#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
BRWD3	254065	genome.wustl.edu	37	X	79988964	79988964	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chrX:79988964T>C	ENST00000373275.4	-	12	1334	c.1118A>G	c.(1117-1119)aAt>aGt	p.N373S		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	373					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCTGTCTCCATTGTTACAGAA	0.308																																						dbGAP											0			X											98.0	88.0	91.0					X																	79988964		2203	4296	6499	79875620	SO:0001583	missense	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1118A>G	X.37:g.79988964T>C	ENSP00000362372:p.Asn373Ser	Somatic	151	8.98	15		0	96.88	31	WXS	Illumina HiSeq	Phase_IV	79875620	47	44.05	37	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.N373S	ENST00000373275.4	37	c.1118	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	T	4.888	0.165008	0.09339	.	.	ENSG00000165288	ENST00000373275	T	0.58797	0.31	4.29	4.29	0.51040	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.109275	0.64402	D	0.000013	T	0.39572	0.1083	N	0.13140	0.3	0.42183	D	0.991698	B	0.18013	0.025	B	0.24701	0.055	T	0.20940	-1.0260	9	.	.	.	-11.9019	12.8543	0.57876	0.0:0.0:0.0:1.0	.	373	Q6RI45	BRWD3_HUMAN	S	373	ENSP00000362372:N373S	.	N	-	2	0	BRWD3	79875620	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.373000	0.59537	1.602000	0.50124	0.339000	0.21740	AAT	-	HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40		0.308	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	protein_coding	OTTHUMT00000057344.1	T	NM_153252		79875620	-1	no_errors	NM_153252.3	genbank	human	validated	54_36p	missense	SNP	1.000	C
NRAS	4893	genome.wustl.edu	37	1	115258747	115258747	+	Missense_Mutation	SNP	C	C	T	rs121913237		TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr1:115258747C>T	ENST00000369535.4	-	2	288	c.35G>A	c.(34-36)gGt>gAt	p.G12D	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	12			G -> C (in leukemia). {ECO:0000269|PubMed:2998510}.|G -> D (in KNEN). {ECO:0000269|PubMed:22499344}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(375)|p.G12V(59)|p.G12A(42)|p.G12N(2)|p.G12E(1)|p.G12P(1)|p.G12Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAACACCACCTGCTCCAAC	0.493	G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	481	Substitution - Missense(481)	haematopoietic_and_lymphoid_tissue(375)|skin(59)|large_intestine(21)|testis(5)|thyroid(4)|central_nervous_system(3)|endometrium(3)|biliary_tract(3)|ovary(3)|soft_tissue(2)|lung(2)|prostate(1)	1						C	ASP/GLY	0,4406		0,0,2203	206.0	184.0	191.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	35	5.6	1.0	1	dbSNP_133	191	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRAS	NM_002524.4	94	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/190	115258747	1,13005	2203	4300	6503	115060270	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.35G>A	1.37:g.115258747C>T	ENSP00000358548:p.Gly12Asp	Somatic	123	7.41	10		29	42.00	21	WXS	Illumina HiSeq	Phase_IV	115060270	54	42.71	41	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G12D	ENST00000369535.4	37	c.35	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.524414	0.96431	0.0	1.16E-4	ENSG00000213281	ENST00000369535	T	0.78595	-1.19	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000025	D	0.85252	0.5654	M	0.92604	3.325	0.80722	D	1	B	0.32467	0.372	B	0.42827	0.399	D	0.86173	0.1601	10	0.87932	D	0	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	12	P01111	RASN_HUMAN	D	12	ENSP00000358548:G12D	ENSP00000358548:G12D	G	-	2	0	NRAS	115060270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.493	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	C	NM_002524		115060270	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TMEM18	129787	genome.wustl.edu	37	2	677320	677320	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr2:677320G>C	ENST00000281017.3	-	1	119	c.26C>G	c.(25-27)tCt>tGt	p.S9C	TMEM18_ENST00000355654.2_5'Flank|TMEM18_ENST00000405941.3_5'Flank|AC092159.2_ENST00000435573.1_RNA|AC092159.2_ENST00000445418.1_RNA	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	9					cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GACGGGGAAAGAGCTGACAGA	0.662																																						dbGAP											0			2											53.0	39.0	44.0					2																	677320		2203	4300	6503	667320	SO:0001583	missense	0			AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.26C>G	2.37:g.677320G>C	ENSP00000281017:p.Ser9Cys	Somatic	44	8.16	4		12	47.83	11	WXS	Illumina HiSeq	Phase_IV	667320	23	46.51	20	D6W4X9|Q8N5H2|Q9NTH3	Missense_Mutation	SNP	NULL	p.S9C	ENST00000281017.3	37	c.26	CCDS33141.1	2	.	