#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
NUP214	8021	broad.mit.edu	37	9	134004831	134004831	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr9:134004831G>A	ENST00000359428.5	+	4	703	c.559G>A	c.(559-561)Gca>Aca	p.A187T	RNU6-881P_ENST00000516813.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.A187T|NUP214_ENST00000451030.1_Missense_Mutation_p.A187T			P35658	NU214_HUMAN	nucleoporin 214kDa	187	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAAAGTATGTGCAACTCTTCC	0.448			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.3				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(559-561)Gca>Aca		Homo sapiens nucleoporin 214kDa (NUP214), mRNA.							244.0	193.0	210.0					9																	134004831		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134004831G>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.559G>A	9.37:g.134004831G>A	ENSP00000352400:p.Ala187Thr		Somatic				NUP214_uc004cah.3_Missense_Mutation_p.A187T|NUP214_uc004caf.1_Missense_Mutation_p.A187T	p.A187T	NM_005085	NP_005076	WXS	Illumina GAIIx	Phase_I	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	3	670	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	187					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.559G>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972750	0.92919	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	D;D;D	0.93953	-3.32;-3.32;-3.32	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.38111	N	0.001814	D	0.95840	0.8646	M	0.63843	1.955	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.958	D	0.96175	0.9126	10	0.66056	D	0.02	-12.615	17.5111	0.87760	0.0:0.0:1.0:0.0	.	187;187	P35658-4;P35658	.;NU214_HUMAN	T	187	ENSP00000352400:A187T;ENSP00000396576:A187T;ENSP00000405014:A187T	ENSP00000352400:A187T	A	+	1	0	NUP214	132994652	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.694000	0.68272	2.434000	0.82447	0.655000	0.94253	GCA		0.448	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		15	176	0	0	0	1	0	15	176				
PALMD	54873	broad.mit.edu	37	1	100152261	100152261	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr1:100152261A>G	ENST00000263174.4	+	4	656	c.281A>G	c.(280-282)aAa>aGa	p.K94R	PALMD_ENST00000605497.1_Missense_Mutation_p.K94R	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	94					regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GATCTTGAAAAAGCTGAACTG	0.368																																						uc001dsg.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31						c.(280-282)aAa>aGa		Homo sapiens palmdelphin (PALMD), mRNA.							78.0	84.0	82.0					1																	100152261		2203	4300	6503	SO:0001583	missense	54873				regulation of cell shape	cytoplasm|membrane		g.chr1:100152261A>G	AJ312214	CCDS758.1	1p22-p21	2008-07-18			ENSG00000099260	ENSG00000099260			15846	protein-coding gene	gene with protein product		610182		C1orf11		11478809	Standard	NM_017734		Approved	FLJ20271, PALML	uc001dsg.3	Q9NP74	OTTHUMG00000010764	ENST00000263174.4:c.281A>G	1.37:g.100152261A>G	ENSP00000263174:p.Lys94Arg		Somatic					p.K94R	NM_017734	NP_060204	WXS	Illumina GAIIx	Phase_I	Q9NP74	PALMD_HUMAN		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)	3	724	+		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)	94					Q9H7E6|Q9NPM5|Q9NPM6|Q9NPS0	Missense_Mutation	SNP	ENST00000263174.4	37	c.281A>G	CCDS758.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259769	0.39995	.	.	ENSG00000099260	ENST00000263174	T	0.17213	2.29	5.87	1.0	0.19881	.	0.215311	0.48286	N	0.000190	T	0.05364	0.0142	L	0.45137	1.4	0.36516	D	0.869891	B	0.25048	0.117	B	0.25884	0.064	T	0.25502	-1.0130	10	0.25751	T	0.34	-17.382	10.5091	0.44851	0.6831:0.0:0.3169:0.0	.	94	Q9NP74	PALMD_HUMAN	R	94	ENSP00000263174:K94R	ENSP00000263174:K94R	K	+	2	0	PALMD	99924849	0.945000	0.32115	0.884000	0.34674	0.983000	0.72400	0.857000	0.27831	-0.014000	0.14175	0.533000	0.62120	AAA		0.368	PALMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029672.1	NM_017734		8	30	0	0	0	1	0	8	30				
NBEAL2	23218	broad.mit.edu	37	3	47042545	47042545	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:47042545A>G	ENST00000450053.3	+	28	4539	c.4360A>G	c.(4360-4362)Acg>Gcg	p.T1454A	NBEAL2_ENST00000292309.5_Missense_Mutation_p.T1270A|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1454					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTTCTCGGTGACGTGGCGTGG	0.632																																						uc003cqp.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4360-4362)Acg>Gcg		Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.							