#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
POU2F1	5451	broad.mit.edu	37	1	167334776	167334776	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr1:167334776C>A	ENST00000541643.3	+	4	293	c.131C>A	c.(130-132)gCg>gAg	p.A44E	POU2F1_ENST00000429375.2_Missense_Mutation_p.A67E|POU2F1_ENST00000420254.3_Missense_Mutation_p.A44E|POU2F1_ENST00000452019.1_Missense_Mutation_p.A44E|POU2F1_ENST00000367862.5_Missense_Mutation_p.A56E|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.A67E			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	44					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						ACAGCCCAGGCGCAGGCTTTC	0.483																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(166-168)gCg>gAg		POU class 2 homeobox 1							71.0	70.0	70.0					1																	167334776		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167334776C>A	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.131C>A	1.37:g.167334776C>A	ENSP00000441285:p.Ala44Glu					POU2F1_ENST00000541643.3_Missense_Mutation_p.A44E|POU2F1_ENST00000420254.3_Missense_Mutation_p.A44E|POU2F1_ENST00000367866.2_Missense_Mutation_p.A67E|POU2F1_ENST00000452019.1_Missense_Mutation_p.A44E|POU2F1_ENST00000429375.2_Missense_Mutation_p.A67E|POU2F1_ENST00000367865.1_3'UTR	p.A56E	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			3	402	+			44					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.167C>A		.	.	.	.	.	.	.	.	.	.	C	25.2	4.614244	0.87359	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000452019;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862	T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.91	5.91	0.95273	.	0.129656	0.53938	D	0.000056	T	0.79839	0.4515	L	0.48642	1.525	0.58432	D	0.999995	P;P;D;P	0.56287	0.918;0.951;0.975;0.798	B;P;P;B	0.55055	0.353;0.555;0.767;0.353	T	0.80926	-0.1164	10	0.87932	D	0	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	67;56;42;44	B4E029;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	E	67;67;44;42;44;44;56	ENSP00000356840:A67E;ENSP00000401217:A67E;ENSP00000391523:A44E;ENSP00000356839:A42E;ENSP00000414660:A44E;ENSP00000441285:A44E;ENSP00000356836:A56E	ENSP00000356836:A56E	A	+	2	0	POU2F1	165601400	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.547000	0.73892	2.814000	0.96858	0.650000	0.86243	GCG		0.483	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		3	93	1	0	0.00909568	0.009096	0.0113696	3	93				
FEZF2	55079	broad.mit.edu	37	3	62355986	62355986	+	Silent	SNP	G	G	A	rs528181161		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr3:62355986G>A	ENST00000283268.3	-	5	1446	c.1152C>T	c.(1150-1152)agC>agT	p.S384S	FEZF2_ENST00000475839.1_Silent_p.S384S|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|FEZF2_ENST00000486811.1_Silent_p.S384S	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	384					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GCTTCTCGCCGCTGTGGGTCA	0.507													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17169	0.0		0.0	False		,,,				2504	0.0				NSCLC(170;1772 2053 12525 15604 23984)	ENST00000283268.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20						c.(1150-1152)agC>agT		FEZ family zinc finger 2							244.0	226.0	232.0					3																	62355986		2203	4300	6503	SO:0001819	synonymous_variant	55079				transcription, DNA-dependent	nucleus	zinc ion binding	g.chr3:62355986G>A	AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"""Zinc fingers, C2H2-type"""	13506	protein-coding gene	gene with protein product		607414	"""zinc finger protein 312"""	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1152C>T	3.37:g.62355986G>A						FEZF2_ENST00000486811.1_Silent_p.S384S|FEZF2_ENST00000475839.1_Silent_p.S384S	p.S384S	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)	5	1446	-		Lung SC(41;0.0262)	384					A8K349|Q9BZ91|Q9NWB9	Silent	SNP	ENST00000283268.3	37	c.1152C>T	CCDS2897.1																																																																																				0.507	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351813.1	NM_018008		4	175	0	0	0	0.009096	0	4	175				
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	lincRNA	SNP	C	C	A	rs199554501	byFrequency	TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr3:195395402C>A	ENST00000445430.1	+	0	809									long intergenic non-protein coding RNA 969																		TACGGGCGCACCTACTTGAGC	0.597																																						ENST00000445430.1																			0																																																			0							g.chr3:195395402C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395402C>A														0	809	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	43	1	0	0.00307968	0.003080	0.00397378	4	43				
FRG1B	284802	broad.mit.edu	37	20	29625892	29625892	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr20:29625892T>C	ENST00000278882.3	+	5	516	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	46										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAATCTGGCTATGGAAAATA	0.348																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(136-138)Tat>Cat																																						SO:0001583	missense	0							g.chr20:29625892T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.136T>C	20.37:g.29625892T>C	ENSP00000278882:p.Tyr46His					FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H|FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H	p.Y46H							5	516	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.136T>C		.	.	.	.	.	.	.	.	.	.	t	11.71	1.718965	0.30503	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50548	0.74	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.53094	0.1775	.	.	.	0.48341	D	0.999631	P	0.36837	0.571	P	0.54499	0.754	T	0.46176	-0.9210	9	0.28530	T	0.3	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	51	F5H5R5	.	H	46;51;46	ENSP00000408863:Y51H	ENSP00000278882:Y46H	Y	+	1	0	FRG1B	28239553	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	TAT		0.348	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	134	0	0	0	0.003080	0	3	134				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	168	0	0	0	0.014758	0	5	168				
