#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
PHKA2	5256	broad.mit.edu	37	X	18969292	18969292	+	Missense_Mutation	SNP	G	G	T			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chrX:18969292G>T	ENST00000379942.4	-	4	1049	c.384C>A	c.(382-384)gaC>gaA	p.D128E		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	128					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGCCCCACTGGTCGTCGCCCA	0.607																																						uc004cyv.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(382-384)gaC>gaA		Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.							180.0	122.0	142.0					X																	18969292		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18969292G>T		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.384C>A	X.37:g.18969292G>T	ENSP00000369274:p.Asp128Glu					PHKA2_uc010nfh.1_Intron|PHKA2_uc010nfi.1_Missense_Mutation_p.D70E	p.D128E	NM_000292	NP_000283	P46019	KPB2_HUMAN			3	814	-	Hepatocellular(33;0.183)		128					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.384C>A	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945741	0.53079	.	.	ENSG00000044446	ENST00000379942	D	0.89617	-2.54	6.02	4.23	0.50019	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	M	0.72479	2.2	0.53688	D	0.999979	B	0.15719	0.014	B	0.17979	0.02	T	0.82402	-0.0475	10	0.33940	T	0.23	-26.5293	10.5585	0.45131	0.2196:0.0:0.7804:0.0	.	128	P46019	KPB2_HUMAN	E	128	ENSP00000369274:D128E	ENSP00000369274:D128E	D	-	3	2	PHKA2	18879213	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.934000	0.40163	2.549000	0.85964	0.600000	0.82982	GAC		0.607	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		5	83	0	0	0	1	0	5	83				
FBXO47	494188	broad.mit.edu	37	17	37101328	37101328	+	Missense_Mutation	SNP	A	A	C	rs370821382		TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr17:37101328A>C	ENST00000378079.2	-	7	877	c.678T>G	c.(676-678)caT>caG	p.H226Q		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	226										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GATGTGTCCAATGATCAAGGA	0.388																																						uc002hrc.2																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						c.(676-678)caT>caG		Homo sapiens F-box protein 47 (FBXO47), mRNA.							154.0	134.0	141.0					17																	37101328		2203	4300	6503	SO:0001583	missense	494188							g.chr17:37101328A>C		CCDS32639.1	17q12	2014-08-12			ENSG00000204952	ENSG00000204952		"""F-boxes /  ""other"""""	31969	protein-coding gene	gene with protein product		609498				15723337	Standard	NM_001008777		Approved		uc002hrc.2	Q5MNV8	OTTHUMG00000178945	ENST00000378079.2:c.678T>G	17.37:g.37101328A>C	ENSP00000367319:p.His226Gln						p.H226Q	NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN			6	878	-			226					B2RTZ4	Missense_Mutation	SNP	ENST00000378079.2	37	c.678T>G	CCDS32639.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.416335	0.62511	.	.	ENSG00000204952	ENST00000378079	T	0.69561	-0.41	5.53	-3.45	0.04781	.	0.171825	0.53938	D	0.000046	T	0.60287	0.2257	L	0.60455	1.87	0.37069	D	0.898433	P	0.49961	0.93	P	0.44860	0.462	T	0.65705	-0.6103	10	0.54805	T	0.06	-3.1745	12.31	0.54924	0.6086:0.0:0.3914:0.0	.	226	Q5MNV8	FBX47_HUMAN	Q	226	ENSP00000367319:H226Q	ENSP00000367319:H226Q	H	-	3	2	FBXO47	34354854	0.506000	0.26139	0.964000	0.40570	0.948000	0.59901	-0.522000	0.06237	-0.729000	0.04875	-0.472000	0.04984	CAT		0.388	FBXO47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444073.1	NM_001008777		28	45	0	0	0	1	0	28	45				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	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						p.V600E	NM_004333	NP_004324	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		24	40	0	0	0	1	0	24	40				
