#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
TREX1	11277	broad.mit.edu	37	3	48508560	48508560	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr3:48508560C>G	ENST00000422277.2	+	1	1332	c.671C>G	c.(670-672)tCa>tGa	p.S224*	TREX1_ENST00000296443.9_Nonsense_Mutation_p.S169*|TREX1_ENST00000433541.1_Nonsense_Mutation_p.S30*|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000444177.1_Nonsense_Mutation_p.S159*|TREX1_ENST00000456089.1_Nonsense_Mutation_p.S30*|TREX1_ENST00000436480.2_Nonsense_Mutation_p.S169*|TREX1_ENST00000492235.1_3'UTR	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	224					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AGCAGCCCCTCAGAACACGGC	0.612																																						uc003ctj.3																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(670-672)tCa>tGa		Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.							64.0	67.0	66.0					3																	48508560		2203	4300	6503	SO:0001587	stop_gained	11277				DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508560C>G	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.671C>G	3.37:g.48508560C>G	ENSP00000390478:p.Ser224*					TREX1_uc010hjy.3_Nonsense_Mutation_p.S169*|TREX1_uc010hjz.3_Nonsense_Mutation_p.S169*|TREX1_uc003ctk.3_Nonsense_Mutation_p.S30*|TREX1_uc010hka.3_Nonsense_Mutation_p.S224*	p.S224*	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	1928	+			224					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Nonsense_Mutation	SNP	ENST00000422277.2	37	c.671C>G	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717540	0.30413	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	.	.	.	4.99	2.02	0.26589	.	1.225480	0.06309	U	0.702278	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	4.2831	0.10841	0.1464:0.4812:0.2856:0.0868	.	.	.	.	X	169;30;169;224;159;30	.	ENSP00000296443:S169X	S	+	2	0	TREX1	48483564	0.000000	0.05858	0.358000	0.25811	0.013000	0.08279	0.163000	0.16520	1.076000	0.40961	-0.165000	0.13383	TCA		0.612	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		3	99	0	0	0	1	0	3	99				
PIK3C2G	5288	broad.mit.edu	37	12	18499700	18499700	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr12:18499700C>T	ENST00000266497.5	+	10	1593	c.1555C>T	c.(1555-1557)Ccc>Tcc	p.P519S	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.P519S|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.P519S|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.P519S			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	519	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTATCTAAATCCCGGGCTTCC	0.448																																						uc010sib.2																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(1555-1557)Ccc>Tcc		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							116.0	112.0	113.0					12																	18499700		1944	4136	6080	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18499700C>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1555C>T	12.37:g.18499700C>T	ENSP00000266497:p.Pro519Ser					PIK3C2G_uc001rdt.3_Missense_Mutation_p.P519S|PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sic.2_Missense_Mutation_p.P297S	p.P519S	NM_004570	NP_004561	O75747	P3C2G_HUMAN			9	1633	+		Hepatocellular(102;0.194)	519					A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.1555C>T	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	C	1.569	-0.534708	0.04082	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.75477	1.68;-0.94;-0.94;0.3	4.25	3.33	0.38152	Phosphoinositide 3-kinase, C2 (2);	3.722390	0.00424	N	0.000076	T	0.61060	0.2317	N	0.19112	0.55	0.09310	N	1	B;B;B	0.29805	0.138;0.216;0.257	B;B;B	0.34452	0.053;0.115;0.183	T	0.54886	-0.8226	10	0.06099	T	0.92	-2.5521	7.0377	0.25002	0.2055:0.6088:0.1857:0.0	.	518;519;519	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	S	519	ENSP00000443850:P519S;ENSP00000404845:P519S;ENSP00000266497:P519S;ENSP00000445381:P519S	ENSP00000266497:P519S	P	+	1	0	PIK3C2G	18390967	0.002000	0.14202	0.016000	0.15963	0.023000	0.10783	0.551000	0.23361	1.339000	0.45563	0.555000	0.69702	CCC		0.448	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		41	57	0	0	0	1	0	41	57				
