#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
EIF1AX	1964	broad.mit.edu	37	X	20156740	20156740	+	Splice_Site	SNP	C	C	T			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chrX:20156740C>T	ENST00000379607.5	-	2	220	c.17G>A	c.(16-18)gGt>gAt	p.G6D	snoU2-30_ENST00000365012.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|snoU2_19_ENST00000364722.1_RNA|EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	6					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ACCTCCTTTACCTGATGGTTT	0.299																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(16-18)gGt>gAt	eukaryotic translation initiation factor 1A, X-linked						130.0	120.0	123.0					X																	20156740		2203	4300	6503	SO:0001630	splice_region_variant	1964				cytosol	translation initiation factor activity	g.chrX:20156740C>T	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.17-1G>A	X.37:g.20156740C>T			EIF1AX_ENST00000379593.1_Intron	p.G6D	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	220	-			6		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Splice_Site	SNP	ENST00000379607.5	37	c.17G>A	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689024	0.68271	.	.	ENSG00000173674	ENST00000379607	T	0.45668	0.89	4.84	4.84	0.62591	4.84	4.84	0.62591	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.73885	0.3644	H	0.95780	3.72	0.80722	D	1	D	0.55800	0.973	D	0.63703	0.917	D	0.83652	0.0156	9	0.87932	D	0	.	17.4345	0.87547	0.0:1.0:0.0:0.0	.	6	P47813	IF1AX_HUMAN	D	6	ENSP00000368927:G6D	ENSP00000368927:G6D	G	-	2	0	0	EIF1AX	20066661	20066661	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.237000	0.78164	2.129000	0.65627	0.600000	0.82982	GGT		0.299	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1		115.075213	-25	-25	128	128		Missense_Mutation	34	120.959243	120.959243	4	0.894737	0	0	0	1	0	34	4	0.894737
MYH2	4620	broad.mit.edu	37	17	10426880	10426880	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr17:10426880C>T	ENST00000245503.5	-	37	5789	c.5405G>A	c.(5404-5406)cGt>cAt	p.R1802H	MYH2_ENST00000397183.2_Missense_Mutation_p.R1802H|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1802					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCATCCAGACGGAGCTGCAG	0.572																																						ENST00000245503.5											0			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(5404-5406)cGt>cAt	myosin, heavy chain 2, skeletal muscle, adult						105.0	106.0	105.0					17																	10426880		2203	4300	6503	SO:0001583	missense	4620			muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10426880C>T			CCDS11156.1	CCDS11156.1	17p13.1	2014-02-04	2006-09-29		2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414	ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	"""Myosins / Myosin superfamily : Class II"""	7572	7572	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			160740	160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	7545970, 11889243	Standard	Standard	NM_001100112	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	uc010coi.3	Q9UKX2	Q9UKX2	OTTHUMG00000130363	OTTHUMG00000130363	ENST00000245503.5:c.5405G>A	17.37:g.10426880C>T	ENSP00000245503:p.Arg1802His		MYH2_ENST00000397183.2_Missense_Mutation_p.R1802H|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	p.R1802H	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			37	5789	-			1802		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5405G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.717717	0.89205	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.82526	-1.62;-1.62	5.5	5.5	0.81552	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.40144	U	0.001168	D	0.91576	0.7339	H	0.97940	4.11	0.58432	D	0.999999	P	0.38148	0.62	B	0.41723	0.365	D	0.93510	0.6852	10	0.87932	D	0	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	1802	Q9UKX2	MYH2_HUMAN	H	1802	ENSP00000245503:R1802H;ENSP00000380367:R1802H	ENSP00000245503:R1802H	R	-	2	0	0	MYH2	10367605	10367605	1.000000	0.71417	0.828000	0.32881	0.757000	0.42996	7.651000	0.83577	2.861000	0.98227	0.655000	0.94253	CGT		0.572	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3		143.841722	-15	-15	90	90	NM_017534		46	144.015953	144.015953	55	0.455446	0	0	0	1	0	46	55	0.455446