CWF19L1	55280	broad.mit.edu	37	10	101992995	101992995	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr10:101992995G>C	ENST00000354105.4	-	14	1692	c.1606C>G	c.(1606-1608)Ctg>Gtg	p.L536V	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.L251V|RP11-316M21.6_ENST00000444359.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	536							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TAGTCATCCAGAGTAAAGTCA	0.398																																						ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(1606-1608)Ctg>Gtg		CWF19-like 1, cell cycle control (S. pombe)							89.0	97.0	94.0					10																	101992995		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:101992995G>C	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1606C>G	10.37:g.101992995G>C	ENSP00000326411:p.Leu536Val					CWF19L1_ENST00000370379.1_Missense_Mutation_p.L251V|CWF19L1_ENST00000478047.1_5'UTR|RP11-316M21.6_ENST00000444359.1_RNA	p.L536V	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	14	1692	-		Colorectal(252;0.117)	536					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.1606C>G	CCDS7489.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477107	0.44044	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.23950	2.16;1.88	5.53	2.57	0.30868	.	0.385282	0.26446	N	0.024323	T	0.19765	0.0475	L	0.41906	1.305	0.33987	D	0.648614	B;B;B	0.13594	0.008;0.001;0.003	B;B;B	0.16289	0.015;0.008;0.003	T	0.11966	-1.0566	10	0.45353	T	0.12	1.5978	8.9367	0.35704	0.0794:0.4438:0.4768:0.0	.	240;399;536	Q69YN2-2;Q69YN2-3;Q69YN2	.;.;C19L1_HUMAN	V	536;251	ENSP00000326411:L536V;ENSP00000359405:L251V	ENSP00000326411:L536V	L	-	1	2	CWF19L1	101982985	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	1.418000	0.34782	0.249000	0.21456	0.561000	0.74099	CTG		0.398	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		3	150	0	0	0	0.004672	0	3	150				
SLC18A2	6571	broad.mit.edu	37	10	119003687	119003687	+	Silent	SNP	C	C	T	rs150696989		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr10:119003687C>T	ENST00000298472.5	+	3	470	c.327C>T	c.(325-327)aaC>aaT	p.N109N	RP11-501J20.5_ENST00000425264.1_RNA|SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	109					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TGGTGACCAACGCGTCCGCTG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		20650	0.0		0.001	False		,,,				2504	0.0					ENST00000298472.5																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(325-327)aaC>aaT		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						115.0	99.0	104.0					10																	119003687		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119003687C>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.327C>T	10.37:g.119003687C>T						SLC18A2_ENST00000497497.1_3'UTR	p.N109N	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	3	470	+		Colorectal(252;0.19)	109					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.327C>T	CCDS7599.1																																																																																				0.517	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		4	150	0	0	0	0.014758	0	4	150				
DNAJC13	23317	broad.mit.edu	37	3	132196865	132196865	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr3:132196865A>C	ENST00000260818.6	+	24	2838	c.2590A>C	c.(2590-2592)Acc>Ccc	p.T864P		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	864					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CTTCTTGCTCACCCCAAAAGT	0.328																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(2590-2592)Acc>Ccc		DnaJ (Hsp40) homolog, subfamily C, member 13							78.0	80.0	79.0					3																	132196865		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132196865A>C	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.2590A>C	3.37:g.132196865A>C	ENSP00000260818:p.Thr864Pro						p.T864P	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			24	2838	+			864					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.2590A>C	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391261	0.82902	.	.	ENSG00000138246	ENST00000260818	T	0.13420	2.59	5.41	5.41	0.78517	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.24624	0.0597	M	0.64997	1.995	0.80722	D	1	D	0.54964	0.969	P	0.50352	0.638	T	0.01021	-1.1478	10	0.35671	T	0.21	.	15.7331	0.77822	1.0:0.0:0.0:0.0	.	864	O75165	DJC13_HUMAN	P	864	ENSP00000260818:T864P	ENSP00000260818:T864P	T	+	1	0	DNAJC13	133679555	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	8.743000	0.91592	2.169000	0.68431	0.528000	0.53228	ACC		0.328	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		67	69	0	0	0	0.014410	0	67	69				