74.0	90.0	84.0					3																	47042545		2144	4243	6387	SO:0001583	missense	23218						binding	g.chr3:47042545A>G	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4360A>G	3.37:g.47042545A>G	ENSP00000415034:p.Thr1454Ala		Somatic				NBEAL2_uc010hjm.2_Missense_Mutation_p.T831A|NBEAL2_uc010hjn.2_5'Flank	p.T1454A	NM_015175	NP_055990	WXS	Illumina GAIIx	Phase_I	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	27	4539	+		Acute lymphoblastic leukemia(5;0.0534)	1454					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.4360A>G	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.81|11.81	1.749945|1.749945	0.30955|0.30955	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000450053|ENST00000416683	T;T|.	0.56103|.	0.5;0.48|.	5.26|5.26	4.1|4.1	0.47936|0.47936	.|.	0.360379|.	0.28784|.	N|.	0.014146|.	T|.	0.51991|.	0.1707|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	P|.	0.38395|.	0.629|.	B|.	0.44108|.	0.441|.	T|.	0.43877|.	-0.9364|.	10|.	0.20519|.	T|.	0.43|.	.|.	9.3351|9.3351	0.38045|0.38045	0.9153:0.0:0.0847:0.0|0.9153:0.0:0.0847:0.0	.|.	1454|.	Q6ZNJ1|.	NBEL2_HUMAN|.	A|W	1270;1454|741	ENSP00000292309:T1270A;ENSP00000415034:T1454A|.	ENSP00000292309:T1270A|.	T|X	+|+	1|3	0|0	NBEAL2|NBEAL2	47017549|47017549	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.443000|0.443000	0.32047|0.32047	3.698000|3.698000	0.54771|0.54771	1.012000|1.012000	0.39366|0.39366	0.533000|0.533000	0.62120|0.62120	ACG|TGA		0.632	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		3	49	0	0	0	1	0	3	49				
SLC15A2	6565	broad.mit.edu	37	3	121616260	121616260	+	Silent	SNP	T	T	C			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:121616260T>C	ENST00000489711.1	+	3	607	c.219T>C	c.(217-219)taT>taC	p.Y73Y	SLC15A2_ENST00000295605.2_Silent_p.Y73Y	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	73			Y -> C (in dbSNP:rs1143667).		drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	ATTTCCTGTATTTCCTGCACT	0.433																																						uc003eep.2																			0				NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36						c.(217-219)taT>taC		Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	Cefadroxil(DB01140)						131.0	129.0	130.0					3																	121616260		2203	4300	6503	SO:0001819	synonymous_variant	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121616260T>C	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.219T>C	3.37:g.121616260T>C			Somatic				SLC15A2_uc011bjn.1_Silent_p.Y73Y	p.Y73Y	NM_021082	NP_066568	WXS	Illumina GAIIx	Phase_I	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	2	372	+			73		Y -> C (in dbSNP:rs1143667).			A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	c.219T>C	CCDS3007.1																																																																																				0.433	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		57	67	0	0	0	1	0	57	67				
LTBP2	4053	broad.mit.edu	37	14	74971835	74971835	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr14:74971835G>A	ENST00000261978.4	-	29	4606	c.4220C>T	c.(4219-4221)gCc>gTc	p.A1407V	LTBP2_ENST00000556690.1_Missense_Mutation_p.A1363V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1407					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCGGGTGGGGGCCGGGGCATG	0.622																																						uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(4219-4221)gCc>gTc		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							35.0	38.0	37.0					14																	74971835		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74971835G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4220C>T	14.37:g.74971835G>A	ENSP00000261978:p.Ala1407Val		Somatic					p.A1407V	NM_000428	NP_000419	WXS	Illumina GAIIx	Phase_I	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	28	4607	-			1407					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.4220C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	9.685	1.150296	0.21371	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.78481	-1.17;-1.18	4.73	2.9	0.33743	Matrix fibril-associated (1);	1.016850	0.07916	N	0.975130	T	0.56077	0.1961	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44205	-0.9343	10	0.32370	T	0.25	.	8.2758	0.31871	0.0:0.4677:0.4431:0.0892	.	1407	Q14767	LTBP2_HUMAN	V	1407;1363	ENSP00000261978:A1407V;ENSP00000451477:A1363V	ENSP00000261978:A1407V	A	-	2	0	LTBP2	74041588	0.133000	0.22466	0.018000	0.16275	0.001000	0.01503	0.328000	0.19681	0.605000	0.29947	-1.107000	0.02091	GCC		0.622	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		4	66	0	0	0	1	0	4	66				
