	broad.mit.edu	37	X	78216116	78216116	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chrX:78216116A>T	ENST00000171757.2	+	4	379	c.99A>T	c.(97-99)caA>caT	p.Q33H	P2RY10_ENST00000544091.1_Missense_Mutation_p.Q33H|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TGAAATTTCAATACTCCCTCT	0.428																																						ENST00000171757.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						c.(97-99)caA>caT		purinergic receptor P2Y, G-protein coupled, 10							182.0	139.0	154.0					X																	78216116		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216116A>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.99A>T	X.37:g.78216116A>T	ENSP00000171757:p.Gln33His					P2RY10_ENST00000544091.1_Missense_Mutation_p.Q33H|P2RY10_ENST00000475374.1_3'UTR	p.Q33H	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN			4	379	+			33					D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.99A>T	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	A	0.573	-0.840229	0.02692	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.37584	1.19;1.19	4.97	-0.379	0.12493	.	0.295867	0.31859	N	0.006947	T	0.27169	0.0666	L	0.53249	1.67	0.22639	N	0.99891	B	0.11235	0.004	B	0.12837	0.008	T	0.17806	-1.0357	10	0.54805	T	0.06	.	4.2524	0.10702	0.219:0.1063:0.5545:0.1202	.	33	O00398	P2Y10_HUMAN	H	33	ENSP00000443138:Q33H;ENSP00000171757:Q33H	ENSP00000171757:Q33H	Q	+	3	2	P2RY10	78102772	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	-0.280000	0.08468	-0.819000	0.04323	-3.484000	0.00034	CAA		0.428	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			8	61	8	61	---	---	---	---