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		76.997732	-4	-4	77	77	NM_002067		25	77.031867	77.031867	28	0.471698	0	0	0	1	0	25	28	0.471698
RYR1	6261	broad.mit.edu	37	19	38983214	38983214	+	Missense_Mutation	SNP	G	G	A	rs139775280		TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr19:38983214G>A	ENST00000359596.3	+	38	6212	c.6212G>A	c.(6211-6213)cGg>cAg	p.R2071Q	RYR1_ENST00000355481.4_Missense_Mutation_p.R2071Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R2071Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2071	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R2071L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAGAAAGTGCGGCTGGTGAAG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		15132	0.001		0.0	False		,,,				2504	0.0					ENST00000355481.4											1	Substitution - Missense(1)	lung(1)	NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(6211-6213)cGg>cAg	ryanodine receptor 1 (skeletal)	G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	53.0	50.0	51.0		6212,6212	2.4	1.0	19	dbSNP_134	51	0,8600		0,0,4300	no	missense,missense	RYR1	NM_000540.2,NM_001042723.1	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	2071/5039,2071/5034	38983214	1,13005	2203	4300	6503	SO:0001583	missense	6261			muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38983214G>A	J05200	J05200	CCDS33011.1, CCDS42563.1	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17			2014-09-17				ENSG00000196218		ENSG00000196218		"""Ion channels / Ryanodine receptors"""	"""Ion channels / Ryanodine receptors"""	10483	10483	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	"""protein phosphatase 1, regulatory subunit 137"""	180901	180901	"""central core disease of muscle"""	MHS, MHS1, CCO	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	1862346, 16621918	Standard	Standard	NM_000540	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	uc002oit.3	P21817	P21817			ENST00000359596.3:c.6212G>A	19.37:g.38983214G>A	ENSP00000352608:p.Arg2071Gln		RYR1_ENST00000359596.3_Missense_Mutation_p.R2071Q|RYR1_ENST00000360985.3_Missense_Mutation_p.R2071Q	p.R2071Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		38	6343	+	all_cancers(60;7.91e-06)		2071	6 X approximate repeats.	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.6212G>A	CCDS33011.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	14.95	2.687932	0.48097	2.27E-4	0.0	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72282	-0.64;-0.64;-0.64	5.05	2.44	0.29823	5.05	2.44	0.29823	.	0.173200	0.32134	U	0.006527	T	0.56366	0.1980	L	0.48642	1.525	0.09310	N	0.999995	B;D	0.53151	0.009;0.958	B;B	0.38296	0.003;0.27	T	0.51164	-0.8740	10	0.30854	T	0.27	.	9.4058	0.38460	0.2693:0.0:0.7307:0.0	.	2071;2071	P21817-2;P21817	.;RYR1_HUMAN	Q	2071	ENSP00000352608:R2071Q;ENSP00000347667:R2071Q;ENSP00000354254:R2071Q	ENSP00000347667:R2071Q	R	+	2	0	0	RYR1	43675054	43675054	0.637000	0.27216	0.997000	0.53966	0.970000	0.65996	1.180000	0.32005	1.089000	0.41292	0.539000	0.68188	CGG		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		36.597635	-7	-7	24	24			12	37.134735	37.134735	21	0.363636	0	0	0	1	0	12	21	0.363636
BICC1	80114	broad.mit.edu	37	10	60549448	60549448	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr10:60549448A>G	ENST00000373886.3	+	8	806	c.802A>G	c.(802-804)Act>Gct	p.T268A		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	268					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTAGGAAGGAACTGCCATGCT	0.393																																						ENST00000373886.3											0			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(802-804)Act>Gct	bicaudal C homolog 1 (Drosophila)						183.0	175.0	178.0					10																	60549448		2203	4300	6503	SO:0001583	missense	80114			multicellular organismal development		RNA binding	g.chr10:60549448A>G	AK026129	AK026129	CCDS31206.1	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870	ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	"""Sterile alpha motif (SAM) domain containing"""	19351	19351	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614295	614295	"""bicaudal C homolog 1 (Drosophila)"""		"""bicaudal C homolog 1 (Drosophila)"""					Standard	Standard	XM_005270166	XM_005270166		Approved		uc001jki.1	uc001jki.1	Q9H694	Q9H694	OTTHUMG00000018271	OTTHUMG00000018271	ENST00000373886.3:c.802A>G	10.37:g.60549448A>G	ENSP00000362993:p.Thr268Ala			p.T268A	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			8	806	+			268			Missense_Mutation	SNP	ENST00000373886.3	37	c.802A>G	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	A	18.31	3.594980	0.66219	.	