#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
CEP350	9857	broad.mit.edu	37	1	180022212	180022212	+	Missense_Mutation	SNP	C	C	A			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr1:180022212C>A	ENST00000367607.3	+	23	5318	c.4900C>A	c.(4900-4902)Cgc>Agc	p.R1634S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1634					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAGAGTCACCGCAGATTTAA	0.378																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(4900-4902)Cgc>Agc		centrosomal protein 350kDa							81.0	81.0	81.0					1																	180022212		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180022212C>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4900C>A	1.37:g.180022212C>A	ENSP00000356579:p.Arg1634Ser						p.R1634S	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			23	5318	+			1634					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.4900C>A	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.347427|5.347427	0.95807|0.95807	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000418229|ENST00000367607	.|T	.|0.66815	.|-0.23	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.282846	.|0.25341	.|N	.|0.031362	T|T	0.73705|0.73705	0.3621|0.3621	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.998	T|T	0.70554|0.70554	-0.4840|-0.4840	5|9	.|.	.|.	.|.	.|.	19.6253|19.6253	0.95676|0.95676	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1634;1634	.|E7EU22;Q5VT06	.|.;CE350_HUMAN	Q|S	273|1634	.|ENSP00000356579:R1634S	.|.	P|R	+|+	2|1	0|0	CEP350|CEP350	178288835|178288835	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.687000|5.687000	0.68219|0.68219	2.794000|2.794000	0.96219|0.96219	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		3	15	1	0	0.115264	1	0.115264	3	15				
PWP2	5822	broad.mit.edu	37	21	45542224	45542224	+	Silent	SNP	C	C	T			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr21:45542224C>T	ENST00000291576.7	+	14	1930	c.1803C>T	c.(1801-1803)caC>caT	p.H601H		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	601					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CAGCCAAGCACGCGGCCAAGG	0.587																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(1801-1803)caC>caT		PWP2 periodic tryptophan protein homolog (yeast)							90.0	63.0	72.0					21																	45542224		2203	4300	6503	SO:0001819	synonymous_variant	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45542224C>T		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1803C>T	21.37:g.45542224C>T							p.H601H	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	14	1930	+			601					B2RAG8|Q96A77	Silent	SNP	ENST00000291576.7	37	c.1803C>T	CCDS33579.1																																																																																				0.587	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		18	25	0	0	0	1	0	18	25				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	69	0	0	0	1	0	4	69				
CCDC8	83987	broad.mit.edu	37	19	46915066	46915066	+	Silent	SNP	A	A	G			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr19:46915066A>G	ENST00000307522.3	-	1	1775	c.1002T>C	c.(1000-1002)aaT>aaC	p.N334N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	334					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGATTATCTGCAG	0.597																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1000-1002)aaT>aaC		coiled-coil domain containing 8							94.0	100.0	98.0					19																	46915066		2203	4300	6503	SO:0001819	synonymous_variant	83987					plasma membrane		g.chr19:46915066A>G	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1002T>C	19.37:g.46915066A>G							p.N334N	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	1775	-			334					Q8TB26	Silent	SNP	ENST00000307522.3	37	c.1002T>C	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	A	5.110	0.205958	0.09704	.	.	ENSG00000169515	ENST00000540252	.	.	.	4.3	-8.59	0.00893	.	.	.	.	.	T	0.18509	0.0444	.	.	.	0.21147	N	0.999776	.	.	.	.	.	.	T	0.28004	-1.0057	5	0.22706	T	0.39	-0.1737	6.133	0.20215	0.5746:0.0:0.2521:0.1734	.	.	.	.	T	181	.	ENSP00000441180:I181T	I	-	2	0	CCDC8	51606906	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.996000	0.01471	-1.077000	0.03121	-2.151000	0.00333	ATC		0.597	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		5	159	0	0	0	1	0	5	159				
