#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
XRN1	54464	broad.mit.edu	37	3	142133126	142133126	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr3:142133126G>A	ENST00000264951.4	-	14	1561	c.1444C>T	c.(1444-1446)Cct>Tct	p.P482S	XRN1_ENST00000392981.2_Missense_Mutation_p.P482S	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	482					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAATGATAAGGATAATACCTA	0.294																																						uc003eus.3																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(1444-1446)Cct>Tct		Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.							97.0	99.0	98.0					3																	142133126		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding	g.chr3:142133126G>A	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1444C>T	3.37:g.142133126G>A	ENSP00000264951:p.Pro482Ser		Somatic				XRN1_uc010huu.3_5'Flank|XRN1_uc003eut.3_Missense_Mutation_p.P482S|XRN1_uc003euu.3_Missense_Mutation_p.P482S|XRN1_uc003euv.1_Missense_Mutation_p.P343S	p.P482S	NM_019001	NP_061874	WXS	Illumina GAIIx	Phase_I	Q8IZH2	XRN1_HUMAN			13	1511	-			482					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.1444C>T	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469159	0.84533	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.74526	-0.85;-0.85	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.88262	0.6389	M	0.87827	2.91	0.80722	D	1	D;D;D	0.69078	0.989;0.997;0.995	D;D;D	0.73380	0.95;0.98;0.955	D	0.89410	0.3702	10	0.59425	D	0.04	-10.0391	19.2343	0.93851	0.0:0.0:1.0:0.0	.	343;482;482	B3KW17;Q8IZH2-2;Q8IZH2	.;.;XRN1_HUMAN	S	482	ENSP00000264951:P482S;ENSP00000376707:P482S	ENSP00000264951:P482S	P	-	1	0	XRN1	143615816	1.000000	0.71417	0.936000	0.37596	0.964000	0.63967	9.041000	0.93788	2.636000	0.89361	0.650000	0.86243	CCT		0.294	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		27	51	0	0	0	1	0	27	51				
FAM222A	84915	broad.mit.edu	37	12	110206377	110206377	+	Missense_Mutation	SNP	G	G	A	rs200837548		TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr12:110206377G>A	ENST00000538780.1	+	3	1359	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A215T	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	215	Pro-rich.																GGCCCCGGGCGCCGCACCCCC	0.711																																						uc001tpd.2																			0											c.(643-645)Gcc>Acc		Homo sapiens chromosome 12 open reading frame 34 (C12orf34), mRNA.							17.0	19.0	19.0					12																	110206377		2142	4198	6340	SO:0001583	missense	84915							g.chr12:110206377G>A	AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 34"""	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.643G>A	12.37:g.110206377G>A	ENSP00000443292:p.Ala215Thr		Somatic				FAM222A-AS1_uc010sxs.2_Intron|FAM222A-AS1_uc001tpe.3_Intron	p.A215T	NM_032829	NP_116218	WXS	Illumina GAIIx	Phase_I	Q5U5X8	CL034_HUMAN			2	1205	+			215			Pro-rich.		Q8NCD5|Q96SP6	Missense_Mutation	SNP	ENST00000538780.1	37	c.643G>A	CCDS9133.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348054	0.24426	.	.	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.29655	1.56;1.56	3.82	2.83	0.33086	.	0.218641	0.23279	N	0.049922	T	0.18215	0.0437	N	0.22421	0.69	0.46203	D	0.998925	B	0.26400	0.148	B	0.22386	0.039	T	0.07635	-1.0762	10	0.51188	T	0.08	-6.8323	7.7831	0.29077	0.0:0.1394:0.629:0.2315	.	215	Q5U5X8	CL034_HUMAN	T	215	ENSP00000443292:A215T;ENSP00000351783:A215T	ENSP00000351783:A215T	A	+	1	0	C12orf34	108690760	0.070000	0.21116	0.441000	0.26858	0.987000	0.75469	0.897000	0.28390	1.989000	0.58080	0.491000	0.48974	GCC		0.711	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1	NM_032829		6	71	0	0	0	1	0	6	71				
SLC25A10	1468	broad.mit.edu	37	17	79683052	79683052	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr17:79683052G>A	ENST00000350690.5	+	5	477	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	SLC25A10_ENST00000331531.5_Missense_Mutation_p.V131M|SLC25A10_ENST00000541223.1_Missense_Mutation_p.V286M|SLC25A10_ENST00000545862.1_Missense_Mutation_p.V88M|SLC25A10_ENST00000571730.1_Missense_Mutation_p.V286M	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	131					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GCAGAACGACGTGAAGCTGCC	0.701																																						uc010wut.