NFATC4	4776	broad.mit.edu	37	14	24845682	24845682	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr14:24845682C>G	ENST00000250373.4	+	9	2380	c.2239C>G	c.(2239-2241)Cct>Gct	p.P747A	NFATC4_ENST00000554966.1_Missense_Mutation_p.P760A|NFATC4_ENST00000557451.1_Missense_Mutation_p.P677A|NFATC4_ENST00000556279.1_Missense_Mutation_p.P779A|NFATC4_ENST00000539237.2_Missense_Mutation_p.P779A|NFATC4_ENST00000554344.1_Missense_Mutation_p.P677A|NFATC4_ENST00000555393.1_Missense_Mutation_p.P35A|NFATC4_ENST00000555802.1_Missense_Mutation_p.P35A|NFATC4_ENST00000554591.1_Missense_Mutation_p.P810A|NFATC4_ENST00000554473.1_Missense_Mutation_p.P282A|NFATC4_ENST00000556759.1_Missense_Mutation_p.P282A|NFATC4_ENST00000555453.1_Missense_Mutation_p.P735A|NFATC4_ENST00000422617.3_Missense_Mutation_p.P735A|NFATC4_ENST00000554050.1_Missense_Mutation_p.P747A|NFATC4_ENST00000556169.1_Missense_Mutation_p.P735A|NFATC4_ENST00000555167.1_Missense_Mutation_p.P282A|NFATC4_ENST00000553708.1_Missense_Mutation_p.P747A|NFATC4_ENST00000424781.2_Missense_Mutation_p.P760A|NFATC4_ENST00000554661.1_Missense_Mutation_p.P677A|NFATC4_ENST00000557767.1_Missense_Mutation_p.P35A|NFATC4_ENST00000553879.1_Missense_Mutation_p.P677A|NFATC4_ENST00000553469.1_Missense_Mutation_p.P779A|NFATC4_ENST00000555590.1_Missense_Mutation_p.P760A|NFATC4_ENST00000413692.2_Missense_Mutation_p.P810A	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	747	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGGCATGCCCCCTCTGTACCC	0.617																																						uc010tol.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(2428-2430)Cct>Gct		Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 4, mRNA.							49.0	53.0	52.0					14																	24845682		2203	4300	6503	SO:0001583	missense	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24845682C>G	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.2239C>G	14.37:g.24845682C>G	ENSP00000250373:p.Pro747Ala					NFATC4_uc010alr.3_Missense_Mutation_p.P810A|NFATC4_uc010tok.2_Missense_Mutation_p.P810A|NFATC4_uc010too.2_Missense_Mutation_p.P760A|NFATC4_uc010tom.2_Missense_Mutation_p.P760A|NFATC4_uc010ton.2_Missense_Mutation_p.P760A|NFATC4_uc010toq.2_Missense_Mutation_p.P779A|NFATC4_uc010alt.3_Missense_Mutation_p.P779A|NFATC4_uc010top.2_Missense_Mutation_p.P779A|NFATC4_uc001wpc.3_Missense_Mutation_p.P747A|NFATC4_uc010tor.2_Missense_Mutation_p.P747A|NFATC4_uc010tos.2_Missense_Mutation_p.P677A|NFATC4_uc010tot.2_Missense_Mutation_p.P735A|NFATC4_uc010tou.2_Missense_Mutation_p.P677A|NFATC4_uc010tov.2_Missense_Mutation_p.P735A|NFATC4_uc010tow.2_Missense_Mutation_p.P677A|NFATC4_uc010alv.3_Missense_Mutation_p.P735A|NFATC4_uc010tox.2_Missense_Mutation_p.P677A|NFATC4_uc001wpd.3_Missense_Mutation_p.P282A|NFATC4_uc010toy.2_Missense_Mutation_p.P282A|NFATC4_uc010toz.2_Missense_Mutation_p.P282A|NFATC4_uc010tpa.2_Missense_Mutation_p.P35A|NFATC4_uc010tpb.2_Missense_Mutation_p.P35A	p.P810A	NM_001198966	NP_001185895	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	9	2544	+			747			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	ENST00000250373.4	37	c.2428C>G	CCDS9629.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990037	0.35131	.	.	ENSG00000100968	ENST00000413692;ENST00000554591;ENST00000555590;ENST00000554966;ENST00000424781;ENST00000539237;ENST00000556279;ENST00000553469;ENST00000554050;ENST00000250373;ENST00000553708;ENST00000553879;ENST00000554344;ENST00000554661;ENST00000556169;ENST00000557451;ENST00000422617;ENST00000555453;ENST00000554473;ENST00000556759;ENST00000555167;ENST00000557767;ENST00000555393;ENST00000555802	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.41400	3.18;3.26;3.32;3.29;3.27;3.25;3.31;3.28;3.29;3.34;3.25;3.02;3.02;2.99;2.96;2.97;2.93;3.01;1.58;1.53;1.52;1.0;1.04	5.13	4.22	0.49857	.	0.106298	0.42964	N	0.000629	T	0.26810	0.0656	N	0.19112	0.55	0.27154	N	0.961336	B;B;B;B;B;B;B;B;B;B;B;B;B	0.12013	0.001;0.001;0.0;0.001;0.0;0.001;0.001;0.003;0.005;0.001;0.001;0.003;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B	0.17098	0.001;0.004;0.002;0.002;0.002;0.002;0.002;0.005;0.017;0.004;0.004;0.005;0.001	T	0.13818	-1.0495	10	0.22109	T	0.4	-3.7481	11.169	0.48560	0.0:0.8056:0.1944:0.0	.	