#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
DOCK5	80005	broad.mit.edu	37	8	25253084	25253084	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:25253084C>T	ENST00000276440.7	+	45	4597	c.4553C>T	c.(4552-4554)gCc>gTc	p.A1518V		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1518	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CTGGAGAATGCCATCGAAACC	0.512																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(4552-4554)gCc>gTc		dedicator of cytokinesis 5							147.0	132.0	137.0					8																	25253084		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25253084C>T		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4553C>T	8.37:g.25253084C>T	ENSP00000276440:p.Ala1518Val						p.A1518V	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	45	4597	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1518			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.4553C>T	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930204	0.92389	.	.	ENSG00000147459	ENST00000276440	T	0.35421	1.31	6.03	5.15	0.70609	.	0.055467	0.64402	N	0.000001	T	0.71256	0.3318	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81320	-0.0986	10	0.87932	D	0	.	15.0523	0.71885	0.0:0.9326:0.0:0.0674	.	1508;1518	D3DSS6;Q9H7D0	.;DOCK5_HUMAN	V	1518	ENSP00000276440:A1518V	ENSP00000276440:A1518V	A	+	2	0	DOCK5	25309001	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	7.788000	0.85771	1.562000	0.49601	0.655000	0.94253	GCC		0.512	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		4	95	0	0	0	0.009096	0	4	95				
MTM1	4534	broad.mit.edu	37	X	149832053	149832053	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chrX:149832053A>G	ENST00000370396.2	+	14	1669	c.1615A>G	c.(1615-1617)Att>Gtt	p.I539V	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000543350.1_Missense_Mutation_p.I424V|MTM1_ENST00000413012.2_Missense_Mutation_p.I502V	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	539					endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GAATTACTACATTAGATGGAA	0.363																																						ENST00000370396.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1615-1617)Att>Gtt		myotubularin 1							88.0	76.0	80.0					X																	149832053		2203	4299	6502	SO:0001583	missense	4534				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chrX:149832053A>G	U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.1615A>G	X.37:g.149832053A>G	ENSP00000359423:p.Ile539Val					MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.I502V|MTM1_ENST00000543350.1_Missense_Mutation_p.I424V	p.I539V	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN			14	1669	+	Acute lymphoblastic leukemia(192;6.56e-05)		539					A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	ENST00000370396.2	37	c.1615A>G	CCDS14694.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.503342	0.26949	.	.	ENSG00000171100	ENST00000370396;ENST00000543350;ENST00000413012	D;D;D	0.90004	-2.6;-2.6;-2.6	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.85035	0.5605	L	0.49513	1.565	0.48135	D	0.999592	B;B	0.14438	0.01;0.002	B;B	0.16289	0.015;0.006	T	0.80120	-0.1515	10	0.15499	T	0.54	.	14.4648	0.67477	1.0:0.0:0.0:0.0	.	502;539	B7Z491;Q13496	.;MTM1_HUMAN	V	539;424;502	ENSP00000359423:I539V;ENSP00000439784:I424V;ENSP00000389157:I502V	ENSP00000359423:I539V	I	+	1	0	MTM1	149582711	1.000000	0.71417	0.970000	0.41538	0.982000	0.71751	7.119000	0.77145	1.795000	0.52594	0.417000	0.27973	ATT		0.363	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060847.3	NM_000252		4	120	0	0	0	0.014758	0	4	120				
TLN1	7094	broad.mit.edu	37	9	35716532	35716532	+	Missense_Mutation	SNP	C	C	T	rs372987518		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr9:35716532C>T	ENST00000314888.9	-	20	2833	c.2480G>A	c.(2479-2481)cGc>cAc	p.R827H	TLN1_ENST00000540444.1_Missense_Mutation_p.R827H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	827					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.R827H(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCAGGATGCGGGCCTGTCG	0.587																																						ENST00000314888.9																			1	Substitution - Missense(1)	p.R827H(1)	prostate(1)	NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(2479-2481)cGc>cAc		talin 1		C	HIS/ARG	0,4406		0,0,2203	94.0	87.0	89.0		2480	6.1	1.0	9		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLN1	NM_006289.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	827/2542	35716532	1,13005	2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35716532C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.2480G>A	9.37:g.35716532C>T	ENSP00000316029:p.Arg827His					TLN1_ENST00000540444.1_Missense_Mutation_p.R827H	p.R827H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		20	2833	-	all_epithelial(49;0.167)		827					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.2480G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	36	5.856297	0.97030	0.0	1.16E-4	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.71698	-0.57;-0.59	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.85500	0.5711	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	D	0.85916	0.1443	10	0.87932	D	0	-10.0317	20.6208	0.99490	0.0:1.0:0.0:0.0	.	827	Q9Y490	TLN1_HUMAN	H	827	ENSP00000316029:R827H;ENSP00000442981:R827H	ENSP00000316029:R827H	R	-	2	0	TLN1	35706532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CGC		0.587	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		4	90	0	0	0	0.009096	0	4	90				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	90	0	0	0	0.004672	0	3	90				