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(856-858)Gtg>Atg		Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	Succinic acid(DB00139)						32.0	30.0	31.0					17																	79683052		2194	4294	6488	SO:0001583	missense	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79683052G>A		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.391G>A	17.37:g.79683052G>A	ENSP00000345580:p.Val131Met		Somatic				SLC25A10_uc002kbi.3_Missense_Mutation_p.V131M|SLC25A10_uc010dif.3_Missense_Mutation_p.V131M|SLC25A10_uc010wuu.2_Missense_Mutation_p.V85M	p.V286M	NM_012140	NP_036272	WXS	Illumina GAIIx	Phase_I	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		8	988	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		131					Q542Z3|Q96BA1|Q96IP1	Missense_Mutation	SNP	ENST00000350690.5	37	c.856G>A	CCDS11786.1	.	.	.	.	.	.	.	.	.	.	G	5.629	0.300816	0.10678	.	.	ENSG00000183048	ENST00000541223;ENST00000331531;ENST00000350690;ENST00000545862	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	3.9	-3.85	0.04243	Mitochondrial carrier domain (2);	0.353469	0.31301	N	0.007888	T	0.60222	0.2252	N	0.21324	0.655	0.45464	D	0.998437	B;B;B	0.17038	0.012;0.02;0.007	B;B;B	0.17098	0.017;0.014;0.014	T	0.24261	-1.0165	10	0.44086	T	0.13	-9.8138	12.4186	0.55508	0.3972:0.0:0.6028:0.0	.	286;131;131	B4DLN1;Q9UBX3-2;Q9UBX3	.;.;DIC_HUMAN	M	286;131;131;88	ENSP00000439565:V286M;ENSP00000328403:V131M;ENSP00000345580:V131M;ENSP00000446242:V88M	ENSP00000328403:V131M	V	+	1	0	SLC25A10	77293457	0.756000	0.28383	0.692000	0.30179	0.175000	0.22909	0.177000	0.16801	-0.852000	0.04141	0.205000	0.17691	GTG		0.701	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			7	14	0	0	0	1	0	7	14				
DUSP27	92235	broad.mit.edu	37	1	167095889	167095889	+	Silent	SNP	G	G	A	rs371011111	byFrequency	TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:167095889G>A	ENST00000361200.2	+	6	1687	c.1521G>A	c.(1519-1521)agG>agA	p.R507R	DUSP27_ENST00000443333.1_Silent_p.R507R|DUSP27_ENST00000271385.5_Silent_p.R507R|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	507					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGGCAGACAGGAGCTCAGAAG	0.597													G|||	3	0.000599042	0.0023	0.0	5008	,	,		17760	0.0		0.0	False		,,,				2504	0.0					uc001geb.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1519-1521)agG>agA		Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	58.0	53.0	55.0		1521	-9.4	0.0	1		55	0,8600		0,0,4300	no	coding-synonymous	DUSP27	NM_001080426.1		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		507/1159	167095889	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095889G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1521G>A	1.37:g.167095889G>A			Somatic					p.R507R	NM_001080426	NP_001073895	WXS	Illumina GAIIx	Phase_I	Q5VZP5	DUS27_HUMAN			4	1537	+			507					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.1521G>A	CCDS30932.1																																																																																				0.597	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		22	51	0	0	0	1	0	22	51				
MTTP	4547	broad.mit.edu	37	4	100504662	100504662	+	Silent	SNP	A	A	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr4:100504662A>C	ENST00000265517.5	+	3	584	c.381A>C	c.(379-381)ctA>ctC	p.L127L	MTTP_ENST00000422897.2_Silent_p.L127L|MTTP_ENST00000511045.1_Silent_p.L154L|MTTP_ENST00000457717.1_Silent_p.L127L			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	127	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TCCTTCATCTAATCCATGGAA	0.388																																						uc011cej.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(460-462)ctA>ctC		Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	Hesperetin(DB01094)						77.0	84.0	81.0					4																	100504662		2201	4300	6501	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100504662A>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.381A>C	4.37:g.100504662A>C			Somatic				MTTP_uc003hvc.4_Silent_p.L127L|MTTP_uc003hvb.3_Silent_p.L127L	p.L154L	NM_000253	NP_000244	WXS	Illumina GAIIx	Phase_I	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	2	475	+			127			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.462A>C	CCDS3651.1																																																																																				0.388	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3			4	78	0	0	0	1	0	4	78				