.	ENSG00000122870	ENST00000373886	T	0.40756	1.02	5.88	4.76	0.60689	5.88	4.76	0.60689	.	0.042911	0.85682	N	0.000000	T	0.37999	0.1024	L	0.54323	1.7	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.13255	-1.0516	10	0.34782	T	0.22	-12.1964	11.657	0.51324	0.9313:0.0:0.0687:0.0	.	268	Q9H694	BICC1_HUMAN	A	268	ENSP00000362993:T268A	ENSP00000362993:T268A	T	+	1	0	0	BICC1	60219454	60219454	1.000000	0.71417	0.977000	0.42913	0.994000	0.84299	5.306000	0.65756	1.062000	0.40625	0.533000	0.62120	ACT		0.393	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2		224.216939	-66	-66	145	145	NM_025044		67	224.398032	224.398032	78	0.462069	0	0	0	1	0	67	78	0.462069
SGTA	6449	broad.mit.edu	37	19	2759273	2759273	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr19:2759273T>C	ENST00000221566.2	-	9	880	c.719A>G	c.(718-720)aAt>aGt	p.N240S		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	240					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AATCTGGGGATTGTTCATTAG	0.403																																						ENST00000221566.2											0			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(718-720)aAt>aGt	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha						129.0	137.0	134.0					19																	2759273		2203	4300	6503	SO:0001583	missense	6449			interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2759273T>C	AJ223828	AJ223828	CCDS12094.1	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	"""Tetratricopeptide (TTC) repeat domain containing"""	10819	10819	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603419	603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	9740675, 12735788	Standard	Standard	NM_003021	NM_003021		Approved		uc002lwi.1	uc002lwi.1	O43765	O43765			ENST00000221566.2:c.719A>G	19.37:g.2759273T>C	ENSP00000221566:p.Asn240Ser			p.N240S	NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	880	-		Hepatocellular(1079;0.137)	240		D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	c.719A>G	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	T	7.807	0.714844	0.15306	.	.	ENSG00000104969	ENST00000221566	T	0.39406	1.08	4.05	2.99	0.34606	4.05	2.99	0.34606	.	0.097264	0.64402	N	0.000002	T	0.42154	0.1190	M	0.73962	2.25	0.34545	D	0.710736	B	0.10296	0.003	B	0.17979	0.02	T	0.49698	-0.8912	10	0.56958	D	0.05	-23.5309	9.2874	0.37766	0.0:0.0:0.1823:0.8177	.	240	O43765	SGTA_HUMAN	S	240	ENSP00000221566:N240S	ENSP00000221566:N240S	N	-	2	0	0	SGTA	2710273	2710273	0.962000	0.33011	0.247000	0.24249	0.176000	0.22953	1.514000	0.35834	0.406000	0.25560	0.459000	0.35465	AAT		0.403	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2		-38.798252	-34	-34	193	193	NM_003021		5	9.796509	9.796509	190	0.025641	0	0	0	1	0	5	190	0.025641
RAI14	26064	broad.mit.edu	37	5	34823886	34823886	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr5:34823886G>A	ENST00000265109.3	+	15	2226	c.1939G>A	c.(1939-1941)Gag>Aag	p.E647K	RAI14_ENST00000506376.1_Missense_Mutation_p.E639K|RAI14_ENST00000397449.1_Missense_Mutation_p.E640K|RAI14_ENST00000515799.1_Missense_Mutation_p.E650K|RAI14_ENST00000428746.2_Missense_Mutation_p.E647K|RAI14_ENST00000503673.1_Missense_Mutation_p.E647K|RAI14_ENST00000512629.1_Missense_Mutation_p.E618K	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	647						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACAGGTGAGCGAGCTGTCACA	0.443																																						ENST00000265109.3											0			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1939-1941)Gag>Aag	retinoic acid induced 14						77.0	81.0	80.0					5																	34823886		2203	4300	6503	SO:0001583	missense	26064				cell cortex|cytoskeleton	protein binding	g.chr5:34823886G>A	AB037755	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			