#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RP11-556N21.1	0	broad.mit.edu	37	13	25144710	25144710	+	RNA	SNP	A	A	G	rs71218558|rs3742170	byFrequency	TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr13:25144710A>G	ENST00000453498.1	+	0	251																											GATGTGTTTAACACAGCCCCT	0.398													a|||	2400	0.479233	0.4871	0.4798	5008	,	,		15632	0.4246		0.3976	False		,,,				2504	0.6084					ENST00000453498.1																			0																																																			0							g.chr13:25144710A>G																													13.37:g.25144710A>G														0	251	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.398	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			5	36	0	0	0	0.001168	0	5	36				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	57	0	0	0	0.000248	0	4	57				
COL6A2	1292	broad.mit.edu	37	21	47538972	47538972	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr21:47538972G>A	ENST00000300527.4	+	14	1312	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	COL6A2_ENST00000397763.1_Missense_Mutation_p.G403E|COL6A2_ENST00000409416.1_Missense_Mutation_p.G403E|COL6A2_ENST00000357838.4_Missense_Mutation_p.G403E|COL6A2_ENST00000310645.5_Missense_Mutation_p.G403E	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	403	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGAGCCCCAGGAAGTCCTGGT	0.677																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1207-1209)gGa>gAa		collagen, type VI, alpha 2							46.0	41.0	43.0					21																	47538972		2200	4298	6498	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47538972G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1208G>A	21.37:g.47538972G>A	ENSP00000300527:p.Gly403Glu					COL6A2_ENST00000397763.1_Missense_Mutation_p.G403E|COL6A2_ENST00000310645.5_Missense_Mutation_p.G403E|COL6A2_ENST00000409416.1_Missense_Mutation_p.G403E|COL6A2_ENST00000357838.4_Missense_Mutation_p.G403E	p.G403E	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	14	1312	+	Breast(49;0.245)		403			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1208G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021834	0.35701	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	H	0.98133	4.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97258	0.9902	10	0.87932	D	0	-7.8436	16.3441	0.83117	0.0:0.0:1.0:0.0	.	403;403;403	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	E	403	ENSP00000300527:G403E;ENSP00000350497:G403E;ENSP00000312529:G403E;ENSP00000387115:G403E;ENSP00000380870:G403E	ENSP00000300527:G403E	G	+	2	0	COL6A2	46363400	1.000000	0.71417	0.160000	0.22671	0.151000	0.21798	7.186000	0.77722	2.083000	0.62718	0.591000	0.81541	GGA		0.677	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			10	17	0	0	0	0.001855	0	10	17				
VIM	7431	broad.mit.edu	37	10	17277352	17277352	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr10:17277352C>T	ENST00000224237.5	+	6	1338	c.1193C>T	c.(1192-1194)gCc>gTc	p.A398V	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.A398V			P08670	VIME_HUMAN	vimentin	398	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTGAGATTGCCACCTACAGG	0.502																																						ENST00000544301.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1192-1194)gCc>gTc		vimentin							111.0	103.0	106.0					10																	17277352		2203	4300	6503	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17277352C>T	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1193C>T	10.37:g.17277352C>T	ENSP00000224237:p.Ala398Val					VIM_ENST00000224237.5_Missense_Mutation_p.A398V	p.A398V	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN			7	1606	+			398			Coil 2.|Rod.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.1193C>T	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743088	0.96873	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.91068	-2.78;-2.78	5.87	5.87	0.94306	Filament (1);Intermediate filament protein, conserved site (1);	0.297463	0.23604	N	0.046412	D	0.97244	0.9099	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.89917	0.988;1.0;1.0;0.988	D;D;D;D	0.97110	0.936;0.997;1.0;0.956	D	0.97812	1.0251	10	0.87932	D	0	.	20.2707	0.98476	0.0:1.0:0.0:0.0	.	398;385;398;398	Q53HU8;F5H288;B0YJC4;P08670	.;.;.;VIME_HUMAN	V	398;398;385	ENSP00000446007:A398V;ENSP00000224237:A398V	ENSP00000224237:A398V	A	+	2	0	VIM	17317358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.811000	0.86092	2.784000	0.95788	0.638000	0.83543	GCC		0.502	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		4	124	0	0	0	0.000602	0	4	124				
