#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_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_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
FICD	11153	hgsc.bcm.edu;broad.mit.edu	37	12	108912361	108912361	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr12:108912361G>C	ENST00000552695.1	+	3	721	c.486G>C	c.(484-486)ttG>ttC	p.L162F	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	162					negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CGGACTACTTGTACACCAGAG	0.537																																																0													148.0	114.0	125.0					12																	108912361		2203	4300	6503	SO:0001583	missense	11153			AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.486G>C	12.37:g.108912361G>C	ENSP00000446479:p.Leu162Phe		O75406	Missense_Mutation	SNP	ENST00000552695.1	37	CCDS9116.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614861	0.28712	.	.	ENSG00000198855	ENST00000552695	T	0.77229	-1.08	5.62	-2.26	0.06867	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000001	T	0.63931	0.2553	L	0.50333	1.59	0.80722	D	1	P	0.36249	0.545	B	0.36335	0.222	T	0.50423	-0.8830	10	0.28530	T	0.3	-16.5889	5.9402	0.19189	0.3732:0.2173:0.4095:0.0	.	162	Q9BVA6	FICD_HUMAN	F	162	ENSP00000446479:L162F	ENSP00000446479:L162F	L	+	3	2	FICD	107436491	0.968000	0.33430	0.446000	0.26920	0.576000	0.36127	0.109000	0.15417	-0.301000	0.08882	-0.137000	0.14449	TTG		0.537	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1	NM_007076		5	50	5	50
FHOD1	29109	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	67264254	67264254	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr16:67264254C>T	ENST00000258201.4	-	19	3261	c.3014G>A	c.(3013-3015)cGt>cAt	p.R1005H		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1005	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTTGCGCTCACGGTATGTGGC	0.592																																																0													90.0	84.0	86.0					16																	67264254		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.3014G>A	16.37:g.67264254C>T	ENSP00000258201:p.Arg1005His		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915416	0.92178	.	.	ENSG00000135723	ENST00000258201	T	0.64438	-0.1	5.33	5.33	0.75918	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (2);	0.000000	0.85682	D	0.000000	T	0.81004	0.4733	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.83377	0.0010	10	0.87932	D	0	.	17.7539	0.88444	0.0:1.0:0.0:0.0	.	1005	Q9Y613	FHOD1_HUMAN	H	1005	ENSP00000258201:R1005H	ENSP00000258201:R1005H	R	-	2	0	FHOD1	65821755	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	7.461000	0.80834	2.771000	0.95319	0.561000	0.74099	CGT		0.592	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			12	53	12	53
APOBEC4	403314	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	183617594	183617594	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr1:183617594G>A	ENST00000308641.4	-	2	594	c.323C>T	c.(322-324)gCc>gTc	p.A108V	RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	108					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						ATTGTATATGGCTGAGTCAAG	0.408																																																0													158.0	155.0	156.0					1																	183617594		2203	4300	6503	SO:0001583	missense	403314			BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.323C>T	1.37:g.183617594G>A	ENSP00000310622:p.Ala108Val		Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	G	0.966	-0.701619	0.03255	.	.	ENSG00000173627	ENST00000308641	T	0.63913	-0.07	5.28	2.61	0.31194	APOBEC-like, N-terminal (1);	0.555606	0.15624	N	0.252745	T	0.30759	0.0775	N	0.04880	-0.145	0.09310	N	1	B	0.17465	0.022	B	0.17433	0.018	T	0.30238	-0.9985	10	0.02654	T	1	-18.2894	5.028	0.14395	0.6119:0.0:0.3881:0.0	.	108	Q8WW27	ABEC4_HUMAN	V	108	ENSP00000310622:A108V	ENSP00000310622:A108V	A	-	2	0	APOBEC4	181884217	0.011000	0.17503	0.007000	0.13788	0.321000	0.28281	2.018000	0.40991	0.887000	0.36136	0.655000	0.94253	GCC		0.408	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		8	53	8	53
ANKRD23	200539	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	97506180	97506180	+	Silent	SNP	T	T	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:97506180T>A	ENST00000318357.4	-	5	539	c.498A>T	c.(496-498)gcA>gcT	p.A166A	ANKRD23_ENST00000331001.2_Silent_p.A124A|ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000418232.1_Silent_p.A166A	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	166					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						CTGTGGCACCTGCCACCAGCA	0.622																																																0													36.0	33.0	34.0					2																	97506180		2203	4300	6503	SO:0001819	synonymous_variant	200539				CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.498A>T	2.37:g.97506180T>A			Q711K7|Q8NAJ7	Silent	SNP	ENST00000318357.4	37	CCDS2027.1																																																																																				0.622	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		6	23	6	23