2013-01-10			ENSG00000039560	ENSG00000039560	ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	"""Ankyrin repeat domain containing"""	14873	14873	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	"""novel retinal pigment epithelial"""	606586	606586						11042181	11042181	Standard	Standard	NM_015577	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	uc011coj.2	Q9P0K7	Q9P0K7	OTTHUMG00000162019	OTTHUMG00000162019	ENST00000265109.3:c.1939G>A	5.37:g.34823886G>A	ENSP00000265109:p.Glu647Lys		RAI14_ENST00000506376.1_Missense_Mutation_p.E639K|RAI14_ENST00000512629.1_Missense_Mutation_p.E618K|RAI14_ENST00000503673.1_Missense_Mutation_p.E647K|RAI14_ENST00000397449.1_Missense_Mutation_p.E640K|RAI14_ENST00000428746.2_Missense_Mutation_p.E647K|RAI14_ENST00000515799.1_Missense_Mutation_p.E650K	p.E647K	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			15	2226	+	all_lung(31;0.000191)		647		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1939G>A	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989851	0.93106	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.54279	0.75;0.6;0.75;0.75;0.58;0.63;0.62	5.68	5.68	0.88126	5.68	5.68	0.88126	.	.	.	.	.	T	0.61874	0.2382	L	0.34521	1.04	0.80722	D	1	D;D;D;D	0.76494	0.995;0.997;0.999;0.997	P;P;P;P	0.60173	0.749;0.678;0.87;0.546	T	0.62158	-0.6913	9	0.54805	T	0.06	-26.0717	19.7964	0.96487	0.0:0.0:1.0:0.0	.	639;618;650;647	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	K	647;618;647;647;650;639;640	ENSP00000265109:E647K;ENSP00000422377:E618K;ENSP00000388725:E647K;ENSP00000422942:E647K;ENSP00000427123:E650K;ENSP00000423854:E639K;ENSP00000380591:E640K	ENSP00000265109:E647K	E	+	1	0	0	RAI14	34859643	34859643	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	5.748000	0.68697	2.683000	0.91414	0.555000	0.69702	GAG		0.443	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1		57.922589	-9	-9	42	42	NM_015577		19	58.00506	58.005060	23	0.452381	0	0	0	1	0	19	23	0.452381
GLI2	2736	broad.mit.edu	37	2	121748132	121748132	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr2:121748132C>T	ENST00000452319.1	+	14	4702	c.4642C>T	c.(4642-4644)Cga>Tga	p.R1548*	GLI2_ENST00000361492.4_Nonsense_Mutation_p.R1548*|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CACCACCCCCCGAAACTCCTT	0.617																																						ENST00000452319.1											0			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4642-4644)Cga>Tga	GLI family zinc finger 2						111.0	128.0	122.0					2																	121748132		2203	4300	6503	SO:0001587	stop_gained	2736			axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121748132C>T			CCDS33283.1	CCDS33283.1	2q14	2013-01-25	2009-03-05		2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047	ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	"""Zinc fingers, C2H2-type"""	4318	4318	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""		"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	2850480, 9557682	Standard	Standard	NM_005270	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	uc010flp.3	P10070	P10070	OTTHUMG00000153741	OTTHUMG00000153741	ENST00000452319.1:c.4642C>T	2.37:g.121748132C>T	ENSP00000390436:p.Arg1548*		GLI2_ENST00000361492.4_Nonsense_Mutation_p.R1548*|GLI2_ENST00000314490.11_Intron	p.R1548*			P10070	GLI2_HUMAN			14	4702	+	Renal(3;0.0496)	Prostate(154;0.0623)	1548			Nonsense_Mutation	SNP	ENST00000452319.1	37	c.4642C>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	C	40	8.520170	0.98848	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	.	.	.	4.98	2.01	0.26516	4.98	2.01	0.26516	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6438	0.62267	0.5689:0.4311:0.0:0.0	.	.	.	.	X	1548	.	ENSP00000354586:R1548X	R	+	1	2	2	GLI2	121464602	121464602	0.914000	0.31030	0.899000	0.35326	0.844000	0.47949	1.864000	0.39469	0.207000	0.20607	-0.410000	0.06199	CGA		0.617	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3		172.550726	-76	-76	183	183	NM_005270		57	173.679376	173.679376	84	0.404255	0	0	0	1	0	57	84	0.404255