EVPL	2125	broad.mit.edu	37	17	74003919	74003919	+	Silent	SNP	T	T	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr17:74003919T>C	ENST00000301607.3	-	22	5620	c.5367A>G	c.(5365-5367)tcA>tcG	p.S1789S	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Silent_p.S1811S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1789	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CGATGGAGAGTGAGGAGCTTG	0.607																																						uc010wss.1																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5431-5433)tcA>tcG		Homo sapiens envoplakin (EVPL), mRNA.							88.0	90.0	89.0					17																	74003919		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003919T>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5367A>G	17.37:g.74003919T>C			Somatic				EVPL_uc002jqi.2_Silent_p.S1789S|EVPL_uc010wst.1_Silent_p.S1259S	p.S1811S	NM_001988	NP_001979	WXS	Illumina GAIIx	Phase_I	Q92817	EVPL_HUMAN			21	5661	-			1789			Globular 2.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.5433A>G	CCDS11737.1																																																																																				0.607	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		4	74	0	0	0	1	0	4	74				
ADAT1	23536	broad.mit.edu	37	16	75634205	75634205	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr16:75634205G>A	ENST00000307921.3	-	11	1563	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	RP11-77K12.8_ENST00000564489.1_RNA|ADAT1_ENST00000568478.1_5'UTR	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	473	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)	p.A473V(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GTAAGAGGACGCAGCCTCCTT	0.532																																						uc002feo.2																			1	Substitution - Missense(1)	p.A473V(2)	large_intestine(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						c.(1417-1419)gCg>gTg		Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA.							111.0	104.0	106.0					16																	75634205		2198	4300	6498	SO:0001583	missense	23536				tRNA processing		RNA binding|metal ion binding|tRNA-specific adenosine deaminase activity	g.chr16:75634205G>A	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.1418C>T	16.37:g.75634205G>A	ENSP00000310015:p.Ala473Val		Somatic				ADAT1_uc002fep.2_Missense_Mutation_p.A324V	p.A473V	NM_012091	NP_036223	WXS	Illumina GAIIx	Phase_I	Q9BUB4	ADAT1_HUMAN			10	1587	-			473			A to I editase.		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	c.1418C>T	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193833	0.78902	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.94862	-3.54	5.69	5.69	0.88448	Adenosine deaminase/editase (3);	0.099857	0.64402	D	0.000002	D	0.96399	0.8825	M	0.70842	2.15	0.49130	D	0.999757	D	0.76494	0.999	D	0.65684	0.937	D	0.95341	0.8438	10	0.35671	T	0.21	-4.4372	15.32	0.74115	0.0:0.0:1.0:0.0	.	473	Q9BUB4	ADAT1_HUMAN	V	473;444	ENSP00000310015:A473V	ENSP00000310015:A473V	A	-	2	0	ADAT1	74191706	0.996000	0.38824	0.202000	0.23494	0.812000	0.45895	5.924000	0.70054	2.677000	0.91161	0.655000	0.94253	GCG		0.532	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		31	72	0	0	0	1	0	31	72				
TCEAL3	85012	broad.mit.edu	37	X	102864558	102864558	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chrX:102864558G>A	ENST00000372628.1	+	3	924	c.566G>A	c.(565-567)aGg>aAg	p.R189K	TCEAL3_ENST00000243286.3_Missense_Mutation_p.R189K|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.R189K			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						GGTGGAGGTAGGGGCCAGAGG	0.507																																						uc004ekq.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						c.(565-567)aGg>aAg		Homo sapiens transcription elongation factor A (SII)-like 3 (TCEAL3), transcript variant 1, mRNA.							147.0	137.0	140.0					X																	102864558		2203	4300	6503	SO:0001583	missense	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864558G>A	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.566G>A	X.37:g.102864558G>A	ENSP00000361711:p.Arg189Lys		Somatic				TCEAL3_uc004ekr.3_Missense_Mutation_p.R189K|TCEAL3_uc022cbu.1_Missense_Mutation_p.R189K	p.R189K	NM_001006933	NP_116315	WXS	Illumina GAIIx	Phase_I	Q969E4	TCAL3_HUMAN			2	828	+			189					D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	c.566G>A	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092544	0.36952	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.38077	1.16;1.16;1.16	4.59	3.73	0.42828	.	0.000000	0.41712	D	0.000824	T	0.18383	0.0441	N	0.14661	0.345	0.27528	N	0.951174	B	0.28512	0.214	B	0.20767	0.031	T	0.10109	-1.0644	10	0.36615	T	0.2	.	7.3982	0.26948	0.1171:0.0:0.8829:0.0	.	189	Q969E4	TCAL3_HUMAN	K	189	ENSP00000361711:R189K;ENSP00000361710:R189K;ENSP00000243286:R189K	ENSP00000243286:R189K	R	+	2	0	TCEAL3	102751214	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	2.205000	0.42770	1.273000	0.44346	0.538000	0.68166	AGG		0.507	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		12	190	0	0	0	1	0	12	190				
