#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
ABL2	27	broad.mit.edu	37	1	179090742	179090742	+	Silent	SNP	C	C	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:179090742C>T	ENST00000502732.1	-	5	1151	c.948G>A	c.(946-948)gtG>gtA	p.V316V	ABL2_ENST00000507173.1_Silent_p.V295V|ABL2_ENST00000408940.3_Silent_p.V280V|ABL2_ENST00000367623.4_Silent_p.V295V|ABL2_ENST00000392043.3_Silent_p.V295V|ABL2_ENST00000512653.1_Silent_p.V301V|ABL2_ENST00000511413.1_Silent_p.V316V|ABL2_ENST00000504405.1_Silent_p.V280V|ABL2_ENST00000344730.3_Silent_p.V301V	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	316	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCAATGTTTTCACAGCAACTG	0.428			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(946-948)gtG>gtA		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						192.0	184.0	187.0					1																	179090742		2203	4300	6503	SO:0001819	synonymous_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179090742C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.948G>A	1.37:g.179090742C>T						ABL2_ENST00000344730.3_Silent_p.V301V|ABL2_ENST00000507173.1_Silent_p.V295V|ABL2_ENST00000408940.3_Silent_p.V280V|ABL2_ENST00000511413.1_Silent_p.V316V|ABL2_ENST00000367623.4_Silent_p.V295V|ABL2_ENST00000504405.1_Silent_p.V280V|ABL2_ENST00000512653.1_Silent_p.V301V|ABL2_ENST00000392043.3_Silent_p.V295V	p.V316V	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			5	1151	-			316			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.948G>A	CCDS30947.1																																																																																				0.428	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		9	232	0	0	0	0.006214	0	9	232				
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T	rs191279075	byFrequency	TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	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		7	2	0	0	0	0.004482	0	7	2				
FLII	2314	broad.mit.edu	37	17	18149316	18149316	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:18149316C>T	ENST00000327031.4	-	26	3553	c.3328G>A	c.(3328-3330)Gac>Aac	p.D1110N	FLII_ENST00000578558.1_Intron|FLII_ENST00000579294.1_Missense_Mutation_p.D1099N|FLII_ENST00000545457.2_Missense_Mutation_p.D1055N|FLII_ENST00000379450.4_Missense_Mutation_p.D1024N	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1110					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCGTCAGGGTCTGATGCCCGG	0.617																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(3328-3330)Gac>Aac		flightless I homolog (Drosophila)							88.0	80.0	83.0					17																	18149316		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18149316C>T	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3328G>A	17.37:g.18149316C>T	ENSP00000324573:p.Asp1110Asn					FLII_ENST00000579294.1_Missense_Mutation_p.D1099N|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.D1024N|FLII_ENST00000545457.2_Missense_Mutation_p.D1055N	p.D1110N	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			26	3553	-	all_neural(463;0.228)		1110					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3328G>A	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.610013	0.66558	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.20069	2.1;2.1	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	L	0.42686	1.345	0.80722	D	1	B;B;B;B	0.28783	0.206;0.206;0.024;0.222	B;B;B;B	0.38428	0.043;0.043;0.015;0.273	T	0.02713	-1.1120	10	0.28530	T	0.3	-37.4009	19.7945	0.96474	0.0:1.0:0.0:0.0	.	1024;1024;1110;1079	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	N	1110;989;1024	ENSP00000324573:D1110N;ENSP00000368763:D1024N	ENSP00000324573:D1110N	D	-	1	0	FLII	18090041	1.000000	0.71417	0.957000	0.39632	0.995000	0.86356	7.090000	0.76916	2.690000	0.91761	0.655000	0.94253	GAC		0.617	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		21	43	0	0	0	0.002780	0	21	43				
GABRD	2563	broad.mit.edu	37	1	1961681	1961681	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:1961681C>T	ENST00000378585.4	+	9	1402	c.1319C>T	c.(1318-1320)gCg>gTg	p.A440V		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	440					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A440V(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCGGCGTTTGCGGCCGTCAAT	0.662																																						ENST00000378585.4																			1	Substitution - Missense(1)	p.A440V(1)	kidney(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(1318-1320)gCg>gTg		gamma-aminobutyric acid (GABA) A receptor, delta							53.0	53.0	53.0					1																	1961681		2202	4296	6498	SO:0001583	missense	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1961681C>T	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.1319C>T	1.37:g.1961681C>T	ENSP00000367848:p.Ala440Val						p.A440V	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	9	1402	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	440					Q8N4N9	Missense_Mutation	SNP	ENST00000378585.4	37	c.1319C>T	CCDS36.1	.	.	.	.	.	.	.	.	.	.	C	1.893	-0.455093	0.04540	.	.	ENSG00000187730	ENST00000378585	D	0.83163	-1.69	3.84	2.88	0.33553	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.063694	0.64402	N	0.000006	T	0.69477	0.3115	L	0.28344	0.845	0.47341	D	0.999398	B	0.19445	0.036	B	0.10450	0.005	T	0.60016	-0.7345	10	0.19590	T	0.45	-20.44	10.0033	0.41942	0.0:0.8941:0.0:0.1059	.	440	O14764	GBRD_HUMAN	V	440	ENSP00000367848:A440V	ENSP00000367848:A440V	A	+	2	0	GABRD	1951541	0.777000	0.28628	0.016000	0.15963	0.010000	0.07245	1.499000	0.35671	0.907000	0.36646	0.313000	0.20887	GCG		0.662	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		4	103	0	0	0	0.000602	0	4	103				
ADAM29	11086	broad.mit.edu	37	4	175897117	175897117	+	Silent	SNP	T	T	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr4:175897117T>C	ENST00000359240.3	+	5	1111	c.441T>C	c.(439-441)caT>caC	p.H147H	ADAM29_ENST00000404450.4_Silent_p.H147H|ADAM29_ENST00000514159.1_Silent_p.H147H|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Silent_p.H147H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	147					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CGTTTGAACATCTGGTATACA	0.368																																					Ovarian(140;1727 1835 21805 25838 41440)	ENST00000359240.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93						c.(439-441)caT>caC		ADAM metallopeptidase domain 29							83.0	86.0	85.0					4																	175897117		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897117T>C	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.441T>C	4.37:g.175897117T>C						ADAM29_ENST00000514159.1_Silent_p.H147H|ADAM29_ENST00000445694.1_Silent_p.H147H|ADAM29_ENST00000404450.4_Silent_p.H147H	p.H147H	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1111	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	147					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.441T>C	CCDS3823.1																																																																																				0.368	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				46	78	0	0	0	0.002852	0	46	78				