OR4K2	390431	broad.mit.edu	37	14	20345045	20345045	+	Missense_Mutation	SNP	G	G	T	rs145713695		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr14:20345045G>T	ENST00000298642.2	+	1	655	c.619G>T	c.(619-621)Gcg>Tcg	p.A207S		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGGCATAATTGCGTTGTCCTG	0.403																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(619-621)Gcg>Tcg		olfactory receptor, family 4, subfamily K, member 2							314.0	314.0	314.0					14																	20345045		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345045G>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.619G>T	14.37:g.20345045G>T	ENSP00000298642:p.Ala207Ser						p.A207S	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	655	+	all_cancers(95;0.00108)		207					B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.619G>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.390733	0.01185	.	.	ENSG00000165762	ENST00000298642	T	0.36878	1.23	5.0	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.139136	0.32884	N	0.005535	T	0.22513	0.0543	N	0.21097	0.63	0.27743	N	0.944408	B	0.20671	0.047	B	0.31946	0.138	T	0.23154	-1.0196	10	0.02654	T	1	.	10.7154	0.46008	0.0:0.0:0.6854:0.3146	.	207	Q8NGD2	OR4K2_HUMAN	S	207	ENSP00000298642:A207S	ENSP00000298642:A207S	A	+	1	0	OR4K2	19414885	0.000000	0.05858	0.994000	0.49952	0.280000	0.26924	0.083000	0.14871	2.596000	0.87737	0.467000	0.42956	GCG		0.403	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			11	354	1	0	0.000673444	0.069234	0.000905666	11	354				
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr12:113515335T>G	ENST00000257600.3	+	2	869	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	122	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622																																						ENST00000257600.3																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(364-366)gaT>gaG		deltex homolog 1 (Drosophila)							102.0	80.0	87.0					12																	113515335		2203	4300	6503	SO:0001583	missense	1840				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr12:113515335T>G	AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.366T>G	12.37:g.113515335T>G	ENSP00000257600:p.Asp122Glu						p.D122E	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN			2	869	+			122			WWE 2.		O60630|Q9BS04	Missense_Mutation	SNP	ENST00000257600.3	37	c.366T>G	CCDS9164.1	.	.	.	.	.	.	.	.	.	.	T	8.577	0.881366	0.17467	.	.	ENSG00000135144	ENST00000257600	T	0.36157	1.27	3.13	2.21	0.28008	WWE domain (2);WWE domain, subgroup (1);	0.133606	0.47455	D	0.000233	T	0.34513	0.0900	L	0.45352	1.415	0.40375	D	0.979381	D	0.59767	0.986	P	0.55923	0.787	T	0.36407	-0.9749	10	0.08179	T	0.78	-11.4703	6.2807	0.21005	0.0:0.7501:0.0:0.2499	.	122	Q86Y01	DTX1_HUMAN	E	122	ENSP00000257600:D122E	ENSP00000257600:D122E	D	+	3	2	DTX1	111999718	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.418000	0.52721	0.496000	0.27904	-0.483000	0.04790	GAT		0.622	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405045.2			3	50	0	0	0	0.004672	0	3	50				
SEC31B	25956	broad.mit.edu	37	10	102267770	102267770	+	Silent	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr10:102267770C>T	ENST00000370345.3	-	6	631	c.534G>A	c.(532-534)cgG>cgA	p.R178R	NDUFB8_ENST00000531258.1_3'UTR|SEC31B_ENST00000370329.5_Silent_p.R181R|SEC31B_ENST00000451524.1_Silent_p.R178R|SEC31B_ENST00000535773.1_Silent_p.R21R|NDUFB8_ENST00000557395.1_3'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	178					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTTGGGCTTGCCGGTTCCAAG	0.517																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(532-534)cgG>cgA		SEC31 homolog B (S. cerevisiae)							191.0	164.0	173.0					10																	102267770		2203	4300	6503	SO:0001819	synonymous_variant	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102267770C>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.534G>A	10.37:g.102267770C>T						NDUFB8_ENST00000557395.1_3'UTR|SEC31B_ENST00000535773.1_Silent_p.R21R|SEC31B_ENST00000451524.1_Silent_p.R178R|SEC31B_ENST00000370329.5_Silent_p.R181R|NDUFB8_ENST00000531258.1_3'UTR	p.R178R	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	6	631	-		Colorectal(252;0.117)	178					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Silent	SNP	ENST00000370345.3	37	c.534G>A	CCDS7495.1																																																																																				0.517	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		4	123	0	0	0	0.014758	0	4	123				