SALL3	27164	broad.mit.edu	37	18	76754115	76754115	+	Silent	SNP	G	G	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr18:76754115G>A	ENST00000537592.2	+	2	2124	c.2124G>A	c.(2122-2124)aaG>aaA	p.K708K	SALL3_ENST00000575389.2_Silent_p.K708K|SALL3_ENST00000536229.3_Silent_p.K575K	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	708					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCCGTTCAAGTGCAAGATCT	0.667																																						uc002lmt.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2122-2124)aaG>aaA		Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.							35.0	33.0	34.0					18																	76754115		2203	4299	6502	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754115G>A	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2124G>A	18.37:g.76754115G>A			Somatic				SALL3_uc010dra.3_Silent_p.K315K	p.K708K	NM_171999	NP_741996	WXS	Illumina GAIIx	Phase_I	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	2124	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	708					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.2124G>A	CCDS12013.1																																																																																				0.667	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		27	37	0	0	0	1	0	27	37				
RXFP2	122042	broad.mit.edu	37	13	32371461	32371461	+	Missense_Mutation	SNP	C	C	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr13:32371461C>A	ENST00000298386.2	+	17	1981	c.1910C>A	c.(1909-1911)gCa>gAa	p.A637E	RXFP2_ENST00000380314.1_Missense_Mutation_p.A613E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	637					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GTGGCTGTTGCAAATCGTTTC	0.398																																						uc001utt.3																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(1909-1911)gCa>gAa		Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.							211.0	208.0	209.0					13																	32371461		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32371461C>A	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1910C>A	13.37:g.32371461C>A	ENSP00000298386:p.Ala637Glu		Somatic				RXFP2_uc010aba.3_Missense_Mutation_p.A613E	p.A637E	NM_130806	NP_570718	WXS	Illumina GAIIx	Phase_I	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	16	1981	+		Lung SC(185;0.0262)	637					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.1910C>A	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399773	0.83120	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.74947	-0.89;-0.89	5.66	5.66	0.87406	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89350	0.6690	M	0.92122	3.275	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91443	0.5175	10	0.87932	D	0	.	16.0364	0.80631	0.1348:0.8652:0.0:0.0	.	613;637	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	E	613;637	ENSP00000369670:A613E;ENSP00000298386:A637E	ENSP00000298386:A637E	A	+	2	0	RXFP2	31269461	0.998000	0.40836	0.901000	0.35422	0.971000	0.66376	3.688000	0.54699	2.680000	0.91292	0.655000	0.94253	GCA		0.398	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		15	91	0	0	0	1	0	15	91				