USP9Y	8287	broad.mit.edu	37	Y	14924964	14924964	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chrY:14924964A>C	ENST00000338981.3	+	31	5531	c.4586A>C	c.(4585-4587)tAt>tCt	p.Y1529S	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1529					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACTGAAATGTATTACATGGGC	0.333																																						ENST00000338981.3																			0				kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(4585-4587)tAt>tCt		ubiquitin specific peptidase 9, Y-linked							51.0	47.0	48.0					Y																	14924964		599	1931	2530	SO:0001583	missense	8287				BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrY:14924964A>C	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.4586A>C	Y.37:g.14924964A>C	ENSP00000342812:p.Tyr1529Ser					USP9Y_ENST00000426564.2_3'UTR	p.Y1529S	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN			31	5531	+			1529					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.4586A>C	CCDS14781.1																																																																																				0.333	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654		29	8	0	0	0	0.008361	0	29	8				
PRDM2	7799	broad.mit.edu	37	1	14075951	14075951	+	Silent	SNP	G	G	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:14075951G>C	ENST00000235372.7	+	6	1336	c.480G>C	c.(478-480)cgG>cgC	p.R160R	PRDM2_ENST00000505823.1_5'UTR|PRDM2_ENST00000413440.1_5'UTR|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000311066.5_Silent_p.R160R|PRDM2_ENST00000376048.5_Silent_p.R160R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCAGCGCCCGGAGCAAGCGGA	0.726																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(478-480)cgG>cgC		PR domain containing 2, with ZNF domain							14.0	17.0	16.0					1																	14075951		2195	4283	6478	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14075951G>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.480G>C	1.37:g.14075951G>C						PRDM2_ENST00000343137.4_5'UTR|PRDM2_ENST00000311066.5_Silent_p.R160R|PRDM2_ENST00000413440.1_5'UTR|PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Silent_p.R160R|PRDM2_ENST00000503842.1_5'UTR|PRDM2_ENST00000505823.1_5'UTR	p.R160R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	6	1336	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	160					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.480G>C	CCDS150.1																																																																																				0.726	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		13	6	0	0	0	0.001368	0	13	6				
CLIP2	7461	broad.mit.edu	37	7	73731926	73731926	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:73731926C>G	ENST00000395060.1	+	1	50	c.50C>G	c.(49-51)tCc>tGc	p.S17C	CLIP2_ENST00000223398.6_Missense_Mutation_p.S17C|CLIP2_ENST00000361545.5_Missense_Mutation_p.S17C			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	17						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGAAGCACTCCAGCCCCATG	0.672																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(49-51)tCc>tGc		CAP-GLY domain containing linker protein 2							56.0	61.0	59.0					7																	73731926		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73731926C>G	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.50C>G	7.37:g.73731926C>G	ENSP00000378500:p.Ser17Cys					CLIP2_ENST00000395060.1_Missense_Mutation_p.S17C|CLIP2_ENST00000361545.5_Missense_Mutation_p.S17C	p.S17C	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			2	377	+			17					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.50C>G	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677258	0.68042	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.60920	0.15;0.2;0.15	4.52	4.52	0.55395	.	0.149197	0.45606	D	0.000358	T	0.61887	0.2383	L	0.27053	0.805	0.38517	D	0.948633	D;D	0.76494	0.999;0.999	D;P	0.66847	0.947;0.862	T	0.68221	-0.5466	10	0.87932	D	0	-15.5974	12.629	0.56646	0.0:1.0:0.0:0.0	.	17;17	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	C	17	ENSP00000223398:S17C;ENSP00000355151:S17C;ENSP00000378500:S17C	ENSP00000223398:S17C	S	+	2	0	CLIP2	73369862	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	3.665000	0.54532	2.340000	0.79590	0.561000	0.74099	TCC		0.672	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		65	80	0	0	0	0.003610	0	65	80				
ARHGEF15	22899	broad.mit.edu	37	17	8218800	8218800	+	Silent	SNP	C	C	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:8218800C>T	ENST00000361926.3	+	7	1439	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Silent_p.F443F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	443	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCGACACCTTCGTGCTGAGCC	0.617																																						ENST00000361926.3																			0				breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1327-1329)ttC>ttT		Rho guanine nucleotide exchange factor (GEF) 15							117.0	105.0	109.0					17																	8218800		2203	4300	6503	SO:0001819	synonymous_variant	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8218800C>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1329C>T	17.37:g.8218800C>T						ARHGEF15_ENST00000421050.1_Silent_p.F443F	p.F443F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			7	1439	+			443			DH.		A8K6G1|Q8N449|Q9H8B4	Silent	SNP	ENST00000361926.3	37	c.1329C>T	CCDS11139.1																																																																																				0.617	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		50	127	0	0	0	0.003610	0	50	127				
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs576887296|rs398124272	byFrequency	TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37.0	35.0	35.0					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	35	0	0	0	0.004672	0	3	35				
