#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
ENTPD8	377841	broad.mit.edu	37	9	140332516	140332516	+	Silent	SNP	C	C	A	rs531135716	byFrequency	TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr9:140332516C>A	ENST00000472938.1	-	2	163	c.147G>T	c.(145-147)gcG>gcT	p.A49A	ENTPD8_ENST00000344119.2_Silent_p.A49A|ENTPD8_ENST00000371506.2_Silent_p.A49A			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	49					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGGAGGAGCCCGCATCAAACA	0.647																																						uc004cmw.3																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(145-147)gcG>gcT		Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.							64.0	65.0	64.0					9																	140332516		2199	4300	6499	SO:0001819	synonymous_variant	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140332516C>A	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.147G>T	9.37:g.140332516C>A						ENTPD8_uc004cmx.3_Silent_p.A49A|ENTPD8_uc004cmy.2_Silent_p.A49A	p.A49A	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	2	331	-	all_cancers(76;0.0926)		49					A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.147G>T	CCDS43913.1																																																																																				0.647	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		3	40	0	0	0	1	0	3	40				
POLE	5426	broad.mit.edu	37	12	133218793	133218793	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr12:133218793C>G	ENST00000320574.5	-	38	5186	c.5143G>C	c.(5143-5145)Gag>Cag	p.E1715Q	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.E1688Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1715					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTGTTGATCTCAACAGTGGCT	0.557								DNA polymerases (catalytic subunits)																														uc001uks.1																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(5143-5145)Gag>Cag	DNA polymerases (catalytic subunits)	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.							117.0	118.0	118.0					12																	133218793		2203	4300	6503	SO:0001583	missense	5426				DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding	g.chr12:133218793C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5143G>C	12.37:g.133218793C>G	ENSP00000322570:p.Glu1715Gln					POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.E519Q|POLE_uc010tbq.1_Non-coding_Transcript	p.E1715Q	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	37	5187	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1715					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.5143G>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207838	0.58343	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.22336	1.96;1.96;1.96	5.43	5.43	0.79202	DNA polymerase epsilon, catalytic subunit A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	M	0.75447	2.3	0.58432	D	0.999999	P	0.42871	0.792	B	0.43194	0.411	T	0.09707	-1.0662	10	0.14656	T	0.56	.	19.2593	0.93961	0.0:1.0:0.0:0.0	.	1715	Q07864	DPOE1_HUMAN	Q	1715;1726;1688	ENSP00000322570:E1715Q;ENSP00000406383:E1726Q;ENSP00000445753:E1688Q	ENSP00000322570:E1715Q	E	-	1	0	POLE	131728866	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	7.405000	0.80007	2.557000	0.86248	0.655000	0.94253	GAG		0.557	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		5	237	0	0	0	1	0	5	237				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	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		45	82	0	0	0	1	0	45	82				
FAM208A	23272	broad.mit.edu	37	3	56681126	56681126	+	Missense_Mutation	SNP	C	C	A	rs144722652	byFrequency	TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr3:56681126C>A	ENST00000493960.2	-	14	1649	c.1639G>T	c.(1639-1641)Gcc>Tcc	p.A547S	FAM208A_ENST00000431842.2_Missense_Mutation_p.A151S|FAM208A_ENST00000355628.5_Missense_Mutation_p.A547S	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	547							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AAATTTATGGCGCTTATATTT	0.328																																						uc003did.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(1639-1641)Gcc>Tcc		Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.							40.0	44.0	43.0					3																	56681126		2196	4295	6491	SO:0001583	missense	23272							g.chr3:56681126C>A	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.1639G>T	3.37:g.56681126C>A	ENSP00000417509:p.Ala547Ser					FAM208A_uc003dic.4_Missense_Mutation_p.A151S|FAM208A_uc003die.4_Missense_Mutation_p.A547S	p.A547S	NM_015224	NP_056039	Q9UK61	CC063_HUMAN			13	1740	-			547					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.1639G>T	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	C	4.884	0.164362	0.09287	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.11169	2.8;2.98;2.98	5.38	2.98	0.34508	.	0.382752	0.25211	N	0.032305	T	0.03477	0.0100	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.45366	-0.9266	10	0.06365	T	0.9	-2.2419	6.8896	0.24222	0.0:0.136:0.1272:0.7368	.	547;547;151	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	S	151;547;547	ENSP00000399410:A151S;ENSP00000417509:A547S;ENSP00000347845:A547S	ENSP00000347845:A547S	A	-	1	0	C3orf63	56656166	0.997000	0.39634	0.992000	0.48379	0.913000	0.54294	0.924000	0.28777	0.478000	0.27488	-0.238000	0.12139	GCC		0.328	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		3	65	0	0	0	1	0	3	65				