RSBN1L	222194	broad.mit.edu	37	7	77408244	77408244	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr7:77408244T>C	ENST00000334955.8	+	8	2327	c.2300T>C	c.(2299-2301)gTg>gCg	p.V767A	RSBN1L_ENST00000445288.1_Missense_Mutation_p.V497A	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	767						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAAGAACCTGTGAATGTTAAT	0.308																																						uc010ldt.1																			0				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2299-2301)gTg>gCg		Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.							67.0	63.0	64.0					7																	77408244		1837	4086	5923	SO:0001583	missense	222194					nucleus		g.chr7:77408244T>C	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.2300T>C	7.37:g.77408244T>C	ENSP00000334040:p.Val767Ala		Somatic					p.V767A	NM_198467	NP_940869	WXS	Illumina GAIIx	Phase_I	Q6PCB5	RSBNL_HUMAN			7	2344	+			767					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.2300T>C	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	T	5.111	0.206157	0.09704	.	.	ENSG00000187257	ENST00000334955;ENST00000445288	.	.	.	5.84	3.38	0.38709	.	0.663319	0.15121	N	0.279415	T	0.26376	0.0644	L	0.36672	1.1	0.20764	N	0.999854	B	0.27068	0.167	B	0.24394	0.053	T	0.28776	-1.0033	9	0.05351	T	0.99	-0.1811	8.2887	0.31943	0.0:0.0667:0.3857:0.5476	.	767	Q6PCB5	RSBNL_HUMAN	A	767;497	.	ENSP00000334040:V767A	V	+	2	0	RSBN1L	77246180	0.924000	0.31332	0.877000	0.34402	0.993000	0.82548	1.316000	0.33620	0.424000	0.26061	0.482000	0.46254	GTG		0.308	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3	NM_198467		4	34	0	0	0	1	0	4	34				
PLIN5	440503	broad.mit.edu	37	19	4523617	4523617	+	Missense_Mutation	SNP	C	C	G	rs372681667		TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr19:4523617C>G	ENST00000381848.3	-	8	1395	c.1315G>C	c.(1315-1317)Ggg>Cgg	p.G439R		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	439	Interaction with PNPLA2 and ABHD5. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CAGATGTCCCCGGCAACACCC	0.692											OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mas.3																			0				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						c.(1315-1317)Ggg>Cgg		Homo sapiens perilipin 5 (PLIN5), mRNA.							79.0	91.0	87.0					19																	4523617		2044	4184	6228	SO:0001583	missense	440503					lipid particle		g.chr19:4523617C>G	DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.1315G>C	19.37:g.4523617C>G	ENSP00000371272:p.Gly439Arg		Somatic	OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	619		p.G439R	NM_001013706	NP_001013728	WXS	Illumina GAIIx	Phase_I	Q00G26	PLIN5_HUMAN			7	1368	-			439					A2RRC1|Q6ZS68	Missense_Mutation	SNP	ENST00000381848.3	37	c.1315G>C	CCDS42473.1	.	.	.	.	.	.	.	.	.	.	C	4.121	0.020571	0.08006	.	.	ENSG00000214456	ENST00000381848	T	0.12255	2.7	3.97	2.93	0.34026	.	0.811422	0.10588	N	0.657055	T	0.09158	0.0226	N	0.19112	0.55	0.09310	N	0.999992	B	0.09022	0.002	B	0.10450	0.005	T	0.36114	-0.9761	10	0.31617	T	0.26	.	7.8486	0.29440	0.0:0.8805:0.0:0.1195	.	439	Q00G26	PLIN5_HUMAN	R	439	ENSP00000371272:G439R	ENSP00000371272:G439R	G	-	1	0	PLIN5	4474617	0.000000	0.05858	0.004000	0.12327	0.017000	0.09413	0.352000	0.20113	0.658000	0.30925	-0.221000	0.12465	GGG		0.692	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706		76	157	0	0	0	1	0	76	157				
MDN1	23195	broad.mit.edu	37	6	90471411	90471411	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr6:90471411G>C	ENST00000369393.3	-	17	2528	c.2413C>G	c.(2413-2415)Caa>Gaa	p.Q805E	MDN1_ENST00000428876.1_Missense_Mutation_p.Q805E			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	805					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCATCTGTTGTTGGGCATGG	0.328																																						uc003pnn.1																			0		p.Q804H(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(2413-2415)Caa>Gaa		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.							158.0	150.0	153.0					6																	90471411		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90471411G>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2413C>G	6.37:g.90471411G>C	ENSP00000358400:p.Gln805Glu		Somatic				MDN1_uc003pno.1_Missense_Mutation_p.Q223E	p.Q805E	NM_014611	NP_055426	WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	16	2529	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	805					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.2413C>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874574	0.33069	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.17213	4.04;4.04;2.29	5.41	5.41	0.78517	ATPase, AAA+ type, core (1);	0.061993	0.64402	D	0.000003	T	0.04137	0.0115	N	0.08118	0	0.39889	D	0.973746	B;B	0.21147	0.052;0.028	B;B	0.30401	0.115;0.115	T	0.16158	-1.0412	10	0.02654	T	1	.	19.5497	0.95312	0.0:0.0:1.0:0.0	.	732;805	Q5T795;Q9NU22	.;MDN1_HUMAN	E	805;805;732	ENSP00000358400:Q805E;ENSP00000413970:Q805E;ENSP00000409664:Q732E	ENSP00000358400:Q805E	Q	-	1	0	MDN1	90528132	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	5.900000	0.69853	2.710000	0.92621	0.491000	0.48974	CAA		0.328	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	107	0	0	0	1	0	3	107				