TBX2	6909	broad.mit.edu	37	17	59485502	59485502	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr17:59485502G>A	ENST00000240328.3	+	7	2055	c.1774G>A	c.(1774-1776)Gcc>Acc	p.A592T	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	592	Ala-rich.|Repression domain 1 (RD1).				aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						ggctttgcccgccactagtgc	0.672																																					GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(1774-1776)Gcc>Acc		T-box 2							11.0	14.0	13.0					17																	59485502		2030	4050	6080	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59485502G>A	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1774G>A	17.37:g.59485502G>A	ENSP00000240328:p.Ala592Thr					RP11-332H18.4_ENST00000592009.1_RNA	p.A592T	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN			7	2055	+			592			Ala-rich.		Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.1774G>A	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457912	0.84317	.	.	ENSG00000121068	ENST00000240328	D	0.87729	-2.29	5.01	5.01	0.66863	.	0.593663	0.16529	N	0.210432	T	0.78227	0.4250	N	0.14661	0.345	0.47819	D	0.999522	P	0.52842	0.956	B	0.39299	0.296	T	0.81848	-0.0744	10	0.52906	T	0.07	.	17.061	0.86547	0.0:0.0:1.0:0.0	.	592	Q13207	TBX2_HUMAN	T	592	ENSP00000240328:A592T	ENSP00000240328:A592T	A	+	1	0	TBX2	56840284	.	.	1.000000	0.80357	0.887000	0.51463	.	.	2.608000	0.88229	0.655000	0.94253	GCC		0.672	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		3	15	0	0	0	1	0	3	15				
UNC13D	201294	broad.mit.edu	37	17	73830422	73830422	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr17:73830422C>T	ENST00000207549.4	-	23	2661	c.2282G>A	c.(2281-2283)cGc>cAc	p.R761H	UNC13D_ENST00000412096.2_Missense_Mutation_p.R761H	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	761					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCAGGGTGCGGACGCCAGT	0.682									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000207549.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2281-2283)cGc>cAc		unc-13 homolog D (C. elegans)							30.0	26.0	27.0					17																	73830422		2198	4293	6491	SO:0001583	missense	201294	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73830422C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2282G>A	17.37:g.73830422C>T	ENSP00000207549:p.Arg761His					UNC13D_ENST00000412096.2_Missense_Mutation_p.R761H	p.R761H	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		23	2661	-			761					B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	c.2282G>A	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613879	0.28712	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.70749	-0.49;-0.51	4.79	2.81	0.32909	.	0.480344	0.22763	N	0.055922	T	0.54727	0.1876	L	0.36672	1.1	0.34002	D	0.650405	B;P	0.44816	0.001;0.844	B;B	0.38616	0.003;0.277	T	0.62742	-0.6790	10	0.46703	T	0.11	-1.2816	6.1962	0.20552	0.0:0.5833:0.0:0.4167	.	761;761	Q70J99-3;Q70J99	.;UN13D_HUMAN	H	761	ENSP00000207549:R761H;ENSP00000388093:R761H	ENSP00000207549:R761H	R	-	2	0	UNC13D	71342017	0.960000	0.32886	0.948000	0.38648	0.280000	0.26924	1.788000	0.38714	0.629000	0.30376	-0.463000	0.05309	CGC		0.682	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		3	10	0	0	0	1	0	3	10				
EEF1DP3	196549	broad.mit.edu	37	13	32527237	32527237	+	RNA	SNP	G	G	A			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr13:32527237G>A	ENST00000428783.1	+	0	937							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										CCGCGCTGGTGGCCAAGTCCT	0.627																																						ENST00000428783.1																			0																																																			0							g.chr13:32527237G>A			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527237G>A														0	937	+								Q08AR3	RNA	SNP	ENST00000428783.1	37																																																																																						0.627	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		3	19	0	0	0	1	0	3	19				