DNAH9	1770	broad.mit.edu	37	17	11757354	11757354	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:11757354C>T	ENST00000262442.4	+	50	9610	c.9542C>T	c.(9541-9543)cCg>cTg	p.P3181L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3181L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3181	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P3181Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGGCTCTCCGCCTCTGGCC	0.572																																						ENST00000262442.3																			1	Substitution - Missense(1)	p.P3181Q(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9541-9543)cCg>cTg		dynein, axonemal, heavy chain 9							81.0	80.0	80.0					17																	11757354		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11757354C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9542C>T	17.37:g.11757354C>T	ENSP00000262442:p.Pro3181Leu					DNAH9_ENST00000454412.2_Missense_Mutation_p.P3181L	p.P3181L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	50	9610	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3181			Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9542C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797725	0.70567	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.81996	-1.56;-1.56	5.49	5.49	0.81192	Dynein heavy chain, coiled coil stalk (1);	0.126189	0.53938	D	0.000054	D	0.95535	0.8549	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97072	0.9778	10	0.87932	D	0	.	19.5721	0.95425	0.0:1.0:0.0:0.0	.	3181	Q9NYC9	DYH9_HUMAN	L	3181;3181;1763	ENSP00000262442:P3181L;ENSP00000414874:P3181L	ENSP00000262442:P3181L	P	+	2	0	DNAH9	11698079	1.000000	0.71417	0.260000	0.24451	0.477000	0.33069	7.278000	0.78587	2.857000	0.98124	0.650000	0.86243	CCG		0.572	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		36	47	0	0	0	0.006230	0	36	47				
DHX8	1659	broad.mit.edu	37	17	41585706	41585706	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:41585706G>A	ENST00000262415.3	+	16	2392		c.e16-1		DHX8_ENST00000540306.1_Splice_Site	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8						ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCTGCTCGTAGGTGATATCCT	0.388																																					NSCLC(56;1548 1661 49258 49987)	ENST00000262415.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.e16-1		DEAH (Asp-Glu-Ala-His) box polypeptide 8							135.0	128.0	130.0					17																	41585706		2203	4300	6503	SO:0001630	splice_region_variant	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41585706G>A	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2321-1G>A	17.37:g.41585706G>A						DHX8_ENST00000540306.1_Splice_Site		NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	16	2392	+		Breast(137;0.00908)							Splice_Site	SNP	ENST00000262415.3	37		CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801881	0.70682	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3255	0.90252	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DHX8	38941232	1.000000	0.71417	0.998000	0.56505	0.827000	0.46813	9.620000	0.98373	2.571000	0.86741	0.561000	0.74099	.		0.388	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		Intron	43	84	0	0	0	0.002852	0	43	84				
SRC	6714	broad.mit.edu	37	20	36031692	36031692	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr20:36031692G>C	ENST00000373578.2	+	14	1870	c.1521G>C	c.(1519-1521)gaG>gaC	p.E507D	SRC_ENST00000477066.1_3'UTR|SRC_ENST00000373567.2_Missense_Mutation_p.E507D|SRC_ENST00000360723.4_Missense_Mutation_p.E513D|SRC_ENST00000373558.2_Missense_Mutation_p.E513D|SRC_ENST00000445403.1_Missense_Mutation_p.E507D|SRC_ENST00000358208.4_Missense_Mutation_p.E507D	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase	507	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	AGGAGCCTGAGGAGCGGCCCA	0.677																																						ENST00000373578.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1519-1521)gaG>gaC		v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog	Dasatinib(DB01254)						48.0	38.0	41.0					20																	36031692		2202	4300	6502	SO:0001583	missense	6714				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity	g.chr20:36031692G>C	AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.1521G>C	20.37:g.36031692G>C	ENSP00000362680:p.Glu507Asp					SRC_ENST00000373567.2_Missense_Mutation_p.E507D|SRC_ENST00000360723.4_Missense_Mutation_p.E513D|SRC_ENST00000445403.1_Missense_Mutation_p.E507D|SRC_ENST00000358208.4_Missense_Mutation_p.E507D|SRC_ENST00000477066.1_3'UTR|SRC_ENST00000373558.2_Missense_Mutation_p.E513D	p.E507D	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN			14	1870	+		Myeloproliferative disorder(115;0.00878)	507			Protein kinase.		E1P5V4|Q76P87|Q86VB9|Q9H5A8	Missense_Mutation	SNP	ENST00000373578.2	37	c.1521G>C	CCDS13294.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884682	0.33255	.	.	ENSG00000197122	ENST00000445403;ENST00000373578;ENST00000360723;ENST00000358208;ENST00000373567;ENST00000373558	D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	4.49	1.45	0.22620	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.75273	0.3827	N	0.04805	-0.155	0.80722	D	1	P	0.45827	0.867	D	0.64144	0.922	T	0.69610	-0.5099	10	0.32370	T	0.25	.	5.5604	0.17140	0.1825:0.0:0.655:0.1625	.	507	P12931	SRC_HUMAN	D	507;507;513;507;507;513	ENSP00000408503:E507D;ENSP00000362680:E507D;ENSP00000353950:E513D;ENSP00000350941:E507D;ENSP00000362668:E507D;ENSP00000362659:E513D	ENSP00000350941:E507D	E	+	3	2	SRC	35465106	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	1.254000	0.32897	0.612000	0.30071	0.561000	0.74099	GAG		0.677	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268142.1	NM_005417		3	15	0	0	0	0.004672	0	3	15				
CIRH1A	84916	broad.mit.edu	37	16	69200994	69200994	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr16:69200994A>G	ENST00000314423.7	+	16	2027	c.1850A>G	c.(1849-1851)aAa>aGa	p.K617R	CIRH1A_ENST00000563094.1_3'UTR|CIRH1A_ENST00000352319.4_Missense_Mutation_p.K502R			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	617					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CCAAATGACAAAACCTTACTC	0.378																																					Melanoma(69;1156 1278 4951 8715 52012)	ENST00000314423.7																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1849-1851)aAa>aGa		cirrhosis, autosomal recessive 1A (cirhin)							120.0	120.0	120.0					16																	69200994		2198	4300	6498	SO:0001583	missense	84916					nucleolus	protein binding	g.chr16:69200994A>G	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1850A>G	16.37:g.69200994A>G	ENSP00000327179:p.Lys617Arg					CIRH1A_ENST00000352319.4_Missense_Mutation_p.K502R|CIRH1A_ENST00000563094.1_3'UTR	p.K617R			Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	16	2027	+			617					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	c.1850A>G	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407630	0.42715	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.38887	1.63;1.11	6.03	4.93	0.64822	.	0.090395	0.85682	N	0.000000	T	0.39911	0.1096	M	0.65975	2.015	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.19192	-1.0313	10	0.26408	T	0.33	.	10.5758	0.45227	0.924:0.0:0.076:0.0	.	617	Q969X6	CIR1A_HUMAN	R	617;502	ENSP00000327179:K617R;ENSP00000339164:K502R	ENSP00000327179:K617R	K	+	2	0	CIRH1A	67758495	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.457000	0.45005	1.090000	0.41315	0.533000	0.62120	AAA		0.378	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		59	70	0	0	0	0.003610	0	59	70				