COL3A1	1281	broad.mit.edu	37	2	189871146	189871146	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr2:189871146C>G	ENST00000304636.3	+	43	3339	c.3169C>G	c.(3169-3171)Cca>Gca	p.P1057A	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1057	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TCCTGTCGGTCCAGCTGGAAA	0.488																																						uc002uqj.1																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(3169-3171)Cca>Gca		Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						68.0	71.0	70.0					2																	189871146		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189871146C>G	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3169C>G	2.37:g.189871146C>G	ENSP00000304408:p.Pro1057Ala		Somatic					p.P1057A	NM_000090	NP_000081	WXS	Illumina GAIIx	Phase_I	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		42	3286	+			1057			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.3169C>G	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102041	0.56183	.	.	ENSG00000168542	ENST00000304636	D	0.96745	-4.11	5.35	4.48	0.54585	.	0.281313	0.25634	N	0.029334	D	0.96393	0.8823	L	0.58302	1.8	0.80722	D	1	B	0.29862	0.259	P	0.46275	0.51	D	0.94557	0.7759	10	0.20046	T	0.44	.	15.8201	0.78633	0.0:0.728:0.272:0.0	.	1057	P02461	CO3A1_HUMAN	A	1057	ENSP00000304408:P1057A	ENSP00000304408:P1057A	P	+	1	0	COL3A1	189579391	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.674000	0.46867	1.484000	0.48361	0.655000	0.94253	CCA		0.488	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		4	25	0	0	0	1	0	4	25				
ZSCAN20	7579	broad.mit.edu	37	1	33959841	33959841	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:33959841G>C	ENST00000361328.3	+	8	2050	c.1897G>C	c.(1897-1899)Gaa>Caa	p.E633Q		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	633					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCATGAGGATGAAGACCAGAT	0.438																																						uc001bxj.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(1897-1899)Gaa>Caa		Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.							68.0	65.0	66.0					1																	33959841		1884	4123	6007	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33959841G>C	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1897G>C	1.37:g.33959841G>C	ENSP00000355053:p.Glu633Gln		Somatic				ZSCAN20_uc009vui.3_Missense_Mutation_p.E632Q	p.E633Q	NM_145238	NP_660281	WXS	Illumina GAIIx	Phase_I	P17040	ZSC20_HUMAN			7	2064	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	633					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.1897G>C	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722179	0.30503	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.75	2.86	0.33363	.	0.204143	0.34088	N	0.004262	T	0.26376	0.0644	L	0.34521	1.04	0.09310	N	1	P;P	0.42203	0.773;0.664	B;B	0.40534	0.332;0.178	T	0.07443	-1.0772	9	0.33141	T	0.24	-3.3068	9.9071	0.41384	0.2302:0.0:0.7698:0.0	.	632;633	P17040-3;P17040	.;ZSC20_HUMAN	Q	633;567;567	.	ENSP00000324450:E633Q	E	+	1	0	ZSCAN20	33732428	0.925000	0.31364	0.627000	0.29227	0.342000	0.28953	1.722000	0.38042	0.785000	0.33685	-0.258000	0.10820	GAA		0.438	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		13	40	0	0	0	1	0	13	40				
TARBP1	6894	broad.mit.edu	37	1	234569236	234569236	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:234569236T>C	ENST00000040877.1	-	14	2313	c.2314A>G	c.(2314-2316)Agg>Ggg	p.R772G		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	772					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGGTTACCCCTTTTCCACCCA	0.398																																						uc001hwd.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(2314-2316)Agg>Ggg		Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.							138.0	133.0	135.0					1																	234569236		2203	4300	6503	SO:0001583	missense	6894				RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234569236T>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2314A>G	1.37:g.234569236T>C	ENSP00000040877:p.Arg772Gly		Somatic					p.R772G	NM_005646	NP_005637	WXS	Illumina GAIIx	Phase_I	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		13	2314	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	772					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.2314A>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.649575	0.29336	.	