SLC6A3	6531	broad.mit.edu	37	5	1443103	1443103	+	Silent	SNP	G	G	C			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:1443103G>C	ENST00000270349.9	-	2	337	c.210C>G	c.(208-210)ctC>ctG	p.L70L	SLC6A3_ENST00000453492.2_Silent_p.L70L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	70					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGACGGACAGGAGAAAGTCGA	0.612																																						uc003jck.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(208-210)ctC>ctG		Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						110.0	97.0	101.0					5																	1443103		2203	4300	6503	SO:0001819	synonymous_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1443103G>C		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.210C>G	5.37:g.1443103G>C							p.L70L	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		1	336	-			70					A2RUN4|Q14996	Silent	SNP	ENST00000270349.9	37	c.210C>G	CCDS3863.1																																																																																				0.612	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		4	121	0	0	0	1	0	4	121				
DNAJC21	134218	broad.mit.edu	37	5	34954066	34954066	+	Missense_Mutation	SNP	T	T	C	rs200823175		TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:34954066T>C	ENST00000342382.4	+	11	1621	c.1394T>C	c.(1393-1395)aTg>aCg	p.M465T	DNAJC21_ENST00000382021.2_Missense_Mutation_p.M510T|DNAJC21_ENST00000303525.7_Missense_Mutation_p.M478T			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	465					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACCAAAGATATGAAAAAACCT	0.318													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17048	0.0		0.0	False		,,,				2504	0.0					uc003jjb.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1528-1530)aTg>aCg		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.							101.0	109.0	106.0					5																	34954066		2203	4300	6503	SO:0001583	missense	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34954066T>C		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.1394T>C	5.37:g.34954066T>C	ENSP00000343728:p.Met465Thr					DNAJC21_uc003jjc.3_Missense_Mutation_p.M465T|DNAJC21_uc010iuu.1_Missense_Mutation_p.M362T	p.M510T	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		11	1756	+	all_lung(31;7.08e-05)		465					Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	ENST00000342382.4	37	c.1529T>C	CCDS34144.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.279	-0.987382	0.02180	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.39787	1.08;1.07;1.06	5.81	-11.6	0.00059	.	2.389020	0.00921	N	0.002592	T	0.23094	0.0558	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.14254	-1.0479	10	0.13108	T	0.6	4.5532	15.4284	0.75072	0.0:0.6399:0.0744:0.2856	.	478;465;510	Q5F1R6-3;Q5F1R6;Q5F1R6-2	.;DJC21_HUMAN;.	T	465;510;478	ENSP00000343728:M465T;ENSP00000371451:M510T;ENSP00000306289:M478T	ENSP00000306289:M478T	M	+	2	0	DNAJC21	34989823	0.000000	0.05858	0.000000	0.03702	0.314000	0.28054	-3.046000	0.00630	-2.414000	0.00569	-2.332000	0.00249	ATG		0.318	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		4	127	0	0	0	1	0	4	127				
MAGI2	9863	broad.mit.edu	37	7	77973161	77973161	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:77973161C>T	ENST00000354212.4	-	9	1595	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	MAGI2_ENST00000522391.1_Missense_Mutation_p.E448K|MAGI2_ENST00000536571.1_Missense_Mutation_p.E280K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E448K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E285K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	448	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCAGAAACTCATCAGGCTCG	0.473																																						uc003ugx.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1342-1344)Gag>Aag		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.							121.0	107.0	112.0					7																	77973161		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77973161C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1342G>A	7.37:g.77973161C>T	ENSP00000346151:p.Glu448Lys					MAGI2_uc003ugy.3_Missense_Mutation_p.E448K|MAGI2_uc010ldx.1_Missense_Mutation_p.E57K|MAGI2_uc010ldy.1_Missense_Mutation_p.E57K|MAGI2_uc011kgr.1_Missense_Mutation_p.E280K|MAGI2_uc011kgs.1_Missense_Mutation_p.E285K	p.E448K	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			8	1596	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	448			PDZ 2.