.	.	.	.	.	.	.	.	.	G	3.114	-0.182105	0.06340	.	.	ENSG00000151353	ENST00000281017	.	.	.	3.43	-0.749	0.11084	.	2.992620	0.00870	N	0.002006	T	0.33000	0.0848	L	0.56769	1.78	0.09310	N	0.999994	P	0.36249	0.545	B	0.35073	0.195	T	0.18178	-1.0345	9	0.56958	D	0.05	.	1.9122	0.03290	0.1082:0.1711:0.3708:0.3499	.	9	Q96B42	TMM18_HUMAN	C	9	.	ENSP00000281017:S9C	S	-	2	0	TMEM18	667320	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.252000	0.08806	-0.169000	0.10834	0.585000	0.79938	TCT	-	NULL		0.662	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM18	protein_coding	OTTHUMT00000322427.1	G	NM_152834		667320	-1	no_errors	NM_152834.2	genbank	human	validated	54_36p	missense	SNP	0.002	C
DNMT3A	1788	genome.wustl.edu	37	2	25463529	25463529	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr2:25463529G>A	ENST00000264709.3	-	18	2490	c.2153C>T	c.(2152-2154)cCt>cTt	p.P718L	DNMT3A_ENST00000321117.5_Missense_Mutation_p.P718L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.P529L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.P495L|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	718	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGCGAGCAGGGTTGACGAT	0.582			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											149.0	123.0	132.0					2																	25463529		2203	4300	6503	25317033	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2153C>T	2.37:g.25463529G>A	ENSP00000264709:p.Pro718Leu	Somatic	28	15.15	5		1	98.51	132	WXS	Illumina HiSeq	Phase_IV	25317033	1	93.33	14	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.P718L	ENST00000264709.3	37	c.2153	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449621	0.84101	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.97745	0.9260	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97978	1.0347	10	0.87932	D	0	-3.4991	12.4181	0.55504	0.0816:0.0:0.9184:0.0	.	718;529	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	L	529;718;718;495	ENSP00000370122:P529L;ENSP00000324375:P718L;ENSP00000264709:P718L;ENSP00000384237:P495L	ENSP00000264709:P718L	P	-	2	0	DNMT3A	25317033	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.924000	0.87555	2.613000	0.88420	0.555000	0.69702	CCT	-	HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.582	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25317033	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PRKD3	23683	genome.wustl.edu	37	2	37480342	37480342	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr2:37480342T>C	ENST00000379066.1	-	19	3413	c.2651A>G	c.(2650-2652)gAt>gGt	p.D884G	PRKD3_ENST00000234179.2_Missense_Mutation_p.D884G			O94806	KPCD3_HUMAN	protein kinase D3	884					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTCCATATCATCTGGATTAGG	0.363																																					Melanoma(80;621 1355 8613 11814 51767)	dbGAP											0			2											172.0	163.0	166.0					2																	37480342		2203	4300	6503	37333846	SO:0001583	missense	0			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.2651A>G	2.37:g.37480342T>C	ENSP00000368356:p.Asp884Gly	Somatic	122	7.46	10		42	51.72	45	WXS	Illumina HiSeq	Phase_IV	37333846	76	50.65	78	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	HMMSmart_SM00219,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_PH domain-like,superfamily_Cysteine-rich domain	p.D884G	ENST00000379066.1	37	c.2651	CCDS1789.1	2	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196603	0.58126	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.67171	-0.25;-0.25	5.83	5.83	0.93111	.	0.155859	0.43416	D	0.000565	T	0.56877	0.2015	L	0.29908	0.895	0.53005	D	0.999968	B	0.25105	0.118	B	0.18871	0.023	T	0.55811	-0.8082	10	0.59425	D	0.04	-18.7095	16.1946	0.82018	0.0:0.0:0.0:1.0	.	884	O94806	KPCD3_HUMAN	G	884	ENSP00000368356:D884G;ENSP00000234179:D884G	ENSP00000234179:D884G	D	-	2	0	PRKD3	37333846	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.186000	0.72026	2.228000	0.72767	0.528000	0.53228	GAT	-	NULL		0.363	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	protein_coding	OTTHUMT00000218570.3	T	NM_005813		37333846	-1	no_errors	NM_005813.