MUC5AC	4586	broad.mit.edu	37	11	1162271	1162271	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr11:1162271G>A	ENST00000356191.2	+	20	1771	c.1771G>A	c.(1771-1773)Gcg>Acg	p.A591T				P98088	MUC5A_HUMAN	mucin 5AC, oligomeric mucus/gel-forming	594	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|extracellular fibril organization (GO:0043206)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|fibril (GO:0043205)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGCCACCGCTGCGGCCTTCTT	0.622																																						ENST00000356191.2											0			NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203						c.(1771-1773)Gcg>Acg	mucin 5AC, oligomeric mucus/gel-forming						28.0	28.0	28.0					11																	1162271		867	1985	2852	SO:0001583	missense	4586						g.chr11:1162271G>A	AJ001402, AJ298317	AJ001402, AJ298317			11p15.5	2007-04-23	2006-03-14		2007-04-23	2006-03-14		ENSG00000215182	ENSG00000215182	ENSG00000215182	ENSG00000215182		"""Mucins"""	"""Mucins"""	7515	7515	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			158373	158373	"""mucin 5, subtypes A and C, tracheobronchial/gastric"""		"""mucin 5, subtypes A and C, tracheobronchial/gastric"""			7826332, 9588204	7826332, 9588204	Standard	Standard	XM_006709945	XM_006709945		Approved	MUC5	uc001lsz.3	uc001lsz.3	P98088	P98088	OTTHUMG00000154270	OTTHUMG00000154270	ENST00000356191.2:c.1771G>A	11.37:g.1162271G>A	ENSP00000348519:p.Ala591Thr			p.A591T						BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)	20	1771	+		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)			O60460|O76065|Q13792|Q14425|Q658Q1|Q7M4S5|Q8N4M9|Q8WWQ3|Q8WWQ4|Q8WWQ5	Missense_Mutation	SNP	ENST00000356191.2	37	c.1771G>A		.	.	.	.	.	.	.	.	.	.	g	10.30	1.311558	0.23821	.	.	ENSG00000215182	ENST00000534821;ENST00000356191	T;T	0.18502	2.21;2.24	2.86	2.86	0.33363	2.86	2.86	0.33363	.	.	.	.	.	T	0.17365	0.0417	L	0.55017	1.72	.	.	.	P	0.43094	0.799	B	0.40782	0.34	T	0.19582	-1.0301	8	0.54805	T	0.06	.	8.3181	0.32113	0.1131:0.0:0.8869:0.0	.	594	A7Y9J9	.	T	594;591	ENSP00000435591:A594T;ENSP00000348519:A591T	ENSP00000348519:A591T	A	+	1	0	0	MUC5AC	1152271	1152271	0.012000	0.17670	0.063000	0.19743	0.006000	0.05464	1.218000	0.32467	1.618000	0.50286	0.289000	0.19496	GCG		0.622	MUC5AC-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			41.248607	-2	-2	23	23	XM_001130382		14	41.248607	41.248607	14	0.500000	0	0	0	1	0	14	14	0.5
ZNF780A	284323	broad.mit.edu	37	19	40581890	40581890	+	Silent	SNP	A	A	G			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr19:40581890A>G	ENST00000595687.2	-	6	668	c.459T>C	c.(457-459)ccT>ccC	p.P153P	ZNF780A_ENST00000594395.1_Silent_p.P154P|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Silent_p.P154P|ZNF780A_ENST00000450241.2_Silent_p.P119P|ZNF780A_ENST00000340963.5_Silent_p.P153P|ZNF780A_ENST00000414720.2_Intron	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	153					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(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAGAAGCATGAGGAGTATGAG	0.353																																						ENST00000450241.2											0			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(355-357)ccT>ccC	zinc finger protein 780A						190.0	163.0	172.0					19																	40581890		2203	4300	6503	SO:0001819	synonymous_variant	284323			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581890A>G	AK091274	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782	ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	27603	27603	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_001142577	NM_001142577		Approved	ZNF780	uc010xvh.2	uc010xvh.2	O75290	O75290	OTTHUMG00000155119	OTTHUMG00000155119	ENST00000595687.2:c.459T>C	19.37:g.40581890A>G			ZNF780A_ENST00000455521.1_Silent_p.P154P|ZNF780A_ENST00000594395.1_Silent_p.P154P|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Silent_p.P153P|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.P153P	p.P119P			O75290	Z780A_HUMAN			6	668	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		153		E9PB48|Q6ZN87	Silent	SNP	ENST00000595687.2	37	c.357T>C	CCDS33026.2																																																																																									0.353	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1		-4.520298	-3	-3	79	79	NM_001010880		3	6.427574	6.427574	50	0.056604	0	0	0	1	0	3	50	0.056604