SERPINA12	145264	broad.mit.edu	37	14	94964650	94964650	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr14:94964650T>A	ENST00000341228.2	-	3	880	c.85A>T	c.(85-87)Aat>Tat	p.N29Y	SERPINA12_ENST00000556881.1_Missense_Mutation_p.N29Y	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	29					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCTTTATAATTCCTTGGTGAG	0.473																																						uc001ydj.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(85-87)Aat>Tat		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.							124.0	124.0	124.0					14																	94964650		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94964650T>A	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.85A>T	14.37:g.94964650T>A	ENSP00000342109:p.Asn29Tyr		Somatic					p.N29Y	NM_173850	NP_776249	WXS	Illumina GAIIx	Phase_I	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	2	881	-			29						Missense_Mutation	SNP	ENST00000341228.2	37	c.85A>T	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.363406	0.24684	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.87966	-2.32;-2.32	5.75	-0.933	0.10431	Serpin domain (1);	0.981567	0.08330	N	0.962506	T	0.69088	0.3072	N	0.08118	0	0.09310	N	1	B	0.14805	0.011	B	0.12156	0.007	T	0.54282	-0.8317	10	0.40728	T	0.16	.	0.8984	0.01269	0.223:0.2654:0.1153:0.3963	.	29	Q8IW75	SPA12_HUMAN	Y	29	ENSP00000451738:N29Y;ENSP00000342109:N29Y	ENSP00000342109:N29Y	N	-	1	0	SERPINA12	94034403	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.011000	0.13264	-0.390000	0.07774	0.533000	0.62120	AAT		0.473	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		4	87	0	0	0	1	0	4	87				
ZNF148	7707	broad.mit.edu	37	3	124952243	124952243	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr3:124952243C>G	ENST00000360647.4	-	9	1812	c.1327G>C	c.(1327-1329)Gac>Cac	p.D443H	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.D443H|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.D443H|ZNF148_ENST00000484491.1_Missense_Mutation_p.D443H|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	443					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TGATCAATGTCAGCATTGCCT	0.393																																						uc003ehx.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(1327-1329)Gac>Cac		Homo sapiens zinc finger protein 148 (ZNF148), mRNA.							97.0	92.0	94.0					3																	124952243		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124952243C>G	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1327G>C	3.37:g.124952243C>G	ENSP00000353863:p.Asp443His		Somatic				SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.D443H|ZNF148_uc010hsa.3_Missense_Mutation_p.D443H|ZNF148_uc003eia.4_Missense_Mutation_p.D443H|ZNF148_uc003ehy.3_Intron	p.D443H	NM_021964	NP_068799	WXS	Illumina GAIIx	Phase_I	Q9UQR1	ZN148_HUMAN			8	1813	-			443					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1327G>C	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095500	0.76870	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.31	5.31	0.75309	.	0.045975	0.85682	D	0.000000	T	0.60143	0.2246	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.65987	0.94	T	0.61491	-0.7052	10	0.66056	D	0.02	-12.7842	19.1738	0.93594	0.0:1.0:0.0:0.0	.	443	Q9UQR1	ZN148_HUMAN	H	443	ENSP00000353863:D443H;ENSP00000420335:D443H;ENSP00000419322:D443H;ENSP00000420448:D443H	ENSP00000353863:D443H	D	-	1	0	ZNF148	126434933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.764000	0.94973	0.655000	0.94253	GAC		0.393	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		3	67	0	0	0	1	0	3	67				
AKAP13	11214	broad.mit.edu	37	15	86270359	86270359	+	Silent	SNP	G	G	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr15:86270359G>A	ENST00000394518.2	+	28	6980	c.6885G>A	c.(6883-6885)gaG>gaA	p.E2295E	AKAP13_ENST00000394510.2_Silent_p.E540E|RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.E2299E	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2295	Interaction with ESR1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CACATGAGGAGAAAGGTTTAT	0.433																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blu.1																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(6895-6897)gaG>gaA		Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 1, mRNA.							114.0	100.0	105.0					15																	86270359		2202	4299	6501	SO:0001819	synonymous_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity	g.chr15:86270359G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6885G>A	15.37:g.86270359G>A			Somatic				AKAP13_uc002blv.1_Silent_p.E2295E|AKAP13_uc010bnf.1_Silent_p.E916E|AKAP13_uc002blw.1_Silent_p.E760E|AKAP13_uc002blx.1_Silent_p.E540E	p.E2299E	NM_006738	NP_006729	WXS	Illumina GAIIx	Phase_I	Q12802	AKP13_HUMAN			27	7067	+			2295			Interaction with ESR1.|PH.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.6897G>A	CCDS32319.1																																																																																				0.433	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		7	57	0	0	0	1	0	7	57				