BDP1	55814	broad.mit.edu	37	5	70840993	70840993	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:70840993C>T	ENST00000358731.4	+	32	6954	c.6691C>T	c.(6691-6693)Ccc>Tcc	p.P2231S	BDP1_ENST00000380675.2_Missense_Mutation_p.P367S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2231					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TGTTGAAGAGCCCCAGATAAA	0.468																																						uc003kbp.1																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(6691-6693)Ccc>Tcc		Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.							115.0	107.0	109.0					5																	70840993		1846	4102	5948	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70840993C>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.6691C>T	5.37:g.70840993C>T	ENSP00000351575:p.Pro2231Ser					BDP1_uc003kbo.3_Missense_Mutation_p.P2231S|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript	p.P2231S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	31	6954	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2231					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.6691C>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513164	0.27123	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.49720	3.6;0.77	4.45	-0.822	0.10819	.	0.848738	0.10487	N	0.668848	T	0.44953	0.1318	L	0.56769	1.78	0.09310	N	1	B;P	0.39326	0.221;0.668	B;B	0.39935	0.161;0.314	T	0.36578	-0.9742	10	0.56958	D	0.05	.	11.3565	0.49620	0.0:0.4328:0.4879:0.0793	.	2231;2231	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	S	2231;1779;367;367	ENSP00000351575:P2231S;ENSP00000370050:P367S	ENSP00000351575:P2231S	P	+	1	0	BDP1	70876749	0.001000	0.12720	0.002000	0.10522	0.062000	0.15995	-0.739000	0.04866	-0.607000	0.05738	-0.795000	0.03280	CCC		0.468	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		22	78	0	0	0	1	0	22	78				
SOX30	11063	broad.mit.edu	37	5	157078329	157078329	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:157078329G>A	ENST00000265007.6	-	1	1099	c.758C>T	c.(757-759)cCg>cTg	p.P253L	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.P253L	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	253					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to corticosteroid (GO:0031960)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCTGGTGCGGCCCAAAGGC	0.647																																					Esophageal Squamous(31;525 799 19355 21125 41744)	uc003lxb.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(757-759)cCg>cTg		Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.							42.0	45.0	44.0					5																	157078329		2203	4300	6503	SO:0001583	missense	11063				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr5:157078329G>A	AB022083	CCDS4339.1, CCDS4340.1	5q33	2010-10-21			ENSG00000039600	ENSG00000039600		"""SRY (sex determining region Y)-boxes"""	30635	protein-coding gene	gene with protein product		606698				15019997, 11678506	Standard	NM_178424		Approved		uc003lxb.1	O94993	OTTHUMG00000130247	ENST00000265007.6:c.758C>T	5.37:g.157078329G>A	ENSP00000265007:p.Pro253Leu					SOX30_uc003lxc.1_Missense_Mutation_p.P253L|SOX30_uc011dds.1_Intron	p.P253L	NM_178424	NP_848511	O94993	SOX30_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		0	1100	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	253					O94995|Q8IYX6	Missense_Mutation	SNP	ENST00000265007.6	37	c.758C>T	CCDS4339.1	.	.	.	.	.	.	.	.	.	.	G	9.574	1.121787	0.20877	.	.	ENSG00000039600	ENST00000311371;ENST00000265007	D;D	0.97959	-4.63;-4.24	5.18	2.38	0.29361	.	0.538685	0.17001	N	0.190915	D	0.93393	0.7893	L	0.29908	0.895	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.06405	0.002;0.001	D	0.87469	0.2413	10	0.62326	D	0.03	.	5.2346	0.15439	0.2285:0.0:0.6248:0.1467	.	253;253	O94993-2;O94993	.;SOX30_HUMAN	L	253	ENSP00000309343:P253L;ENSP00000265007:P253L	ENSP00000265007:P253L	P	-	2	0	SOX30	157010907	0.001000	0.12720	0.505000	0.27651	0.653000	0.38743	0.690000	0.25451	0.559000	0.29153	0.460000	0.39030	CCG		0.647	SOX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252571.2	NM_007017		3	42	0	0	0	1	0	3	42				