GNB3	2784	broad.mit.edu	37	12	6953033	6953033	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr12:6953033A>G	ENST00000229264.3	+	9	995	c.590A>G	c.(589-591)aAt>aGt	p.N197S	GNB3_ENST00000435982.2_Missense_Mutation_p.N196S|CDCA3_ENST00000604599.1_5'Flank	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	197					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CCTGACTTCAATCTCTTCATT	0.562																																						ENST00000229264.3											0			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						c.(589-591)aAt>aGt	guanine nucleotide binding protein (G protein), beta polypeptide 3						134.0	116.0	122.0					12																	6953033		2203	4300	6503	SO:0001583	missense	2784			cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr12:6953033A>G			CCDS8564.1, CCDS73427.1	CCDS8564.1, CCDS73427.1	12p13	2013-01-10			2013-01-10			ENSG00000111664	ENSG00000111664	ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	"""WD repeat domain containing"""	4400	4400	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139130	139130						11770079, 16600389	11770079, 16600389	Standard	Standard	XM_005253680	XM_005253680		Approved		uc001qrd.3	uc001qrd.3	P16520	P16520	OTTHUMG00000168517	OTTHUMG00000168517	ENST00000229264.3:c.590A>G	12.37:g.6953033A>G	ENSP00000229264:p.Asn197Ser		GNB3_ENST00000435982.2_Missense_Mutation_p.N196S	p.N197S	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN			9	995	+			197		Q96B71|Q9BQC0	Missense_Mutation	SNP	ENST00000229264.3	37	c.590A>G	CCDS8564.1	.	.	.	.	.	.	.	.	.	.	A	8.347	0.830069	0.16749	.	.	ENSG00000111664	ENST00000229264;ENST00000541257;ENST00000435982	T;T;T	0.60171	0.21;0.21;0.21	5.46	1.79	0.24919	5.46	1.79	0.24919	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.273432	0.46758	D	0.000278	T	0.34513	0.0900	N	0.11560	0.145	0.30405	N	0.779626	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.008	T	0.20306	-1.0279	10	0.39692	T	0.17	-11.6507	9.4239	0.38567	0.7957:0.0:0.2043:0.0	.	196;197	E9PCP0;P16520	.;GBB3_HUMAN	S	197;196;196	ENSP00000229264:N197S;ENSP00000442002:N196S;ENSP00000414734:N196S	ENSP00000229264:N197S	N	+	2	0	0	GNB3	6823294	6823294	1.000000	0.71417	0.993000	0.49108	0.002000	0.02628	3.897000	0.56273	0.062000	0.16340	-0.379000	0.06801	AAT		0.562	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400006.1		75.056169	-12	-12	58	58	NM_002075		25	75.357224	75.357224	34	0.423729	0	0	0	1	0	25	34	0.423729
GTSE1	51512	broad.mit.edu	37	22	46704545	46704545	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr22:46704545A>C	ENST00000454366.1	+	4	679	c.467A>C	c.(466-468)aAa>aCa	p.K156T		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	137					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GAAATGAAGAAAAGCCCCACG	0.532																																					GBM(153;542 1915 12487 29016 50495)	ENST00000454366.1											0			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27						c.(466-468)aAa>aCa	G-2 and S-phase expressed 1						58.0	72.0	67.0					22																	46704545		2200	4291	6491	SO:0001583	missense	51512			DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704545A>C	AF223408	AF223408	CCDS14074.2	CCDS14074.2	22q13.2-q13.3	2008-06-10			2008-06-10			ENSG00000075218	ENSG00000075218	ENSG00000075218	ENSG00000075218				13698	13698	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607477	607477						10974554, 10984615, 12750368	10974554, 10984615, 12750368	Standard	Standard	NM_016426	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	uc011aqy.2	Q9NYZ3	Q9NYZ3	OTTHUMG00000150486	OTTHUMG00000150486	ENST00000454366.1:c.467A>C	22.37:g.46704545A>C	ENSP00000415430:p.Lys156Thr			p.K156T	NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	679	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	137		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.467A>C	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509736	0.64522	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.10099	2.91	5.45	2.91	0.33838	5.45	2.91	0.33838	.	0.207947	0.50627	D	0.000113	T	0.27524	0.0676	M	0.68952	2.095	0.31633	N	0.648815	D	0.89917	1.0	D	0.73708	0.981	T	0.21314	-1.0249	10	0.87932	D	0	-24.8417	10.6827	0.45823	0.8429:0.0:0.1571:0.0	.	137	Q9NYZ3	GTSE1_HUMAN	T	156;116	ENSP00000415430:K156T	ENSP00000354634:K116T	K	+	2	0	0	GTSE1	45083209	45083209	0.274000	0.24191	0.857000	0.33713	0.915000	0.54546	0.757000	0.26433	0.855000	0.35359	0.533000	0.62120	AAA		0.532	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2		101.294378	-7	-7	94	94	NM_016426		32	101.444139	101.444139	39	0.450704	0	0	0	1	0	32	39	0.450704