PKHD1L1	93035	broad.mit.edu	37	8	110396357	110396357	+	Splice_Site	SNP	G	G	A			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr8:110396357G>A	ENST00000378402.5	+	5	579		c.e5+1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAACTCCAGGTCTGTTATAT	0.279										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e5+1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							134.0	132.0	132.0					8																	110396357		1814	4070	5884	SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110396357G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.475+1G>A	8.37:g.110396357G>A		HNSCC(38;0.096)						NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		5	579	+								Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37		CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554352	0.86231	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.875	0.88822	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKHD1L1	110465533	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.368000	0.66133	2.821000	0.97095	0.650000	0.86243	.		0.279	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	8	171	0	0	0	0.006214	0	8	171				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		34	53	0	0	0	0.003755	0	34	53				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	50	0	0	0	0.000248	0	3	50				
MIR1275	100302123	broad.mit.edu	37	6	33967792	33967792	+	RNA	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr6:33967792C>T	ENST00000408770.1	-	0	36					NR_031681.1				microRNA 1275																		CTTACAGACACAAGACAGCCT	0.522																																						ENST00000408770.1																			0																				72.0	70.0	71.0					6																	33967792		1568	3582	5150			0							g.chr6:33967792C>T			6	2011-09-12		2008-12-18	ENSG00000221697	ENSG00000221697		"""ncRNAs / Micro RNAs"""	35346	non-coding RNA	RNA, micro				MIRN1275			Standard	NR_031681		Approved	hsa-mir-1275	uc021yyr.1				6.37:g.33967792C>T								NR_031681.1						0	36	-									RNA	SNP	ENST00000408770.1	37																																																																																						0.522	MIR1275-201	KNOWN	basic	miRNA	miRNA		NR_031681		24	42	0	0	0	0.005443	0	24	42				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	228	0	0	0	0.000248	0	4	228				
MPDZ	8777	broad.mit.edu	37	9	13217196	13217196	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr9:13217196A>G	ENST00000319217.7	-	9	1431	c.1184T>C	c.(1183-1185)aTt>aCt	p.I395T	MPDZ_ENST00000546205.1_Missense_Mutation_p.I395T|MPDZ_ENST00000541718.1_Missense_Mutation_p.I395T|MPDZ_ENST00000381022.2_Missense_Mutation_p.I395T|MPDZ_ENST00000536827.1_Missense_Mutation_p.I395T|MPDZ_ENST00000381015.4_Missense_Mutation_p.I395T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I395T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	395	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTTATCTCCAATGTAGCCAGC	0.303																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(1183-1185)aTt>aCt		multiple PDZ domain protein							63.0	59.0	60.0					9																	13217196		1800	4053	5853	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13217196A>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1184T>C	9.37:g.13217196A>G	ENSP00000320006:p.Ile395Thr					MPDZ_ENST00000381015.4_Missense_Mutation_p.I395T|MPDZ_ENST00000546205.1_Missense_Mutation_p.I395T|MPDZ_ENST00000381022.2_Missense_Mutation_p.I395T|MPDZ_ENST00000536827.1_Missense_Mutation_p.I395T|MPDZ_ENST00000541718.1_Missense_Mutation_p.I395T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I395T	p.I395T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	9	1431	-			395			PDZ 3.