TMEM176B	28959	broad.mit.edu	37	7	150490266	150490266	+	Silent	SNP	G	G	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:150490266G>C	ENST00000447204.2	-	5	882	c.510C>G	c.(508-510)gtC>gtG	p.V170V	TMEM176B_ENST00000434545.1_Silent_p.V170V|TMEM176B_ENST00000492607.1_Silent_p.V170V|TMEM176B_ENST00000429904.2_Silent_p.V170V|TMEM176B_ENST00000450753.2_Silent_p.V133V|TMEM176B_ENST00000326442.5_Silent_p.V170V	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	170					cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTAGGGAAGACAGGGTCTG	0.507																																						ENST00000447204.2																			0				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19						c.(508-510)gtC>gtG		transmembrane protein 176B							161.0	133.0	143.0					7																	150490266		2203	4300	6503	SO:0001819	synonymous_variant	28959				cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane		g.chr7:150490266G>C	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.510C>G	7.37:g.150490266G>C						TMEM176B_ENST00000434545.1_Silent_p.V170V|TMEM176B_ENST00000429904.2_Silent_p.V170V|TMEM176B_ENST00000326442.5_Silent_p.V170V|TMEM176B_ENST00000492607.1_Silent_p.V170V|TMEM176B_ENST00000450753.2_Silent_p.V133V	p.V170V	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	882	-			170					B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Silent	SNP	ENST00000447204.2	37	c.510C>G	CCDS5908.1																																																																																				0.507	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020		53	69	0	0	0	0.003610	0	53	69				
CYTH1	9267	broad.mit.edu	37	17	76695039	76695039	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:76695039C>T	ENST00000446868.3	-	8	632	c.562G>A	c.(562-564)Gtc>Atc	p.V188I	CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Missense_Mutation_p.V188I|CYTH1_ENST00000585509.1_Missense_Mutation_p.V129I|CYTH1_ENST00000361101.4_Missense_Mutation_p.V188I|CYTH1_ENST00000589297.1_Missense_Mutation_p.V129I|RNU6-638P_ENST00000516582.1_RNA			Q15438	CYH1_HUMAN	cytohesin 1	188	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						AAGGAGAGGACGTAACAAGTA	0.478																																						ENST00000589297.1																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						c.(385-387)Gtc>Atc		cytohesin 1							203.0	197.0	199.0					17																	76695039		2203	4300	6503	SO:0001583	missense	9267				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr17:76695039C>T	M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.562G>A	17.37:g.76695039C>T	ENSP00000389095:p.Val188Ile					CYTH1_ENST00000446868.3_Missense_Mutation_p.V188I|CYTH1_ENST00000591455.1_Missense_Mutation_p.V188I|CYTH1_ENST00000361101.4_Missense_Mutation_p.V188I|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000585509.1_Missense_Mutation_p.V129I	p.V129I			Q15438	CYH1_HUMAN			8	1077	-			188			SEC7.		A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37	c.385G>A		.	.	.	.	.	.	.	.	.	.	C	14.26	2.481344	0.44147	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763;ENST00000392453	T;T	0.52057	0.68;0.68	5.34	5.34	0.76211	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.056226	0.64402	D	0.000001	T	0.34890	0.0913	N	0.22421	0.69	0.49915	D	0.999838	B;B	0.15141	0.012;0.01	B;B	0.23419	0.046;0.044	T	0.12091	-1.0561	10	0.31617	T	0.26	.	12.4059	0.55439	0.0:0.9231:0.0:0.0769	.	188;188	Q15438;Q15438-2	CYH1_HUMAN;.	I	188;188;129;129;188;25	ENSP00000389095:V188I;ENSP00000354398:V188I	ENSP00000262763:V188I	V	-	1	0	CYTH1	74206634	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	3.853000	0.55941	2.475000	0.83589	0.591000	0.81541	GTC		0.478	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762		7	232	0	0	0	0.008291	0	7	232				
MTTP	4547	broad.mit.edu	37	4	100534244	100534244	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr4:100534244G>A	ENST00000265517.5	+	15	2367	c.2164G>A	c.(2164-2166)Ggc>Agc	p.G722S	MTTP_ENST00000511045.1_Missense_Mutation_p.G749S|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.G722S			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	722					cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GTCAGCATCTGGCGACCCTAT	0.423																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(2164-2166)Ggc>Agc		microsomal triglyceride transfer protein	Hesperetin(DB01094)						159.0	140.0	147.0					4																	100534244		2203	4300	6503	SO:0001583	missense	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100534244G>A		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.2164G>A	4.37:g.100534244G>A	ENSP00000265517:p.Gly722Ser					RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.G722S|MTTP_ENST00000511045.1_Missense_Mutation_p.G749S	p.G722S	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	16	2420	+			722					A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	c.2164G>A	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663995	0.47572	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.62105	0.05;0.08;0.08	5.49	-2.31	0.06765	.	0.188909	0.56097	N	0.000030	T	0.54615	0.1869	L	0.57536	1.79	0.52099	D	0.99994	B;B	0.23854	0.092;0.007	B;B	0.21917	0.037;0.017	T	0.43163	-0.9408	10	0.23302	T	0.38	-4.3126	16.8818	0.86065	0.1004:0.0:0.8996:0.0	.	749;722	E9PBP6;P55157	.;MTP_HUMAN	S	749;722;722	ENSP00000427679:G749S;ENSP00000400821:G722S;ENSP00000265517:G722S	ENSP00000265517:G722S	G	+	1	0	MTTP	100753267	1.000000	0.71417	0.005000	0.12908	0.968000	0.65278	1.655000	0.37345	-0.912000	0.03837	0.585000	0.79938	GGC		0.423	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			3	75	0	0	0	0.004672	0	3	75				
KIAA0556	23247	broad.mit.edu	37	16	27763240	27763240	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr16:27763240G>C	ENST00000261588.4	+	17	3566	c.3547G>C	c.(3547-3549)Gaa>Caa	p.E1183Q		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1183						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GGGGGCTGATGAACGGGTAGG	0.612																																						ENST00000261588.4																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(3547-3549)Gaa>Caa		KIAA0556							22.0	24.0	23.0					16																	27763240		2191	4297	6488	SO:0001583	missense	23247							g.chr16:27763240G>C	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3547G>C	16.37:g.27763240G>C	ENSP00000261588:p.Glu1183Gln						p.E1183Q	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN			17	3566	+			1183					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.3547G>C	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	7.603	0.673236	0.14776	.	.	ENSG00000047578	ENST00000261588	T	0.10005	2.92	5.02	5.02	0.67125	.	0.327247	0.31404	N	0.007701	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.33904	-0.9850	10	0.23891	T	0.37	-17.1038	8.2031	0.31436	0.0821:0.0:0.76:0.1579	.	1183	O60303	K0556_HUMAN	Q	1183	ENSP00000261588:E1183Q	ENSP00000261588:E1183Q	E	+	1	0	KIAA0556	27670741	0.825000	0.29262	0.015000	0.15790	0.007000	0.05969	2.663000	0.46774	2.468000	0.83385	0.585000	0.79938	GAA		0.612	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		22	20	0	0	0	0.001523	0	22	20				