ATF2	1386	broad.mit.edu	37	2	175945425	175945425	+	Silent	SNP	G	G	A			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr2:175945425G>A	ENST00000264110.2	-	13	1552	c.1254C>T	c.(1252-1254)tgC>tgT	p.C418C	ATF2_ENST00000409635.1_Silent_p.C360C|ATF2_ENST00000409499.1_Silent_p.C57C|ATF2_ENST00000392543.2_Silent_p.C39C|ATF2_ENST00000409437.1_Silent_p.C302C|ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000426833.3_Silent_p.C400C|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000345739.5_Silent_p.C360C|ATF2_ENST00000392544.1_Silent_p.C418C	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	418					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	CGGTTACAGGGCAATCTTTAT	0.443																																					Pancreas(17;87 705 4534 15538 30988)	ENST00000264110.2											0			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17						c.(1252-1254)tgC>tgT	activating transcription factor 2						177.0	173.0	174.0					2																	175945425		2203	4300	6503	SO:0001819	synonymous_variant	1386			innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr2:175945425G>A	X15875	X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			2013-01-10			ENSG00000115966	ENSG00000115966	ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	"""basic leucine zipper proteins"""	784	784	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			123811	123811	"""cAMP responsive element binding protein 2"""	CREB2	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	1833307, 1838349	Standard	Standard	NM_001880	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	uc002ujl.4	P15336	P15336	OTTHUMG00000132424	OTTHUMG00000132424	ENST00000264110.2:c.1254C>T	2.37:g.175945425G>A			ATF2_ENST00000409437.1_Silent_p.C302C|ATF2_ENST00000392543.2_Silent_p.C39C|ATF2_ENST00000426833.3_Silent_p.C400C|ATF2_ENST00000409499.1_Silent_p.C57C|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000345739.5_Silent_p.C360C|ATF2_ENST00000538946.1_3'UTR|ATF2_ENST00000392544.1_Silent_p.C418C|ATF2_ENST00000409635.1_Silent_p.C360C	p.C418C	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.125)		13	1552	-			418		A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Silent	SNP	ENST00000264110.2	37	c.1254C>T	CCDS2262.1																																																																																									0.443	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1		-25.623589	-47	-47	143	143	NM_001880		4	7.19372	7.193720	131	0.029630	0	0	0	1	0	4	131	0.02963
SZT2	23334	broad.mit.edu	37	1	43912793	43912793	+	Silent	SNP	C	C	T			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr1:43912793C>T	ENST00000562955.1	+	65	9069	c.9069C>T	c.(9067-9069)gcC>gcT	p.A3023A	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Silent_p.A2181A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3080					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTTCCTGGCCCACCACCCTG	0.592																																						ENST00000562955.1											0			NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(9067-9069)gcC>gcT	seizure threshold 2 homolog (mouse)						127.0	89.0	102.0					1																	43912793		2203	4300	6503	SO:0001819	synonymous_variant	23334				peroxisome		g.chr1:43912793C>T	AB007936	AB007936	CCDS30694.1, CCDS30694.2	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198	ENSG00000198198	ENSG00000198198				29040	29040	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	9455484	Standard	Standard	NM_015284	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	uc001cjk.3	Q5T011	Q5T011	OTTHUMG00000007423	OTTHUMG00000007423	ENST00000562955.1:c.9069C>T	1.37:g.43912793C>T			SZT2_ENST00000372442.1_Silent_p.A2181A	p.A3023A	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			65	9069	+			3080		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.9069C>T	CCDS30694.2																																																																																									0.592	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3		41.975046	-20	-20	15	15	NM_015284		13	41.975046	41.975046	13	0.500000	0	0	0	1	0	13	13	0.5