BRIP1	83990	broad.mit.edu	37	17	59861733	59861733	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr17:59861733C>A	ENST00000259008.2	-	11	1793	c.1526G>T	c.(1525-1527)gGt>gTt	p.G509V	BRIP1_ENST00000577598.1_Missense_Mutation_p.G509V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	509					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTCCTCTTTACCATAAATTGG	0.348			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(1525-1527)gGt>gTt	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							153.0	163.0	159.0					17																	59861733		2203	4297	6500	SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59861733C>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1526G>T	17.37:g.59861733C>A	ENSP00000259008:p.Gly509Val					BRIP1_ENST00000577598.1_Missense_Mutation_p.G509V	p.G509V	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			11	1793	-			509					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.1526G>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829752	0.71258	.	.	ENSG00000136492	ENST00000259008	T	0.75704	-0.96	5.37	5.37	0.77165	.	0.048523	0.85682	D	0.000000	D	0.83073	0.5175	M	0.65320	2	0.80722	D	1	D	0.69078	0.997	P	0.62435	0.902	T	0.82600	-0.0377	9	.	.	.	-11.626	17.6661	0.88203	0.0:1.0:0.0:0.0	.	509	Q9BX63	FANCJ_HUMAN	V	509	ENSP00000259008:G509V	.	G	-	2	0	BRIP1	57216515	1.000000	0.71417	0.999000	0.59377	0.528000	0.34623	4.787000	0.62432	2.530000	0.85305	0.561000	0.74099	GGT		0.348	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		6	202	1	0	8.12818e-05	0.029380	0.000113214	6	202				
NRD1	4898	broad.mit.edu	37	1	52260235	52260235	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr1:52260235T>C	ENST00000354831.7	-	26	3077	c.2888A>G	c.(2887-2889)cAg>cGg	p.Q963R	NRD1_ENST00000539524.1_Missense_Mutation_p.Q831R|NRD1_ENST00000352171.7_Missense_Mutation_p.Q895R|RP4-657D16.3_ENST00000586761.1_RNA|RP4-657D16.3_ENST00000591675.1_RNA|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	894					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CTCTACCACCTGGAACTGCAC	0.493																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(2887-2889)cAg>cGg		nardilysin (N-arginine dibasic convertase)							249.0	252.0	251.0					1																	52260235		2203	4300	6503	SO:0001583	missense	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52260235T>C	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2888A>G	1.37:g.52260235T>C	ENSP00000346890:p.Gln963Arg					NRD1_ENST00000352171.7_Missense_Mutation_p.Q895R|NRD1_ENST00000539524.1_Missense_Mutation_p.Q831R|RP4-657D16.3_ENST00000586761.1_RNA|NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000588291.1_RNA	p.Q963R	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			26	3077	-			894					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	ENST00000354831.7	37	c.2888A>G	CCDS559.1	.	.	.	.	.	.	.	.	.	.	T	6.898	0.535254	0.13188	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169	T;T;T	0.07216	3.21;3.21;3.21	5.53	4.39	0.52855	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.176229	0.49916	D	0.000135	T	0.01454	0.0047	N	0.00182	-1.905	0.80722	D	1	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.41787	-0.9489	10	0.02654	T	1	-6.0178	6.3355	0.21294	0.0:0.1527:0.0:0.8473	.	895;894;963	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	R	895;963;831;325;895	ENSP00000262679:Q895R;ENSP00000346890:Q963R;ENSP00000444416:Q831R	ENSP00000262679:Q895R	Q	-	2	0	NRD1	52032823	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	3.678000	0.54627	2.324000	0.78689	0.533000	0.62120	CAG		0.493	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525		4	311	0	0	0	0.009096	0	4	311				
SLC6A19	340024	broad.mit.edu	37	5	1219168	1219168	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr5:1219168C>T	ENST00000304460.10	+	9	1380	c.1324C>T	c.(1324-1326)Ccc>Tcc	p.P442S		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	442					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTCGTTGTGCCCCTGCAGGA	0.592																																						ENST00000304460.10																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1324-1326)Ccc>Tcc		solute carrier family 6 (neutral amino acid transporter), member 19							267.0	214.0	232.0					5																	1219168		2203	4300	6503	SO:0001583	missense	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1219168C>T	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1324C>T	5.37:g.1219168C>T	ENSP00000305302:p.Pro442Ser						p.P442S	NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		9	1380	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		442					A8K446	Missense_Mutation	SNP	ENST00000304460.10	37	c.1324C>T	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846948	0.71603	.	.	ENSG00000174358	ENST00000304460	T	0.73897	-0.79	4.55	4.55	0.56014	.	0.160921	0.56097	D	0.000023	T	0.81508	0.4837	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.80346	-0.1421	10	0.33940	T	0.23	.	17.2798	0.87125	0.0:1.0:0.0:0.0	.	442	Q695T7	S6A19_HUMAN	S	442	ENSP00000305302:P442S	ENSP00000305302:P442S	P	+	1	0	SLC6A19	1272168	1.000000	0.71417	0.998000	0.56505	0.549000	0.35272	7.557000	0.82243	2.081000	0.62600	0.491000	0.48974	CCC		0.592	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		3	32	0	0	0	0.009096	0	3	32				
