#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
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T	rs191279075	byFrequency	TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186									DNM1 pseudogene 47																		GTCCAACCTGCACTCGCGTGG	0.602																																						ENST00000561463.1																			0																																																			0							g.chr15:102296140C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102296140C>T														0	4186	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	3	0	0	0	1	0	4	3				
PLAC1	10761	broad.mit.edu	37	X	133700185	133700185	+	Silent	SNP	G	G	T			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chrX:133700185G>T	ENST00000359237.4	-	3	813	c.528C>A	c.(526-528)gtC>gtA	p.V176V	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GGTGACAAGGGACCTGGGTAT	0.488																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(526-528)gtC>gtA		placenta-specific 1							153.0	125.0	134.0					X																	133700185		2203	4300	6503	SO:0001819	synonymous_variant	10761				placenta development	extracellular region		g.chrX:133700185G>T	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.528C>A	X.37:g.133700185G>T						PLAC1_ENST00000476971.1_5'UTR	p.V176V	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN			3	813	-	Acute lymphoblastic leukemia(192;0.000127)		176						Silent	SNP	ENST00000359237.4	37	c.528C>A	CCDS14642.1																																																																																				0.488	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		5	95	1	0	5.9392e-07	1	6.144e-07	5	95				
SMARCA4	6597	broad.mit.edu	37	19	11132573	11132573	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr19:11132573C>T	ENST00000429416.3	+	20	3070	c.2789C>T	c.(2788-2790)cCc>cTc	p.P930L	SMARCA4_ENST00000590574.1_Missense_Mutation_p.P930L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P930L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P930L|SMARCA4_ENST00000358026.2_Missense_Mutation_p.P930L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P930L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P930L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	930	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTCCTGCTGCCCACCATCTTC	0.612			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2788-2790)cCc>cTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							94.0	75.0	81.0					19																	11132573		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11132573C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2789C>T	19.37:g.11132573C>T	ENSP00000395654:p.Pro930Leu					SMARCA4_ENST00000590574.1_Missense_Mutation_p.P930L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P930L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P930L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P930L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P930L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P930L	p.P930L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			19	3073	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	930			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2789C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.934913	0.92458	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.94723	-3.5;-3.5;-3.5;-3.5;-3.5;-3.5;-3.5	4.51	4.51	0.55191	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97977	0.9334	H	0.94542	3.55	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99208	1.0875	10	0.87932	D	0	-34.3638	16.1519	0.81629	0.0:1.0:0.0:0.0	.	930;930;930;930;930;150;930;930	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	L	930;930;994;930;930;930;930;930	ENSP00000395654:P930L;ENSP00000350720:P930L;ENSP00000343896:P930L;ENSP00000445036:P930L;ENSP00000392837:P930L;ENSP00000397783:P930L;ENSP00000414727:P930L	ENSP00000343896:P930L	P	+	2	0	SMARCA4	10993573	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.651000	0.83577	2.348000	0.79779	0.655000	0.94253	CCC		0.612	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		3	46	0	0	0	1	0	3	46				