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81.0	74.0	76.0					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	Somatic	56	14.49	10		35	60.67	54	WXS	Illumina HiSeq	Phase_IV	208821358	22	47.62	20	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TMEM108	66000	genome.wustl.edu	37	3	133114756	133114756	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr3:133114756A>T	ENST00000321871.6	+	6	1864	c.1654A>T	c.(1654-1656)Act>Tct	p.T552S	TMEM108_ENST00000393130.3_Missense_Mutation_p.T552S|TMEM108_ENST00000508711.1_Missense_Mutation_p.T82S	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	552						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTATAGAGACACTGGGATGGT	0.517																																						dbGAP											0			3											123.0	115.0	118.0					3																	133114756		2203	4300	6503	134597446	SO:0001583	missense	0			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1654A>T	3.37:g.133114756A>T	ENSP00000324651:p.Thr552Ser	Somatic	48	5.88	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	134597446	19	47.22	17	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	PatternScan_TONB_DEPENDENT_REC_1	p.T552S	ENST00000321871.6	37	c.1654	CCDS33858.1	3	.	.	.	.	.	.	.	.	.	.	A	14.49	2.549747	0.45383	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000508711	T;T	0.38240	1.15;1.15	5.72	3.28	0.37604	.	0.145945	0.39544	N	0.001325	T	0.23926	0.0579	L	0.31926	0.97	0.80722	D	1	B;B	0.24317	0.0;0.101	B;B	0.17433	0.0;0.018	T	0.04693	-1.0933	10	0.15499	T	0.54	-10.9644	10.3079	0.43691	0.8649:0.0:0.1351:0.0	.	82;552	B3KT64;Q6UXF1	.;TM108_HUMAN	S	552;552;82	ENSP00000324651:T552S;ENSP00000376838:T552S	ENSP00000324651:T552S	T	+	1	0	TMEM108	134597446	1.000000	0.71417	0.969000	0.41365	0.943000	0.58893	5.512000	0.67030	0.419000	0.25927	0.459000	0.35465	ACT	-	NULL		0.517	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	protein_coding	OTTHUMT00000356907.2	A	NM_023943		134597446	+1	no_errors	NM_023943.1	genbank	human	validated	54_36p	missense	SNP	1.000	T
LAMA2	3908	genome.wustl.edu	37	6	129704366	129704366	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr6:129704366C>T	ENST00000421865.2	+	35	5108	c.5059C>T	c.(5059-5061)Cgg>Tgg	p.R1687W		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1687	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R1687W(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGAGCTTGCCCGGGATGCAGA	0.458																																						dbGAP											1	Substitution - Missense(1)	breast(1)	6											70.0	74.0	72.0					6																	129704366		2203	4300	6503	129746059	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5059C>T	6.37:g.129704366C>T	ENSP00000400365:p.Arg1687Trp	Somatic	55	5.17	3		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	129746059	30	40.38	21	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	HMMPfam_Laminin_B,HMMSmart_LamG,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Gal_bind_like,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_LamB,superfamily_SSF56399,superfamily_SSF57196	p.R1687W	ENST00000421865.2	37	c.5059	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596309	0.66332	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.10860	2.83	5.55	4.66	0.58398	Laminin I (1);	0.673372	0.15157	N	0.277407	T	0.03959	0.0111	N	0.08118	0	0.28872	N	0.894874	P;P	0.52170	0.951;0.951	P;P	0.46585	0.498;0.521	T	0.28235	-1.0050	10	0.66056	D	0.02	.	15.973	0.80034	0.1359:0.8641:0.0:0.0	.	1687;1687	A6NF00;P24043	.;LAMA2_HUMAN	W	1687	ENSP00000400365:R1687W	ENSP00000346769:R1687W	R	+	1	2	LAMA2	129746059	0.918000	0.31147	0.438000	0.26821	0.949000	0.60115	4.004000	0.57068	1.435000	0.47434	0.563000	0.77884	CGG	-	superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I		0.458	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	protein_coding	OTTHUMT00000042180.1	C			129746059	+1	no_errors	NM_000426.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