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1342G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513023	0.96402	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.81	5.81	0.92471	PDZ/DHR/GLGF (4);	0.000000	0.36854	U	0.002372	T	0.46658	0.1404	L	0.43554	1.36	0.80722	D	1	P;P;D;D;P;D	0.76494	0.911;0.687;0.999;0.999;0.911;0.997	P;B;D;D;P;D	0.87578	0.848;0.379;0.998;0.998;0.848;0.996	T	0.33954	-0.9848	10	0.87932	D	0	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	285;280;448;448;448;448	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	K	448;448;448;448;280;285	ENSP00000405766:E448K;ENSP00000346151:E448K;ENSP00000428389:E448K;ENSP00000441584:E280K;ENSP00000441603:E285K	ENSP00000346151:E448K	E	-	1	0	MAGI2	77811097	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.746000	0.94184	0.591000	0.81541	GAG		0.473	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		43	55	0	0	0	1	0	43	55				
ZSCAN5A	79149	broad.mit.edu	37	19	56736373	56736373	+	Missense_Mutation	SNP	A	A	T	rs201140936		TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr19:56736373A>T	ENST00000587340.1	-	4	738	c.43T>A	c.(43-45)Tgc>Agc	p.C15S	ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.C15S|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.C15S			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	15					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGTCTGTTGCAGGATTCTCCT	0.468																																						uc002qmr.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(43-45)Tgc>Agc		Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.							60.0	62.0	61.0					19																	56736373		2203	4300	6503	SO:0001583	missense	79149				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56736373A>T	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.43T>A	19.37:g.56736373A>T	ENSP00000467631:p.Cys15Ser					ZSCAN5A_uc010ygi.2_Intron|ZSCAN5A_uc002qmq.3_Missense_Mutation_p.C15S|ZSCAN5A_uc002qms.1_Missense_Mutation_p.C15S	p.C15S	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN			3	739	-			15					B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	c.43T>A	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	A	2.930	-0.221266	0.06061	.	.	ENSG00000131848	ENST00000391713	T	0.07444	3.19	2.08	-0.391	0.12446	.	.	.	.	.	T	0.05960	0.0155	L	0.59436	1.845	0.09310	N	1	P	0.38922	0.651	B	0.30401	0.115	T	0.33777	-0.9855	9	0.22109	T	0.4	.	2.1329	0.03754	0.3942:0.3343:0.2715:0.0	.	15	Q9BUG6	ZSA5A_HUMAN	S	15	ENSP00000375593:C15S	ENSP00000375593:C15S	C	-	1	0	ZSCAN5A	61428185	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.081000	0.11321	-0.084000	0.12595	0.529000	0.55759	TGC		0.468	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303		8	99	0	0	0	1	0	8	99				
PCSK1	5122	broad.mit.edu	37	5	95748058	95748058	+	Silent	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:95748058C>T	ENST00000311106.3	-	7	1083	c.846G>A	c.(844-846)cgG>cgA	p.R282R	PCSK1_ENST00000513085.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.R235R	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	282	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTGGGCTAGCCGGCCAGGCC	0.478																																						uc003kls.2																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(844-846)cgG>cgA		Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						101.0	104.0	103.0					5																	95748058		2203	4300	6503	SO:0001819	synonymous_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95748058C>T		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.846G>A	5.37:g.95748058C>T						PCSK1_uc010jbi.2_Silent_p.R43R|PCSK1_uc021ybq.1_Silent_p.R235R	p.R282R	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	6	1085	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	282			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	c.846G>A	CCDS4081.1																																																																																				0.478	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		4	127	0	0	0	1	0	4	127				