YPEL1	29799	broad.mit.edu	37	22	22055423	22055423	+	Missense_Mutation	SNP	C	C	T	rs374724181		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr22:22055423C>T	ENST00000339468.3	-	5	738	c.355G>A	c.(355-357)Gag>Aag	p.E119K		NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)	119						nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					GCACATTACTCCCAGCCATTG	0.408																																						ENST00000339468.3																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(355-357)Gag>Aag		yippee-like 1 (Drosophila)							138.0	117.0	124.0					22																	22055423		2203	4300	6503	SO:0001583	missense	29799					nucleus		g.chr22:22055423C>T	AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"""yippee (Drosophila) homolog-like 1"""			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830	ENST00000339468.3:c.355G>A	22.37:g.22055423C>T	ENSP00000342832:p.Glu119Lys						p.E119K	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN			5	738	-	Colorectal(54;0.105)		119					Q65ZA1|Q6GLI6	Missense_Mutation	SNP	ENST00000339468.3	37	c.355G>A	CCDS13794.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320460	0.81469	.	.	ENSG00000100027	ENST00000339468	.	.	.	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	L	0.45352	1.415	0.80722	D	1	B	0.32717	0.381	B	0.23419	0.046	T	0.58289	-0.7662	9	0.72032	D	0.01	.	18.0829	0.89447	0.0:1.0:0.0:0.0	.	119	O60688	YPEL1_HUMAN	K	119	.	ENSP00000342832:E119K	E	-	1	0	YPEL1	20385423	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.799000	0.69101	2.684000	0.91462	0.650000	0.86243	GAG		0.408	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		3	30	0	0	0	0.009096	0	3	30				
ANKRD11	29123	broad.mit.edu	37	16	89352008	89352008	+	Silent	SNP	G	G	C			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr16:89352008G>C	ENST00000301030.4	-	9	1402	c.942C>G	c.(940-942)gtC>gtG	p.V314V	ANKRD11_ENST00000378330.2_Silent_p.V314V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	314					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTTGCCGTCGACTGAACTGG	0.572																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(940-942)gtC>gtG		ankyrin repeat domain 11							163.0	135.0	144.0					16																	89352008		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89352008G>C	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.942C>G	16.37:g.89352008G>C						ANKRD11_ENST00000378330.2_Silent_p.V314V	p.V314V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	1402	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	314					Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.942C>G	CCDS32513.1																																																																																				0.572	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		6	105	0	0	0	0.029380	0	6	105				
BRIP1	83990	broad.mit.edu	37	17	59861734	59861734	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr17:59861734C>A	ENST00000259008.2	-	11	1792	c.1525G>T	c.(1525-1527)Ggt>Tgt	p.G509C	BRIP1_ENST00000577598.1_Missense_Mutation_p.G509C	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	509					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCCTCTTTACCATAAATTGGT	0.343			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(1525-1527)Ggt>Tgt	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							152.0	162.0	159.0					17																	59861734		2203	4297	6500	SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59861734C>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1525G>T	17.37:g.59861734C>A	ENSP00000259008:p.Gly509Cys					BRIP1_ENST00000577598.1_Missense_Mutation_p.G509C	p.G509C	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			11	1792	-			509					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.1525G>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411112	0.62399	.	.	ENSG00000136492	ENST00000259008	T	0.76060	-0.99	5.37	4.4	0.53042	.	0.048523	0.85682	D	0.000000	D	0.84674	0.5524	M	0.76838	2.35	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	D	0.85264	0.1052	9	.	.	.	-11.626	12.6391	0.56698	0.0:0.9196:0.0:0.0804	.	509	Q9BX63	FANCJ_HUMAN	C	509	ENSP00000259008:G509C	.	G	-	1	0	BRIP1	57216516	1.000000	0.71417	0.997000	0.53966	0.530000	0.34684	3.784000	0.55416	1.283000	0.44513	0.561000	0.74099	GGT		0.343	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		6	199	1	0	8.12818e-05	0.029380	0.000113214	6	199				
CDCA2	157313	broad.mit.edu	37	8	25340935	25340935	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:25340935T>G	ENST00000330560.3	+	9	1530	c.1053T>G	c.(1051-1053)taT>taG	p.Y351*	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Nonsense_Mutation_p.Y336*	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	351					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ACAACCTCTATGATGATGATG	0.328																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(1051-1053)taT>taG		cell division cycle associated 2							89.0	85.0	86.0					8																	25340935		2203	4300	6503	SO:0001587	stop_gained	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25340935T>G	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1053T>G	8.37:g.25340935T>G	ENSP00000328228:p.Tyr351*					CDCA2_ENST00000380665.3_Nonsense_Mutation_p.Y336*|CDCA2_ENST00000521098.2_3'UTR	p.Y351*	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	9	1530	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	351					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Nonsense_Mutation	SNP	ENST00000330560.3	37	c.1053T>G	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.913956	0.92178	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	.	.	.	5.1	2.7	0.31948	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	0.3474	7.0779	0.25215	0.0:0.1858:0.0:0.8142	.	.	.	.	X	351;336	.	ENSP00000328228:Y351X	Y	+	3	2	CDCA2	25396852	0.446000	0.25665	0.002000	0.10522	0.008000	0.06430	1.655000	0.37345	0.468000	0.27243	0.477000	0.44152	TAT		0.328	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		4	46	0	0	0	0.014758	0	4	46				