EZH2	2146	genome.wustl.edu	37	7	148506443	148506443	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr7:148506443C>T	ENST00000460911.1	-	18	2142	c.2054G>A	c.(2053-2055)cGt>cAt	p.R685H	EZH2_ENST00000476773.1_Missense_Mutation_p.R634H|EZH2_ENST00000320356.2_Missense_Mutation_p.R690H|EZH2_ENST00000541220.1_Missense_Mutation_p.R634H|EZH2_ENST00000350995.2_Missense_Mutation_p.R646H|EZH2_ENST00000483967.1_Missense_Mutation_p.R676H|EZH2_ENST00000478654.1_Missense_Mutation_p.R634H			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	685	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.		R -> H (in a patient with chronic myelomonocytic leukemia). {ECO:0000269|PubMed:21828135}.		cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R690H(7)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATTTGCAAAACGAATTTTGTT	0.383			Mis		DLBCL																																	dbGAP		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	7	Substitution - Missense(7)	haematopoietic_and_lymphoid_tissue(7)	7											121.0	120.0	120.0					7																	148506443		2203	4300	6503	148137376	SO:0001583	missense	0				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.2054G>A	7.37:g.148506443C>T	ENSP00000419711:p.Arg685His	Somatic	84	10.64	10		1	96.55	28	WXS	Illumina HiSeq	Phase_IV	148137376	3	93.33	42	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	HMMSmart_SANT,HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199	p.R690H	ENST00000460911.1	37	c.2069	CCDS56516.1	7	.	.	.	.	.	.	.	.	.	.	c	34	5.327377	0.95708	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.94417	-3.42;-1.36;-1.36;-1.36;-3.42;-3.42;-1.36	5.13	5.13	0.70059	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.998;0.996;0.997;0.938	D	0.98173	1.0453	10	0.87932	D	0	.	18.5938	0.91223	0.0:1.0:0.0:0.0	.	676;634;685;646;690	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	H	634;690;685;646;634;634;676	ENSP00000417062:R634H;ENSP00000320147:R690H;ENSP00000419711:R685H;ENSP00000223193:R646H;ENSP00000443219:R634H;ENSP00000419050:R634H;ENSP00000419856:R676H	ENSP00000320147:R690H	R	-	2	0	EZH2	148137376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.574000	0.82434	2.375000	0.81037	0.655000	0.94253	CGT	-	HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199		0.383	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	protein_coding	OTTHUMT00000352744.1	C	NM_004456		148137376	-1	no_errors	NM_004456.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
DYNC2H1	79659	genome.wustl.edu	37	11	103039545	103039545	+	Silent	SNP	T	T	C			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr11:103039545T>C	ENST00000375735.2	+	32	4968	c.4824T>C	c.(4822-4824)gaT>gaC	p.D1608D	DYNC2H1_ENST00000398093.3_Silent_p.D1608D|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1608	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATAATATTGATGTGGTAAAGC	0.338																																						dbGAP											0			11											83.0	80.0	81.0					11																	103039545		1824	4086	5910	102544755	SO:0001819	synonymous_variant	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4824T>C	11.37:g.103039545T>C		Somatic	60	10.45	7		0	100.00	1	WXS	Illumina HiSeq	Phase_IV	102544755	41	45.33	34	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.D1608	ENST00000375735.2	37	c.4824	CCDS53701.1	11																																																																																			-	NULL		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	T	XM_370652		102544755	+1	no_errors	NM_001080463.1	genbank	human	provisional	54_36p	silent	SNP	0.999	C
ACAT1	38	genome.wustl.edu	37	11	108009744	108009744	+	Silent	SNP	T	T	G			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr11:108009744T>G	ENST00000265838.4	+	6	646	c.555T>G	c.(553-555)acT>acG	p.T185T		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	185					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	ACGGGCTAACTGATGTCTACA	0.343																																						dbGAP											0			11											155.0	149.0	151.0					11																	108009744		2201	4298	6499	107514954	SO:0001819	synonymous_variant	0			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.555T>G	11.37:g.108009744T>G		Somatic	98	6.60	7		62	40.38	42	WXS	Illumina HiSeq	Phase_IV	107514954	53	49.04	51	B2R6H1|G3XAB4|Q96FG8	Silent	SNP	HMMPfam_Thiolase_N,HMMPfam_Thiolase_C,PatternScan_THIOLASE_1,PatternScan_THIOLASE_3,PatternScan_THIOLASE_2,superfamily_Thiolase-like	p.T185	ENST00000265838.4	37	c.555	CCDS8339.1	11	.	.	.	.	.	.	.	.	.	.	T	0.870	-0.732463	0.03135	.	.	ENSG00000075239	ENST00000528370	.	.	.	5.74	-6.73	0.01749	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.2706	4.9656	0.14089	0.242:0.47:0.09:0.198	.	.	.	.	G	121	.	.	X	+	1	0	ACAT1	107514954	0.000000	0.05858	0.825000	0.32803	0.125000	0.20455	-2.009000	0.01455	-1.168000	0.02776	-0.982000	0.02568	TGA	-	HMMPfam_Thiolase_N,superfamily_Thiolase-like		0.343	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT1	protein_coding	OTTHUMT00000389474.1	T	NM_000019		107514954	+1	no_errors	NM_000019.3	genbank	human	reviewed	54_36p	silent	SNP	0.739	G