GLTSCR2	29997	broad.mit.edu	37	19	48254336	48254336	+	Silent	SNP	G	G	A			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr19:48254336G>A	ENST00000246802.5	+	4	608	c.570G>A	c.(568-570)cgG>cgA	p.R190R	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	190				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413). {ECO:0000305}.		intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCGTAGAGCGGCCCTTCTACG	0.647																																					Colon(58;613 1041 9473 10089 15241)	uc002phm.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15						c.(568-570)cgG>cgA		Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.							19.0	17.0	17.0					19																	48254336		2202	4300	6502	SO:0001819	synonymous_variant	29997					nucleolus		g.chr19:48254336G>A	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5		ENST00000246802.5:c.570G>A	19.37:g.48254336G>A						GLTSCR2_uc010elk.1_5'Flank	p.R190R	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)	3	594	+		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)	190	RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).				Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	Silent	SNP	ENST00000246802.5	37	c.570G>A	CCDS12705.1																																																																																				0.647	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		11	16	0	0	0	1	0	11	16				
DMRT3	58524	broad.mit.edu	37	9	990617	990617	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr9:990617C>T	ENST00000190165.2	+	2	1069	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	344					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGGTTTTCTGCCGACTCTAGC	0.582																																						uc003zgw.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1030-1032)gCc>gTc		Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.							103.0	96.0	99.0					9																	990617		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990617C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1031C>T	9.37:g.990617C>T	ENSP00000190165:p.Ala344Val						p.A344V	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	1	1069	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	344					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1031C>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787200	0.49997	.	.	ENSG00000064218	ENST00000190165	T	0.25414	1.8	4.95	4.95	0.65309	.	0.743799	0.12602	N	0.454575	T	0.21590	0.0520	N	0.24115	0.695	0.28217	N	0.926708	B	0.24258	0.1	B	0.21708	0.036	T	0.10064	-1.0646	10	0.28530	T	0.3	-24.3838	18.2198	0.89898	0.0:1.0:0.0:0.0	.	344	Q9NQL9	DMRT3_HUMAN	V	344	ENSP00000190165:A344V	ENSP00000190165:A344V	A	+	2	0	DMRT3	980617	0.779000	0.28652	0.035000	0.18076	0.853000	0.48598	5.390000	0.66261	2.308000	0.77769	0.561000	0.74099	GCC		0.582	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		4	158	0	0	0	1	0	4	158				
SLC46A1	113235	broad.mit.edu	37	17	26733056	26733056	+	Missense_Mutation	SNP	T	T	G			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr17:26733056T>G	ENST00000440501.1	-	1	172	c.77A>C	c.(76-78)gAg>gCg	p.E26A	SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.1_ENST00000583956.1_RNA|CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000321666.5_Missense_Mutation_p.E26A	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	26					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GACCAGCGGCTCTACCGGGCC	0.716																																						uc002hbf.2																			0				lung(5)	5						c.(76-78)gAg>gCg		Homo sapiens solute carrier family 46 (folate transporter), member 1 (SLC46A1), transcript variant 1, mRNA.	Folic Acid(DB00158)						9.0	11.0	10.0					17																	26733056		1891	4068	5959	SO:0001583	missense	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26733056T>G	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.77A>C	17.37:g.26733056T>G	ENSP00000395653:p.Glu26Ala					SLC46A1_uc021ttr.1_Missense_Mutation_p.E26A|SLC46A1_uc010wak.2_Missense_Mutation_p.E26A	p.E26A	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	0	175	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		26					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	ENST00000440501.1	37	c.77A>C		.	.	.	.	.	.	.	.	.	.	t	27.5	4.834627	0.91036	.	.	