NUDT15	55270	broad.mit.edu	37	13	48611888	48611888	+	Silent	SNP	G	G	A	rs200646172		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr13:48611888G>A	ENST00000258662.2	+	1	186	c.6G>A	c.(4-6)acG>acA	p.T2T	SUCLA2_ENST00000543413.1_5'UTR	NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	2					dGTP catabolic process (GO:0006203)|GTP catabolic process (GO:0006184)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity (GO:0035539)|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity (GO:0008413)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		GCGCTATGACGGCCAGCGCAC	0.721											OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000258662.2																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7						c.(4-6)acG>acA		nudix (nucleoside diphosphate linked moiety X)-type motif 15							9.0	12.0	11.0					13																	48611888		2159	4195	6354	SO:0001819	synonymous_variant	55270						hydrolase activity|metal ion binding	g.chr13:48611888G>A		CCDS9407.1	13q14.12	2006-04-12			ENSG00000136159	ENSG00000136159		"""Nudix motif containing"""	23063	protein-coding gene	gene with protein product		615792				12767940	Standard	NM_018283		Approved	MTH2, FLJ10956	uc001vbw.1	Q9NV35	OTTHUMG00000016890	ENST00000258662.2:c.6G>A	13.37:g.48611888G>A			OREG0022405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	955	SUCLA2_ENST00000543413.1_5'UTR	p.T2T	NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN		GBM - Glioblastoma multiforme(144;4.83e-07)	1	186	+		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	2					A2RUR6|Q32Q27|Q6P2C9	Silent	SNP	ENST00000258662.2	37	c.6G>A	CCDS9407.1																																																																																				0.721	NUDT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044862.3	NM_018283		3	0	0	0	0	0.004672	0	3	0				
NBPF10	100132406	broad.mit.edu	37	1	145293460	145293460	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:145293460G>C	ENST00000369339.3	+	3	308	c.55G>C	c.(55-57)Gaa>Caa	p.E19Q	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Missense_Mutation_p.E19Q|NBPF10_ENST00000369338.1_Intron			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	290						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAACATTCTAGAAATCAACGA	0.522																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(55-57)Gaa>Caa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145293460G>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.55G>C	1.37:g.145293460G>C	ENSP00000358345:p.Glu19Gln					RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.E19Q	p.E19Q	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	90	+	all_hematologic(923;0.032)		19					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.55G>C		.	.	.	.	.	.	.	.	.	.	.	10.94	1.491944	0.26774	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.03212	4.01	1.21	1.21	0.21127	.	.	.	.	.	T	0.07324	0.0185	M	0.83483	2.645	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.14671	-1.0464	9	0.72032	D	0.01	.	5.8427	0.18643	0.0:0.0:1.0:0.0	.	19	A8MQ30	.	Q	19	ENSP00000345684:E19Q	ENSP00000345684:E19Q	E	+	1	0	NBPF10	144004817	0.000000	0.05858	0.017000	0.16124	0.030000	0.12068	-0.240000	0.08952	0.969000	0.38237	0.184000	0.17185	GAA		0.522	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		122	828	0	0	0	0.003610	0	122	828				
GNPAT	8443	broad.mit.edu	37	1	231401089	231401089	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr1:231401089T>C	ENST00000366647.4	+	5	788	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	GNPAT_ENST00000366646.3_Missense_Mutation_p.F146L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	207					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTCGGGTGCCTTTTTCATGCG	0.383																																						ENST00000366647.4																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23						c.(619-621)Ttt>Ctt		glyceronephosphate O-acyltransferase							118.0	122.0	120.0					1																	231401089		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231401089T>C	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.619T>C	1.37:g.231401089T>C	ENSP00000355607:p.Phe207Leu					GNPAT_ENST00000366646.3_Missense_Mutation_p.F146L	p.F207L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN			5	788	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	207					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.619T>C	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.035589	0.93630	.	.	ENSG00000116906	ENST00000436239;ENST00000366647;ENST00000366646;ENST00000416000	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	5.25	5.25	0.73442	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.96546	0.8873	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.994	D	0.97350	0.9963	10	0.87932	D	0	.	15.4621	0.75366	0.0:0.0:0.0:1.0	.	146;207	B4DNM9;O15228	.;GNPAT_HUMAN	L	146;207;146;197	ENSP00000402811:F146L;ENSP00000355607:F207L;ENSP00000355606:F146L;ENSP00000411640:F197L	ENSP00000355606:F146L	F	+	1	0	GNPAT	229467712	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.630000	0.83225	2.120000	0.65058	0.383000	0.25322	TTT		0.383	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			3	92	0	0	0	0.004672	0	3	92				
PIK3CA	5290	broad.mit.edu	37	3	178952074	178952074	+	Missense_Mutation	SNP	G	G	C	rs121913283		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr3:178952074G>C	ENST00000263967.3	+	21	3286	c.3129G>C	c.(3127-3129)atG>atC	p.M1043I	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043I(66)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAACAAATGAATGATGCAC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		66	Substitution - Missense(66)	p.M1043I(66)	large_intestine(36)|endometrium(11)|breast(6)|urinary_tract(4)|lung(4)|cervix(2)|thyroid(1)|central_nervous_system(1)|ovary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3127-3129)atG>atC		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							98.0	88.0	91.0					3																	178952074		1907	4120	6027	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952074G>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3129G>C	3.37:g.178952074G>C	ENSP00000263967:p.Met1043Ile	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043I	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3286	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3129G>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859141	0.51376	.	.	ENSG00000121879	ENST00000263967	T	0.75260	-0.92	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	N	0.00500	-1.43	0.80722	D	1	B	0.25955	0.138	B	0.19666	0.026	T	0.58662	-0.7597	10	0.02654	T	1	-20.5202	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1043	P42336	PK3CA_HUMAN	I	1043	ENSP00000263967:M1043I	ENSP00000263967:M1043I	M	+	3	0	PIK3CA	180434768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			40	55	0	0	0	0.007835	0	40	55				