UBR4	23352	broad.mit.edu	37	1	19525140	19525140	+	Silent	SNP	G	G	A			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr1:19525140G>A	ENST00000375254.3	-	5	570	c.543C>T	c.(541-543)agC>agT	p.S181S	UBR4_ENST00000375217.2_Silent_p.S181S|UBR4_ENST00000375267.2_Silent_p.S181S|UBR4_ENST00000375226.2_Silent_p.S181S	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	181					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V180fs*18(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAACTCAGGGCTTACTGGTG	0.443																																						ENST00000375267.2																			1	Deletion - Frameshift(1)	p.V180fs*18(1)	kidney(1)	breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(541-543)agC>agT		ubiquitin protein ligase E3 component n-recognin 4							80.0	81.0	80.0					1																	19525140		2203	4300	6503	SO:0001819	synonymous_variant	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19525140G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.543C>T	1.37:g.19525140G>A						UBR4_ENST00000375226.2_Silent_p.S181S|UBR4_ENST00000375254.3_Silent_p.S181S|UBR4_ENST00000375217.2_Silent_p.S181S	p.S181S			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	5	546	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	181					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	c.543C>T	CCDS189.1																																																																																				0.443	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		20	28	0	0	0	1	0	20	28				
PRR12	57479	broad.mit.edu	37	19	50098775	50098775	+	Missense_Mutation	SNP	G	G	T			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr19:50098775G>T	ENST00000418929.2	+	4	1195	c.1183G>T	c.(1183-1185)Ggt>Tgt	p.G395C		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGGCAAAGGTGGTTATGGAGC	0.701																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(1183-1185)Ggt>Tgt		proline rich 12							8.0	8.0	8.0					19																	50098775		1776	3947	5723	SO:0001583	missense	57479						DNA binding	g.chr19:50098775G>T	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1183G>T	19.37:g.50098775G>T	ENSP00000394510:p.Gly395Cys						p.G395C	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	1195	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	135			Pro-rich.		E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	c.1183G>T	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	8.767	0.924901	0.18056	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.58	3.58	0.41010	.	.	.	.	.	T	0.62877	0.2464	.	.	.	0.27277	N	0.95821	D	0.89917	1.0	D	0.87578	0.998	T	0.51244	-0.8730	7	0.38643	T	0.18	.	10.8868	0.46972	0.0:0.0:1.0:0.0	.	395	Q9ULL5-3	.	C	395	.	ENSP00000394510:G395C	G	+	1	0	PRR12	54790587	0.926000	0.31397	0.990000	0.47175	0.928000	0.56348	3.990000	0.56965	2.024000	0.59613	0.455000	0.32223	GGT		0.701	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		3	9	1	0	6.4e-05	1	6.93333e-05	3	9				
TRIP11	9321	broad.mit.edu	37	14	92484052	92484052	+	Missense_Mutation	SNP	T	T	C			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr14:92484052T>C	ENST00000267622.4	-	5	1004	c.631A>G	c.(631-633)Ata>Gta	p.I211V		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	211					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AGTTTACATATTTCACTTTGA	0.299			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	ENST00000267622.4				Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		0				breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(631-633)Ata>Gta		thyroid hormone receptor interactor 11							94.0	83.0	87.0					14																	92484052		2201	4296	6497	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92484052T>C	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.631A>G	14.37:g.92484052T>C	ENSP00000267622:p.Ile211Val						p.I211V	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	5	1004	-			211					B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.631A>G	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	12.44	1.939215	0.34189	.	.	ENSG00000100815	ENST00000267622;ENST00000555516	T;T	0.66460	-0.21;-0.21	5.12	3.97	0.46021	.	0.118100	0.56097	N	0.000032	T	0.57286	0.2043	L	0.47190	1.495	0.33297	D	0.564295	B	0.18013	0.025	B	0.24006	0.05	T	0.59648	-0.7415	10	0.21014	T	0.42	.	10.8992	0.47040	0.0:0.0746:0.0:0.9254	.	211	Q15643	TRIPB_HUMAN	V	211;50	ENSP00000267622:I211V;ENSP00000451944:I50V	ENSP00000267622:I211V	I	-	1	0	TRIP11	91553805	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.988000	0.40697	0.891000	0.36235	0.533000	0.62120	ATA		0.299	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			7	8	0	0	0	1	0	7	8				