ENPEP	2028	broad.mit.edu	37	4	111434693	111434693	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr4:111434693A>G	ENST00000265162.5	+	7	1773	c.1431A>G	c.(1429-1431)atA>atG	p.I477M	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	477					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TTGATGGAATATCCTATAGCA	0.353																																						ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1429-1431)atA>atG		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						167.0	157.0	161.0					4																	111434693		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111434693A>G	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1431A>G	4.37:g.111434693A>G	ENSP00000265162:p.Ile477Met					RP11-380D23.1_ENST00000503998.1_RNA	p.I477M	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	7	1773	+		Hepatocellular(203;0.217)	477					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1431A>G	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240668	0.58995	.	.	ENSG00000138792	ENST00000265162	T	0.03441	3.93	5.29	-0.595	0.11660	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25344	0.0616	H	0.98256	4.185	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	T	0.14643	-1.0465	10	0.87932	D	0	.	9.2904	0.37782	0.3843:0.4856:0.0:0.1301	.	477	Q07075	AMPE_HUMAN	M	477	ENSP00000265162:I477M	ENSP00000265162:I477M	I	+	3	3	ENPEP	111654142	0.972000	0.33761	0.991000	0.47740	0.888000	0.51559	0.215000	0.17562	-0.213000	0.10094	0.528000	0.53228	ATA		0.353	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			45	56	0	0	0	1	0	45	56				
DTYMK	1841	broad.mit.edu	37	2	242617953	242617953	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr2:242617953G>T	ENST00000305784.2	-	4	649	c.442C>A	c.(442-444)Cat>Aat	p.H148N		NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN	deoxythymidylate kinase (thymidylate kinase)	148					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|cellular response to growth factor stimulus (GO:0071363)|dTDP biosynthetic process (GO:0006233)|dTTP biosynthetic process (GO:0006235)|myoblast differentiation (GO:0045445)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside monophosphate phosphorylation (GO:0046940)|nucleotide phosphorylation (GO:0046939)|response to cadmium ion (GO:0046686)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|nucleoside phosphate kinase activity (GO:0050145)|thymidylate kinase activity (GO:0004798)			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TAGCGCTCATGGCCAAACGCT	0.577																																						ENST00000305784.2																			0				NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(442-444)Cat>Aat		deoxythymidylate kinase (thymidylate kinase)							78.0	83.0	81.0					2																	242617953		2203	4296	6499	SO:0001583	missense	1841				cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity	g.chr2:242617953G>T	X54729	CCDS2552.1	2q37	2008-02-05			ENSG00000168393	ENSG00000168393	2.7.4.9		3061	protein-coding gene	gene with protein product	"""dTMP kinase"", ""thymidylate (dTMP) kinase"""	188345				2017365, 8024690	Standard	NM_001165031		Approved	CDC8, TYMK, TMPK	uc002wbz.2	P23919	OTTHUMG00000133409	ENST00000305784.2:c.442C>A	2.37:g.242617953G>T	ENSP00000304802:p.His148Asn						p.H148N	NM_001165031.1|NM_012145.3	NP_001158503.1|NP_036277.2	P23919	KTHY_HUMAN		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	4	649	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	148					B7ZW70|Q6FGX1|Q9BUX4	Missense_Mutation	SNP	ENST00000305784.2	37	c.442C>A	CCDS2552.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.848|0.848	-0.739486|-0.739486	0.03088|0.03088	.|.	.|.	ENSG00000168393|ENSG00000168393	ENST00000305784|ENST00000445261	D|.	0.93712|.	-3.27|.	5.05|5.05	0.398|0.398	0.16319|0.16319	.|.	2.235980|.	0.01400|.	N|.	0.013568|.	T|T	0.07279|0.07279	0.0184|0.0184	N|N	0.00879|0.00879	-1.12|-1.12	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.35001|0.35001	-0.9806|-0.9806	10|5	0.17832|.	T|.	0.49|.	0.5628|0.5628	2.0592|2.0592	0.03588|0.03588	0.2377:0.0933:0.4507:0.2183|0.2377:0.0933:0.4507:0.2183	.|.	124;148|.	B7ZW70;P23919|.	.;KTHY_HUMAN|.	N|Q	148|105	ENSP00000304802:H148N|.	ENSP00000304802:H148N|.	H|P	-|-	1|2	0|0	DTYMK|DTYMK	242266626|242266626	0.003000|0.003000	0.15002|0.15002	0.019000|0.019000	0.16419|0.16419	0.006000|0.006000	0.05464|0.05464	0.202000|0.202000	0.17295|0.17295	0.243000|0.243000	0.21327|0.21327	-0.136000|-0.136000	0.14681|0.14681	CAT|CCA		0.577	DTYMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257266.2	NM_012145		33	45	1	0	4.62619e-21	1	5.14021e-21	33	45				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	51	0	0	0	1	0	4	51				