EPPK1	83481	broad.mit.edu	37	8	144945212	144945212	+	Missense_Mutation	SNP	C	C	T	rs574794307		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr8:144945212C>T	ENST00000525985.1	-	2	2281	c.2210G>A	c.(2209-2211)cGc>cAc	p.R737H				P58107	EPIPL_HUMAN	epiplakin 1	737						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACGGGCACGCGGTGGCTGTG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		28287	0.0		0.0	False		,,,				2504	0.001					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2209-2211)cGc>cAc		epiplakin 1							71.0	76.0	74.0					8																	144945212		2026	4146	6172	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945212C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2210G>A	8.37:g.144945212C>T	ENSP00000436337:p.Arg737His						p.R737H			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2281	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		737					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.2210G>A		.	.	.	.	.	.	.	.	.	.	C	28.0	4.879727	0.91740	.	.	ENSG00000227184	ENST00000525985	T	0.78924	-1.22	5.06	5.06	0.68205	.	.	.	.	.	D	0.89230	0.6656	M	0.88181	2.935	0.35373	D	0.789256	D	0.89917	1.0	D	0.70487	0.969	D	0.92769	0.6230	9	0.51188	T	0.08	.	15.9742	0.80049	0.0:1.0:0.0:0.0	.	737	E9PPU0	.	H	737	ENSP00000436337:R737H	ENSP00000436337:R737H	R	-	2	0	EPPK1	145017200	1.000000	0.71417	0.987000	0.45799	0.889000	0.51656	4.706000	0.61845	2.643000	0.89663	0.655000	0.94253	CGC		0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		4	159	0	0	0	0.009096	0	4	159				
SPTAN1	6709	broad.mit.edu	37	9	131339474	131339474	+	Silent	SNP	C	C	T			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr9:131339474C>T	ENST00000372731.4	+	7	962	c.852C>T	c.(850-852)ggC>ggT	p.G284G	SPTAN1_ENST00000372739.3_Silent_p.G284G|SPTAN1_ENST00000358161.5_Silent_p.G284G	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	284					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.G284G(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATGATTTTGGCCGAGACCTGG	0.483																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			1	Substitution - coding silent(1)	p.G284G(1)	prostate(1)	NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(850-852)ggC>ggT		spectrin, alpha, non-erythrocytic 1							146.0	150.0	149.0					9																	131339474		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131339474C>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.852C>T	9.37:g.131339474C>T						SPTAN1_ENST00000372731.4_Silent_p.G284G|SPTAN1_ENST00000358161.5_Silent_p.G284G	p.G284G	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			7	962	+			284					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.852C>T	CCDS6905.1																																																																																				0.483	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		4	236	0	0	0	0.014758	0	4	236				
CDKL2	8999	broad.mit.edu	37	4	76522210	76522210	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr4:76522210C>T	ENST00000429927.2	-	9	1934	c.1231G>A	c.(1231-1233)Gca>Aca	p.A411T	CDKL2_ENST00000307465.4_Missense_Mutation_p.A411T	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	411			A -> V (in dbSNP:rs56231363). {ECO:0000269|PubMed:17344846}.		sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGGGGAATTGCCACGCTTGGA	0.463																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(1231-1233)Gca>Aca		cyclin-dependent kinase-like 2 (CDC2-related kinase)							260.0	229.0	240.0					4																	76522210		2203	4300	6503	SO:0001583	missense	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76522210C>T	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.1231G>A	4.37:g.76522210C>T	ENSP00000412365:p.Ala411Thr					CDKL2_ENST00000307465.4_Missense_Mutation_p.A411T	p.A411T	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		9	1934	-			411		A -> V (in dbSNP:rs56231363).			B2R695	Missense_Mutation	SNP	ENST00000429927.2	37	c.1231G>A	CCDS3570.1	.	.	.	.	.	.	.	.	.	.	C	3.155	-0.173447	0.06421	.	.	ENSG00000138769	ENST00000429927;ENST00000307465	T;T	0.69926	0.84;-0.44	4.74	3.85	0.44370	.	.	.	.	.	T	0.47544	0.1451	L	0.27053	0.805	0.09310	N	1	P;B	0.38922	0.651;0.036	B;B	0.33521	0.165;0.018	T	0.23691	-1.0181	9	0.10111	T	0.7	-6.4203	11.7076	0.51605	0.1755:0.8245:0.0:0.0	.	411;411	B4DH08;Q92772	.;CDKL2_HUMAN	T	411	ENSP00000412365:A411T;ENSP00000306340:A411T	ENSP00000306340:A411T	A	-	1	0	CDKL2	76741234	0.325000	0.24660	0.035000	0.18076	0.009000	0.06853	2.535000	0.45685	2.443000	0.82685	0.591000	0.81541	GCA		0.463	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		5	222	0	0	0	0.014758	0	5	222				
PITPNA	5306	broad.mit.edu	37	17	1437423	1437423	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr17:1437423C>T	ENST00000313486.7	-	10	993	c.738G>A	c.(736-738)atG>atA	p.M246I	PITPNA_ENST00000539476.1_Missense_Mutation_p.M246I	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	246					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TCTCTTCTTCCATCCTTCGAA	0.483																																						ENST00000313486.7																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						c.(736-738)atG>atA		phosphatidylinositol transfer protein, alpha							195.0	192.0	193.0					17																	1437423		1938	4154	6092	SO:0001583	missense	5306				axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding	g.chr17:1437423C>T	M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"""phosphotidylinositol transfer protein"""	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.738G>A	17.37:g.1437423C>T	ENSP00000316809:p.Met246Ile					PITPNA_ENST00000539476.1_Missense_Mutation_p.M246I	p.M246I	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)	10	993	-			246						Missense_Mutation	SNP	ENST00000313486.7	37	c.738G>A	CCDS45563.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832016	0.50845	.	.	ENSG00000174238	ENST00000539476;ENST00000313486;ENST00000539870	T;T	0.42513	0.97;0.97	6.17	6.17	0.99709	START-like domain (1);	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	N	0.17872	0.535	0.80722	D	1	B;P	0.39352	0.001;0.669	B;P	0.54238	0.007;0.746	T	0.07849	-1.0751	10	0.09843	T	0.71	.	19.4432	0.94831	0.0:1.0:0.0:0.0	.	173;246	B4E1U1;Q00169	.;PIPNA_HUMAN	I	246;246;173	ENSP00000441869:M246I;ENSP00000316809:M246I	ENSP00000316809:M246I	M	-	3	0	PITPNA	1384173	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.756000	0.85195	2.941000	0.99782	0.655000	0.94253	ATG		0.483	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438927.3			5	349	0	0	0	0.021553	0	5	349				