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.1184T>C		.	.	.	.	.	.	.	.	.	.	A	15.02	2.709749	0.48517	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73	6.17	6.17	0.99709	.	0.000000	0.45361	D	0.000375	T	0.24005	0.0581	N	0.12182	0.205	0.80722	D	1	P;P;D	0.53745	0.916;0.897;0.962	P;P;P	0.49799	0.622;0.488;0.488	T	0.03969	-1.0988	10	0.42905	T	0.14	.	16.4957	0.84242	1.0:0.0:0.0:0.0	.	395;395;395	B7ZMI4;O75970-3;O75970-2	.;.;.	T	395	ENSP00000320006:I395T;ENSP00000439807:I395T;ENSP00000370410:I395T;ENSP00000444151:I395T;ENSP00000415208:I395T;ENSP00000370403:I395T;ENSP00000446358:I395T	ENSP00000320006:I395T	I	-	2	0	MPDZ	13207196	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.554000	0.90689	2.371000	0.80710	0.533000	0.62120	ATT		0.303	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		15	17	0	0	0	0.004007	0	15	17				
SLC19A2	10560	broad.mit.edu	37	1	169437896	169437896	+	Silent	SNP	G	G	A			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr1:169437896G>A	ENST00000236137.5	-	4	1445	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	SLC19A2_ENST00000367804.4_Silent_p.L202L	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	403					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	CTATCGTGATGAGTAACATGT	0.368																																						ENST00000236137.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11						c.(1207-1209)ctC>ctT		solute carrier family 19 (thiamine transporter), member 2							141.0	122.0	129.0					1																	169437896		2203	4300	6503	SO:0001819	synonymous_variant	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169437896G>A	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.1209C>T	1.37:g.169437896G>A						SLC19A2_ENST00000367802.3_Silent_p.L365L|SLC19A2_ENST00000367804.3_Silent_p.L202L	p.L403L	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN			4	1445	-	all_hematologic(923;0.208)		403					B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Silent	SNP	ENST00000236137.5	37	c.1209C>T	CCDS1280.1																																																																																				0.368	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		4	84	0	0	0	0.000248	0	4	84				
ZMIZ2	83637	broad.mit.edu	37	7	44805072	44805072	+	Silent	SNP	C	C	G			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr7:44805072C>G	ENST00000309315.4	+	16	2259	c.2136C>G	c.(2134-2136)ctC>ctG	p.L712L	ZMIZ2_ENST00000413916.1_Silent_p.L654L|ZMIZ2_ENST00000441627.1_Silent_p.L712L|ZMIZ2_ENST00000433667.1_Silent_p.L680L|ZMIZ2_ENST00000265346.7_Silent_p.L686L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	712					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCACGTGCTCATGCCCAGCG	0.701																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2134-2136)ctC>ctG		zinc finger, MIZ-type containing 2							21.0	24.0	23.0					7																	44805072		2062	4210	6272	SO:0001819	synonymous_variant	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44805072C>G	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2136C>G	7.37:g.44805072C>G						ZMIZ2_ENST00000433667.1_Silent_p.L680L|ZMIZ2_ENST00000441627.1_Silent_p.L712L|ZMIZ2_ENST00000413916.1_Silent_p.L654L|ZMIZ2_ENST00000265346.7_Silent_p.L686L	p.L712L	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			16	2259	+			712					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	c.2136C>G	CCDS43576.1																																																																																				0.701	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		13	23	0	0	0	0.003163	0	13	23				