TRIM43	129868	broad.mit.edu	37	2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	rs201221399		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398																																						ENST00000272395.2																			2	Substitution - Missense(2)	p.G162R(2)	lung(2)	breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(484-486)Gga>Aga		tripartite motif containing 43							71.0	67.0	68.0					2																	96260870		2203	4300	6503	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96260870G>A	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.484G>A	2.37:g.96260870G>A	ENSP00000272395:p.Gly162Arg						p.G162R	NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN			3	620	+			162					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.484G>A	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.704919	0.00719	.	.	ENSG00000144015	ENST00000272395	T	0.04603	3.59	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	9	0.08381	T	0.77	5.3819	2.9369	0.05817	0.51:0.0:0.285:0.205	.	162	Q96BQ3	TRI43_HUMAN	R	162	ENSP00000272395:G162R	ENSP00000272395:G162R	G	+	1	0	TRIM43	95624597	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.758000	0.01810	-2.941000	0.00297	-2.114000	0.00352	GGA		0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		3	41	0	0	0	1	0	3	41				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		7	117	0	0	0	1	0	7	117				
ADAMTS7	11173	broad.mit.edu	37	15	79059040	79059040	+	Silent	SNP	A	A	G	rs199919711		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr15:79059040A>G	ENST00000388820.4	-	19	3423	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1071N(2)|p.N1071S(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTGGAAATTGATGAAAT	0.617																																						ENST00000388820.4																			4	Substitution - Missense(2)|Substitution - coding silent(2)	p.N1071N(2)|p.N1071S(2)	lung(2)|kidney(2)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3211-3213)aaT>aaC		ADAM metallopeptidase with thrombospondin type 1 motif, 7																																				SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059040A>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3213T>C	15.37:g.79059040A>G							p.N1071N	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3423	-			1071					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.3213T>C	CCDS32303.1																																																																																				0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	44	0	0	0	1	0	3	44				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1				BMS1 pseudogene 20																		CAGACTAAAGGCAAACAAGGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664743G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664743G>A								NR_027293.1						0	924	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	39	0	0	0	1	0	3	39				
NUP43	348995	broad.mit.edu	37	6	150067675	150067675	+	5'UTR	SNP	A	A	G	rs10872646	byFrequency	TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr6:150067675A>G	ENST00000340413.2	-	0	33				NUP43_ENST00000463048.3_Intron|PCMT1_ENST00000367378.1_5'Flank|NUP43_ENST00000367404.4_5'Flank|NUP43_ENST00000367403.3_Missense_Mutation_p.V47A|PCMT1_ENST00000464889.1_5'Flank|PCMT1_ENST00000367384.2_5'Flank|NUP43_ENST00000460354.2_5'Flank	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa						carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		CAAGCACAGTACGCGCCTCTC	0.552											OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2715	0.542133	0.5386	0.6369	5008	,	,		19794	0.8234		0.3579	False		,,,				2504	0.3793					ENST00000367403.3																			0				breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						c.(139-141)gTa>gCa		nucleoporin 43kDa		G		2197,2209	583.4+/-385.8	548,1101,554	45.0	50.0	48.0			2.8	0.1	6	dbSNP_120	48	3122,5478	652.2+/-400.9	556,2010,1734	no	utr-5	NUP43	NM_198887.1		1104,3111,2288	GG,GA,AA		36.3023,49.8638,40.8965			150067675	5319,7687	2203	4300	6503	SO:0001623	5_prime_UTR_variant	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150067675A>G	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.-44T>C	6.37:g.150067675A>G			OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1729	NUP43_ENST00000340413.2_5'UTR|NUP43_ENST00000463048.3_Intron	p.V47A			Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	1	139	-		Ovarian(120;0.0164)	0					B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.140T>C	CCDS5218.1	1214	0.5558608058608059	279	0.5670731707317073	216	0.5966850828729282	457	0.798951048951049	262	0.34564643799472294	G	3.355	-0.131675	0.06753	0.498638	0.363023	ENSG00000120253	ENST00000367403	.	.	.	4.66	2.84	0.33178	.	0.513210	0.16435	N	0.214552	T	0.26085	0.0636	.	.	.	0.58432	P	2.9999999999752447E-6	.	.	.	.	.	.	T	0.09773	-1.0659	5	0.37606	T	0.19	.	6.1042	0.20063	0.1688:0.1537:0.6775:0.0	rs10872646;rs59692899;rs10872646	.	.	.	A	47	.	ENSP00000356373:V47A	V	-	2	0	NUP43	150109368	0.088000	0.21588	0.070000	0.20053	0.002000	0.02628	0.393000	0.20817	0.288000	0.22398	-0.119000	0.15052	GTA		0.552	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887		4	67	0	0	0	1	0	4	67				