CAMK2A	815	broad.mit.edu	37	5	149602592	149602592	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr5:149602592C>T	ENST00000348628.6	-	17	2058	c.1393G>A	c.(1393-1395)Gtc>Atc	p.V465I	CAMK2A_ENST00000398376.3_Missense_Mutation_p.V476I|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	465					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAAGTGGACGATCTGCCAT	0.632																																						ENST00000348628.6																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(1393-1395)Gtc>Atc		calcium/calmodulin-dependent protein kinase II alpha							71.0	83.0	79.0					5																	149602592		2182	4293	6475	SO:0001583	missense	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149602592C>T	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.1393G>A	5.37:g.149602592C>T	ENSP00000261793:p.Val465Ile					CAMK2A_ENST00000398376.3_Missense_Mutation_p.V476I|CAMK2A_ENST00000351010.6_5'UTR	p.V465I	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	2058	-		all_hematologic(541;0.224)	465					Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	37	c.1393G>A	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.990298	0.74589	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.54479	0.57;0.57	5.15	4.29	0.51040	Calcium/calmodulin-dependent protein kinase II, association-domain (1);	0.000000	0.64402	U	0.000006	T	0.58949	0.2158	L	0.57536	1.79	0.58432	D	0.999999	B;P;B	0.39920	0.03;0.695;0.03	B;P;B	0.47705	0.012;0.555;0.012	T	0.61148	-0.7121	10	0.52906	T	0.07	.	13.9542	0.64137	0.0:0.9263:0.0:0.0737	.	465;476;465	Q9UQM7;A8K161;Q7LDD5	KCC2A_HUMAN;.;.	I	465;476	ENSP00000261793:V465I;ENSP00000381412:V476I	ENSP00000261793:V465I	V	-	1	0	CAMK2A	149582785	0.993000	0.37304	0.996000	0.52242	0.986000	0.74619	3.075000	0.50073	1.188000	0.43014	0.555000	0.69702	GTC		0.632	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		57	67	0	0	0	0.003610	0	57	67				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	118	0	0	0	0.004672	0	3	118				
LETM2	137994	broad.mit.edu	37	8	38264955	38264955	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr8:38264955G>T	ENST00000379957.4	+	10	1514	c.1387G>T	c.(1387-1389)Gga>Tga	p.G463*	LETM2_ENST00000523983.2_Nonsense_Mutation_p.G416*|LETM2_ENST00000524874.1_Nonsense_Mutation_p.G415*|RP11-350N15.6_ENST00000606593.1_RNA|LETM2_ENST00000527710.1_Nonsense_Mutation_p.G249*|LETM2_ENST00000297720.5_Nonsense_Mutation_p.G368*	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	463						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			ATTACCTAAAGGACCCATCAC	0.388																																						ENST00000379957.4																			0				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(1387-1389)Gga>Tga		leucine zipper-EF-hand containing transmembrane protein 2							176.0	163.0	167.0					8																	38264955		2203	4300	6503	SO:0001587	stop_gained	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38264955G>T	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1387G>T	8.37:g.38264955G>T	ENSP00000369291:p.Gly463*					LETM2_ENST00000297720.5_Nonsense_Mutation_p.G368*|LETM2_ENST00000523983.2_Nonsense_Mutation_p.G416*|LETM2_ENST00000527710.1_Nonsense_Mutation_p.G249*|LETM2_ENST00000524874.1_Nonsense_Mutation_p.G415*	p.G463*	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		10	1514	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	463					A6NMG3|Q8NCR2|Q96LL1	Nonsense_Mutation	SNP	ENST00000379957.4	37	c.1387G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.75|14.75	2.627203|2.627203	0.46944|0.46944	.|.	.|.	ENSG00000165046|ENSG00000165046	ENST00000297720;ENST00000524874;ENST00000379957;ENST00000523983;ENST00000527710|ENST00000527175	.|.	.|.	.|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	1.470630|.	0.04114|.	N|.	0.315118|.	.|T	.|0.64505	.|0.2604	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63589	.|-0.6603	.|4	0.14252|.	T|.	0.57|.	-3.1925|-3.1925	13.0793|13.0793	0.59104|0.59104	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	368;415;463;416;249|57	.|.	ENSP00000297720:G368X|.	G|R	+|+	1|2	0|0	LETM2|LETM2	38384112|38384112	0.142000|0.142000	0.22610|0.22610	0.137000|0.137000	0.22149|0.22149	0.075000|0.075000	0.17131|0.17131	2.233000|2.233000	0.43027|0.43027	2.134000|2.134000	0.65973|0.65973	0.561000|0.561000	0.74099|0.74099	GGA|AGG		0.388	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		68	113	1	0	6.88731e-43	0.003610	9.64224e-43	68	113				
ZNF48	197407	broad.mit.edu	37	16	30409512	30409512	+	Missense_Mutation	SNP	G	G	A	rs145091254		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr16:30409512G>A	ENST00000320159.2	+	2	1317	c.941G>A	c.(940-942)cGg>cAg	p.R314Q	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GAGTTTGCCCGGGGATCCGAC	0.622																																						ENST00000320159.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(940-942)cGg>cAg		zinc finger protein 48		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	88.0	100.0	96.0		941,572,941,941	4.9	1.0	16	dbSNP_134	96	0,8600		0,0,4300	no	missense,missense,missense,missense	ZNF48	NM_001214906.1,NM_001214907.1,NM_001214909.1,NM_152652.2	43,43,43,43	0,1,6496	AA,AG,GG		0.0,0.0228,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	314/619,191/496,314/619,314/619	30409512	1,12993	2197	4300	6497	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409512G>A	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.941G>A	16.37:g.30409512G>A	ENSP00000324056:p.Arg314Gln						p.R314Q	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN			2	1317	+			314					Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.941G>A	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.733793	0.30684	2.28E-4	0.0	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.14893	2.47	4.93	4.93	0.64822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37012	N	0.002281	T	0.15696	0.0378	N	0.05619	-0.0049999999999999	0.23640	N	0.997222	D	0.76494	0.999	D	0.87578	0.998	T	0.23547	-1.0185	10	0.05351	T	0.99	-12.9205	9.1161	0.36758	0.0971:0.0:0.9029:0.0	.	314	Q96MX3	ZNF48_HUMAN	Q	439;314	ENSP00000324056:R314Q	ENSP00000324056:R314Q	R	+	2	0	ZNF48	30317013	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	-0.318000	0.08050	2.565000	0.86533	0.467000	0.42956	CGG		0.622	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		43	42	0	0	0	0.002522	0	43	42				