735;735;779;779;760;760;760;810;810;735;779;810;747	Q14934-17;Q14934-9;Q14934-14;Q14934-4;Q14934-15;Q14934-6;Q14934-7;Q14934-2;Q14934-3;Q14934-10;Q14934-5;Q14934-11;Q14934	.;.;.;.;.;.;.;.;.;.;.;.;NFAC4_HUMAN	A	810;810;760;760;760;779;779;779;747;747;747;677;677;677;735;677;735;735;282;282;282;35;35;35	ENSP00000388910:P810A;ENSP00000452039:P810A;ENSP00000451224:P760A;ENSP00000450644:P760A;ENSP00000388668:P760A;ENSP00000439350:P779A;ENSP00000452270:P779A;ENSP00000451502:P779A;ENSP00000451151:P747A;ENSP00000250373:P747A;ENSP00000450590:P747A;ENSP00000452349:P677A;ENSP00000450469:P677A;ENSP00000450733:P677A;ENSP00000451454:P735A;ENSP00000451284:P677A;ENSP00000396788:P735A;ENSP00000450686:P735A;ENSP00000450810:P282A;ENSP00000451183:P282A;ENSP00000451395:P282A;ENSP00000451801:P35A;ENSP00000451590:P35A	ENSP00000250373:P747A	P	+	1	0	NFATC4	23915522	0.991000	0.36638	1.000000	0.80357	0.997000	0.91878	0.653000	0.24902	1.351000	0.45789	0.561000	0.74099	CCT		0.617	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		16	33	0	0	0	1	0	16	33				
MCM9	254394	broad.mit.edu	37	6	119245206	119245206	+	Missense_Mutation	SNP	T	T	A			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr6:119245206T>A	ENST00000316316.6	-	3	677	c.391A>T	c.(391-393)Att>Ttt	p.I131F	MCM9_ENST00000316068.3_Missense_Mutation_p.I131F	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	131					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CTTGTTCGAATCACTGTCCCA	0.448																																						uc021zeh.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(391-393)Att>Ttt		Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA.							254.0	257.0	256.0					6																	119245206		2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119245206T>A	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.391A>T	6.37:g.119245206T>A	ENSP00000314505:p.Ile131Phe					MCM9_uc003pyh.3_Missense_Mutation_p.I131F	p.I131F	NM_017696	NP_060166	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	1	406	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	131					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.391A>T	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.725913	0.89298	.	.	ENSG00000111877	ENST00000316316;ENST00000316068;ENST00000425154	T;T;T	0.05199	3.48;3.48;3.48	5.48	5.48	0.80851	.	.	.	.	.	T	0.20577	0.0495	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.01956	-1.1240	9	0.62326	D	0.03	.	15.5716	0.76341	0.0:0.0:0.0:1.0	.	131	Q9NXL9-2	.	F	131	ENSP00000314505:I131F;ENSP00000312870:I131F;ENSP00000394776:I131F	ENSP00000312870:I131F	I	-	1	0	MCM9	119286905	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.342000	0.79310	2.072000	0.62099	0.460000	0.39030	ATT		0.448	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		6	285	0	0	0	1	0	6	285				
CSMD2	114784	broad.mit.edu	37	1	34037304	34037304	+	Silent	SNP	A	A	G			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr1:34037304A>G	ENST00000373381.4	-	51	7961	c.7785T>C	c.(7783-7785)agT>agC	p.S2595S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2597	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGCTGATGCTACTGACATCAG	0.473																																						uc001bxm.1																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(7783-7785)agT>agC		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							81.0	74.0	76.0					1																	34037304		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34037304A>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7785T>C	1.37:g.34037304A>G						CSMD2_uc001bxn.1_Silent_p.S2597S	p.S2595S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			50	7962	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2597			Sushi 16.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.7785T>C																																																																																					0.473	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		18	45	0	0	0	1	0	18	45				