MUC3A	4584	broad.mit.edu	37	7	100606299	100606299	+	Silent	SNP	C	C	G			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr7:100606299C>G	ENST00000319509.7	+	3	1815	c.1815C>G	c.(1813-1815)acC>acG	p.T605T	RP11-395B7.2_ENST00000420080.1_RNA|RP11-395B7.2_ENST00000434775.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2270	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCAACAAGACCTTCTGGAATC	0.488																																						ENST00000319509.7																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(1813-1815)acC>acG		mucin 3A, cell surface associated							10.0	9.0	9.0					7																	100606299		874	1977	2851	SO:0001819	synonymous_variant	4584							g.chr7:100606299C>G	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.1815C>G	7.37:g.100606299C>G							p.T605T							3	1815	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Silent	SNP	ENST00000319509.7	37	c.1815C>G																																																																																					0.488	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354		2	6	0	0	0	0.004672	0	2	6				
C2	717	broad.mit.edu	37	6	31901656	31901656	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr6:31901656A>C	ENST00000299367.5	+	5	905	c.629A>C	c.(628-630)tAt>tCt	p.Y210S	CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Missense_Mutation_p.Y148S|C2_ENST00000452323.2_Missense_Mutation_p.Y87S|C2_ENST00000442278.2_Missense_Mutation_p.Y78S|CFB_ENST00000556679.1_Missense_Mutation_p.Y148S|C2_ENST00000418949.2_Missense_Mutation_p.Y210S|C2_ENST00000469372.1_Intron	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	210					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCCTACTCTTATGACTTCCCT	0.627																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(442-444)tAt>tCt		complement factor B							67.0	65.0	66.0					6																	31901656		2203	4300	6503	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31901656A>C		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.629A>C	6.37:g.31901656A>C	ENSP00000299367:p.Tyr210Ser					C2_ENST00000442278.2_Missense_Mutation_p.Y78S|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.Y210S|CFB_ENST00000556679.1_Missense_Mutation_p.Y148S|C2_ENST00000452323.2_Missense_Mutation_p.Y87S|CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.Y210S	p.Y148S			P00751	CFAB_HUMAN			4	498	+			224			Sushi 2.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.443A>C	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.21|14.21	2.467545|2.467545	0.43839|0.43839	.|.	.|.	ENSG00000166278|ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255	ENST00000497706;ENST00000432397;ENST00000383177|ENST00000452323;ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905;ENST00000556679;ENST00000456570	D|T;T;T;T;T;T;T;T;T	0.88509|0.77750	-2.39|-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12;-1.12	5.88|5.88	3.38|3.38	0.38709|0.38709	.|.	.|0.000000	.|0.35708	.|N	.|0.003040	T|T	0.78585|0.78585	0.4306|0.4306	M|M	0.78801|0.78801	2.425|2.425	0.27409|0.27409	N|N	0.954629|0.954629	B|D;P;D;P;P;P;D	0.02656|0.89917	0.0|0.998;0.855;0.996;0.855;0.855;0.886;1.0	B|P;B;P;B;B;P;D	0.04013|0.75020	0.001|0.878;0.393;0.794;0.393;0.393;0.735;0.985	T|T	0.71441|0.71441	-0.4592|-0.4592	8|10	.|0.87932	.|D	.|0	-19.5373|-19.5373	4.6929|4.6929	0.12790|0.12790	0.7456:0.0:0.0878:0.1665|0.7456:0.0:0.0878:0.1665	.|.	42|148;181;87;78;78;210;210	E9PDZ0|B4E1Z4;B4DV48;B4DPF3;E9PFN7;B4DV20;P06681;Q8N6L6	.|.;.;.;.;.;CO2_HUMAN;.	L|S	42;42;75|87;87;210;78;148;210;69;148;148	ENSP00000417482:M42L|ENSP00000392322:Y87S;ENSP00000406121:Y87S;ENSP00000299367:Y210S;ENSP00000395683:Y78S;ENSP00000391354:Y148S;ENSP00000406190:Y210S;ENSP00000419048:Y69S;ENSP00000451848:Y148S;ENSP00000410815:Y148S	.|ENSP00000299367:Y210S	M|Y	+|+	1|2	0|0	C2|CFB;C2;XXbac-BPG116M5.17	32009635|32009635	0.103000|0.103000	0.21917|0.21917	0.511000|0.511000	0.27724|0.27724	0.960000|0.960000	0.62799|0.62799	1.532000|1.532000	0.36029|0.36029	1.058000|1.058000	0.40530|0.40530	0.533000|0.533000	0.62120|0.62120	ATG|TAT		0.627	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			24	27	0	0	0	0.091800	0	24	27				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	24	0	0	0	0.009096	0	4	24				