ENSG00000076351	ENST00000440501;ENST00000321666	T;T	0.58060	0.54;0.36	4.62	3.54	0.40534	.	0.052253	0.85682	D	0.000000	T	0.67979	0.2951	.	.	.	0.80722	D	1	D;P;P	0.67145	0.996;0.901;0.841	D;P;B	0.68943	0.961;0.634;0.283	T	0.69057	-0.5246	9	0.56958	D	0.05	-12.3525	10.3403	0.43873	0.0:0.0782:0.0:0.9218	.	26;26;26	B4DJ17;Q96NT5-2;Q96NT5	.;.;PCFT_HUMAN	A	26	ENSP00000395653:E26A;ENSP00000318828:E26A	ENSP00000318828:E26A	E	-	2	0	SLC46A1	23757183	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.947000	0.63583	0.905000	0.36596	0.456000	0.33151	GAG		0.716	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		6	9	0	0	0	1	0	6	9				
FNIP1	96459	broad.mit.edu	37	5	131008166	131008166	+	Silent	SNP	T	T	C			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:131008166T>C	ENST00000510461.1	-	14	2066	c.1971A>G	c.(1969-1971)gaA>gaG	p.E657E	FNIP1_ENST00000307954.8_Silent_p.E612E|FNIP1_ENST00000307968.7_Silent_p.E629E|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	657					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CAGCATTTTCTTCTTGGCAGT	0.393																																						uc003kvs.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(1969-1971)gaA>gaG		Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.							125.0	128.0	127.0					5																	131008166		2203	4300	6503	SO:0001819	synonymous_variant	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity	g.chr5:131008166T>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.1971A>G	5.37:g.131008166T>C						RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Silent_p.E629E|RAPGEF6_uc010jdm.1_Silent_p.E612E	p.E657E	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	13	2113	-			0					D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.1971A>G	CCDS34227.1																																																																																				0.393	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1	NM_133372		11	323	0	0	0	1	0	11	323				
ADAM21	8747	broad.mit.edu	37	14	70924858	70924858	+	Silent	SNP	T	T	A			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr14:70924858T>A	ENST00000603540.1	+	2	900	c.642T>A	c.(640-642)gtT>gtA	p.V214V	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.V214V	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	214	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.|Poly-Val.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGCTAGTTGTTGTGGTGAACC	0.433																																						uc001xmd.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(640-642)gtT>gtA		Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.							59.0	63.0	62.0					14																	70924858		2202	4296	6498	SO:0001819	synonymous_variant	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924858T>A	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.642T>A	14.37:g.70924858T>A						ADAM21_uc021rvq.1_Silent_p.V214V	p.V214V	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	900	+			214			Peptidase M12B.|Poly-Val.		O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	c.642T>A	CCDS9804.1																																																																																				0.433	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			71	79	0	0	0	1	0	71	79				
GRB10	2887	broad.mit.edu	37	7	50674044	50674044	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:50674044G>A	ENST00000401949.1	-	14	1731	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	GRB10_ENST00000403097.1_Missense_Mutation_p.S415L|GRB10_ENST00000398810.2_Missense_Mutation_p.S363L|GRB10_ENST00000335866.3_Missense_Mutation_p.S363L|GRB10_ENST00000398812.2_Missense_Mutation_p.S421L|GRB10_ENST00000402578.1_Missense_Mutation_p.S363L|GRB10_ENST00000439599.1_Missense_Mutation_p.S415L|GRB10_ENST00000406641.1_Missense_Mutation_p.S363L|GRB10_ENST00000407526.1_Missense_Mutation_p.S363L|GRB10_ENST00000357271.5_Missense_Mutation_p.S375L|GRB10_ENST00000402497.1_Missense_Mutation_p.S363L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	421					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACTGGCGTCGAGAACGGGGA	0.527									Russell-Silver syndrome																													uc003tpi.2																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1261-1263)tCg>tTg		Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.							