ALOXE3	59344	broad.mit.edu	37	17	8012504	8012504	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr17:8012504G>A	ENST00000448843.2	-	12	1890	c.1550C>T	c.(1549-1551)gCg>gTg	p.A517V	ALOXE3_ENST00000318227.3_Missense_Mutation_p.A649V|ALOXE3_ENST00000380149.1_Missense_Mutation_p.A673V	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	517	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CTCAATGGCCGCCCAGATCTT	0.652																																						ENST00000380149.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						c.(2017-2019)gCg>gTg		arachidonate lipoxygenase 3							54.0	50.0	52.0					17																	8012504		2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8012504G>A	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1550C>T	17.37:g.8012504G>A	ENSP00000400581:p.Ala517Val					ALOXE3_ENST00000318227.3_Missense_Mutation_p.A649V|ALOXE3_ENST00000448843.2_Missense_Mutation_p.A517V	p.A673V			Q9BYJ1	LOXE3_HUMAN			11	2048	-			517			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.2018C>T	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866687	0.32977	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.90133	-2.62;-2.62;-2.62	5.07	1.72	0.24424	Lipoxygenase, C-terminal (3);	0.590997	0.19378	N	0.115723	D	0.86916	0.6048	L	0.49126	1.545	0.09310	N	1	P;P;P	0.44309	0.832;0.657;0.657	P;B;B	0.44561	0.453;0.23;0.23	T	0.77640	-0.2512	10	0.42905	T	0.14	-8.5284	7.1872	0.25806	0.0741:0.2085:0.602:0.1153	.	649;517;517	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	V	673;649;517	ENSP00000369494:A673V;ENSP00000314879:A649V;ENSP00000400581:A517V	ENSP00000314879:A649V	A	-	2	0	ALOXE3	7953229	0.256000	0.24012	0.451000	0.26982	0.669000	0.39330	0.655000	0.24933	0.326000	0.23384	-1.134000	0.01955	GCG		0.652	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			38	38	0	0	0	0.036044	0	38	38				
APBA3	9546	broad.mit.edu	37	19	3760113	3760113	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr19:3760113C>A	ENST00000316757.3	-	2	350	c.150G>T	c.(148-150)atG>atT	p.M50I	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	50					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCAAGTTCCATCCGACTGA	0.632																																						ENST00000316757.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(148-150)atG>atT		amyloid beta (A4) precursor protein-binding, family A, member 3							53.0	56.0	55.0					19																	3760113		2203	4296	6499	SO:0001583	missense	9546				intracellular signal transduction|protein transport	intracellular|membrane	protein binding	g.chr19:3760113C>A	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.150G>T	19.37:g.3760113C>A	ENSP00000315136:p.Met50Ile						p.M50I	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	2	350	-		Hepatocellular(1079;0.137)	50					O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	c.150G>T	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107859	0.77096	.	.	ENSG00000011132	ENST00000316757	T	0.08896	3.04	4.73	4.73	0.59995	.	0.251314	0.28001	N	0.016992	T	0.08537	0.0212	L	0.32530	0.975	0.33129	D	0.542862	B	0.25667	0.131	B	0.21546	0.035	T	0.05517	-1.0880	10	0.72032	D	0.01	.	14.4235	0.67200	0.0:1.0:0.0:0.0	.	50	O96018	APBA3_HUMAN	I	50	ENSP00000315136:M50I	ENSP00000315136:M50I	M	-	3	0	APBA3	3711113	1.000000	0.71417	0.879000	0.34478	0.803000	0.45373	3.059000	0.49947	2.171000	0.68590	0.561000	0.74099	ATG		0.632	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			4	132	1	0	0.014758	0.014758	0.0178885	4	132				
OR4K5	79317	broad.mit.edu	37	14	20388874	20388874	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr14:20388874G>A	ENST00000315915.4	+	1	134	c.109G>A	c.(109-111)Gtc>Atc	p.V37I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTGTATACAGTCATTGTGCT	0.408																																						ENST00000315915.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(109-111)Gtc>Atc		olfactory receptor, family 4, subfamily K, member 5							200.0	208.0	205.0					14																	20388874		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20388874G>A	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.109G>A	14.37:g.20388874G>A	ENSP00000319511:p.Val37Ile						p.V37I	NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	134	+	all_cancers(95;0.00108)		37					Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.109G>A	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	4.795	0.147842	0.09134	.	.	ENSG00000176281	ENST00000315915	T	0.00578	6.44	4.41	-2.62	0.06152	.	0.835490	0.10156	N	0.708949	T	0.00356	0.0011	N	0.11892	0.195	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39702	-0.9601	10	0.37606	T	0.19	.	3.3541	0.07163	0.3386:0.0:0.2306:0.4308	.	37	Q8NGD3	OR4K5_HUMAN	I	37	ENSP00000319511:V37I	ENSP00000319511:V37I	V	+	1	0	OR4K5	19458714	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-0.825000	0.04433	-0.129000	0.11620	0.655000	0.94253	GTC		0.408	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		5	227	0	0	0	0.029380	0	5	227				