RASGEF1B	153020	broad.mit.edu	37	4	82369389	82369389	+	Missense_Mutation	SNP	T	T	C			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr4:82369389T>C	ENST00000264400.2	-	5	639	c.488A>G	c.(487-489)aAg>aGg	p.K163R	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.K121R|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.K162R	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	163	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						CGCAGCAAGCTTGCGGATCAG	0.483																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(484-486)aAg>aGg		RasGEF domain family, member 1B							200.0	176.0	184.0					4																	82369389		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82369389T>C	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.488A>G	4.37:g.82369389T>C	ENSP00000264400:p.Lys163Arg					RASGEF1B_ENST00000264400.2_Missense_Mutation_p.K163R|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.K121R	p.K162R			Q0VAM2	RGF1B_HUMAN			5	706	-			163			N-terminal Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.485A>G	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	T	9.690	1.151737	0.21371	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.31	5.31	0.75309	Ras guanine nucleotide exchange factor, domain (1);	0.045497	0.85682	D	0.000000	T	0.14874	0.0359	N	0.05177	-0.1	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.10450	0.005;0.003;0.002	T	0.08659	-1.0711	10	0.06494	T	0.89	.	15.0996	0.72262	0.0:0.0:0.0:1.0	.	121;162;163	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	R	162;163;121;8	ENSP00000425393:K162R;ENSP00000264400:K163R;ENSP00000338437:K121R;ENSP00000426929:K8R	ENSP00000264400:K163R	K	-	2	0	RASGEF1B	82588413	1.000000	0.71417	0.920000	0.36463	0.864000	0.49448	5.539000	0.67199	2.243000	0.73865	0.482000	0.46254	AAG		0.483	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		5	93	0	0	0	1	0	5	93				
ARHGEF10L	55160	broad.mit.edu	37	1	17982398	17982398	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr1:17982398delG	ENST00000361221.3	+	24	2665	c.2506delG	c.(2506-2508)gggfs	p.G837fs	ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.G798fs|ARHGEF10L_ENST00000375408.3_Frame_Shift_Del_p.G610fs|ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.G832fs|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.G798fs|ARHGEF10L_ENST00000167825.4_Frame_Shift_Del_p.G540fs	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	837						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GGAAGGCGCAGGGGGCCAGGT	0.642																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2506-2508)ggfs		Rho guanine nucleotide exchange factor (GEF) 10-like							16.0	19.0	18.0					1																	17982398		2175	4250	6425	SO:0001589	frameshift_variant	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17982398delG	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2506delG	1.37:g.17982398delG	ENSP00000355060:p.Gly837fs					ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Frame_Shift_Del_p.G798fs|ARHGEF10L_ENST00000375408.3_Frame_Shift_Del_p.G610fs|ARHGEF10L_ENST00000434513.1_Frame_Shift_Del_p.G832fs|ARHGEF10L_ENST00000167825.4_Frame_Shift_Del_p.G540fs|ARHGEF10L_ENST00000452522.1_Frame_Shift_Del_p.G798fs	p.G837fs	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	24	2665	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	837					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Frame_Shift_Del	DEL	ENST00000361221.3	37	c.2506delG	CCDS182.1																																																																																				0.642	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		2	4						2	4	---	---	---	---
ALMS1P	200420	broad.mit.edu	37	2	73902182	73902183	+	RNA	INS	-	-	A			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr2:73902182_73902183insA	ENST00000450720.1	+	0	985					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												TTATGGCACTGAAAAAAAAAGT	0.347																																						ENST00000450720.1																			0																																																			0							g.chr2:73902182_73902183insA	BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73902191_73902191dupA								NR_003683.2						0	985	+									RNA	INS	ENST00000450720.1	37																																																																																						0.347	ALMS1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339824.1	NR_003683		2	4						2	4	---	---	---	---