NSL1	25936	broad.mit.edu	37	1	212964938	212964938	+	Silent	SNP	G	G	A			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr1:212964938G>A	ENST00000366977.3	-	1	186	c.168C>T	c.(166-168)ttC>ttT	p.F56F	TATDN3_ENST00000366974.4_5'Flank|TATDN3_ENST00000366973.4_5'Flank|TATDN3_ENST00000526641.1_5'Flank|NSL1_ENST00000422588.2_Silent_p.F56F|NSL1_ENST00000366976.1_Silent_p.F56F|NSL1_ENST00000366975.6_Silent_p.F56F|NSL1_ENST00000473995.1_5'UTR|TATDN3_ENST00000532324.1_5'Flank|TATDN3_ENST00000530441.1_5'Flank|TATDN3_ENST00000531963.1_5'Flank|NSL1_ENST00000366978.1_5'Flank|TATDN3_ENST00000526997.1_5'Flank	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	56					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|MIS12/MIND type complex (GO:0000444)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GCTTTTGCACGAAGCGGCCGC	0.617																																						ENST00000366977.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9						c.(166-168)ttC>ttT		NSL1, MIS12 kinetochore complex component							94.0	104.0	100.0					1																	212964938		2202	4299	6501	SO:0001819	synonymous_variant	25936				cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	g.chr1:212964938G>A	AF255793	CCDS1509.1, CCDS73025.1	1q41	2013-07-03	2013-07-03	2006-11-07	ENSG00000117697	ENSG00000117697			24548	protein-coding gene	gene with protein product		609174	"""chromosome 1 open reading frame 48"", ""NSL1, MIND kinetochore complex component, homolog (S. cerevisiae)"""	C1orf48		20819937	Standard	NM_015471		Approved	DC8, DKFZP566O1646, MIS14	uc001hjn.3	Q96IY1	OTTHUMG00000036806	ENST00000366977.3:c.168C>T	1.37:g.212964938G>A						NSL1_ENST00000366975.6_Silent_p.F56F|NSL1_ENST00000422588.2_Silent_p.F56F|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000366976.1_Silent_p.F56F	p.F56F	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)	1	186	-			56					E7ETD5|Q5SY75|Q9H2M5|Q9NRN8|Q9Y415	Silent	SNP	ENST00000366977.3	37	c.168C>T	CCDS1509.1																																																																																				0.617	NSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089398.2	NM_015471		14	197	0	0	0	0.105934	0	14	197				
KCNK18	338567	broad.mit.edu	37	10	118969513	118969513	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr10:118969513T>G	ENST00000334549.1	+	3	858	c.858T>G	c.(856-858)atT>atG	p.I286M		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	286					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TCCCCATCATTGCCCTTATTG	0.502																																						ENST00000334549.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41						c.(856-858)atT>atG		potassium channel, subfamily K, member 18							236.0	200.0	212.0					10																	118969513		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118969513T>G	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.858T>G	10.37:g.118969513T>G	ENSP00000334650:p.Ile286Met						p.I286M	NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	858	+		Colorectal(252;0.19)	286					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.858T>G	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	T	5.797	0.331417	0.10956	.	.	ENSG00000186795	ENST00000334549	D	0.96136	-3.92	5.4	-7.44	0.01379	.	0.101991	0.64402	D	0.000003	D	0.89171	0.6639	L	0.38175	1.15	0.27554	N	0.950419	B	0.14012	0.009	B	0.29176	0.099	T	0.75875	-0.3163	10	0.40728	T	0.16	.	7.702	0.28627	0.082:0.1148:0.1067:0.6965	.	286	Q7Z418	KCNKI_HUMAN	M	286	ENSP00000334650:I286M	ENSP00000334650:I286M	I	+	3	3	KCNK18	118959503	0.011000	0.17503	0.001000	0.08648	0.001000	0.01503	-0.214000	0.09292	-1.528000	0.01756	-0.250000	0.11733	ATT		0.502	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		12	129	0	0	0	0.080935	0	12	129				
APOL6	80830	broad.mit.edu	37	22	36055153	36055153	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr22:36055153C>T	ENST00000409652.4	+	3	818	c.542C>T	c.(541-543)gCc>gTc	p.A181V		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	181					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						TTGAAGTATGCCAAGAAAAAC	0.498																																						ENST00000409652.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						c.(541-543)gCc>gTc		apolipoprotein L, 6							67.0	70.0	69.0					22																	36055153		2203	4300	6503	SO:0001583	missense	80830				lipoprotein metabolic process	cytoplasm|extracellular region	lipid binding|lipid transporter activity	g.chr22:36055153C>T	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.542C>T	22.37:g.36055153C>T	ENSP00000386280:p.Ala181Val						p.A181V	NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN			3	818	+			181					Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Missense_Mutation	SNP	ENST00000409652.4	37	c.542C>T	CCDS13919.1	.	.	.	.	.	.	.	.	.	.	C	6.067	0.380716	0.11466	.	.	ENSG00000221963	ENST00000409652	T	0.03181	4.02	4.21	2.06	0.26882	.	1.264280	0.05701	N	0.593991	T	0.03178	0.0093	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.48747	-0.9008	10	0.20046	T	0.44	-26.4403	6.2498	0.20839	0.0:0.2207:0.0:0.7793	.	181	Q9BWW8	APOL6_HUMAN	V	181	ENSP00000386280:A181V	ENSP00000386280:A181V	A	+	2	0	APOL6	34385099	0.056000	0.20664	0.000000	0.03702	0.002000	0.02628	1.790000	0.38734	0.284000	0.22305	-0.302000	0.09304	GCC		0.498	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641		4	80	0	0	0	0.014758	0	4	80				