ZNF341	84905	broad.mit.edu	37	20	32336877	32336877	+	Splice_Site	SNP	A	A	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr20:32336877A>G	ENST00000375200.1	+	4	853	c.488A>G	c.(487-489)cAg>cGg	p.Q163R	ZNF341_ENST00000342427.2_Splice_Site_p.Q163R	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	163	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCACCTGTGCAGGTAAGAAGG	0.557																																						uc002wzy.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						c.e4+1		Homo sapiens zinc finger protein 341 (ZNF341), mRNA.							61.0	53.0	56.0					20																	32336877		2203	4300	6503	SO:0001630	splice_region_variant	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32336877A>G	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.489+1A>G	20.37:g.32336877A>G			Somatic				ZNF341_uc002wzx.3_Splice_Site_p.Q163_splice|ZNF341_uc010geq.3_Splice_Site_p.Q73_splice|ZNF341_uc010ger.3_Splice_Site	p.Q163_splice	NM_032819	NP_116208	WXS	Illumina GAIIx	Phase_I	Q9BYN7	ZN341_HUMAN			4	509	+			163			Pro-rich.		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Splice_Site	SNP	ENST00000375200.1	37	c.489_splice		.	.	.	.	.	.	.	.	.	.	A	24.8	4.569675	0.86439	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.10288	3.13;2.89	5.83	4.67	0.58626	.	0.058627	0.64402	D	0.000001	T	0.22399	0.0540	L	0.58101	1.795	0.58432	D	0.999996	D;D;D	0.63880	0.993;0.986;0.992	P;P;P	0.57009	0.777;0.651;0.811	T	0.00412	-1.1755	10	0.44086	T	0.13	-25.2078	12.7153	0.57111	0.8628:0.1372:0.0:0.0	.	104;163;163	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	R	163	ENSP00000344308:Q163R;ENSP00000364346:Q163R	ENSP00000344308:Q163R	Q	+	2	0	ZNF341	31800538	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.566000	0.73978	2.228000	0.72767	0.528000	0.53228	CAG		0.557	ZNF341-201	KNOWN	basic	protein_coding	protein_coding			Missense_Mutation	3	66	0	0	0	1	0	3	66				
TMEM181	57583	broad.mit.edu	37	6	158957887	158957887	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr6:158957887C>T	ENST00000367090.3	+	1	420	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	137					pathogenesis (GO:0009405)	integral component of membrane (GO:0016021)	toxic substance binding (GO:0015643)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CAAGGATGACCGCTACTACAG	0.746																																						uc003qrm.4																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22						c.(409-411)Cgc>Tgc		Homo sapiens transmembrane protein 181 (TMEM181), mRNA.							15.0	19.0	17.0					6																	158957887		1877	4039	5916	SO:0001583	missense	57583				pathogenesis	integral to membrane	toxin binding	g.chr6:158957887C>T	AB037844	CCDS43520.1	6q25.3	2012-08-10	2006-10-19	2006-10-19	ENSG00000146433	ENSG00000146433			20958	protein-coding gene	gene with protein product		613209	"""G protein-coupled receptor 178"", ""KIAA1423"""	KIAA1423, GPR178		16452613	Standard	NM_020823		Approved		uc003qrm.4	Q9P2C4	OTTHUMG00000015913	ENST00000367090.3:c.409C>T	6.37:g.158957887C>T	ENSP00000356057:p.Arg137Cys		Somatic				TMEM181_uc010kjr.1_Silent_p.T2T	p.R137C	NM_020823	NP_065874	WXS	Illumina GAIIx	Phase_I	Q9P2C4	TM181_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)	0	420	+		Breast(66;0.000776)|Ovarian(120;0.0303)	137					Q5VTU1	Missense_Mutation	SNP	ENST00000367090.3	37	c.409C>T	CCDS43520.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.912685	0.92178	.	.	ENSG00000146433	ENST00000367090	.	.	.	4.05	4.05	0.47172	.	0.135532	0.51477	D	0.000093	T	0.60599	0.2281	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.66878	-0.5812	9	0.87932	D	0	.	14.4036	0.67065	0.0:1.0:0.0:0.0	.	137	Q9P2C4	TM181_HUMAN	C	137	.	ENSP00000356057:R137C	R	+	1	0	TMEM181	158877875	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.199000	0.65152	1.827000	0.53221	0.561000	0.74099	CGC		0.746	TMEM181-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042873.1	NM_020823		5	39	0	0	0	1	0	5	39				
C7	730	broad.mit.edu	37	5	40937653	40937653	+	Splice_Site	SNP	G	G	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr5:40937653G>T	ENST00000313164.9	+	6	787		c.e6-1			NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7						cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				CCTTTTAACAGTTACAATGAA	0.378																																						uc003jmh.3																			0											c.e6-1		Homo sapiens complement component 7 (C7), mRNA.							90.0	83.0	85.0					5																	40937653		1830	4080	5910	SO:0001630	splice_region_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40937653G>T	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.429-1G>T	5.37:g.40937653G>T			Somatic				C7_uc011cpn.1_Splice_Site	p.G143_splice	NM_000587	NP_000578	WXS	Illumina GAIIx	Phase_I	P10643	CO7_HUMAN			6	543	+		Ovarian(839;0.0112)	143			MACPF.		Q6P3T5|Q92489	Splice_Site	SNP	ENST00000313164.9	37	c.429_splice	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120528	0.77323	.	.	ENSG00000112936	ENST00000313164;ENST00000440677;ENST00000515157	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6524	0.91435	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7	40973410	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.992000	0.76238	2.941000	0.99782	0.655000	0.94253	.		0.378	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1		Intron	8	14	0	0	0	1	0	8	14				