ABCD1	215	broad.mit.edu	37	X	153001964	153001964	+	Nonsense_Mutation	SNP	C	C	T	rs128624221		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chrX:153001964C>T	ENST00000218104.3	+	4	1789	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	464					alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAAGATCCGAGGTAAGGC	0.657																																						ENST00000218104.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	GRCh37	CM940032	ABCD1	M	rs128624221	c.(1390-1392)Cga>Tga		ATP-binding cassette, sub-family D (ALD), member 1							56.0	57.0	57.0					X																	153001964		2203	4300	6503	SO:0001587	stop_gained	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153001964C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1390C>T	X.37:g.153001964C>T	ENSP00000218104:p.Arg464*					U52111.14_ENST00000434284.1_RNA	p.R464*	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN			4	1789	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		464					Q6GTZ2	Nonsense_Mutation	SNP	ENST00000218104.3	37	c.1390C>T	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	c	13.30	2.195624	0.38806	.	.	ENSG00000101986	ENST00000218104	.	.	.	4.71	2.59	0.31030	.	1.036020	0.07729	N	0.944931	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.1432	10.1308	0.42678	0.6226:0.3774:0.0:0.0	.	.	.	.	X	464	.	ENSP00000218104:R464X	R	+	1	2	ABCD1	152655158	0.071000	0.21146	0.858000	0.33744	0.029000	0.11900	2.308000	0.43690	0.914000	0.36822	-0.260000	0.10688	CGA		0.657	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033		3	20	0	0	0	1	0	3	20				
SPTBN1	6711	broad.mit.edu	37	2	54856728	54856728	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr2:54856728C>A	ENST00000356805.4	+	14	2738	c.2457C>A	c.(2455-2457)gaC>gaA	p.D819E	SPTBN1_ENST00000333896.5_Missense_Mutation_p.D806E	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	819					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGTCTCCAGACGTGAGGGGCA	0.637																																						ENST00000333896.5																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(2416-2418)gaC>gaA		spectrin, beta, non-erythrocytic 1							51.0	51.0	51.0					2																	54856728		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54856728C>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2457C>A	2.37:g.54856728C>A	ENSP00000349259:p.Asp819Glu					SPTBN1_ENST00000356805.4_Missense_Mutation_p.D819E	p.D806E	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		13	2803	+			819					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.2418C>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	8.723	0.914892	0.17907	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.46451	0.87;0.87	5.78	-6.81	0.01704	.	0.291934	0.38272	N	0.001755	T	0.12263	0.0298	N	0.03608	-0.345	0.41484	D	0.988182	B;B	0.02656	0.0;0.0	B;B	0.14578	0.006;0.011	T	0.28170	-1.0052	10	0.08599	T	0.76	.	8.2631	0.31797	0.0:0.4587:0.2221:0.3193	.	806;819	Q01082-3;Q01082	.;SPTB2_HUMAN	E	819;806	ENSP00000349259:D819E;ENSP00000334156:D806E	ENSP00000334156:D806E	D	+	3	2	SPTBN1	54710232	0.049000	0.20398	0.218000	0.23776	0.966000	0.64601	-0.935000	0.03950	-1.268000	0.02439	0.655000	0.94253	GAC		0.637	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			28	45	1	0	2.79863e-10	1	2.99853e-10	28	45				
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr15:79059041T>C	ENST00000388820.4	-	19	3422	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1071S(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCGTGGAAATTGATGAAATT	0.617																																						ENST00000388820.4																			4	Substitution - Missense(4)	p.N1071S(4)	lung(2)|kidney(2)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3211-3213)aAt>aGt		ADAM metallopeptidase with thrombospondin type 1 motif, 7																																				SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059041T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3212A>G	15.37:g.79059041T>C	ENSP00000373472:p.Asn1071Ser						p.N1071S	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3422	-			1071					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.3212A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	t	16.38	3.107658	0.56291	.	.	ENSG00000136378	ENST00000388820	T	0.61742	0.08	4.66	2.13	0.27403	.	0.056036	0.64402	D	0.000002	T	0.59252	0.2180	M	0.76002	2.32	0.35198	D	0.774007	P	0.48503	0.911	P	0.46144	0.505	T	0.66571	-0.5890	10	0.41790	T	0.15	.	10.1871	0.43004	0.0:0.0:0.3202:0.6798	.	1071	Q9UKP4	ATS7_HUMAN	S	1071	ENSP00000373472:N1071S	ENSP00000373472:N1071S	N	-	2	0	ADAMTS7	76846096	1.000000	0.71417	0.986000	0.45419	0.484000	0.33280	3.143000	0.50608	0.107000	0.17824	0.367000	0.22151	AAT		0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	43	0	0	0	1	0	3	43				