G2E3	55632	broad.mit.edu	37	14	31061616	31061616	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr14:31061616C>G	ENST00000206595.6	+	5	479	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.Q139E|G2E3_ENST00000438909.2_Missense_Mutation_p.Q63E	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	109					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATGTGGACTTCAGAGAGAATG	0.353																																						uc001wqk.2																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(325-327)Cag>Gag		Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.							119.0	114.0	116.0					14																	31061616		2203	4300	6503	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31061616C>G	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.325C>G	14.37:g.31061616C>G	ENSP00000206595:p.Gln109Glu					G2E3_uc010tpe.1_Missense_Mutation_p.Q63E|G2E3_uc010tpf.1_Missense_Mutation_p.Q63E	p.Q109E	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			4	479	+			109					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.325C>G	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	C	7.070	0.568079	0.13560	.	.	ENSG00000092140	ENST00000206595;ENST00000550944;ENST00000438909;ENST00000553504;ENST00000554714;ENST00000547532	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.93	1.88	0.25563	Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);	0.317699	0.39274	N	0.001406	T	0.39489	0.1080	N	0.02854	-0.475	0.34876	D	0.744052	B;B	0.25772	0.01;0.134	B;B	0.23574	0.02;0.047	T	0.32322	-0.9911	10	0.15066	T	0.55	-1.4209	14.7519	0.69533	0.1141:0.3309:0.555:0.0	.	63;109	B4DIF9;Q7L622	.;G2E3_HUMAN	E	109;109;63;139;109;109	ENSP00000206595:Q109E;ENSP00000448745:Q109E;ENSP00000391068:Q63E;ENSP00000451653:Q139E;ENSP00000451147:Q109E;ENSP00000446615:Q109E	ENSP00000206595:Q109E	Q	+	1	0	G2E3	30131367	0.897000	0.30589	0.998000	0.56505	0.969000	0.65631	0.276000	0.18716	0.070000	0.16634	-1.211000	0.01629	CAG		0.353	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		3	76	0	0	0	1	0	3	76				
C2orf42	54980	broad.mit.edu	37	2	70408980	70408980	+	Silent	SNP	T	T	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr2:70408980T>A	ENST00000264434.2	-	3	517	c.138A>T	c.(136-138)acA>acT	p.T46T	C2orf42_ENST00000420306.1_Silent_p.T46T|C2orf42_ENST00000470096.1_5'UTR	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	46										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGGTTCCACATGTCTTGTTCT	0.493																																						uc002sgh.3																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(136-138)acA>acT		Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.							160.0	120.0	133.0					2																	70408980		2203	4300	6503	SO:0001819	synonymous_variant	54980							g.chr2:70408980T>A	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.138A>T	2.37:g.70408980T>A							p.T46T	NM_017880	NP_060350	Q9NWW7	CB042_HUMAN			2	466	-			46					D6W5G3|Q9H629	Silent	SNP	ENST00000264434.2	37	c.138A>T	CCDS1899.1																																																																																				0.493	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		4	145	0	0	0	1	0	4	145				
FGD5	152273	broad.mit.edu	37	3	14861821	14861821	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr3:14861821G>A	ENST00000285046.5	+	1	1353	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	FGD5_ENST00000543601.1_Missense_Mutation_p.V174I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	415					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGATGTGGTGGTCGTGCTGGA	0.682																																						uc003bzc.3																			0				NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						c.(1243-1245)Gtc>Atc		Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.							25.0	30.0	28.0					3																	14861821		2055	4179	6234	SO:0001583	missense	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	g.chr3:14861821G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1243G>A	3.37:g.14861821G>A	ENSP00000285046:p.Val415Ile					FGD5_uc011avk.2_Missense_Mutation_p.V415I	p.V415I	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			0	1353	+			415					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	c.1243G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806213	0.31961	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.76709	-1.04;-0.98	5.03	2.87	0.33458	.	0.377412	0.22446	N	0.059959	T	0.58779	0.2146	N	0.20986	0.625	0.22811	N	0.99871	B;B	0.28512	0.214;0.214	B;B	0.20767	0.031;0.031	T	0.42832	-0.9428	10	0.22109	T	0.4	-30.7446	8.3469	0.32279	0.3329:0.0:0.6671:0.0	.	174;415	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	I	415;174	ENSP00000285046:V415I;ENSP00000445949:V174I	ENSP00000285046:V415I	V	+	1	0	FGD5	14836825	0.041000	0.20044	0.441000	0.26858	0.113000	0.19764	0.846000	0.27682	1.116000	0.41820	0.591000	0.81541	GTC		0.682	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		3	54	0	0	0	1	0	3	54				