KRTAP5-7	440050	broad.mit.edu	37	11	71238544	71238544	+	Silent	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr11:71238544C>T	ENST00000398536.4	+	1	232	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	66	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G66G(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						CCAAGGGAGGCTGTGGCTCCT	0.652																																						uc001oqq.1																			1	Substitution - coding silent(1)	p.G66G(2)	breast(1)	breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(196-198)ggC>ggT		Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA.							79.0	108.0	98.0					11																	71238544		2196	4286	6482	SO:0001819	synonymous_variant	440050					keratin filament		g.chr11:71238544C>T	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.198C>T	11.37:g.71238544C>T			Somatic					p.G66G	NM_001012503	NP_001012521	WXS	Illumina GAIIx	Phase_I	Q6L8G8	KRA57_HUMAN			0	232	+			66			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	c.198C>T	CCDS41682.1																																																																																				0.652	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			8	352	0	0	0	1	0	8	352				
ZNF136	7695	broad.mit.edu	37	19	12297911	12297911	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr19:12297911C>T	ENST00000343979.4	+	4	858	c.718C>T	c.(718-720)Cga>Tga	p.R240*	ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R174*	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	240					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CACAAGTGTTCGAAGACACAT	0.393																																						uc002mti.3																			0				NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						c.(718-720)Cga>Tga		Homo sapiens zinc finger protein 136 (ZNF136), mRNA.							89.0	82.0	84.0					19																	12297911		2203	4300	6503	SO:0001587	stop_gained	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12297911C>T	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.718C>T	19.37:g.12297911C>T	ENSP00000344162:p.Arg240*		Somatic				ZNF136_uc010xmh.2_Nonsense_Mutation_p.R174*	p.R240*	NM_003437	NP_003428	WXS	Illumina GAIIx	Phase_I	P52737	ZN136_HUMAN			3	865	+			240						Nonsense_Mutation	SNP	ENST00000343979.4	37	c.718C>T	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318385	0.95682	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	.	.	.	1.37	0.203	0.15195	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.495	0.07651	0.2898:0.4234:0.2868:0.0	.	.	.	.	X	240;174	.	.	R	+	1	2	ZNF136	12158911	.	.	0.011000	0.14972	0.998000	0.95712	.	.	0.117000	0.18138	0.650000	0.86243	CGA		0.393	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		28	35	0	0	0	1	0	28	35				
FRMD4A	55691	broad.mit.edu	37	10	13708265	13708265	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr10:13708265C>T	ENST00000357447.2	-	18	1803	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	FRMD4A_ENST00000358621.4_Missense_Mutation_p.A464T|FRMD4A_ENST00000378503.1_Missense_Mutation_p.A479T	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	479					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						AGGCGGCGGGCGGCCTCCGTA	0.527																																						uc001ims.3																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(1435-1437)Gcc>Acc		Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.							70.0	71.0	71.0					10																	13708265		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13708265C>T	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1435G>A	10.37:g.13708265C>T	ENSP00000350032:p.Ala479Thr		Somatic				FRMD4A_uc009xjf.1_Missense_Mutation_p.A479T|FRMD4A_uc001imt.1_Missense_Mutation_p.A512T	p.A479T	NM_018027	NP_060497	WXS	Illumina GAIIx	Phase_I	Q9P2Q2	FRM4A_HUMAN			17	1787	-			479					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.1435G>A	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376061	0.95923	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546	D;D;D;D	0.90444	-2.66;-2.67;-2.67;-2.43	5.05	5.05	0.67936	.	0.048900	0.85682	D	0.000000	D	0.94584	0.8255	M	0.67569	2.06	0.80722	D	1	D;P	0.76494	0.999;0.93	D;P	0.70016	0.967;0.711	D	0.94522	0.7728	10	0.56958	D	0.05	-22.9481	18.5945	0.91225	0.0:1.0:0.0:0.0	.	512;479	Q5T376;Q9P2Q2	.;FRM4A_HUMAN	T	464;479;479;512	ENSP00000351438:A464T;ENSP00000350032:A479T;ENSP00000367764:A479T;ENSP00000264546:A512T	ENSP00000264546:A512T	A	-	1	0	FRMD4A	13748271	1.000000	0.71417	0.996000	0.52242	0.882000	0.50991	5.817000	0.69229	2.641000	0.89580	0.561000	0.74099	GCC		0.527	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		13	31	0	0	0	1	0	13	31				