FGD6	55785	genome.wustl.edu	37	12	95603880	95603880	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr12:95603880C>T	ENST00000343958.4	-	2	1403	c.1180G>A	c.(1180-1182)Gca>Aca	p.A394T	FGD6_ENST00000546711.1_Missense_Mutation_p.A394T|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000549499.1_Missense_Mutation_p.A394T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	394					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)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|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)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AAGTCCTGTGCATCACTGTTG	0.353																																						dbGAP											0			12											165.0	164.0	164.0					12																	95603880		2203	4300	6503	94128011	SO:0001583	missense	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1180G>A	12.37:g.95603880C>T	ENSP00000344446:p.Ala394Thr	Somatic	94	13.64	15		4	50.00	4	WXS	Illumina HiSeq	Phase_IV	94128011	85	42.57	63	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_FYVE,HMMSmart_SM00064,HMMPfam_PH,HMMSmart_SM00233,superfamily_FYVE/PHD zinc finger,PatternScan_C_TYPE_LECTIN_1,superfamily_PH domain-like	p.A394T	ENST00000343958.4	37	c.1180	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.855398	0.00558	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.67171	-0.15;-0.25;-0.17	5.71	-5.09	0.02920	.	1.300580	0.05060	N	0.479673	T	0.38321	0.1036	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.20767	0.031	T	0.17806	-1.0357	10	0.15066	T	0.55	0.2809	5.2984	0.15764	0.0958:0.307:0.0762:0.521	.	394	Q6ZV73	FGD6_HUMAN	T	394	ENSP00000344446:A394T;ENSP00000450342:A394T;ENSP00000449005:A394T	ENSP00000344446:A394T	A	-	1	0	FGD6	94128011	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.758000	0.04766	-1.226000	0.02574	-2.658000	0.00147	GCA	-	NULL		0.353	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	protein_coding	OTTHUMT00000407600.1	C	NM_018351		94128011	-1	no_errors	NM_018351.3	genbank	human	validated	54_36p	missense	SNP	0.000	T
BDKRB2	624	genome.wustl.edu	37	14	96707223	96707223	+	Silent	SNP	G	G	A			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr14:96707223G>A	ENST00000306005.3	+	3	754	c.558G>A	c.(556-558)ctG>ctA	p.L186L	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.L186L|BDKRB2_ENST00000539359.1_Silent_p.L159L|BDKRB2_ENST00000542454.2_Silent_p.L159L	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	186					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	GGTGTACGCTGCTCCTGAGCT	0.607																																						dbGAP											0			14											106.0	94.0	98.0					14																	96707223		2203	4300	6503	95776976	SO:0001819	synonymous_variant	0			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.558G>A	14.37:g.96707223G>A		Somatic	21	4.55	1		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	95776976	14	62.50	25		Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.L186	ENST00000306005.3	37	c.558	CCDS9942.1	14																																																																																			-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.607	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB2	protein_coding	OTTHUMT00000413294.1	G			95776976	+1	no_errors	NM_000623.3	genbank	human	reviewed	54_36p	silent	SNP	0.046	A