IGHV3-43	28426	broad.mit.edu	37	14	106926482	106926482	+	RNA	SNP	T	T	C			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr14:106926482T>C	ENST00000434710.1	-	0	139									immunoglobulin heavy variable 3-43																		CCAGCTGCACTTCACACTGGA	0.527																																						ENST00000434710.1																			0																				176.0	114.0	134.0					14																	106926482		2031	4150	6181			0							g.chr14:106926482T>C	M99672		14q32.33	2012-02-08			ENSG00000232216	ENSG00000232216		"""Immunoglobulins / IGH locus"""	5604	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152094		14.37:g.106926482T>C														0	139	-									RNA	SNP	ENST00000434710.1	37																																																																																						0.527	IGHV3-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325191.1	NG_001019		3	178	0	0	0	0.004672	0	3	178				
MUC16	94025	broad.mit.edu	37	19	8987282	8987282	+	Silent	SNP	C	C	T	rs150582315		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr19:8987282C>T	ENST00000397910.4	-	68	42008	c.41805G>A	c.(41803-41805)ctG>ctA	p.L13935L	MUC16_ENST00000380951.5_Silent_p.L576L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13960				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCATGTAGCGCAGGTTGTTGA	0.597													c|||	1	0.000199681	0.0	0.0	5008	,	,		13301	0.001		0.0	False		,,,				2504	0.0					ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(41803-41805)ctG>ctA		mucin 16, cell surface associated							118.0	118.0	118.0					19																	8987282		2148	4262	6410	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8987282C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41805G>A	19.37:g.8987282C>T						MUC16_ENST00000380951.5_Silent_p.L576L	p.L13935L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			68	42008	-			13960	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.41805G>A	CCDS54212.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.635	-0.815552	0.02776	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.45	-0.292	0.12839	.	.	.	.	.	T	0.26448	0.0646	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29518	-1.0009	3	.	.	.	.	2.1927	0.03903	0.1975:0.4943:0.1925:0.1156	.	.	.	.	Y	775	.	.	C	-	2	0	MUC16	8848282	0.969000	0.33509	0.995000	0.50966	0.074000	0.17049	-0.173000	0.09854	0.054000	0.16065	0.460000	0.39030	TGC		0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		13	47	0	0	0	0.016723	0	13	47				
CDH8	1006	broad.mit.edu	37	16	62055204	62055204	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr16:62055204G>C	ENST00000577390.1	-	2	1058	c.104C>G	c.(103-105)tCt>tGt	p.S35C	CDH8_ENST00000584337.1_Missense_Mutation_p.S35C|CDH8_ENST00000299345.6_Missense_Mutation_p.S35C|CDH8_ENST00000577730.1_Missense_Mutation_p.S35C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	35					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAAAACTTGAGACTGATTCAT	0.438																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(103-105)tCt>tGt		cadherin 8, type 2							82.0	83.0	82.0					16																	62055204		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:62055204G>C	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.104C>G	16.37:g.62055204G>C	ENSP00000462701:p.Ser35Cys					CDH8_ENST00000299345.6_Missense_Mutation_p.S35C|CDH8_ENST00000584337.1_Missense_Mutation_p.S35C|CDH8_ENST00000577730.1_Missense_Mutation_p.S35C	p.S35C	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	2	1058	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	35					B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.104C>G	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548706	0.65311	.	.	ENSG00000150394	ENST00000299345	T	0.56611	0.45	6.17	6.17	0.99709	.	0.393126	0.29410	N	0.012237	T	0.57066	0.2028	L	0.55481	1.735	0.45946	D	0.99877	B	0.26876	0.162	B	0.32980	0.156	T	0.52056	-0.8626	10	0.52906	T	0.07	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	35	P55286	CADH8_HUMAN	C	35	ENSP00000299345:S35C	ENSP00000299345:S35C	S	-	2	0	CDH8	60612705	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.148000	0.94652	2.941000	0.99782	0.655000	0.94253	TCT		0.438	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		4	85	0	0	0	0.009096	0	4	85				
KRTAP10-1	386677	broad.mit.edu	37	21	45959307	45959307	+	Missense_Mutation	SNP	C	C	T	rs372126563		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr21:45959307C>T	ENST00000400375.1	-	1	771	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	243	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						ATACAGCAGGCGGGCCGGCAT	0.706																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(727-729)Gcc>Acc		keratin associated protein 10-1		C	,THR/ALA	0,4406		0,0,2203	59.0	68.0	65.0		,727	1.9	0.1	21		65	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	TSPEAR,KRTAP10-1	NM_144991.2,NM_198691.2	,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,243/283	45959307	1,13005	2203	4300	6503	SO:0001583	missense	386677					keratin filament		g.chr21:45959307C>T	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.727G>A	21.37:g.45959307C>T	ENSP00000383226:p.Ala243Thr					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.A243T	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	771	-			243			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	37	c.727G>A	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	c	0.483	-0.878771	0.02550	0.0	1.16E-4	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.01313	5.02	3.79	1.93	0.25924	.	.	.	.	.	T	0.00845	0.0028	N	0.04043	-0.29	0.09310	N	1	B	0.18863	0.031	B	0.12156	0.007	T	0.49293	-0.8955	9	0.34782	T	0.22	.	5.672	0.17728	0.1563:0.6479:0.0:0.1958	.	243	P60331	KR101_HUMAN	T	243	ENSP00000383226:A243T	ENSP00000383226:A243T	A	-	1	0	KRTAP10-1	44783735	0.000000	0.05858	0.080000	0.20451	0.002000	0.02628	-0.531000	0.06171	0.074000	0.16767	-1.094000	0.02160	GCC		0.706	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			33	72	0	0	0	0.010818	0	33	72				