CHD3	1107	broad.mit.edu	37	17	7797853	7797853	+	Missense_Mutation	SNP	G	G	A	rs144356754		TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr17:7797853G>A	ENST00000330494.7	+	8	1346	c.1196G>A	c.(1195-1197)cGt>cAt	p.R399H	CHD3_ENST00000380358.4_Missense_Mutation_p.R458H|CHD3_ENST00000358181.4_Missense_Mutation_p.R399H	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	399					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACCTGCCCTCGTGCCTACCAC	0.577																																						uc002gjd.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1372-1374)cGt>cAt		Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	178.0	131.0	147.0		1373,1196,1196	4.8	1.0	17	dbSNP_134	147	0,8600		0,0,4300	yes	missense,missense,missense	CHD3	NM_001005271.2,NM_001005273.2,NM_005852.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	458/2060,399/2001,399/1967	7797853	1,13005	2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7797853G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1196G>A	17.37:g.7797853G>A	ENSP00000332628:p.Arg399His		Somatic				CHD3_uc002gje.2_Missense_Mutation_p.R399H|CHD3_uc002gjf.2_Missense_Mutation_p.R399H|CHD3_uc002gjg.1_Missense_Mutation_p.R227H	p.R458H	NM_001005271	NP_001005271	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			7	1375	+		Prostate(122;0.202)	399					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1373G>A	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869422	0.72065	2.27E-4	0.0	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	D;D;D	0.94897	-3.55;-3.55;-3.55	4.81	4.81	0.61882	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.299131	0.24269	N	0.040014	D	0.97170	0.9075	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.994;0.997;0.998	D	0.97815	1.0253	10	0.87932	D	0	-1.4663	18.0617	0.89379	0.0:0.0:1.0:0.0	.	399;399;458	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	H	458;399;399	ENSP00000369716:R458H;ENSP00000350907:R399H;ENSP00000332628:R399H	ENSP00000332628:R399H	R	+	2	0	CHD3	7738578	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.537000	0.98070	2.499000	0.84300	0.557000	0.71058	CGT		0.577	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		7	184	0	0	0	1	0	7	184				
ADARB2	105	broad.mit.edu	37	10	1229245	1229245	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr10:1229245G>A	ENST00000381312.1	-	10	2433	c.2108C>T	c.(2107-2109)gCg>gTg	p.A703V	ADARB2_ENST00000381305.1_Missense_Mutation_p.A105V|ADARB2_ENST00000381310.3_Missense_Mutation_p.A212V	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	703	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTAGGTGTGCGCCCCCAGCTT	0.592																																						uc009xhq.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(2107-2109)gCg>gTg		Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.							63.0	59.0	60.0					10																	1229245		2203	4300	6503	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1229245G>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.2108C>T	10.37:g.1229245G>A	ENSP00000370713:p.Ala703Val		Somatic				ADARB2_uc001igj.2_Missense_Mutation_p.A87V|ADARB2_uc001igl.4_Missense_Mutation_p.A65V|ADARB2_uc001igm.4_Missense_Mutation_p.A212V	p.A703V	NM_018702	NP_061172	WXS	Illumina GAIIx	Phase_I	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	9	2434	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	703			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.2108C>T	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049338	0.75846	.	.	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	D;D;D	0.94862	-3.54;-3.54;-3.54	5.32	5.32	0.75619	Adenosine deaminase/editase (3);	0.104162	0.64402	D	0.000003	D	0.96488	0.8854	M	0.70787	2.145	0.58432	D	0.999998	D;D;D	0.89917	0.995;0.999;1.0	P;P;D	0.87578	0.559;0.622;0.998	D	0.95478	0.8558	10	0.34782	T	0.22	-24.9767	13.9181	0.63914	0.0:0.0:0.8479:0.1521	.	703;105;212	Q9NS39;Q5VW43;Q5VW42	RED2_HUMAN;.;.	V	703;212;105	ENSP00000370713:A703V;ENSP00000370711:A212V;ENSP00000370706:A105V	ENSP00000370706:A105V	A	-	2	0	ADARB2	1219245	1.000000	0.71417	0.961000	0.40146	0.987000	0.75469	6.563000	0.73964	2.502000	0.84385	0.561000	0.74099	GCG		0.592	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		5	35	0	0	0	1	0	5	35				