107.0	111.0	110.0					7																	50674044		1974	4147	6121	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding	g.chr7:50674044G>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1262C>T	7.37:g.50674044G>A	ENSP00000385770:p.Ser421Leu					GRB10_uc003tph.3_Missense_Mutation_p.S363L|GRB10_uc003tpj.2_Missense_Mutation_p.S375L|GRB10_uc003tpk.2_Missense_Mutation_p.S421L|GRB10_uc010kzb.2_Missense_Mutation_p.S363L|GRB10_uc003tpl.2_Missense_Mutation_p.S415L|GRB10_uc003tpm.2_Missense_Mutation_p.S363L	p.S421L	NM_005311	NP_005302	Q13322	GRB10_HUMAN			10	1308	-	Glioma(55;0.08)|all_neural(89;0.245)		421					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1262C>T	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.302882	0.23736	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	D;D;D;D;D;D;D;D;D;D;D	0.83506	-1.6;-1.6;-1.73;-1.73;-1.73;-1.6;-1.73;-1.54;-1.73;-1.6;-1.73	5.34	2.4	0.29515	.	0.342170	0.31772	N	0.007087	T	0.79405	0.4440	M	0.71581	2.175	0.53005	D	0.999961	B;B;B	0.17268	0.012;0.021;0.003	B;B;B	0.15870	0.008;0.014;0.004	T	0.71388	-0.4608	10	0.46703	T	0.11	-0.8056	8.8516	0.35203	0.0709:0.0:0.6544:0.2747	.	415;375;421	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	L	421;415;363;363;363;415;363;375;363;421;363	ENSP00000381793:S421L;ENSP00000406716:S415L;ENSP00000338543:S363L;ENSP00000381790:S363L;ENSP00000385189:S363L;ENSP00000385544:S415L;ENSP00000385366:S363L;ENSP00000349818:S375L;ENSP00000385046:S363L;ENSP00000385770:S421L;ENSP00000385748:S363L	ENSP00000338543:S363L	S	-	2	0	GRB10	50641538	1.000000	0.71417	0.003000	0.11579	0.051000	0.14879	5.293000	0.65680	0.167000	0.19631	-0.136000	0.14681	TCG		0.527	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			10	209	0	0	0	1	0	10	209				
BATF	10538	broad.mit.edu	37	14	76012817	76012817	+	Silent	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr14:76012817C>T	ENST00000286639.6	+	3	439	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	BATF_ENST00000555504.1_Intron|BATF_ENST00000555795.1_3'UTR	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	61	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GAGCGAAGACCTGGAGAAACA	0.597																																						uc001xrr.3																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(181-183)Ctg>Ttg		Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.							63.0	52.0	56.0					14																	76012817		2203	4300	6503	SO:0001819	synonymous_variant	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:76012817C>T	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"""basic leucine zipper proteins"""	958	protein-coding gene	gene with protein product	"""activating transcription factor B"", ""SF-HT-activated gene 2"""	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.181C>T	14.37:g.76012817C>T							p.L61L	NM_006399	NP_006390	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	2	423	+			61			Leucine-zipper.			Silent	SNP	ENST00000286639.6	37	c.181C>T	CCDS9843.1																																																																																				0.597	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1	NM_006399		7	65	0	0	0	1	0	7	65				
PLCE1	51196	broad.mit.edu	37	10	96066243	96066243	+	Silent	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr10:96066243C>T	ENST00000371380.3	+	25	5917	c.5682C>T	c.(5680-5682)gtC>gtT	p.V1894V	PLCE1_ENST00000260766.3_Silent_p.V1894V|PLCE1_ENST00000371385.3_Silent_p.V1586V|PLCE1_ENST00000371375.1_Silent_p.V1586V			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1894	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCATTGAAGTCGACGTCCTGG	0.537																																						uc001kjk.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(5680-5682)gtC>gtT		Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.							138.0	138.0	138.0					10																	96066243		2025	4177	6202	SO:0001819	synonymous_variant	51196				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity	g.chr10:96066243C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5682C>T	10.37:g.96066243C>T						PLCE1_uc010qnx.2_Silent_p.V1878V|PLCE1_uc001kjm.3_Silent_p.V1586V|PLCE1_uc001kjp.3_Silent_p.V252V	p.V1894V	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			25	6316	+		Colorectal(252;0.0458)	1894			C2.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.5682C>T	CCDS41552.1																																																																																				0.537	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		29	183	0	0	0	1	0	29	183				