KNDC1	85442	broad.mit.edu	37	10	135020364	135020364	+	Silent	SNP	C	C	T			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr10:135020364C>T	ENST00000304613.3	+	19	3507	c.3486C>T	c.(3484-3486)tcC>tcT	p.S1162S	KNDC1_ENST00000368572.2_Silent_p.S1164S|KNDC1_ENST00000368571.2_Silent_p.S1097S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1162					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCACAGGTTCCGACGTCAAGA	0.567																																						ENST00000304613.3											0			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(3484-3486)tcC>tcT	kinase non-catalytic C-lobe domain (KIND) containing 1						101.0	109.0	106.0					10																	135020364		2203	4300	6503	SO:0001819	synonymous_variant	85442			regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135020364C>T	AK074179	AK074179	CCDS7674.1	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798	ENSG00000171798	ENSG00000171798				29374	29374	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""RasGEF domain family, member 2"""	RASGEF2, C10orf23	"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	11214970	Standard	Standard	NM_152643	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	uc001llz.1	Q76NI1	Q76NI1	OTTHUMG00000019303	OTTHUMG00000019303	ENST00000304613.3:c.3486C>T	10.37:g.135020364C>T			KNDC1_ENST00000368572.2_Silent_p.S1164S|KNDC1_ENST00000368571.2_Silent_p.S1097S	p.S1162S			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	19	3507	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	1162		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	ENST00000304613.3	37	c.3486C>T	CCDS7674.1																																																																																									0.567	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3		-1.729267	-43	-43	87	87	NM_152643		7	16.259641	16.259641	89	0.072917	0	0	0	1	0	7	89	0.072917
RRNAD1	51093	broad.mit.edu	37	1	156704256	156704257	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-VD-AA8R-01A-11D-A39W-08	TCGA-VD-AA8R-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14b7d726-410a-4847-83d0-ba01ffc3336c	6b99c1ba-83d1-4636-bb8d-b1dccaca6afe	g.chr1:156704256_156704257delCC	ENST00000368216.4	+	6	1722_1723	c.1092_1093delCC	c.(1090-1095)atccccfs	p.P365fs	MRPL24_ENST00000478899.1_5'Flank|RRNAD1_ENST00000368218.4_Intron|RRNAD1_ENST00000476229.1_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	365						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TGCAGGGTATCCCCAGGGTCCA	0.599																																						ENST00000368216.4											0			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(1090-1095)atccccfs	ribosomal RNA adenine dimethylase domain containing 1																																			SO:0001589	frameshift_variant	51093				integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156704256_156704257delCC	BC011382	BC011382	CCDS1154.1, CCDS44246.1	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303	ENSG00000143303	ENSG00000143303				24273	24273	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""chromosome 1 open reading frame 66"""	C1orf66	"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	10810093, 310876	Standard	Standard	NM_015997	NM_015997		Approved	CGI-41	uc001fpu.3	uc001fpu.3	Q96FB5	Q96FB5	OTTHUMG00000041302	OTTHUMG00000041302	ENST00000368216.4:c.1092_1093delCC	1.37:g.156704258_156704259delCC	ENSP00000357199:p.Pro365fs		RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Intron	p.P365fs	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			6	1722_1723	+			365		D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Frame_Shift_Del	DEL	ENST00000368216.4	37	c.1092_1093delCC	CCDS1154.1																																																																																									0.599	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	.	.	4	4	7	7	NM_015997		2			4	0.33						2	4	0.33