MKL2	57496	broad.mit.edu	37	16	14304130	14304130	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr16:14304130C>T	ENST00000341243.5	+	2	152	c.152C>T	c.(151-153)aCg>aTg	p.T51M	MKL2_ENST00000572567.1_Missense_Mutation_p.T51M|MKL2_ENST00000318282.5_Missense_Mutation_p.T62M|MKL2_ENST00000573051.1_Missense_Mutation_p.T11M|MKL2_ENST00000571589.1_Missense_Mutation_p.T62M|MKL2_ENST00000574045.1_Missense_Mutation_p.T62M			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	51					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAAGGAGGACGAGAGAACAA	0.483																																						uc010uza.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(184-186)aCg>aTg		Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.							174.0	135.0	148.0					16																	14304130		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14304130C>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.152C>T	16.37:g.14304130C>T	ENSP00000345841:p.Thr51Met					MKL2_uc002dcg.3_Missense_Mutation_p.T62M|MKL2_uc002dch.3_Missense_Mutation_p.T51M|MKL2_uc010uzb.2_Missense_Mutation_p.T11M	p.T62M	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			3	340	+			51					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000341243.5	37	c.185C>T		.	.	.	.	.	.	.	.	.	.	c	21.7	4.193636	0.78902	.	.	ENSG00000186260	ENST00000318282;ENST00000389126;ENST00000341243	D;D	0.99857	-7.22;-7.22	5.41	5.41	0.78517	.	0.102463	0.64402	D	0.000003	D	0.99854	0.9932	M	0.81341	2.54	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	D	0.96746	0.9550	10	0.87932	D	0	-17.4756	18.5536	0.91075	0.0:1.0:0.0:0.0	.	11;62;51;62	Q9ULH7-2;B4DGT8;Q9ULH7;Q9ULH7-4	.;.;MKL2_HUMAN;.	M	62;51;51	ENSP00000339086:T62M;ENSP00000345841:T51M	ENSP00000339086:T62M	T	+	2	0	MKL2	14211631	1.000000	0.71417	0.984000	0.44739	0.980000	0.70556	7.568000	0.82369	2.689000	0.91719	0.655000	0.94253	ACG		0.483	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		5	116	0	0	0	1	0	5	116				
NIPBL	25836	broad.mit.edu	37	5	36985887	36985887	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr5:36985887A>G	ENST00000282516.8	+	10	3104	c.2605A>G	c.(2605-2607)Aaa>Gaa	p.K869E	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.K869E	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	869					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTAGAACGAAAACACAGGCA	0.398																																						uc003jkl.4																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(2605-2607)Aaa>Gaa		Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.							48.0	48.0	48.0					5																	36985887		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36985887A>G	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2605A>G	5.37:g.36985887A>G	ENSP00000282516:p.Lys869Glu					NIPBL_uc003jkk.4_Missense_Mutation_p.K869E|NIPBL_uc003jkm.1_Missense_Mutation_p.K748E	p.K869E	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	3104	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		869					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.2605A>G	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554454	0.45487	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93547	-3.24;-3.24	5.99	5.99	0.97316	.	0.141960	0.51477	D	0.000096	D	0.90345	0.6979	N	0.24115	0.695	0.47094	D	0.999312	P;P	0.50156	0.888;0.932	B;P	0.48571	0.378;0.582	D	0.88663	0.3190	10	0.19147	T	0.46	-17.1723	16.4943	0.84223	1.0:0.0:0.0:0.0	.	869;869	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	E	869	ENSP00000282516:K869E;ENSP00000406266:K869E	ENSP00000282516:K869E	K	+	1	0	NIPBL	37021644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.780000	0.62382	2.291000	0.77112	0.533000	0.62120	AAA		0.398	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		7	75	0	0	0	1	0	7	75				
NLGN4Y	22829	broad.mit.edu	37	Y	16734111	16734111	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chrY:16734111C>G	ENST00000297967.5	+	1	211	c.112C>G	c.(112-114)Ctc>Gtc	p.L38V	NLGN4Y_ENST00000476359.1_3'UTR	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked	38					learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CAAGTTCACCCTCATTGACAG	0.463																																						uc011nas.1																			0				large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						c.(112-114)Ctc>Gtc		Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.																																				SO:0001583	missense	22829				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrY:16734111C>G		CCDS14788.1, CCDS55553.1, CCDS56619.1	Yq11.221	2013-09-20	2004-05-21		ENSG00000165246	ENSG00000165246			15529	protein-coding gene	gene with protein product		400028	"""neuroligin 4, Y linked"""			10231032	Standard	NM_014893		Approved	KIAA0951	uc004ftg.2	Q8NFZ3	OTTHUMG00000036618	ENST00000297967.5:c.112C>G	Y.37:g.16734111C>G	ENSP00000297967:p.Leu38Val					NLGN4Y_uc004fte.2_Intron|NLGN4Y_uc004ftg.2_Missense_Mutation_p.L38V|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Missense_Mutation_p.L38V|NLGN4Y_uc004fti.4_Missense_Mutation_p.L38V	p.L38V	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN			1	291	+			38					F5H6W0|Q14D08|Q7Z3T5|Q8N5B6|Q9Y2F8	Missense_Mutation	SNP	ENST00000297967.5	37	c.112C>G	CCDS55553.1																																																																																				0.463	NLGN4Y-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014893		5	66	0	0	0	1	0	5	66				