MTMR12	54545	broad.mit.edu	37	5	32230250	32230250	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr5:32230250C>A	ENST00000382142.3	-	16	2048	c.1878G>T	c.(1876-1878)ttG>ttT	p.L626F	MTMR12_ENST00000264934.5_Missense_Mutation_p.L516F|MTMR12_ENST00000510216.1_5'UTR|MTMR12_ENST00000280285.5_Missense_Mutation_p.L572F	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	626	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCGGTAACAACAAACCATGGT	0.483																																						ENST00000382142.3																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1876-1878)ttG>ttT		myotubularin related protein 12							99.0	98.0	98.0					5																	32230250		2203	4300	6503	SO:0001583	missense	54545					cytoplasm	phosphatase activity	g.chr5:32230250C>A	AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1878G>T	5.37:g.32230250C>A	ENSP00000371577:p.Leu626Phe					MTMR12_ENST00000264934.5_Missense_Mutation_p.L516F|MTMR12_ENST00000280285.5_Missense_Mutation_p.L572F|MTMR12_ENST00000510216.1_5'UTR	p.L626F	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN			16	2048	-			626			Myotubularin phosphatase.		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	c.1878G>T	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457207	0.43634	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	T;T;T	0.52983	0.64;0.64;0.64	5.78	2.87	0.33458	Myotubularin phosphatase domain (1);	0.000000	0.64402	D	0.000001	T	0.58366	0.2117	M	0.62723	1.935	0.22389	N	0.999143	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.47849	-0.9085	10	0.72032	D	0.01	.	3.9688	0.09444	0.1198:0.5421:0.1967:0.1414	.	516;572;626	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	F	572;626;516	ENSP00000280285:L572F;ENSP00000371577:L626F;ENSP00000264934:L516F	ENSP00000264934:L516F	L	-	3	2	MTMR12	32266007	0.861000	0.29849	0.103000	0.21229	0.394000	0.30568	0.633000	0.24598	0.779000	0.33543	0.561000	0.74099	TTG		0.483	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	NM_019061		72	96	1	0	9.07738e-34	0.003610	1.23553e-33	72	96				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	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		46	63	0	0	0	0.003610	0	46	63				
ARRDC5	645432	broad.mit.edu	37	19	4891083	4891083	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr19:4891083G>A	ENST00000381781.2	-	3	1003	c.1004C>T	c.(1003-1005)cCc>cTc	p.P335L	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	335										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGGGTTCACGGGTAACACTCC	0.512																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(1003-1005)cCc>cTc		arrestin domain containing 5							76.0	78.0	77.0					19																	4891083		2028	4195	6223	SO:0001583	missense	645432				signal transduction			g.chr19:4891083G>A		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.1004C>T	19.37:g.4891083G>A	ENSP00000371200:p.Pro335Leu						p.P335L	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	3	1003	-			335						Missense_Mutation	SNP	ENST00000381781.2	37	c.1004C>T	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644392	0.29246	.	.	ENSG00000205784	ENST00000381781	T	0.23552	1.9	3.13	3.13	0.36017	Immunoglobulin E-set (1);	.	.	.	.	T	0.19127	0.0459	L	0.27053	0.805	0.09310	N	1	B	0.25351	0.124	B	0.24701	0.055	T	0.15321	-1.0441	9	0.87932	D	0	-6.9293	9.9844	0.41832	0.0:0.0:1.0:0.0	.	335	A6NEK1	ARRD5_HUMAN	L	335	ENSP00000371200:P335L	ENSP00000371200:P335L	P	-	2	0	ARRDC5	4842083	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.332000	0.19751	2.076000	0.62316	0.650000	0.86243	CCC		0.512	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		38	56	0	0	0	0.005524	0	38	56				
INTS1	26173	broad.mit.edu	37	7	1542823	1542823	+	Silent	SNP	G	G	A			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:1542823G>A	ENST00000404767.3	-	3	148	c.63C>T	c.(61-63)caC>caT	p.H21H	INTS1_ENST00000389470.4_Silent_p.H149H|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	21					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTGGGGGAGGGTGCCCTGCAG	0.542																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(445-447)caC>caT		integrator complex subunit 1							42.0	48.0	46.0					7																	1542823		1926	4129	6055	SO:0001819	synonymous_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1542823G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.63C>T	7.37:g.1542823G>A						INTS1_ENST00000404767.3_Silent_p.H21H	p.H149H			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	4	446	-		Ovarian(82;0.0253)	21					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	c.447C>T	CCDS47526.1																																																																																				0.542	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			30	50	0	0	0	0.003755	0	30	50				
AOC1	26	broad.mit.edu	37	7	150558122	150558122	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr7:150558122T>A	ENST00000493429.1	+	7	2665	c.2081T>A	c.(2080-2082)tTc>tAc	p.F694Y	AOC1_ENST00000416793.2_Missense_Mutation_p.F713Y|AOC1_ENST00000467291.1_Missense_Mutation_p.F694Y|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.F694Y			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	694					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	TCCGTGGGCTTCCTGCTCCGG	0.627																																						ENST00000493429.1																			0											c.(2080-2082)tTc>tAc		amine oxidase, copper containing 1							63.0	76.0	72.0					7																	150558122		2063	4216	6279	SO:0001583	missense	26							g.chr7:150558122T>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2081T>A	7.37:g.150558122T>A	ENSP00000418614:p.Phe694Tyr					AOC1_ENST00000416793.2_Missense_Mutation_p.F713Y|AOC1_ENST00000360937.4_Missense_Mutation_p.F694Y|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.F694Y	p.F694Y							7	2665	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.2081T>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.863710	0.91511	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.04809	3.55;3.55;3.55;3.55	5.01	5.01	0.66863	Copper amine oxidase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	M	0.92738	3.34	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.18272	-1.0342	10	0.72032	D	0.01	-28.9915	12.689	0.56964	0.0:0.0:0.0:1.0	.	713;694	C9J690;P19801	.;ABP1_HUMAN	Y	694;694;694;713;570	ENSP00000418614:F694Y;ENSP00000418328:F694Y;ENSP00000354193:F694Y;ENSP00000411613:F713Y	ENSP00000354193:F694Y	F	+	2	0	ABP1	150189055	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.632000	0.83247	1.884000	0.54569	0.397000	0.26171	TTC		0.627	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		41	50	0	0	0	0.006999	0	41	50				