NUP214	8021	broad.mit.edu	37	9	134019854	134019854	+	Silent	SNP	G	G	A	rs147598578	byFrequency	TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr9:134019854G>A	ENST00000359428.5	+	12	1626	c.1482G>A	c.(1480-1482)acG>acA	p.T494T	NUP214_ENST00000451030.1_Silent_p.T494T|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000411637.2_Silent_p.T494T			P35658	NU214_HUMAN	nucleoporin 214kDa	494	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CATCTGCTACGGTCACTGGGG	0.542			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(1480-1482)acG>acA		nucleoporin 214kDa							168.0	172.0	170.0					9																	134019854		2203	4300	6503	SO:0001819	synonymous_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134019854G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1482G>A	9.37:g.134019854G>A						RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Silent_p.T494T|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000451030.1_Silent_p.T494T|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA	p.T494T			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	12	1626	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	494			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	c.1482G>A	CCDS6940.1																																																																																				0.542	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		7	332	0	0	0	0.003080	0	7	332				
RUSC1	23623	broad.mit.edu	37	1	155296548	155296548	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr1:155296548C>T	ENST00000368352.5	+	8	2190	c.2039C>T	c.(2038-2040)gCc>gTc	p.A680V	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000292254.4_Missense_Mutation_p.A211V|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.A270V|RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000368349.4_Missense_Mutation_p.A211V	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	680					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CAGGCCCCTGCCCCTCCAGGC	0.652																																						ENST00000368352.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21						c.(2038-2040)gCc>gTc		RUN and SH3 domain containing 1							38.0	48.0	44.0					1																	155296548		2202	4296	6498	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155296548C>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.2039C>T	1.37:g.155296548C>T	ENSP00000357336:p.Ala680Val					RUSC1_ENST00000368347.4_Missense_Mutation_p.A270V|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Missense_Mutation_p.A211V|RUSC1_ENST00000292254.4_Missense_Mutation_p.A211V|RUSC1_ENST00000368354.3_Intron	p.A680V	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		8	2190	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		680					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.2039C>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	C	4.345	0.063514	0.08388	.	.	ENSG00000160753	ENST00000368352;ENST00000368347;ENST00000368349;ENST00000292254	T;T;T;T	0.31510	1.83;1.49;1.53;1.53	4.27	1.21	0.21127	.	0.741699	0.11344	N	0.573720	T	0.08670	0.0215	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.26744	0.001;0.001;0.001;0.158	B;B;B;B	0.17433	0.001;0.003;0.001;0.018	T	0.30297	-0.9983	10	0.33940	T	0.23	-2.1655	3.9482	0.09358	0.1648:0.5473:0.0:0.2879	.	178;211;270;680	B4DQB8;Q9BVN2-2;Q5T9V0;Q9BVN2	.;.;.;RUSC1_HUMAN	V	680;270;211;211	ENSP00000357336:A680V;ENSP00000357331:A270V;ENSP00000357333:A211V;ENSP00000292254:A211V	ENSP00000292254:A211V	A	+	2	0	RUSC1	153563172	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	-0.493000	0.06459	0.146000	0.19002	0.591000	0.81541	GCC		0.652	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			4	119	0	0	0	0.014758	0	4	119				
MCF2L2	23101	broad.mit.edu	37	3	182937644	182937644	+	Splice_Site	SNP	C	C	T			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr3:182937644C>T	ENST00000328913.3	-	21	2667	c.2370G>A	c.(2368-2370)aaG>aaA	p.K790K	MCF2L2_ENST00000473233.1_Splice_Site_p.K790K	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	790	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TATTGAGTACCTTAGCCGAGC	0.363																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.e21+1		MCF.2 cell line derived transforming sequence-like 2							61.0	62.0	62.0					3																	182937644		2203	4300	6503	SO:0001630	splice_region_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182937644C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2370+1G>A	3.37:g.182937644C>T						MCF2L2_ENST00000473233.1_Splice_Site_p.K790_splice	p.K790_splice	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		21	2667	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		790			DH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Splice_Site	SNP	ENST00000328913.3	37	c.2370_splice	CCDS3243.1																																																																																				0.363	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	Silent	36	74	0	0	0	0.019004	0	36	74				