ZSCAN20	7579	broad.mit.edu	37	1	33944900	33944900	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr1:33944900C>T	ENST00000361328.3	+	2	164	c.11C>T	c.(10-12)gCc>gTc	p.A4V	ZSCAN20_ENST00000480917.1_3'UTR|ZSCAN20_ENST00000373413.2_Missense_Mutation_p.A4V	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	4					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ATGGCTATGGCCCTGGAATTG	0.512																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(10-12)gCc>gTc		zinc finger and SCAN domain containing 20							70.0	67.0	68.0					1																	33944900		1951	4166	6117	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33944900C>T	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.11C>T	1.37:g.33944900C>T	ENSP00000355053:p.Ala4Val					ZSCAN20_ENST00000373413.2_Missense_Mutation_p.A4V|ZSCAN20_ENST00000480917.1_3'UTR	p.A4V	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			2	164	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	4					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.11C>T	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172853	0.38413	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T;T	0.06933	4.36;3.24	5.36	4.41	0.53225	.	0.132612	0.34507	N	0.003920	T	0.15132	0.0365	M	0.88979	2.995	0.09310	N	1	B;B;B	0.19073	0.033;0.011;0.02	B;B;B	0.19946	0.027;0.011;0.008	T	0.13335	-1.0513	10	0.41790	T	0.15	-7.7603	8.5078	0.33197	0.0:0.8895:0.0:0.1105	.	4;4;4	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	V	4	ENSP00000362512:A4V;ENSP00000355053:A4V	ENSP00000324450:A4V	A	+	2	0	ZSCAN20	33717487	0.002000	0.14202	0.054000	0.19295	0.006000	0.05464	0.470000	0.22084	1.407000	0.46875	0.655000	0.94253	GCC		0.512	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		38	56	0	0	0	0.006230	0	38	56				
PABPC3	5042	broad.mit.edu	37	13	25670442	25670442	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr13:25670442C>T	ENST00000281589.3	+	1	143	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	36	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCCGGCAGGGCCCATCCTCTC	0.627																																						ENST00000281589.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(106-108)Ccc>Tcc		poly(A) binding protein, cytoplasmic 3							79.0	77.0	78.0					13																	25670442		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25670442C>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.106C>T	13.37:g.25670442C>T	ENSP00000281589:p.Pro36Ser						p.P36S	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	143	+		Lung SC(185;0.0225)|Breast(139;0.0602)	36			RRM 1.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.106C>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152239	0.38021	.	.	ENSG00000151846	ENST00000281589	T	0.16897	2.31	0.546	0.546	0.17196	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.38164	U	0.001785	T	0.19765	0.0475	L	0.52011	1.625	0.37799	D	0.927644	P	0.42735	0.788	P	0.49085	0.6	T	0.05971	-1.0853	10	0.46703	T	0.11	.	6.848	0.23998	0.0:0.9999:0.0:1.0E-4	.	36	Q9H361	PABP3_HUMAN	S	36	ENSP00000281589:P36S	ENSP00000281589:P36S	P	+	1	0	PABPC3	24568442	1.000000	0.71417	0.049000	0.19019	0.022000	0.10575	2.562000	0.45914	0.558000	0.29135	0.305000	0.20034	CCC		0.627	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		30	45	0	0	0	0.002445	0	30	45				
HIGD1A	25994	broad.mit.edu	37	3	42845665	42845665	+	Intron	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr3:42845665C>T	ENST00000321331.7	-	1	96				HIGD1A_ENST00000430190.1_Intron|RP11-70C1.3_ENST00000449063.1_RNA|HIGD1A_ENST00000470543.1_Intron|HIGD1A_ENST00000418900.2_Intron|HIGD1A_ENST00000452906.2_Splice_Site_p.E7K	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A						cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|protein complex (GO:0043234)|respiratory chain (GO:0070469)				lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GCAACTCACTCCACAAGCTTC	0.672																																						ENST00000452906.2																			0				lung(1)	1						c.e1+1		HIG1 hypoxia inducible domain family, member 1A							156.0	178.0	171.0					3																	42845665		2167	4266	6433	SO:0001627	intron_variant	25994				response to stress	integral to membrane|protein complex	protein binding	g.chr3:42845665C>T	BC009583	CCDS43073.1, CCDS46806.1	3p22.1	2014-02-12	2009-03-17		ENSG00000181061	ENSG00000181061			29527	protein-coding gene	gene with protein product	"""hypoxia inducible gene 1"""		"""HIG1 domain family, member 1A"""			11042152, 11230166	Standard	NM_001099668		Approved	HIG1, DKFZP564K247	uc010hid.3	Q9Y241	OTTHUMG00000156277	ENST00000321331.7:c.21+262G>A	3.37:g.42845665C>T						HIGD1A_ENST00000418900.2_Intron|HIGD1A_ENST00000430190.1_Intron|HIGD1A_ENST00000470543.1_Intron|HIGD1A_ENST00000321331.7_Intron	p.E7_splice	NM_001099668.1	NP_001093138.1	Q9Y241	HIG1A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	1	260	-			0			HIG1.		