CCL23	6368	broad.mit.edu	37	17	34340319	34340319	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr17:34340319C>T	ENST00000591423.1	-	4	345	c.281G>A	c.(280-282)tGt>tAt	p.C94Y	RP11-104J23.1_ENST00000590192.1_RNA|RP11-104J23.1_ENST00000588294.1_RNA|RP11-104J23.2_ENST00000590149.1_lincRNA|CCL23_ENST00000293280.2_Missense_Mutation_p.C111Y	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	94					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGTTGGCACAGAAACGTCG	0.522																																						uc002hks.1																			0				large_intestine(2)|liver(1)|lung(2)|prostate(1)	6						c.(331-333)tGt>tAt		Homo sapiens chemokine (C-C motif) ligand 23 (CCL23), transcript variant CKbeta8-1, mRNA.	Treprostinil(DB00374)						82.0	66.0	72.0					17																	34340319		2203	4300	6503	SO:0001583	missense	6368				G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding	g.chr17:34340319C>T	U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"""Chemokine ligands"", ""Endogenous ligands"""	10622	protein-coding gene	gene with protein product		602494	"""small inducible cytokine subfamily A (Cys-Cys), member 23"""	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.281G>A	17.37:g.34340319C>T	ENSP00000465954:p.Cys94Tyr					CCL23_uc002hkt.1_Missense_Mutation_p.C94Y	p.C111Y	NM_005064	NP_005055	P55773	CCL23_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	403	-		Ovarian(249;0.17)	94					B7ZKQ3|O00174|O75950|Q52LD4	Missense_Mutation	SNP	ENST00000591423.1	37	c.332G>A	CCDS59282.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897014	0.52121	.	.	ENSG00000167236	ENST00000293280	D	0.92858	-3.12	3.71	3.71	0.42584	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.64402	D	0.000001	D	0.97164	0.9073	H	0.97340	3.985	0.40082	D	0.976149	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97718	1.0195	10	0.87932	D	0	.	11.1709	0.48571	0.0:1.0:0.0:0.0	.	94;111	P55773;P55773-2	CCL23_HUMAN;.	Y	111	ENSP00000293280:C111Y	ENSP00000293280:C111Y	C	-	2	0	CCL23	31364432	1.000000	0.71417	0.630000	0.29268	0.008000	0.06430	3.469000	0.53093	2.062000	0.61559	0.511000	0.50034	TGT		0.522	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450228.1	NM_005064, NM_145898		20	24	0	0	0	1	0	20	24				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		58	77	0	0	0	1	0	58	77				
MATR3	9782	broad.mit.edu	37	5	138643134	138643134	+	Silent	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:138643134C>T	ENST00000394805.3	+	2	365	c.30C>T	c.(28-30)ctC>ctT	p.L10L	MATR3_ENST00000502499.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000394800.2_Silent_p.L10L|MATR3_ENST00000510056.1_Silent_p.L10L|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000361059.2_Silent_p.L10L|MATR3_ENST00000509990.1_Silent_p.L10L|MATR3_ENST00000502929.1_Silent_p.L10L	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	10					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTCATCTCTCAGTAGGGACT	0.428																																						uc003ldw.3																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(28-30)ctC>ctT		Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.							106.0	105.0	105.0					5																	138643134		2203	4300	6503	SO:0001819	synonymous_variant	9782					nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding	g.chr5:138643134C>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.30C>T	5.37:g.138643134C>T						MATR3_uc003lds.3_Silent_p.L10L|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Silent_p.L10L|MATR3_uc010jfb.3_Silent_p.L10L|MATR3_uc003ldx.3_Silent_p.L10L|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Silent_p.L10L|MATR3_uc011czb.2_Intron	p.L10L	NM_018834	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		2	433	+			10					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	c.30C>T	CCDS4210.1																																																																																				0.428	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		8	193	0	0	0	1	0	8	193				