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937|rs74800608|rs375843790|rs74185804|rs202010288	byFrequency	TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764														5004	0.999201	0.9992	1.0	5008	,	,		2724	1.0		0.999	False		,,,				2504	0.998					ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II																																						6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12046124_12046126delAGC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12046124_12046126delAGC										Q86VA8	Q86VA8_HUMAN			0	245_247	+								A8MY98	RNA	DEL	ENST00000432424.2	37																																																																																						0.764	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		3	4						3	4	---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150023002	150023002	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr6:150023002delT	ENST00000543571.1	-	2	808	c.261delA	c.(259-261)ccafs	p.P87fs	LATS1_ENST00000392273.3_Frame_Shift_Del_p.P87fs|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Frame_Shift_Del_p.P87fs	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CATTTGCAAATGGAAGCAGAG	0.398																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(259-261)ccfs		large tumor suppressor kinase 1							157.0	155.0	156.0					6																	150023002		2203	4300	6503	SO:0001589	frameshift_variant	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150023002delT	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.261delA	6.37:g.150023002delT	ENSP00000437550:p.Pro87fs					LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Frame_Shift_Del_p.P87fs|LATS1_ENST00000392273.3_Frame_Shift_Del_p.P87fs	p.P87fs	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	2	808	-		Ovarian(120;0.0164)	87						Frame_Shift_Del	DEL	ENST00000543571.1	37	c.261delA	CCDS34551.1																																																																																				0.398	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		47	159						47	159	---	---	---	---
RP11-1028N23.4	0	broad.mit.edu	37	12	116030326	116030327	+	lincRNA	INS	-	-	T	rs113877692		TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr12:116030326_116030327insT	ENST00000551940.1	-	0	343																											cctccattttcTTTTTTTTTTT	0.475																																						ENST00000551940.1																			0																																																			0							g.chr12:116030326_116030327insT																													12.37:g.116030337_116030337dupT														0	343	-									RNA	INS	ENST00000551940.1	37																																																																																						0.475	RP11-1028N23.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000403876.1			2	4						2	4	---	---	---	---
SORD2P	653381	broad.mit.edu	37	15	45154054	45154054	+	RNA	DEL	T	T	-			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr15:45154054delT	ENST00000561384.2	-	0	182																											GCCATGGAGCTTTTTTGCCTC	0.617																																						ENST00000561384.2																			0																																																			0							g.chr15:45154054delT																													15.37:g.45154054delT														0	182	-									RNA	DEL	ENST00000561384.2	37																																																																																						0.617	CTD-2008A1.2-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000416181.2			2	4						2	4	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25656557	25656557	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chr20:25656557delT	ENST00000376436.1	-	4	1906	c.1367delA	c.(1366-1368)gagfs	p.E457fs	RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.E457fs|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.E425fs|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000421829.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGCTTCTCCTCTGAGTGTGT	0.453																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1366-1368)ggfs		zinc finger protein 337							154.0	132.0	139.0					20																	25656557		2203	4300	6503	SO:0001589	frameshift_variant	26152							g.chr20:25656557delT		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.1367delA	20.37:g.25656557delT	ENSP00000365619:p.Glu457fs					RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.E425fs|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.E457fs	p.E457fs							4	1906	-								B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.1367delA	CCDS13174.1																																																																																				0.453	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			99	132						99	132	---	---	---	---
SAT1	6303	broad.mit.edu	37	X	23802147	23802147	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A3EZ-01A-11D-A202-08	TCGA-BJ-A3EZ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5ec345a2-a9b0-4c70-a967-9616460830b6	447950c6-32d0-4916-a3ca-d3d0ed83a32f	g.chrX:23802147delA	ENST00000379253.3	+	3	528	c.349delA	c.(349-351)aaafs	p.K119fs	SAT1_ENST00000379251.3_Frame_Shift_Del_p.K149fs|SAT1_ENST00000379254.1_Intron|SAT1_ENST00000379270.4_Intron|Y_RNA_ENST00000365402.1_RNA|RP13-314C10.5_ENST00000366134.2_RNA|SAT1_ENST00000489394.1_Intron			Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.N150fs*13(3)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10						ACTACTGAGGAAAAAAAAAAA	0.398																																						ENST00000379253.3																			3	Deletion - Frameshift(3)	p.N150fs*13(3)	large_intestine(3)	breast(1)|endometrium(3)|kidney(3)|lung(3)	10						c.(349-351)aafs		spermidine/spermine N1-acetyltransferase 1	Spermine(DB00127)																																			SO:0001589	frameshift_variant	6303				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	g.chrX:23802147delA	M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 1"""	313020	"""spermidine/spermine N1-acetyltransferase"""	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379253.3:c.349delA	X.37:g.23802147delA	ENSP00000368555:p.Lys119fs					SAT1_ENST00000379254.1_Intron|SAT1_ENST00000379251.3_Frame_Shift_Del_p.K149fs|SAT1_ENST00000489394.1_Intron|SAT1_ENST00000379270.4_Intron	p.K119fs			P21673	SAT1_HUMAN			3	528	+			0			N-acetyltransferase.		A8K9N2|Q7Z5R3|Q96BK0	Frame_Shift_Del	DEL	ENST00000379253.3	37	c.349delA																																																																																					0.398	SAT1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000056058.1	NM_002970		3	5						3	5	---	---	---	---