TNFRSF8	943	broad.mit.edu	37	1	12170177	12170177	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr1:12170177A>C	ENST00000263932.2	+	6	814	c.592A>C	c.(592-594)Acc>Ccc	p.T198P	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.T87P	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	198					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	AAGAGGGGGCACCCGCCTCGC	0.617																																						ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(592-594)Acc>Ccc		tumor necrosis factor receptor superfamily, member 8							50.0	48.0	49.0					1																	12170177		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12170177A>C	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.592A>C	1.37:g.12170177A>C	ENSP00000263932:p.Thr198Pro					TNFRSF8_ENST00000417814.2_Missense_Mutation_p.T87P	p.T198P	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	6	814	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	198					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.592A>C	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	9.449	1.090127	0.20390	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.07114	3.22;3.22	3.76	-6.84	0.01687	.	.	.	.	.	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.12837	0.008;0.002	T	0.45011	-0.9290	9	0.22706	T	0.39	-1.904	8.8135	0.34983	0.2837:0.153:0.5633:0.0	.	87;198	D3YTD8;P28908	.;TNR8_HUMAN	P	198;87	ENSP00000263932:T198P;ENSP00000390650:T87P	ENSP00000263932:T198P	T	+	1	0	TNFRSF8	12092764	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.401000	0.07232	-1.506000	0.01805	-1.039000	0.02377	ACC		0.617	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			7	39	0	0	0	1	0	7	39				
ZNF600	162966	broad.mit.edu	37	19	53269533	53269533	+	Silent	SNP	A	A	G	rs149684999		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr19:53269533A>G	ENST00000338230.3	-	3	1743	c.1476T>C	c.(1474-1476)caT>caC	p.H492H		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTCTCCACTATGAATTCTAG	0.423																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1474-1476)caT>caC		zinc finger protein 600		A		0,4406		0,0,2203	153.0	150.0	151.0		1476	0.3	0.1	19	dbSNP_134	151	2,8594		0,2,4296	no	coding-synonymous	ZNF600	NM_198457.2		0,2,6499	GG,GA,AA		0.0233,0.0,0.0154		492/723	53269533	2,13000	2203	4298	6501	SO:0001819	synonymous_variant	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53269533A>G	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1476T>C	19.37:g.53269533A>G							p.H492H	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	1743	-			492					Q6MZR0	Silent	SNP	ENST00000338230.3	37	c.1476T>C	CCDS12856.1																																																																																				0.423	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		8	184	0	0	0	1	0	8	184				
GLOD4	51031	broad.mit.edu	37	17	679033	679033	+	Missense_Mutation	SNP	G	G	A	rs529543488		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr17:679033G>A	ENST00000301328.5	-	5	456	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	GLOD4_ENST00000301329.6_Missense_Mutation_p.R130C|GLOD4_ENST00000536578.1_Missense_Mutation_p.R121C			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	145						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGCAGACTGCGATTCTGCAAA	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17433	0.0		0.0	False		,,,				2504	0.0					ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(388-390)Cgc>Tgc		glyoxalase domain containing 4							86.0	84.0	85.0					17																	679033		2203	4300	6503	SO:0001583	missense	51031					mitochondrion		g.chr17:679033G>A	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.433C>T	17.37:g.679033G>A	ENSP00000301328:p.Arg145Cys					GLOD4_ENST00000301328.5_Missense_Mutation_p.R145C|GLOD4_ENST00000536578.1_Missense_Mutation_p.R121C	p.R130C	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	4	473	-			145					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Missense_Mutation	SNP	ENST00000301328.5	37	c.388C>T		.	.	.	.	.	.	.	.	.	.	G	10.46	1.357764	0.24598	.	.	ENSG00000167699	ENST00000301329;ENST00000397393;ENST00000301328;ENST00000536578	T;T;T	0.65916	-0.18;-0.18;-0.18	5.65	-5.23	0.02798	.	1.289890	0.04827	N	0.437987	T	0.47600	0.1454	L	0.49699	1.58	0.09310	N	0.99999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.33777	-0.9855	10	0.41790	T	0.15	1.446	1.0795	0.01640	0.3495:0.0901:0.2416:0.3188	.	121;145;130	B7Z403;Q9HC38;Q9HC38-2	.;GLOD4_HUMAN;.	C	130;333;145;121	ENSP00000301329:R130C;ENSP00000301328:R145C;ENSP00000444315:R121C	ENSP00000301328:R145C	R	-	1	0	GLOD4	625783	0.004000	0.15560	0.001000	0.08648	0.071000	0.16799	0.103000	0.15292	-0.419000	0.07439	-0.808000	0.03180	CGC		0.483	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		22	62	0	0	0	1	0	22	62				