STXBP5L	9515	broad.mit.edu	37	3	120941872	120941872	+	Missense_Mutation	SNP	G	G	C			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr3:120941872G>C	ENST00000273666.6	+	11	1250	c.979G>C	c.(979-981)Ggt>Cgt	p.G327R	STXBP5L_ENST00000497029.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G327R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G327R	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	327					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AATATTCTCTGGTGGGCTGTC	0.363																																						uc003eec.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(979-981)Ggt>Cgt		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.							150.0	140.0	143.0					3																	120941872		1869	4093	5962	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120941872G>C	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.979G>C	3.37:g.120941872G>C	ENSP00000273666:p.Gly327Arg					STXBP5L_uc011bji.2_Missense_Mutation_p.G327R	p.G327R	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	10	1119	+			327					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.979G>C	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.278167	0.80692	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.70986	0.11;0.2;0.01;-0.53;-0.1;0.11	4.65	4.65	0.58169	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	D	0.84955	0.5587	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.97110	0.939;1.0	D	0.87482	0.2421	10	0.87932	D	0	-24.7486	17.7198	0.88348	0.0:0.0:1.0:0.0	.	327;327	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	R	327	ENSP00000273666:G327R;ENSP00000420019:G327R;ENSP00000419627:G327R;ENSP00000420287:G327R;ENSP00000420666:G327R;ENSP00000420167:G327R	ENSP00000273666:G327R	G	+	1	0	STXBP5L	122424562	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.397000	0.81536	0.462000	0.41574	GGT		0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			7	84	0	0	0	1	0	7	84				
KDM6A	7403	broad.mit.edu	37	X	44929202	44929202	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chrX:44929202A>G	ENST00000377967.4	+	17	2343	c.2302A>G	c.(2302-2304)Aag>Gag	p.K768E	KDM6A_ENST00000382899.4_Missense_Mutation_p.K775E|KDM6A_ENST00000543216.1_Missense_Mutation_p.K689E|KDM6A_ENST00000536777.1_Missense_Mutation_p.K723E	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	768	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGGAGATTCTAAGTCACCAGG	0.473			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc011mkz.2				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(2458-2460)Aag>Gag		Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.							129.0	96.0	107.0					X																	44929202		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44929202A>G	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2302A>G	X.37:g.44929202A>G	ENSP00000367203:p.Lys768Glu					KDM6A_uc022bvi.1_Missense_Mutation_p.K438E|KDM6A_uc010nhk.2_Missense_Mutation_p.K734E|KDM6A_uc004dge.4_Missense_Mutation_p.K768E|KDM6A_uc011mla.2_Missense_Mutation_p.K723E|KDM6A_uc011mlb.2_Missense_Mutation_p.K775E|KDM6A_uc011mlc.2_Missense_Mutation_p.K472E|KDM6A_uc022bvj.1_Missense_Mutation_p.K689E|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.K407E	p.K820E	NM_021140	NP_066963	O15550	KDM6A_HUMAN			17	2833	+			768					Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.2458A>G	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.902963	0.33628	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.08	5.08	0.68730	.	0.322422	0.37219	N	0.002196	T	0.43433	0.1247	N	0.22421	0.69	0.49483	D	0.999793	P;D;B;B;P;B	0.61697	0.956;0.99;0.152;0.139;0.956;0.039	P;D;B;B;D;B	0.72982	0.899;0.979;0.058;0.055;0.931;0.018	T	0.23547	-1.0185	10	0.21540	T	0.41	-0.357	14.2214	0.65830	1.0:0.0:0.0:0.0	.	407;775;723;820;734;768	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;.;KDM6A_HUMAN	E	465;768;723;775;689	ENSP00000367203:K768E;ENSP00000437405:K723E;ENSP00000372355:K775E;ENSP00000443078:K689E	ENSP00000334340:K465E	K	+	1	0	KDM6A	44814146	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.858000	0.55979	1.805000	0.52779	0.486000	0.48141	AAG		0.473	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		26	21	0	0	0	1	0	26	21				