MAPK4	5596	broad.mit.edu	37	18	48190438	48190438	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr18:48190438C>T	ENST00000400384.2	+	2	1146	c.110C>T	c.(109-111)gCc>gTc	p.A37V	MAPK4_ENST00000592595.1_Missense_Mutation_p.A37V|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.A37V	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	37	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GTGCTGTCGGCCGTGGACAGC	0.597																																						uc002lev.3																			0				lung(4)|skin(3)|upper_aerodigestive_tract(1)	8						c.(109-111)gCc>gTc		Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.							78.0	86.0	84.0					18																	48190438		2107	4223	6330	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48190438C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.110C>T	18.37:g.48190438C>T	ENSP00000383234:p.Ala37Val		Somatic				MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.A37V	p.A37V	NM_002747	NP_002738	WXS	Illumina GAIIx	Phase_I	P31152	MK04_HUMAN		Colorectal(21;0.156)	1	1110	+		Colorectal(6;0.0297)	37			Protein kinase.		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.110C>T	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949295	0.73787	.	.	ENSG00000141639	ENST00000400384	T	0.55413	0.52	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.68842	0.3045	L	0.51853	1.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.67806	-0.5575	10	0.56958	D	0.05	-4.502	18.9662	0.92697	0.0:1.0:0.0:0.0	.	37;37	Q0VG04;P31152	.;MK04_HUMAN	V	37	ENSP00000383234:A37V	ENSP00000383234:A37V	A	+	2	0	MAPK4	46444436	1.000000	0.71417	0.174000	0.22961	0.098000	0.18820	7.815000	0.86186	2.780000	0.95670	0.561000	0.74099	GCC		0.597	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2	NM_002747		8	118	0	0	0	1	0	8	118				
COL4A3	1285	broad.mit.edu	37	2	228118353	228118353	+	Splice_Site	SNP	C	C	T	rs573527081	byFrequency	TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr2:228118353C>T	ENST00000396578.3	+	13	926	c.764C>T	c.(763-765)aCg>aTg	p.T255M	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	255	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GATAACAGAACGGTAACTCTG	0.468													C|||	2	0.000399361	0.0	0.0	5008	,	,		17952	0.0		0.0	False		,,,				2504	0.002					uc002vom.2																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.e13+1		Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.							296.0	277.0	283.0					2																	228118353		1943	4144	6087	SO:0001630	splice_region_variant	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228118353C>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.765+1C>T	2.37:g.228118353C>T			Somatic				BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	p.T255_splice	NM_000091	NP_000082	WXS	Illumina GAIIx	Phase_I	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	13	927	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	255			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Splice_Site	SNP	ENST00000396578.3	37	c.765_splice	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870179	0.72065	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.94376	-3.41	5.59	5.59	0.84812	.	0.115539	0.38436	N	0.001697	D	0.95595	0.8568	L	0.60455	1.87	0.33974	D	0.647188	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.977;0.997;0.99;0.987	D	0.97171	0.9844	10	0.44086	T	0.13	.	15.0921	0.72204	0.0:1.0:0.0:0.0	.	255;255;255;255	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	M	255	ENSP00000379823:T255M	ENSP00000323334:T255M	T	+	2	0	COL4A3	227826597	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	2.581000	0.46077	2.628000	0.89032	0.655000	0.94253	ACG		0.468	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091	Missense_Mutation	4	142	0	0	0	1	0	4	142				
ADAMTS15	170689	broad.mit.edu	37	11	130339245	130339245	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr11:130339245C>G	ENST00000299164.2	+	5	1631	c.1631C>G	c.(1630-1632)aCc>aGc	p.T544S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	544	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGGCAGTGCACCAACCCCACC	0.642																																						uc010scd.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36						c.(1630-1632)aCc>aGc		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.							55.0	45.0	48.0					11																	130339245		2201	4297	6498	SO:0001583	missense	170689				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr11:130339245C>G	AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.1631C>G	11.37:g.130339245C>G	ENSP00000299164:p.Thr544Ser		Somatic					p.T544S	NM_139055	NP_620686	WXS	Illumina GAIIx	Phase_I	Q8TE58	ATS15_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)	4	1631	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	544			TSP type-1 1.		