PDK3	5165	broad.mit.edu	37	X	24483609	24483609	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chrX:24483609C>T	ENST00000379162.4	+	1	272	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S	PDK3_ENST00000441463.2_Missense_Mutation_p.P13S	NM_005391.4	NP_005382.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	13					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|peptidyl-serine phosphorylation (GO:0018105)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|regulation of reactive oxygen species metabolic process (GO:2000377)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCAGCCGGTGCCCAAGCAGAT	0.687																																						uc004dbh.3																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(37-39)Ccc>Tcc		Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							14.0	16.0	15.0					X																	24483609		2195	4286	6481	SO:0001583	missense	5165				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	g.chrX:24483609C>T	L42452	CCDS14212.1, CCDS48088.1	Xp22.12	2008-02-05	2005-11-16		ENSG00000067992	ENSG00000067992			8811	protein-coding gene	gene with protein product		300906	"""pyruvate dehydrogenase kinase, isoenzyme 3"""			7499431	Standard	NM_001142386		Approved		uc004dbh.3	Q15120	OTTHUMG00000021269	ENST00000379162.4:c.37C>T	X.37:g.24483609C>T	ENSP00000368460:p.Pro13Ser					PDK3_uc004dbg.3_Missense_Mutation_p.P13S	p.P13S	NM_001142386	NP_001135858	Q15120	PDK3_HUMAN			0	266	+			13					B4DXG6	Missense_Mutation	SNP	ENST00000379162.4	37	c.37C>T	CCDS14212.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035932	0.54896	.	.	ENSG00000067992	ENST00000379162;ENST00000441463	T;T	0.40225	1.04;1.58	4.2	4.2	0.49525	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (2);	0.318671	0.33161	N	0.005210	T	0.29945	0.0749	L	0.31065	0.9	0.46823	D	0.999213	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.09314	-1.0680	10	0.10111	T	0.7	.	15.7857	0.78300	0.0:1.0:0.0:0.0	.	13;13	B4DXG6;Q15120	.;PDK3_HUMAN	S	13	ENSP00000368460:P13S;ENSP00000387536:P13S	ENSP00000368460:P13S	P	+	1	0	PDK3	24393530	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.329000	0.65892	2.077000	0.62373	0.292000	0.19580	CCC		0.687	PDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056097.1	NM_005391		8	16	0	0	0	1	0	8	16				
SLC6A18	348932	broad.mit.edu	37	5	1232375	1232375	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0Y3-01B-11D-A10S-08	TCGA-DE-A0Y3-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7dfcfe29-3900-4d7b-8067-60c51584b0b1	22898cc2-01f2-4e03-a2a5-a4c6f9f836ce	g.chr5:1232375G>A	ENST00000324642.3	+	2	325	c.202G>A	c.(202-204)Ggg>Agg	p.G68R	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G68R	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	68					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGTCTTCGAGGGGATCCCCAT	0.687																																						uc003jby.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(202-204)Ggg>Agg		Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.							46.0	46.0	46.0					5																	1232375		2202	4300	6502	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1232375G>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.202G>A	5.37:g.1232375G>A	ENSP00000323549:p.Gly68Arg						p.G68R	NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		1	325	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		68						Missense_Mutation	SNP	ENST00000324642.3	37	c.202G>A	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969206	0.74246	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	D;D	0.87729	-2.29;-2.29	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95921	0.8672	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97235	0.9887	10	0.87932	D	0	.	17.0443	0.86498	0.0:0.0:1.0:0.0	.	68	Q96N87	S6A18_HUMAN	R	68	ENSP00000323549:G68R;ENSP00000296821:G68R	ENSP00000296821:G68R	G	+	1	0	SLC6A18	1285375	1.000000	0.71417	1.000000	0.80357	0.040000	0.13550	8.757000	0.91657	2.560000	0.86352	0.491000	0.48974	GGG		0.687	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		20	16	0	0	0	1	0	20	16				