Q9UFZ2	Splice_Site	SNP	ENST00000321331.7	37	c.20_splice	CCDS43073.1	.	.	.	.	.	.	.	.	.	.	C	7.629	0.678472	0.14841	.	.	ENSG00000181061	ENST00000452906	T	0.37058	1.22	4.16	1.3	0.21679	.	.	.	.	.	T	0.13798	0.0334	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.32745	-0.9895	8	0.06236	T	0.91	.	4.7409	0.13012	0.0:0.6124:0.1794:0.2082	.	7	Q9Y241-2	.	K	7	ENSP00000398064:E7K	ENSP00000398064:E7K	E	-	1	0	HIGD1A	42820669	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	0.070000	0.14573	0.123000	0.18342	0.563000	0.77884	GAG		0.672	HIGD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343686.1	NM_014056		46	109	0	0	0	0.003610	0	46	109				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	4	0	0	0	0.000248	0	3	4				
ARHGAP18	93663	broad.mit.edu	37	6	129920497	129920497	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr6:129920497G>A	ENST00000368149.2	-	12	1665	c.1577C>T	c.(1576-1578)cCc>cTc	p.P526L	ARHGAP18_ENST00000463225.1_5'Flank	NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		AATAAACTTGGGAATCTATAG	0.294																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(1576-1578)cCc>cTc		Rho GTPase activating protein 18							65.0	63.0	64.0					6																	129920497		2201	4298	6499	SO:0001583	missense	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129920497G>A	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1577C>T	6.37:g.129920497G>A	ENSP00000357131:p.Pro526Leu						p.P526L	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	12	1665	-			526						Missense_Mutation	SNP	ENST00000368149.2	37	c.1577C>T	CCDS34535.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669376	0.88348	.	.	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.80341	0.4605	M	0.83223	2.63	0.80722	D	1	D;D	0.67145	0.995;0.996	P;D	0.69307	0.894;0.963	T	0.81690	-0.0818	8	.	.	.	.	18.8962	0.92424	0.0:0.0:1.0:0.0	.	526;526	A9UK01;Q8N392	.;RHG18_HUMAN	L	481;526	.	.	P	-	2	0	ARHGAP18	129962190	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.980000	0.93460	2.439000	0.82584	0.650000	0.86243	CCC		0.294	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		12	36	0	0	0	0.001368	0	12	36				
C11orf63	79864	broad.mit.edu	37	11	122805462	122805462	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr11:122805462C>T	ENST00000531316.1	+	4	1405	c.1313C>T	c.(1312-1314)aCc>aTc	p.T438I	C11orf63_ENST00000227349.2_Missense_Mutation_p.T438I			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	438					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CTCAAAGAAACCTCCAATACA	0.398																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1312-1314)aCc>aTc		chromosome 11 open reading frame 63							82.0	82.0	82.0					11																	122805462		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122805462C>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1313C>T	11.37:g.122805462C>T	ENSP00000431669:p.Thr438Ile					C11orf63_ENST00000531316.1_Missense_Mutation_p.T438I	p.T438I	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	5	1610	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	438					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.1313C>T	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550936	0.27739	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.24723	1.84;1.84	5.81	1.53	0.23141	.	0.816764	0.11065	N	0.603586	T	0.26629	0.0651	M	0.70595	2.14	0.09310	N	1	B	0.29432	0.244	B	0.27715	0.082	T	0.28744	-1.0034	10	0.87932	D	0	-2.0069	6.5769	0.22571	0.4654:0.4516:0.0:0.083	.	438	Q6NUN7	CK063_HUMAN	I	438	ENSP00000227349:T438I;ENSP00000431669:T438I	ENSP00000227349:T438I	T	+	2	0	C11orf63	122310672	0.000000	0.05858	0.049000	0.19019	0.291000	0.27294	-0.169000	0.09911	0.745000	0.32763	0.650000	0.86243	ACC		0.398	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		30	40	0	0	0	0.003271	0	30	40				