COL5A3	50509	broad.mit.edu	37	19	10114384	10114384	+	Missense_Mutation	SNP	G	G	C			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr19:10114384G>C	ENST00000264828.3	-	6	791	c.706C>G	c.(706-708)Cag>Gag	p.Q236E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	236	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGTTCACCCTGGGGAGCCTGG	0.607																																						uc002mmq.1																			0		p.Q236L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(706-708)Cag>Gag		Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.							96.0	79.0	85.0					19																	10114384		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10114384G>C	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.706C>G	19.37:g.10114384G>C	ENSP00000264828:p.Gln236Glu						p.Q236E	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		5	792	-			236			Nonhelical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.706C>G	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	7.530	0.658413	0.14645	.	.	ENSG00000080573	ENST00000264828	D	0.88975	-2.45	4.08	1.67	0.24075	.	1.436920	0.04656	N	0.408077	T	0.74099	0.3672	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.65249	-0.6214	10	0.02654	T	1	.	6.0507	0.19785	0.0:0.2023:0.569:0.2286	.	236	P25940	CO5A3_HUMAN	E	236	ENSP00000264828:Q236E	ENSP00000264828:Q236E	Q	-	1	0	COL5A3	9975384	0.425000	0.25498	0.026000	0.17262	0.697000	0.40408	2.581000	0.46077	1.000000	0.39049	0.456000	0.33151	CAG		0.607	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		4	42	0	0	0	1	0	4	42				
FOXR2	139628	broad.mit.edu	37	X	55650462	55650462	+	Silent	SNP	C	C	T			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chrX:55650462C>T	ENST00000339140.3	+	1	630	c.318C>T	c.(316-318)aaC>aaT	p.N106N		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	106					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATCTGACAAACATTTCTCCTT	0.542																																						uc004duo.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(316-318)aaC>aaT		Homo sapiens forkhead box R2 (FOXR2), mRNA.							67.0	61.0	63.0					X																	55650462		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|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	g.chrX:55650462C>T	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.318C>T	X.37:g.55650462C>T							p.N106N	NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN			0	630	+			106						Silent	SNP	ENST00000339140.3	37	c.318C>T	CCDS35308.1																																																																																				0.542	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		9	13	0	0	0	1	0	9	13				
SH2D6	284948	broad.mit.edu	37	2	85663670	85663670	+	Missense_Mutation	SNP	G	G	C			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr2:85663670G>C	ENST00000340326.2	+	4	654	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	Y_RNA_ENST00000384478.1_RNA|SH2D6_ENST00000389938.2_Missense_Mutation_p.E133Q|SH2D6_ENST00000481426.2_3'UTR	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6	165	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									central_nervous_system(1)|lung(2)	3						CGGCAGCCGGGAACTCACCTG	0.647																																						uc002spq.3																			0				central_nervous_system(1)|lung(2)	3						c.(493-495)Gaa>Caa		Homo sapiens SH2 domain containing 6 (SH2D6), mRNA.							77.0	67.0	70.0					2																	85663670		2203	4300	6503	SO:0001583	missense	284948							g.chr2:85663670G>C	AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"""SH2 domain containing"""	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176	ENST00000340326.2:c.493G>C	2.37:g.85663670G>C	ENSP00000341867:p.Glu165Gln					SH2D6_uc002spo.3_Non-coding_Transcript|SH2D6_uc002spp.3_Non-coding_Transcript	p.E165Q	NM_198482	NP_940884	Q7Z4S9	SH2D6_HUMAN			3	654	+			165			SH2.		A6ND14|Q6R306	Missense_Mutation	SNP	ENST00000340326.2	37	c.493G>C	CCDS1976.1	.	.	.	.	.	.	.	.	.	.	G	4.542	0.100597	0.08731	.	.	ENSG00000152292	ENST00000389938;ENST00000340326	T	0.76448	-1.02	5.07	4.19	0.49359	SH2 motif (1);	0.593369	0.14543	N	0.313185	T	0.56093	0.1962	N	0.04018	-0.295	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.44128	-0.9348	10	0.28530	T	0.3	-0.4466	10.3355	0.43847	0.0:0.6501:0.3499:0.0	.	165	Q7Z4S9	SH2D6_HUMAN	Q	133;165	ENSP00000341867:E165Q	ENSP00000341867:E165Q	E	+	1	0	SH2D6	85517181	0.004000	0.15560	0.067000	0.19924	0.207000	0.24258	1.328000	0.33758	1.288000	0.44600	0.561000	0.74099	GAA		0.647	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252493.2	NM_198482		14	61	0	0	0	1	0	14	61				