MYO1B	4430	broad.mit.edu	37	2	192234339	192234339	+	Silent	SNP	C	C	A			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr2:192234339C>A	ENST00000392318.3	+	12	1351	c.1104C>A	c.(1102-1104)atC>atA	p.I368I	MYO1B_ENST00000392316.1_Silent_p.I368I|RNU6-1045P_ENST00000516321.1_RNA|MYO1B_ENST00000339514.4_Silent_p.I368I|MYO1B_ENST00000304164.4_Silent_p.I368I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	368	Myosin motor.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TAAATCGAATCAATGAAAGCA	0.299																																						uc010fsg.2																			0		p.R367*(2)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(1102-1104)atC>atA		Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.							70.0	70.0	70.0					2																	192234339		2203	4300	6503	SO:0001819	synonymous_variant	4430					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	g.chr2:192234339C>A	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.1104C>A	2.37:g.192234339C>A						MYO1B_uc002usq.2_Silent_p.I368I|MYO1B_uc002usr.2_Silent_p.I368I	p.I368I	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		11	1359	+			368			Myosin head-like.		O43794|Q7Z6L5	Silent	SNP	ENST00000392318.3	37	c.1104C>A	CCDS46477.1																																																																																				0.299	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223		4	106	0	0	0	1	0	4	106				
NADSYN1	55191	broad.mit.edu	37	11	71185490	71185490	+	Missense_Mutation	SNP	G	G	A	rs199672894		TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr11:71185490G>A	ENST00000319023.2	+	9	904	c.716G>A	c.(715-717)cGc>cAc	p.R239H	NADSYN1_ENST00000539574.1_5'Flank	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	239	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	GACGGGGACCGCCTGTACTAC	0.562																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(715-717)cGc>cAc		Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						137.0	120.0	126.0					11																	71185490		2200	4294	6494	SO:0001583	missense	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding	g.chr11:71185490G>A	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.716G>A	11.37:g.71185490G>A	ENSP00000326424:p.Arg239His					NADSYN1_uc001oqm.3_Non-coding_Transcript|NADSYN1_uc001oqo.3_5'UTR	p.R239H	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			8	842	+			239			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	ENST00000319023.2	37	c.716G>A	CCDS8201.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034868	0.93575	.	.	ENSG00000172890	ENST00000319023	D	0.86297	-2.1	4.7	4.7	0.59300	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.96153	0.9109	10	0.66056	D	0.02	-27.7658	15.1483	0.72677	0.0:0.0:1.0:0.0	.	239	Q6IA69	NADE_HUMAN	H	239	ENSP00000326424:R239H	ENSP00000326424:R239H	R	+	2	0	NADSYN1	70863138	1.000000	0.71417	0.950000	0.38849	0.906000	0.53458	8.541000	0.90644	2.139000	0.66308	0.561000	0.74099	CGC		0.562	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		8	122	0	0	0	1	0	8	122				
PLEKHA6	22874	broad.mit.edu	37	1	204192635	204192635	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E3-A3DY-01A-11D-A20C-08	TCGA-E3-A3DY-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4b3f8a-7f25-4f3b-8858-3ef0171dd446	f0611285-bed3-4543-a8ce-0e78419d38b5	g.chr1:204192635delG	ENST00000272203.3	-	22	3426	c.3110delC	c.(3109-3111)ccafs	p.P1037fs	PLEKHA6_ENST00000414478.1_Frame_Shift_Del_p.P1057fs	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	1037										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGCCCCGTGGGGATTCAGA	0.592																																						uc001hau.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3109-3111)ccafs		Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.							20.0	20.0	20.0					1																	204192635		2056	3997	6053	SO:0001589	frameshift_variant	22874							g.chr1:204192635delG	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.3110delC	1.37:g.204192635delG	ENSP00000272203:p.Pro1037fs						p.P1037fs	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		21	3427	-	all_cancers(21;0.0222)|Breast(84;0.179)		1037					A7MD51|Q5VTI6	Frame_Shift_Del	DEL	ENST00000272203.3	37	c.3110delC	CCDS1444.1																																																																																				0.592	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		2	4						2	4	---	---	---	---