UBE2O	63893	broad.mit.edu	37	17	74392381	74392381	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr17:74392381C>T	ENST00000319380.7	-	14	2701	c.2637G>A	c.(2635-2637)atG>atA	p.M879I	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	879					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCACTGCTTCCATCTTCTCCT	0.562																																						ENST00000319380.7																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(2635-2637)atG>atA		ubiquitin-conjugating enzyme E2O							167.0	170.0	169.0					17																	74392381		2203	4300	6503	SO:0001583	missense	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392381C>T	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2637G>A	17.37:g.74392381C>T	ENSP00000323687:p.Met879Ile						p.M879I	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN			14	2701	-			879					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	ENST00000319380.7	37	c.2637G>A	CCDS32742.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950186	0.34377	.	.	ENSG00000175931	ENST00000319380	T	0.75367	-0.93	5.03	5.03	0.67393	.	0.096367	0.64402	D	0.000002	T	0.63082	0.2481	N	0.24115	0.695	0.58432	D	0.999996	P	0.47409	0.895	B	0.41236	0.351	T	0.62296	-0.6884	10	0.21014	T	0.42	-36.3148	18.3805	0.90449	0.0:1.0:0.0:0.0	.	879	Q9C0C9	UBE2O_HUMAN	I	879	ENSP00000323687:M879I	ENSP00000323687:M879I	M	-	3	0	UBE2O	71903976	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	7.570000	0.82390	2.325000	0.78763	0.563000	0.77884	ATG		0.562	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		15	190	0	0	0	1	0	15	190				
POM121C	100101267	broad.mit.edu	37	7	75044431	75044431	+	IGR	SNP	C	C	T	rs236650	byFrequency	TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr7:75044431C>T	ENST00000257665.5	-	0	5700				NSUN5P1_ENST00000393633.2_RNA			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C						mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GCTGGACCCCCGCCAGGCTCC	0.632													.|||	1628	0.32508	0.7042	0.2133	5008	,	,		14576	0.0694		0.2058	False		,,,				2504	0.2781					ENST00000393633.2																			0				large_intestine(1)|lung(1)	2																																												SO:0001628	intergenic_variant	0							g.chr7:75044431C>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238		7.37:g.75044431C>T														0	3599	+								O75115|Q9Y2N3|Q9Y4S7	RNA	SNP	ENST00000257665.5	37																																																																																						0.632	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		4	32	0	0	0	1	0	4	32				
ATXN1	6310	broad.mit.edu	37	6	16327912	16327912	+	Missense_Mutation	SNP	C	C	A	rs369629396|rs368218879		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr6:16327912C>A	ENST00000244769.4	-	8	1566	c.630G>T	c.(628-630)caG>caT	p.Q210H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q210H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	210	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.H209_H211delHQH(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgatgctgatgctgct	0.667																																						ENST00000244769.4																			1	Deletion - In frame(1)	p.H209_H211delHQH(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(628-630)caG>caT		ataxin 1							5.0	8.0	7.0					6																	16327912		1576	3508	5084	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327912C>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.630G>T	6.37:g.16327912C>A	ENSP00000244769:p.Gln210His					ATXN1_ENST00000436367.1_Missense_Mutation_p.Q210H	p.Q210H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1566	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	210			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.630G>T	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	4.990	0.183769	0.09495	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.50001	0.76;0.76	.	.	.	.	.	.	.	.	T	0.07413	0.0187	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.37709	-0.9694	5	0.15952	T	0.53	.	.	.	.	.	210	P54253	ATX1_HUMAN	H	210	ENSP00000244769:Q210H;ENSP00000416360:Q210H	ENSP00000244769:Q210H	Q	-	3	2	ATXN1	16435891	0.501000	0.26099	0.020000	0.16555	0.059000	0.15707	0.066000	0.14489	0.000000	0.14550	0.000000	0.15137	CAG		0.667	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		4	12	1	0	2.56e-06	1	2.56e-06	4	12				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	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		35	47	0	0	0	1	0	35	47				