NFXL1	152518	broad.mit.edu	37	4	47916171	47916171	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr4:47916171delC	ENST00000507489.1	-	2	226	c.50delG	c.(49-51)ggafs	p.G17fs	NFXL1_ENST00000381538.3_Frame_Shift_Del_p.G17fs|NFXL1_ENST00000329043.3_Frame_Shift_Del_p.G17fs	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	17						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						AGTGGCCCGTCCCCGGGATCG	0.647																																						uc010igh.3																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						c.(49-51)ggafs		Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.							4.0	6.0	5.0					4																	47916171		2084	4148	6232	SO:0001589	frameshift_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47916171delC	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.50delG	4.37:g.47916171delC	ENSP00000422037:p.Gly17fs					BC041434_uc003gxr.1_5'Flank|NFXL1_uc003gxp.3_Frame_Shift_Del_p.G17fs|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Frame_Shift_Del_p.G17fs	p.G17fs	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN			1	227	-			17					B1Q2K1|Q86VG1|Q8WVH1	Frame_Shift_Del	DEL	ENST00000507489.1	37	c.50delG	CCDS3478.2																																																																																				0.647	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		2	4						2	4	---	---	---	---
SP4	6671	broad.mit.edu	37	7	21468304	21468306	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr7:21468304_21468306delAGG	ENST00000222584.3	+	2	235_237	c.17_19delAGG	c.(16-21)aaggag>aag	p.E11del		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	11	Poly-Glu.				regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GATCAGAAGAAGGAGGAGGAGGA	0.517																																						uc003sva.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(16-21)aaggag>aag		Homo sapiens Sp4 transcription factor (SP4), mRNA.				36,4106		7,22,2042						4.5	1.0			20	54,8024		9,36,3994	no	coding	SP4	NM_003112.3		16,58,6036	A1A1,A1R,RR		0.6685,0.8691,0.7365				90,12130				SO:0001651	inframe_deletion	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21468304_21468306delAGG		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.17_19delAGG	7.37:g.21468313_21468315delAGG	ENSP00000222584:p.Glu11del					SP4_uc003svb.3_5'UTR	p.E11del	NM_003112	NP_003103	Q02446	SP4_HUMAN			1	198_200	+			11			Poly-Glu.		O60402|Q32M52	In_Frame_Del	DEL	ENST00000222584.3	37	c.17_19delAGG	CCDS5373.1																																																																																				0.517	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		2	4						2	4	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93552546	93552547	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E3-A3E3-01A-11D-A20C-08	TCGA-E3-A3E3-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42777e66-8bee-408a-b462-e72f09904209	0e05f7f5-f01b-479b-9dde-821a7ed463dd	g.chr15:93552546_93552547insG	ENST00000394196.4	+	35	5653_5654	c.4585_4586insG	c.(4585-4587)tggfs	p.W1529fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.W1529fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1529					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CATCAAACTCTGGAGGAGGTAA	0.495																																						uc002bsp.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47						c.(4585-4587)tggfs		Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93552546_93552547insG	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4587dupG	15.37:g.93552548_93552548dupG	ENSP00000377747:p.Trp1529fs					CHD2_uc002bso.1_Frame_Shift_Ins_p.W1529fs	p.W1529fs	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		34	5160_5161	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1529					C6G482|Q96IP5	Frame_Shift_Ins	INS	ENST00000394196.4	37	c.4585_4586insG	CCDS10374.2																																																																																				0.495	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		19	40						19	40	---	---	---	---