KIF5C	3800	broad.mit.edu	37	2	149793841	149793841	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr2:149793841delT	ENST00000435030.1	+	4	703	c.335delT	c.(334-336)attfs	p.I112fs	KIF5C_ENST00000414838.2_Frame_Shift_Del_p.I17fs			O60282	KIF5C_HUMAN	kinesin family member 5C	112	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATCCCACGAATTGCCCATGAT	0.493																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(334-336)atfs		kinesin family member 5C							51.0	49.0	49.0					2																	149793841		1946	4190	6136	SO:0001589	frameshift_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149793841delT	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.335delT	2.37:g.149793841delT	ENSP00000393379:p.Ile112fs					KIF5C_ENST00000414838.2_Frame_Shift_Del_p.I17fs	p.I112fs			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	4	703	+			112			Kinesin-motor.		O95079|Q2YDC5	Frame_Shift_Del	DEL	ENST00000435030.1	37	c.335delT																																																																																					0.493	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		2	4						2	4	---	---	---	---
MLXIPL	51085	broad.mit.edu	37	7	73020366	73020366	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr7:73020366delC	ENST00000313375.3	-	6	741	c.694delG	c.(694-696)gacfs	p.D232fs	MLXIPL_ENST00000354613.1_Frame_Shift_Del_p.D232fs|MLXIPL_ENST00000429400.2_Frame_Shift_Del_p.D232fs|MLXIPL_ENST00000414749.2_Frame_Shift_Del_p.D232fs|MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000434326.1_Intron	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	232					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTCTGGGTCCCCCAGCAGC	0.632																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(694-696)acfs		MLX interacting protein-like							22.0	24.0	23.0					7																	73020366		2202	4297	6499	SO:0001589	frameshift_variant	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73020366delC	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.694delG	7.37:g.73020366delC	ENSP00000320886:p.Asp232fs					MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000354613.1_Frame_Shift_Del_p.D232fs|MLXIPL_ENST00000434326.1_Intron|MLXIPL_ENST00000429400.2_Frame_Shift_Del_p.D232fs|MLXIPL_ENST00000414749.2_Frame_Shift_Del_p.D232fs	p.D232fs	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			6	741	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	232					C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Frame_Shift_Del	DEL	ENST00000313375.3	37	c.694delG	CCDS5553.1																																																																																				0.632	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		2	4						2	4	---	---	---	---
FBXO7	25793	broad.mit.edu	37	22	32889228	32889228	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FK-A4UB-01A-11D-A257-08	TCGA-FK-A4UB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27a87b73-18e7-4a46-919a-b8d2c61b7e68	ec0b1542-f2d7-40f1-8adb-c3d1e579be03	g.chr22:32889228delC	ENST00000266087.7	+	7	1431	c.1104delC	c.(1102-1104)gacfs	p.D368fs	FBXO7_ENST00000397426.1_Frame_Shift_Del_p.D254fs|FBXO7_ENST00000382058.3_Frame_Shift_Del_p.D289fs	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	368	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCAAATGACCCACTCCTGT	0.438																																						ENST00000266087.7																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1102-1104)gafs		F-box protein 7							227.0	192.0	204.0					22																	32889228		2203	4300	6503	SO:0001589	frameshift_variant	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32889228delC	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1104delC	22.37:g.32889228delC	ENSP00000266087:p.Asp368fs					FBXO7_ENST00000382058.3_Frame_Shift_Del_p.D289fs|FBXO7_ENST00000397426.1_Frame_Shift_Del_p.D254fs	p.D368fs	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN			7	1431	+			368			F-box.		B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Frame_Shift_Del	DEL	ENST00000266087.7	37	c.1104delC	CCDS13907.1																																																																																				0.438	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1			23	52						23	52	---	---	---	---