CES1P1	51716	genome.wustl.edu	37	16	55801298	55801298	+	RNA	SNP	G	G	A			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr16:55801298G>A	ENST00000571348.1	+	0	325					NR_003276.2		Q9UKY3	CES1P_HUMAN	carboxylesterase 1 pseudogene 1						anatomical structure morphogenesis (GO:0009653)|metabolic process (GO:0008152)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)										ATCCCAAGGCGGGGCAGTTAA	0.488																																						dbGAP											0			16																																								54358799			0			AF106005		16q12.2	2013-07-10	2010-10-12	2010-10-12	ENSG00000228695	ENSG00000228695			18546	pseudogene	pseudogene			"""carboxylesterase 4-like"", ""carboxylesterase 4, pseudogene"""	CES4		10452915, 20931200	Standard	NR_003276		Approved	PCE-3, CESR, CES1A3	uc010cce.3	Q9UKY3	OTTHUMG00000154668		16.37:g.55801298G>A		Somatic	98	8.33	9		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	54358799	76	44.93	62	A2RRL8|B9ZVS2	RNA	SNP	-	NULL	ENST00000571348.1	37	NULL		16																																																																																			-	-		0.488	CES1P1-003	KNOWN	basic	processed_transcript	CES4	pseudogene	OTTHUMT00000440035.1	G	NR_003276		54358799	+1	pseudogene	NR_003276.2	genbank	human	validated	54_36p	rna	SNP	0.000	A
ABCC3	8714	genome.wustl.edu	37	17	48760974	48760974	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr17:48760974C>T	ENST00000285238.8	+	27	3891	c.3811C>T	c.(3811-3813)Ccc>Tcc	p.P1271S		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1271					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CTGCCAGGCGCCCTGGGTGGT	0.652																																						dbGAP											0			17											44.0	45.0	45.0					17																	48760974		2203	4300	6503	46115973	SO:0001583	missense	0			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3811C>T	17.37:g.48760974C>T	ENSP00000285238:p.Pro1271Ser	Somatic	95	8.65	9		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	46115973	17	56.41	22	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.P1271S	ENST00000285238.8	37	c.3811	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	c	15.64	2.894232	0.52121	.	.	ENSG00000108846	ENST00000285238	D	0.82803	-1.65	5.59	5.59	0.84812	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.88962	0.6580	L	0.46947	1.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88011	0.2762	10	0.45353	T	0.12	-33.1285	19.584	0.95484	0.0:1.0:0.0:0.0	.	1271	O15438	MRP3_HUMAN	S	1271	ENSP00000285238:P1271S	ENSP00000285238:P1271S	P	+	1	0	ABCC3	46115973	1.000000	0.71417	0.997000	0.53966	0.024000	0.10985	4.781000	0.62389	2.635000	0.89317	0.556000	0.70494	CCC	-	superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain		0.652	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	protein_coding	OTTHUMT00000368083.2	C	NM_020038		46115973	+1	no_errors	NM_003786.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CYP4F2	8529	genome.wustl.edu	37	19	16000324	16000324	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr19:16000324C>T	ENST00000221700.6	-	7	922	c.827G>A	c.(826-828)cGc>cAc	p.R276H	CYP4F2_ENST00000011989.7_Missense_Mutation_p.R127H	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.R276H(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGGAGAGTGCGGCGCCGCTC	0.572																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)	19											95.0	89.0	91.0					19																	16000324		2203	4300	6503	15861324	SO:0001583	missense	0			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.827G>A	19.37:g.16000324C>T	ENSP00000221700:p.Arg276His	Somatic	71	11.25	9		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	15861324	40	55.06	49		Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450	p.R276H	ENST00000221700.6	37	c.827	CCDS12336.1	19	.	.	.	.	.	.	.	.	.	.	c	8.551	0.875616	0.17395	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.69561	-0.41;-0.41	2.72	0.497	0.16902	.	0.937778	0.08750	U	0.899261	T	0.61299	0.2336	M	0.76727	2.345	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.13407	0.009;0.009	T	0.50931	-0.8769	10	0.33141	T	0.24	.	4.5696	0.12203	0.0:0.5483:0.0:0.4517	.	127;276	B4DV75;P78329	.;CP4F2_HUMAN	H	276;127;127	ENSP00000221700:R276H;ENSP00000011989:R127H	ENSP00000011989:R127H	R	-	2	0	CYP4F2	15861324	0.000000	0.05858	0.105000	0.21289	0.872000	0.50106	-1.211000	0.02997	0.447000	0.26695	0.305000	0.20034	CGC	-	HMMPfam_p450,superfamily_Cytochrome_P450		0.572	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	protein_coding	OTTHUMT00000460372.3	C	NM_001082		15861324	-1	no_errors	NM_001082.3	genbank	human	reviewed	54_36p	missense	SNP	0.027	T