Q32MI6	Missense_Mutation	SNP	ENST00000299164.2	37	c.1631C>G	CCDS8488.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360736	0.24598	.	.	ENSG00000166106	ENST00000299164	T	0.51071	0.72	5.49	1.32	0.21799	.	.	.	.	.	T	0.30293	0.0760	N	0.21097	0.63	0.27579	N	0.949635	B	0.02656	0.0	B	0.04013	0.001	T	0.19192	-1.0313	9	0.37606	T	0.19	.	7.0325	0.24975	0.2575:0.5133:0.2292:0.0	.	544	Q8TE58	ATS15_HUMAN	S	544	ENSP00000299164:T544S	ENSP00000299164:T544S	T	+	2	0	ADAMTS15	129844455	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.932000	0.40143	0.295000	0.22570	-0.165000	0.13383	ACC		0.642	ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055		7	52	0	0	0	1	0	7	52				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	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)	uc003vwc.4	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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	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		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	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		25	45	0	0	0	1	0	25	45				
VN1R5	317705	broad.mit.edu	37	1	247420154	247420154	+	IGR	SNP	G	G	C			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr1:247420154G>C								RP11-488L18.8 (15029 upstream) : Y_RNA (37982 downstream)																							CTGTCCCCGAGTCTCACCAGT	0.468																																						uc010pyu.2																			0											c.(778-780)Gtc>Ctc		Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.							113.0	112.0	112.0					1																	247420154		1918	4128	6046	SO:0001628	intergenic_variant	317705				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr1:247420154G>C																													1.37:g.247420154G>C			Somatic					p.V260L	NM_173858	NP_776257	WXS	Illumina GAIIx	Phase_I	Q7Z5H4	VN1R5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00854)		1	778	+	all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	261						Missense_Mutation	SNP		37	c.778G>C																																																																																				0	0.468									4	60	0	0	0	1	0	4	60				
DNAH8	1769	broad.mit.edu	37	6	38697694	38697695	+	Intron	INS	-	-	T			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr6:38697694_38697695insT	ENST00000359357.3	+	3	213				DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.NF181fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCATTTACTAATTTTTTTGCGA	0.337																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(541-543)aatfs		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.																																				SO:0001627	intron_variant	1769							g.chr6:38697694_38697695insT	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.-41-4555->T	6.37:g.38697701_38697701dupT			Somatic				DNAH8_uc003ooe.2_Intron	p.N181fs	NM_001206927	NP_001193856	WXS	Illumina GAIIx	Phase_I					3	651_652	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Ins	INS	ENST00000359357.3	37	c.542_543insT																																																																																					0.337	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		2	4						2	4	---	---	---	---
TLCD2	727910	broad.mit.edu	37	17	1613182	1613183	+	Splice_Site	INS	-	-	G			TCGA-EM-A3FM-01A-11D-A21A-08	TCGA-EM-A3FM-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4d74fbc-7d92-4064-857a-c7b106d04a79	1e044dad-bb75-489f-86ab-14bf179751c7	g.chr17:1613182_1613183insG	ENST00000330676.6	-	2	372		c.e2-2			NM_001164407.1	NP_001157879.1	A6NGC4	TLCD2_HUMAN	TLC domain containing 2							integral component of membrane (GO:0016021)				prostate(1)	1						AGTGACAGGCTGGGGGCATGGG	0.693																																						uc021tnh.1																			0				prostate(1)	1						c.e2-1		Homo sapiens TLC domain containing 2 (TLCD2), mRNA.																																				SO:0001630	splice_region_variant	727910					integral to membrane		g.chr17:1613182_1613183insG		CCDS45567.1	17p13.3	2010-10-18			ENSG00000185561	ENSG00000185561			33522	protein-coding gene	gene with protein product						16793762	Standard	NM_001164407		Approved		uc021tnh.1	A6NGC4	OTTHUMG00000132477	ENST00000330676.6:c.177-2->C	17.37:g.1613187_1613187dupG			Somatic					p.G59_splice	NM_001164407	NP_001157879	WXS	Illumina GAIIx	Phase_I	A6NGC4	TLCD2_HUMAN			2	303	-			59			TLC.			Splice_Site	INS	ENST00000330676.6	37	c.177_splice	CCDS45567.1																																																																																				0.693	TLCD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255644.4	NM_001164407	Intron	2	4						2	4	---	---	---	---