HDLBP	3069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	242176036	242176036	+	Silent	SNP	A	A	C			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:242176036A>C	ENST00000391975.1	-	21	3125	c.2898T>G	c.(2896-2898)gcT>gcG	p.A966A	HDLBP_ENST00000427183.2_Silent_p.A933A|HDLBP_ENST00000310931.4_Silent_p.A966A|HDLBP_ENST00000391976.2_Silent_p.A966A	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	966	KH 11. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATACCTCCAGAGCTTCCTTGG	0.612																																																0													131.0	122.0	125.0					2																	242176036		2203	4300	6503	SO:0001819	synonymous_variant	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2898T>G	2.37:g.242176036A>C			B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Silent	SNP	ENST00000391975.1	37	CCDS2547.1	.	.	.	.	.	.	.	.	.	.	A	9.309	1.055190	0.19907	.	.	ENSG00000115677	ENST00000373292	.	.	.	5.53	-1.5	0.08691	.	.	.	.	.	T	0.39809	0.1092	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26815	-1.0092	4	.	.	.	-39.1124	1.646	0.02762	0.428:0.1021:0.2636:0.2063	.	.	.	.	A	775	.	.	S	-	1	0	HDLBP	241824709	0.001000	0.12720	0.916000	0.36221	0.811000	0.45836	-1.639000	0.02011	-0.176000	0.10707	-0.146000	0.13790	TCT		0.612	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		20	96	20	96
HSPA4L	22824	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	128753891	128753891	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr4:128753891A>C	ENST00000296464.4	+	19	2793	c.2382A>C	c.(2380-2382)gaA>gaC	p.E794D	HSPA4L_ENST00000505726.1_Missense_Mutation_p.E768D|HSPA4L_ENST00000439123.2_Missense_Mutation_p.E825D|HSPA4L_ENST00000508776.1_Missense_Mutation_p.E794D	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	794					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CAAAAGCAGAAGTTCCTGAAG	0.368																																																0													122.0	118.0	120.0					4																	128753891		2203	4300	6503	SO:0001583	missense	22824			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.2382A>C	4.37:g.128753891A>C	ENSP00000296464:p.Glu794Asp		A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359776	0.24598	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000505726	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	4.85	-0.876	0.10624	.	0.051924	0.85682	D	0.000000	T	0.19765	0.0475	L	0.48986	1.54	0.40979	D	0.984767	B;D	0.64830	0.131;0.994	B;D	0.70716	0.082;0.97	T	0.19451	-1.0305	10	0.36615	T	0.2	.	1.8994	0.03264	0.4564:0.1225:0.285:0.1361	.	768;794	E9PDE8;O95757	.;HS74L_HUMAN	D	794;825;794;768	ENSP00000422482:E794D;ENSP00000393926:E825D;ENSP00000296464:E794D;ENSP00000425645:E768D	ENSP00000296464:E794D	E	+	3	2	HSPA4L	128973341	0.993000	0.37304	0.986000	0.45419	0.814000	0.46013	0.761000	0.26489	-0.090000	0.12462	-0.321000	0.08615	GAA		0.368	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		8	34	8	34
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	152730807	152730807	+	Missense_Mutation	SNP	C	C	G	rs374482089		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr6:152730807C>G	ENST00000367255.5	-	43	6869	c.6268G>C	c.(6268-6270)Gaa>Caa	p.E2090Q	SYNE1_ENST00000265368.4_Missense_Mutation_p.E2090Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2097Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E2097Q|RNA5SP223_ENST00000365174.1_RNA|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2127Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2090					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTGATATTCTCTCATTAAG	0.368										HNSCC(10;0.0054)																																						0								C	GLN/GLU,GLN/GLU	0,4406		0,0,2203	98.0	96.0	96.0		6268,6289	5.9	1.0	6		96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SYNE1	NM_182961.3,NM_033071.3	29,29	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign,benign	2090/8798,2097/8750	152730807	1,13005	2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.6268G>C	6.37:g.152730807C>G	ENSP00000356224:p.Glu2090Gln		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658164	0.47467	0.0	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.92	5.92	0.95590	.	0.192526	0.36134	N	0.002765	T	0.18841	0.0452	L	0.59436	1.845	0.80722	D	1	P;B;B;B	0.38250	0.624;0.011;0.023;0.019	B;B;B;B	0.39706	0.307;0.005;0.008;0.011	T	0.02244	-1.1189	10	0.12430	T	0.62	.	14.4744	0.67537	0.0:0.9305:0.0:0.0695	.	2073;2090;2090;2097	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	Q	2090;2097;2090;2097;2127	ENSP00000356224:E2090Q;ENSP00000396024:E2097Q;ENSP00000265368:E2090Q;ENSP00000390975:E2097Q;ENSP00000341887:E2127Q	ENSP00000265368:E2090Q	E	-	1	0	SYNE1	152772500	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.922000	0.63404	2.822000	0.97130	0.650000	0.86243	GAA		0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	26	5	26