SOS1	6654	broad.mit.edu	37	2	39250247	39250247	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr2:39250247C>T	ENST00000426016.1	-	11	1408	c.1322G>A	c.(1321-1323)tGt>tAt	p.C441Y	SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.C441Y|SOS1_ENST00000402219.2_Missense_Mutation_p.C441Y			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	441			C -> Y (in NS4). {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:21387466}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AAATTCATTACAACACTGTCC	0.363									Noonan syndrome																													ENST00000426016.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75	GRCh37	CM070286	SOS1	M		c.(1321-1323)tGt>tAt		son of sevenless homolog 1 (Drosophila)							120.0	110.0	113.0					2																	39250247		2203	4300	6503	SO:0001583	missense	6654	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39250247C>T	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1322G>A	2.37:g.39250247C>T	ENSP00000387784:p.Cys441Tyr					SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.C441Y|SOS1_ENST00000402219.2_Missense_Mutation_p.C441Y	p.C441Y			Q07889	SOS1_HUMAN			11	1408	-		all_hematologic(82;0.21)	441		C -> Y (in NS4).			A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.1322G>A	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962232	0.74016	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.86865	-2.18;-2.18;-2.18	5.52	5.52	0.82312	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.987	D	0.93924	0.7208	10	0.87932	D	0	.	19.8	0.96502	0.0:1.0:0.0:0.0	.	173;441	F5GX06;Q07889	.;SOS1_HUMAN	Y	441;441;173;441;441	ENSP00000387784:C441Y;ENSP00000384675:C441Y;ENSP00000378479:C441Y	ENSP00000263879:C441Y	C	-	2	0	SOS1	39103751	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.666000	0.83877	2.753000	0.94483	0.557000	0.71058	TGT		0.363	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		4	112	0	0	0	0.014758	0	4	112				
NANOS3	342977	broad.mit.edu	37	19	13991282	13991282	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr19:13991282C>T	ENST00000397555.2	+	3	487	c.487C>T	c.(487-489)Cct>Tct	p.P163S	NANOS3_ENST00000591727.1_3'UTR|NANOS3_ENST00000339133.5_Missense_Mutation_p.P182S	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	163					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAAGTCTGAGCCTTCGCCCTC	0.607											OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397555.2																			0				breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7						c.(487-489)Cct>Tct		nanos homolog 3 (Drosophila)							94.0	100.0	98.0					19																	13991282		2052	4190	6242	SO:0001583	missense	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13991282C>T	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.487C>T	19.37:g.13991282C>T	ENSP00000380687:p.Pro163Ser		OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	691	NANOS3_ENST00000591727.1_5'UTR|NANOS3_ENST00000339133.5_Missense_Mutation_p.P182S|NANOS3_ENST00000591161.1_5'UTR	p.P163S	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		3	487	+			163					Q495E5	Missense_Mutation	SNP	ENST00000397555.2	37	c.487C>T		.	.	.	.	.	.	.	.	.	.	C	10.18	1.279323	0.23307	.	.	ENSG00000187556	ENST00000339133;ENST00000397555	T;T	0.49139	0.79;0.87	3.74	-0.881	0.10607	.	3.253730	0.01451	N	0.015480	T	0.24661	0.0598	.	.	.	0.09310	N	1	B	0.20671	0.047	B	0.16289	0.015	T	0.05699	-1.0869	9	0.15066	T	0.55	-5.9766	0.9202	0.01313	0.1983:0.4203:0.167:0.2144	.	182	P60323-2	.	S	182;163	ENSP00000341992:P182S;ENSP00000380687:P163S	ENSP00000341992:P182S	P	+	1	0	NANOS3	13852282	0.019000	0.18553	0.001000	0.08648	0.004000	0.04260	-0.282000	0.08445	-0.046000	0.13446	-0.224000	0.12420	CCT		0.607	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_292819		5	67	0	0	0	0.014758	0	5	67				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	40	0	0	0	0.049695	0	19	40				
GPAT2	150763	broad.mit.edu	37	2	96688465	96688465	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr2:96688465G>A	ENST00000434632.1	-	22	2681	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	FAHD2CP_ENST00000607780.1_RNA|GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W|GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	741					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerol-3-phosphate metabolic process (GO:0006072)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTTTGGGTCCGCACACTCTGG	0.557																																						ENST00000434632.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						c.(2221-2223)gCg>gTg		glycerol-3-phosphate acyltransferase 2, mitochondrial							127.0	130.0	129.0					2																	96688465		1940	4129	6069	SO:0001583	missense	150763				glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr2:96688465G>A	BC042847	CCDS42714.1	2q11.2	2010-05-04			ENSG00000186281	ENSG00000186281			27168	protein-coding gene	gene with protein product	"""cancer/testis antigen 123"""					12477932	Standard	NM_207328		Approved	CT123	uc010yuf.1	Q6NUI2	OTTHUMG00000155208	ENST00000434632.1:c.2222C>T	2.37:g.96688465G>A	ENSP00000389395:p.Ala741Val					GPAT2_ENST00000359548.4_Missense_Mutation_p.A741V|GPAT2_ENST00000453542.1_Missense_Mutation_p.A670V|GPAT2_ENST00000377137.3_Missense_Mutation_p.R657W	p.A741V			Q6NUI2	GPAT2_HUMAN			22	2681	-			741					Q6P2E4|Q6ZNI3|Q6ZNI5|Q6ZWJ4	Missense_Mutation	SNP	ENST00000434632.1	37	c.2222C>T	CCDS42714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.68|11.68	1.709764|1.709764	0.30322|0.30322	.|.	.|.	ENSG00000186281|ENSG00000186281	ENST00000359548;ENST00000434632;ENST00000453542|ENST00000377137	T;T;T|T	0.79352|0.78924	-1.26;-1.26;-0.28|-1.22	4.91|4.91	-4.54|-4.54	0.03452|0.03452	.|.	.|.	.|.	.|.	.|.	