FFAR4	338557	broad.mit.edu	37	10	95347003	95347003	+	Silent	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr10:95347003C>T	ENST00000371483.4	+	4	827	c.771C>T	c.(769-771)ctC>ctT	p.L257L	FFAR4_ENST00000371481.4_Silent_p.L241L|FFAR4_ENST00000604414.1_Intron	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	257					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										GGAAGAGGCTCACGGTAAGCC	0.567																																						ENST00000371483.4																			0											c.(769-771)ctC>ctT		free fatty acid receptor 4							74.0	71.0	72.0					10																	95347003		2203	4300	6503	SO:0001819	synonymous_variant	338557							g.chr10:95347003C>T		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.771C>T	10.37:g.95347003C>T						FFAR4_ENST00000371481.4_Silent_p.L241L|FFAR4_ENST00000604414.1_Intron	p.L257L	NM_181745.3	NP_859529.2					4	827	+								Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Silent	SNP	ENST00000371483.4	37	c.771C>T	CCDS31248.1																																																																																				0.567	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		4	68	0	0	0	0.000248	0	4	68				
CLCA1	1179	broad.mit.edu	37	1	86959123	86959123	+	Silent	SNP	C	C	T			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr1:86959123C>T	ENST00000234701.3	+	11	1872	c.1521C>T	c.(1519-1521)atC>atT	p.I507I	CLCA1_ENST00000394711.1_Silent_p.I507I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	507					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCACAGTGATCGTGGACAGCA	0.493																																						ENST00000234701.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1519-1521)atC>atT		chloride channel accessory 1							169.0	135.0	147.0					1																	86959123		2203	4300	6503	SO:0001819	synonymous_variant	1179				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	g.chr1:86959123C>T		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1521C>T	1.37:g.86959123C>T						CLCA1_ENST00000394711.1_Silent_p.I507I	p.I507I			A8K7I4	CLCA1_HUMAN		all cancers(265;0.0249)|Epithelial(280;0.0476)	11	1872	+		Lung NSC(277;0.239)	507					B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Silent	SNP	ENST00000234701.3	37	c.1521C>T	CCDS709.1																																																																																				0.493	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		8	86	0	0	0	0.003080	0	8	86				
EOMES	8320	broad.mit.edu	37	3	27763406	27763408	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-ET-A25G-01A-11D-A16O-08	TCGA-ET-A25G-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5fe7249-10b3-4a0b-96dc-be4c7d3e5c8c	41324b55-de97-4320-b264-4073c08443e1	g.chr3:27763406_27763408delGCG	ENST00000295743.4	-	1	581_583	c.378_380delCGC	c.(376-381)gccgcg>gcg	p.126_127AA>A	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_In_Frame_Del_p.126_127AA>A|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	126	Ala-rich.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggccgcagccgcggcggcggcgg	0.778																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(376-381)gcg>gc		eomesodermin				85,33,494		40,0,5,13,7,241						-3.4	0.0		dbSNP_126	1	353,77,1382		157,0,39,28,21,661	no	codingComplex	EOMES	NM_005442.2		197,0,44,41,28,902	A1A1,A1A2,A1R,A2A2,A2R,RR		23.7307,19.281,22.6073				438,110,1876				SO:0001651	inframe_deletion	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27763406_27763408delGCG	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.378_380delCGC	3.37:g.27763415_27763417delGCG	ENSP00000295743:p.Ala130del					EOMES_ENST00000537516.1_Intron|EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_In_Frame_Del_p.AA128del	p.AA128del			O95936	EOMES_HUMAN			1	581_583	-			128			Ala-rich.		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Del	DEL	ENST00000295743.4	37	c.378_380delCGC	CCDS2646.1																																																																																				0.778	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		2	4						2	4	---	---	---	---