HTRA4	203100	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	38839229	38839229	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr8:38839229A>C	ENST00000302495.4	+	6	1157	c.1057A>C	c.(1057-1059)Att>Ctt	p.I353L		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	353	Serine protease.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTCCTTTGCAATTCCTTCAGA	0.428																																																0													195.0	159.0	171.0					8																	38839229		2203	4300	6503	SO:0001583	missense	203100			AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.1057A>C	8.37:g.38839229A>C	ENSP00000305919:p.Ile353Leu		Q542Z4|Q6PF13	Missense_Mutation	SNP	ENST00000302495.4	37	CCDS6110.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.397209	0.42512	.	.	ENSG00000169495	ENST00000302495	D	0.89552	-2.53	5.3	4.14	0.48551	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.64402	D	0.000001	D	0.86772	0.6013	L	0.58510	1.815	0.51233	D	0.999916	P	0.39157	0.662	B	0.39971	0.315	D	0.85578	0.1238	10	0.87932	D	0	-23.9038	10.3303	0.43818	0.9209:0.0:0.0791:0.0	.	353	P83105	HTRA4_HUMAN	L	353	ENSP00000305919:I353L	ENSP00000305919:I353L	I	+	1	0	HTRA4	38958386	1.000000	0.71417	0.599000	0.28851	0.186000	0.23388	5.897000	0.69831	0.854000	0.35336	-0.411000	0.06167	ATT		0.428	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377077.1	NM_153692		9	47	9	47
PHKA2	5256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	18924631	18924631	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:18924631G>A	ENST00000379942.4	-	25	3453	c.2788C>T	c.(2788-2790)Cgg>Tgg	p.R930W		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	930					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTCAGGCTCCGTGCCAGCTCC	0.632													G|||	1	0.000264901	0.0	0.0	3775	,	,		11192	0.0		0.0	False		,,,				2504	0.001															0													75.0	65.0	68.0					X																	18924631		2203	4300	6503	SO:0001583	missense	5256				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2788C>T	X.37:g.18924631G>A	ENSP00000369274:p.Arg930Trp		A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605941	0.46527	.	.	ENSG00000044446	ENST00000379942	D	0.91686	-2.89	5.26	2.17	0.27698	.	0.048891	0.85682	D	0.000000	D	0.95837	0.8645	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.95330	0.8429	10	0.87932	D	0	-14.6446	15.3079	0.74008	0.0:0.0:0.5933:0.4067	.	930	P46019	KPB2_HUMAN	W	930	ENSP00000369274:R930W	ENSP00000369274:R930W	R	-	1	2	PHKA2	18834552	0.998000	0.40836	0.184000	0.23157	0.255000	0.26057	2.753000	0.47524	0.041000	0.15688	0.600000	0.82982	CGG		0.632	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		23	56	23	56
SARDH	1757	broad.mit.edu;ucsc.edu	37	9	136578200	136578200	+	Silent	SNP	C	C	T			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr9:136578200C>T	ENST00000371872.4	-	9	1454	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	SARDH_ENST00000422262.2_Silent_p.E231E|SARDH_ENST00000439388.1_Silent_p.E399E	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	399					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ACCCTCGGAGCTCAGGTGCCT	0.612																																																0													44.0	45.0	45.0					9																	136578200		2203	4300	6503	SO:0001819	synonymous_variant	1757				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1197G>A	9.37:g.136578200C>T			B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	ENST00000371872.4	37	CCDS6978.1																																																																																				0.612	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054931.1			3	19	3	19
IDH1	3417	broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			5	26	5	26
CIC	23152	broad.mit.edu	37	19	42791872	42791872	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr19:42791872C>T	ENST00000575354.2	+	5	798	c.758C>T	c.(757-759)gCc>gTc	p.A253V	CIC_ENST00000572681.2_Missense_Mutation_p.A1162V|CIC_ENST00000160740.3_Missense_Mutation_p.A253V	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	253					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACGACCTGGCCTTCCAGGTA	0.622			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0													73.0	65.0	68.0					19																	42791872		2203	4300	6503	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.758C>T	19.37:g.42791872C>T	ENSP00000458663:p.Ala253Val		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547466	0.65311	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.87277	0.6137	H	0.97158	3.95	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.91420	0.5158	8	0.87932	D	0	-16.4772	14.5138	0.67807	0.0:1.0:0.0:0.0	.	253	Q96RK0	CIC_HUMAN	V	253	.	ENSP00000160740:A253V	A	+	2	0	CIC	47483712	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.161000	0.77505	2.284000	0.76573	0.555000	0.69702	GCC		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			6	32	6	32