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	lincRNA	SNP	G	G	A	rs62287990	byFrequency	TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr3:195395399G>A	ENST00000445430.1	+	0	806									long intergenic non-protein coding RNA 969																		GGCTACGGGCGCACCTACTTG	0.607																																						ENST00000445430.1																			0																																																			0							g.chr3:195395399G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395399G>A														0	806	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.607	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	40	0	0	0	0.004482	0	3	40				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	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		33	76	0	0	0	0.013726	0	33	76				
FAM133A	286499	broad.mit.edu	37	X	92964801	92964801	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chrX:92964801G>T	ENST00000355813.5	+	4	909	c.383G>T	c.(382-384)gGa>gTa	p.G128V	FAM133A_ENST00000332647.4_Missense_Mutation_p.G128V|FAM133A_ENST00000538690.1_Missense_Mutation_p.G128V|FAM133A_ENST00000322139.4_Missense_Mutation_p.G128V	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	128	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAGAAACAAGGAAAAAGGAGA	0.368																																						ENST00000538690.1																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						c.(382-384)gGa>gTa		family with sequence similarity 133, member A							20.0	18.0	19.0					X																	92964801		2195	4285	6480	SO:0001583	missense	286499							g.chrX:92964801G>T	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.383G>T	X.37:g.92964801G>T	ENSP00000348067:p.Gly128Val					FAM133A_ENST00000355813.5_Missense_Mutation_p.G128V|FAM133A_ENST00000322139.4_Missense_Mutation_p.G128V|FAM133A_ENST00000332647.4_Missense_Mutation_p.G128V	p.G128V	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN			5	944	+			128			Lys-rich.|Ser-rich.			Missense_Mutation	SNP	ENST00000355813.5	37	c.383G>T	CCDS14466.1	.	.	.	.	.	.	.	.	.	.	g	9.530	1.110640	0.20714	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	3.0	2.11	0.27256	.	0.475657	0.23426	N	0.048302	T	0.37128	0.0992	M	0.65975	2.015	0.35709	D	0.816211	B	0.11235	0.004	B	0.12837	0.008	T	0.38672	-0.9650	10	0.49607	T	0.09	-2.7748	6.5407	0.22378	0.0:0.0:0.7142:0.2858	.	128	Q8N9E0	F133A_HUMAN	V	128	ENSP00000441389:G128V;ENSP00000348067:G128V;ENSP00000318974:G128V;ENSP00000362169:G128V	ENSP00000318974:G128V	G	+	2	0	FAM133A	92851457	0.821000	0.29204	0.655000	0.29622	0.829000	0.46940	1.030000	0.30153	0.643000	0.30638	0.597000	0.82753	GGA		0.368	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698		6	19	1	0	0.0215528	0.021553	0.0253562	6	19				
PLCH1	23007	broad.mit.edu	37	3	155314069	155314069	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr3:155314069G>A	ENST00000340059.7	-	2	141	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	PLCH1_ENST00000460012.1_Missense_Mutation_p.R30W|PLCH1_ENST00000414191.1_Missense_Mutation_p.R30W|PLCH1_ENST00000447496.2_Missense_Mutation_p.R48W|PLCH1_ENST00000334686.6_Missense_Mutation_p.R30W|PLCH1_ENST00000494598.1_Missense_Mutation_p.R48W	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	48	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGGCGTGTCCGGTGCTCATCC	0.488																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(88-90)Cgg>Tgg		phospholipase C, eta 1							166.0	162.0	163.0					3																	155314069		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155314069G>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.142C>T	3.37:g.155314069G>A	ENSP00000345988:p.Arg48Trp					PLCH1_ENST00000494598.1_Missense_Mutation_p.R48W|PLCH1_ENST00000414191.1_Missense_Mutation_p.R30W|PLCH1_ENST00000334686.6_Missense_Mutation_p.R30W|PLCH1_ENST00000340059.7_Missense_Mutation_p.R48W|PLCH1_ENST00000447496.2_Missense_Mutation_p.R48W	p.R30W			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		3	445	-			48			PH.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.88C>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616595	0.66672	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	4.98	4.11	0.48088	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.131690	0.33161	N	0.005220	T	0.72787	0.3504	L	0.59436	1.845	0.54753	D	0.999986	D;D;D	0.89917	0.999;0.999;1.0	D;P;D	0.69479	0.944;0.88;0.964	T	0.72484	-0.4279	10	0.45353	T	0.12	.	12.1541	0.54066	0.0:0.0:0.5246:0.4754	.	30;48;48	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	W	48;30;48;48;30;30	ENSP00000419100:R48W;ENSP00000417502:R30W;ENSP00000402759:R48W;ENSP00000345988:R48W;ENSP00000335469:R30W;ENSP00000412977:R30W	ENSP00000335469:R30W	R	-	1	2	PLCH1	156796763	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	4.302000	0.59092	1.091000	0.41335	0.655000	0.94253	CGG		0.488	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		4	245	0	0	0	0.009096	0	4	245				