T|T	0.71013|0.71013	0.3290|0.3290	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B;B;B;B|B	0.13145|0.02656	0.007;0.001;0.001;0.006|0.0	B;B;B;B|B	0.08055|0.01281	0.003;0.001;0.001;0.003|0.0	T|T	0.60182|0.60182	-0.7313|-0.7313	9|9	0.06757|0.66056	T|D	0.87|0.02	-15.4873|-15.4873	13.7313|13.7313	0.62789|0.62789	0.2194:0.0:0.7806:0.0|0.2194:0.0:0.7806:0.0	.|.	670;747;741;670|657	E9PE95;Q6NUI2-4;Q6NUI2;B4DNZ9|Q6NUI2-3	.;.;GPAT2_HUMAN;.|.	V|W	741;741;670|657	ENSP00000352547:A741V;ENSP00000389395:A741V;ENSP00000393770:A670V|ENSP00000366341:R657W	ENSP00000352547:A741V|ENSP00000366341:R657W	A|R	-|-	2|1	0|2	GPAT2|GPAT2	96052192|96052192	0.005000|0.005000	0.15991|0.15991	0.276000|0.276000	0.24689|0.24689	0.761000|0.761000	0.43186|0.43186	-0.030000|-0.030000	0.12308|0.12308	-0.818000|-0.818000	0.04329|0.04329	-1.269000|-1.269000	0.01422|0.01422	GCG|CGG		0.557	GPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338786.1	NM_207328		5	206	0	0	0	0.014758	0	5	206				
SLC12A9	56996	broad.mit.edu	37	7	100454533	100454533	+	Silent	SNP	C	C	T	rs570239035		TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr7:100454533C>T	ENST00000354161.3	+	5	617	c.492C>T	c.(490-492)taC>taT	p.Y164Y	SLC12A9_ENST00000415287.1_Silent_p.Y75Y|SLC12A9_ENST00000275729.3_Silent_p.Y75Y|SLC12A9_ENST00000540482.1_Silent_p.Y164Y|SLC12A9_ENST00000428758.1_Silent_p.Y164Y	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	164					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCAGGGCTACGGCTGGAACC	0.662													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15135	0.0		0.0	False		,,,				2504	0.0					ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(490-492)taC>taT		solute carrier family 12, member 9							52.0	54.0	54.0					7																	100454533		2203	4300	6503	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100454533C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.492C>T	7.37:g.100454533C>T						SLC12A9_ENST00000415287.1_Silent_p.Y75Y|SLC12A9_ENST00000275729.3_Silent_p.Y75Y|SLC12A9_ENST00000540482.1_Silent_p.Y164Y|SLC12A9_ENST00000428758.1_Silent_p.Y164Y	p.Y164Y	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			5	617	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		164					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.492C>T	CCDS5707.1																																																																																				0.662	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		24	49	0	0	0	0.083992	0	24	49				
OR6Q1	219952	broad.mit.edu	37	11	57798858	57798858	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr11:57798858G>A	ENST00000302622.3	+	1	457	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGGGCACCTGCATCCGTCTG	0.517																																						ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(433-435)tGc>tAc		olfactory receptor, family 6, subfamily Q, member 1							133.0	123.0	126.0					11																	57798858		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798858G>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.434G>A	11.37:g.57798858G>A	ENSP00000307734:p.Cys145Tyr					OR9Q1_ENST00000335397.3_Intron	p.C145Y	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	457	+		Breast(21;0.0707)|all_epithelial(135;0.142)	145					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.434G>A	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.601961	0.66445	.	.	ENSG00000172381	ENST00000302622	T	0.00237	8.47	5.04	5.04	0.67666	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41938	D	0.000781	T	0.00637	0.0021	M	0.85710	2.77	0.44417	D	0.997335	D	0.59357	0.985	D	0.66602	0.945	T	0.75852	-0.3171	10	0.62326	D	0.03	.	17.1737	0.86836	0.0:0.0:1.0:0.0	.	145	Q8NGQ2	OR6Q1_HUMAN	Y	145	ENSP00000307734:C145Y	ENSP00000307734:C145Y	C	+	2	0	OR6Q1	57555434	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	4.957000	0.63652	2.340000	0.79590	0.643000	0.83706	TGC		0.517	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		4	87	0	0	0	0.009096	0	4	87				
ZNF251	90987	broad.mit.edu	37	8	145948217	145948217	+	Silent	SNP	G	G	A			TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr8:145948217G>A	ENST00000292562.7	-	5	1103	c.828C>T	c.(826-828)ctC>ctT	p.L276L	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GGTGAGAATTGAGTCCAAAAG	0.438																																						ENST00000292562.7																			0				autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17						c.(826-828)ctC>ctT		zinc finger protein 251							82.0	87.0	85.0					8																	145948217		2086	4244	6330	SO:0001819	synonymous_variant	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145948217G>A	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.828C>T	8.37:g.145948217G>A						ZNF251_ENST00000524394.1_Intron	p.L276L	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	1103	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		276					Q2M219	Silent	SNP	ENST00000292562.7	37	c.828C>T	CCDS47944.1																																																																																				0.438	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		6	61	0	0	0	0.021553	0	6	61				
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-DJ-A2QC-01A-11D-A18F-08	TCGA-DJ-A2QC-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25dfee93-623d-49f1-aedb-105d3aa9b36b	5f9f4c5d-30a3-4d6f-8206-563c203fd539	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			2	4						2	4	---	---	---	---