RPS6KB2	6199	broad.mit.edu	37	11	67201890	67201890	+	Missense_Mutation	SNP	C	C	T	rs375350949		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr11:67201890C>T	ENST00000312629.5	+	13	1135	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	364	AGC-kinase C-terminal.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCGCTTCACACGGCAGACGCC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		18829	0.0		0.0	False		,,,				2504	0.001					ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(1090-1092)Cgg>Tgg		ribosomal protein S6 kinase, 70kDa, polypeptide 2		C	TRP/ARG	0,4142		0,0,2071	37.0	42.0	40.0		1090	1.2	0.7	11		40	1,8391		0,1,4195	no	missense	RPS6KB2	NM_003952.2	101	0,1,6266	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	364/483	67201890	1,12533	2071	4196	6267	SO:0001583	missense	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67201890C>T	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.1090C>T	11.37:g.67201890C>T	ENSP00000308413:p.Arg364Trp					AP003419.16_ENST00000535922.1_RNA	p.R364W	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		13	1135	+			364			AGC-kinase C-terminal.		B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	c.1090C>T	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500606	0.44455	0.0	1.19E-4	ENSG00000175634	ENST00000312629	T	0.58210	0.35	4.5	1.24	0.21308	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.306061	0.23502	N	0.047488	T	0.71324	0.3326	M	0.88842	2.985	0.23464	N	0.997621	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.948	T	0.61530	-0.7044	10	0.72032	D	0.01	.	8.9786	0.35950	0.2834:0.636:0.0:0.0806	.	364;364	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	W	364	ENSP00000308413:R364W	ENSP00000308413:R364W	R	+	1	2	RPS6KB2	66958466	0.609000	0.26975	0.662000	0.29724	0.419000	0.31324	1.885000	0.39678	0.501000	0.28013	0.313000	0.20887	CGG		0.642	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		5	51	0	0	0	1	0	5	51				
MAP7D1	55700	broad.mit.edu	37	1	36643701	36643703	+	In_Frame_Del	DEL	AGA	AGA	-	rs3045695|rs141305015|rs200892098	byFrequency	TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr1:36643701_36643703delAGA	ENST00000373151.2	+	9	1823_1825	c.1607_1609delAGA	c.(1606-1611)gagaag>gag	p.K537del	MAP7D1_ENST00000373150.4_In_Frame_Del_p.K505del|MAP7D1_ENST00000373148.4_In_Frame_Del_p.K83del|MAP7D1_ENST00000316156.4_In_Frame_Del_p.K500del	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	537	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCAGTAACGAGAAGGAGTCAGC	0.719														323	0.0644968	0.003	0.0836	5008	,	,		9186	0.1964		0.0497	False		,,,				2504	0.0133					ENST00000316156.4																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19						c.(1495-1500)gag>g		MAP7 domain containing 1				72,4170		17,38,2066						4.1	0.8		dbSNP_102	30	425,7795		48,329,3733	no	coding	MAP7D1	NM_018067.3		65,367,5799	A1A1,A1R,RR		5.1703,1.6973,3.9881				497,11965				SO:0001651	inframe_deletion	55700					cytoplasm|spindle		g.chr1:36643701_36643703delAGA	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1607_1609delAGA	1.37:g.36643701_36643703delAGA	ENSP00000362244:p.Lys537del					MAP7D1_ENST00000373148.4_In_Frame_Del_p.EK82del|MAP7D1_ENST00000373150.4_In_Frame_Del_p.EK504del|MAP7D1_ENST00000373151.2_In_Frame_Del_p.EK536del	p.EK499del			Q3KQU3	MA7D1_HUMAN			8	1949_1951	+		Myeloproliferative disorder(586;0.0393)	536			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	In_Frame_Del	DEL	ENST00000373151.2	37	c.1496_1498delAGA	CCDS30673.1																																																																																				0.719	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1	NM_018067		3	5						3	5	---	---	---	---
C16orf90	646174	broad.mit.edu	37	16	3546140	3546141	+	5'Flank	INS	-	-	A	rs200618809|rs74546027		TCGA-DJ-A2PU-01A-12D-A19J-08	TCGA-DJ-A2PU-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9251e90-066c-450b-8602-229b9417cb03	5cb6c4e0-c69f-4257-8b0c-9f4e56e0d955	g.chr16:3546140_3546141insA	ENST00000437192.3	-	0	0				LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90											large_intestine(1)	1						gactccgtctcaaaaaaaaaaa	0.559																																						ENST00000574423.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:3546140_3546141insA		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627		16.37:g.3546151_3546151dupA	Exception_encountered													0	111	+									RNA	INS	ENST00000437192.3	37		CCDS45397.1																																																																																				0.559	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		2	4						2	4	---	---	---	---