NRIP1	8204	broad.mit.edu	37	21	16338129	16338129	+	Silent	SNP	T	T	C			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr21:16338129T>C	ENST00000400202.1	-	3	3097	c.2385A>G	c.(2383-2385)ttA>ttG	p.L795L	NRIP1_ENST00000400199.1_Silent_p.L795L|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Silent_p.L795L			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	795	Interaction with ZNF366.|Repression domain 3.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CGGACACTGGTAAGGCAGGTG	0.448																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(2383-2385)ttA>ttG		nuclear receptor interacting protein 1							63.0	64.0	64.0					21																	16338129		2203	4299	6502	SO:0001819	synonymous_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338129T>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2385A>G	21.37:g.16338129T>C						NRIP1_ENST00000400199.1_Silent_p.L795L|NRIP1_ENST00000318948.4_Silent_p.L795L	p.L795L			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	3097	-			795			Repression domain 3.		Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.2385A>G	CCDS13568.1																																																																																				0.448	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		5	91	0	0	0	0.029380	0	5	91				
TECTA	7007	broad.mit.edu	37	11	120989075	120989075	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr11:120989075G>A	ENST00000392793.1	+	7	1122	c.851G>A	c.(850-852)cGc>cAc	p.R284H	TECTA_ENST00000264037.2_Missense_Mutation_p.R284H			O75443	TECTA_HUMAN	tectorin alpha	284	VWFC.		R -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R284H(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTCAAGTGCCGCTGTCTGGAT	0.507																																						ENST00000392793.1																		TECTA/TBCEL(2)	1	Substitution - Missense(1)	p.R284H(1)	breast(1)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(850-852)cGc>cAc		tectorin alpha							86.0	83.0	84.0					11																	120989075		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120989075G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.851G>A	11.37:g.120989075G>A	ENSP00000376543:p.Arg284His					TECTA_ENST00000264037.2_Missense_Mutation_p.R284H	p.R284H			O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	7	1122	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	284		R -> H (in a breast cancer sample; somatic mutation).	VWFC.			Missense_Mutation	SNP	ENST00000392793.1	37	c.851G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684232	0.88639	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.65549	-0.16;-0.16	5.68	5.68	0.88126	von Willebrand factor, type C (1);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	L	0.60845	1.875	0.45403	D	0.998384	D	0.89917	1.0	D	0.83275	0.996	T	0.76277	-0.3018	10	0.48119	T	0.1	.	19.7939	0.96471	0.0:0.0:1.0:0.0	.	284	O75443	TECTA_HUMAN	H	284	ENSP00000376543:R284H;ENSP00000264037:R284H	ENSP00000264037:R284H	R	+	2	0	TECTA	120494285	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.022000	0.88759	2.668000	0.90789	0.563000	0.77884	CGC		0.507	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		8	77	0	0	0	0.003080	0	8	77				
RP11-645C24.5	0	broad.mit.edu	37	16	21809170	21809170	+	lincRNA	SNP	T	T	C			TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr16:21809170T>C	ENST00000567370.1	-	0	0				RRN3P1_ENST00000546471.1_RNA																							ACTCTGAGGATACTGCAAACC	0.338																																						ENST00000546471.1																			0																																																			0							g.chr16:21809170T>C																													16.37:g.21809170T>C														0	2025	-									RNA	SNP	ENST00000567370.1	37																																																																																						0.338	RP11-645C24.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430026.1			35	44	0	0	0	0.015359	0	35	44				
ANKRD36BP2	645784	broad.mit.edu	37	2	89083951	89083951	+	RNA	DEL	A	A	-	rs111608027		TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr2:89083951delA	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		CTTTTTTTTCAGTGTATTTCT	0.348																																						ENST00000393525.3																			0																																																			0							g.chr2:89083951delA			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083951delA														0	576	+									RNA	DEL	ENST00000393525.3	37																																																																																						0.348	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			2	4						2	4	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs75328065|rs199840382|rs111245977|rs377667898|rs200554408|rs201436152	byFrequency	TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727																																						ENST00000296358.4																			1	Deletion - In frame(1)	p.L104_W106delLLW(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(310-318)del		otopetrin 1																																				SO:0001651	inframe_deletion	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228274_4228282delCCACAGCAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.310_318delCTGCTGTGG	4.37:g.4228274_4228282delCCACAGCAG	ENSP00000296358:p.Leu104_Trp106del						p.LLW104del	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	334_342	-			104					A1L476	In_Frame_Del	DEL	ENST00000296358.4	37	c.310_318delCTGCTGTGG	CCDS3372.1																																																																																				0.727	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		7	22						7	22	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-DJ-A13V-01A-11D-A10S-08	TCGA-DJ-A13V-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72d889ce-0e2a-4d0e-8109-e3c9f7983e84	0105ad75-3d9f-4651-8e51-7d405c2acd2f	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	0							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			3	3						3	3	---	---	---	---