.	ENSG00000059588	ENST00000040877	T	0.06142	3.34	5.68	-6.86	0.01676	.	0.766887	0.12942	N	0.426530	T	0.04363	0.0120	L	0.44542	1.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36114	-0.9761	10	0.25106	T	0.35	-6.8367	7.5766	0.27939	0.0:0.2216:0.4085:0.3699	.	772	Q13395	TARB1_HUMAN	G	772	ENSP00000040877:R772G	ENSP00000040877:R772G	R	-	1	2	TARBP1	232635859	0.018000	0.18449	0.004000	0.12327	0.956000	0.61745	0.001000	0.13038	-1.185000	0.02716	0.533000	0.62120	AGG		0.398	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		3	63	0	0	0	1	0	3	63				
CCDC106	29903	broad.mit.edu	37	19	56160648	56160648	+	Missense_Mutation	SNP	C	C	G			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr19:56160648C>G	ENST00000586790.1	+	2	1013	c.109C>G	c.(109-111)Ctg>Gtg	p.L37V	CCDC106_ENST00000588740.1_Missense_Mutation_p.L37V|CCDC106_ENST00000591578.1_Missense_Mutation_p.L37V|CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000308964.3_Missense_Mutation_p.L37V			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	37						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTTTTACAGTCTGAGCCCCTC	0.592																																						uc002qlr.3																			0				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(109-111)Ctg>Gtg		Homo sapiens coiled-coil domain containing 106 (CCDC106), mRNA.							109.0	107.0	108.0					19																	56160648		2203	4300	6503	SO:0001583	missense	29903					nucleus		g.chr19:56160648C>G	AF054984	CCDS33118.1	19q13.42	2013-09-20			ENSG00000173581	ENSG00000173581			30181	protein-coding gene	gene with protein product		613478				8619474, 9110174	Standard	XM_005258827		Approved	HSU79303	uc002qlr.3	Q9BWC9	OTTHUMG00000180907	ENST00000586790.1:c.109C>G	19.37:g.56160648C>G	ENSP00000465757:p.Leu37Val		Somatic				CCDC106_uc021vcc.1_Missense_Mutation_p.L37V|CCDC106_uc021vcd.1_Missense_Mutation_p.L37V|CCDC106_uc002qls.3_Missense_Mutation_p.L37V	p.L37V	NM_013301	NP_037433	WXS	Illumina GAIIx	Phase_I	Q9BWC9	CC106_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)	2	844	+		Colorectal(82;0.00403)|Ovarian(87;0.133)	37					B3KUF9|D3K183|Q99786	Missense_Mutation	SNP	ENST00000586790.1	37	c.109C>G	CCDS33118.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757177	0.49468	.	.	ENSG00000173581	ENST00000308964	.	.	.	3.5	3.5	0.40072	.	0.000000	0.38720	N	0.001584	T	0.41811	0.1175	L	0.29908	0.895	0.80722	D	1	B	0.27229	0.172	B	0.26614	0.071	T	0.27706	-1.0066	9	0.23302	T	0.38	-31.6043	10.6973	0.45907	0.0:1.0:0.0:0.0	.	37	Q9BWC9	CC106_HUMAN	V	37	.	ENSP00000309681:L37V	L	+	1	2	CCDC106	60852460	0.998000	0.40836	1.000000	0.80357	0.933000	0.57130	2.652000	0.46682	1.981000	0.57761	0.561000	0.74099	CTG		0.592	CCDC106-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453593.1	NM_013301		3	150	0	0	0	1	0	3	150				
KDR	3791	broad.mit.edu	37	4	55964962	55964962	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr4:55964962C>T	ENST00000263923.4	-	16	2570	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	759					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCGTCTTTTCCTGGGCACCT	0.408			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.3				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(2275-2277)Gaa>Aaa		Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						91.0	91.0	91.0					4																	55964962		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55964962C>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2275G>A	4.37:g.55964962C>T	ENSP00000263923:p.Glu759Lys	TSP Lung(20;0.16)	Somatic				KDR_uc003hat.1_Missense_Mutation_p.E759K	p.E759K	NM_002253	NP_002244	WXS	Illumina GAIIx	Phase_I	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		15	2577	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		759					A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2275G>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052708	0.75960	.	.	ENSG00000128052	ENST00000263923	T	0.76448	-1.02	5.97	5.97	0.96955	.	0.108004	0.64402	D	0.000011	T	0.78717	0.4327	M	0.66939	2.045	0.80722	D	1	P	0.36753	0.568	B	0.36666	0.23	T	0.76793	-0.2828	10	0.38643	T	0.18	.	20.4062	0.99009	0.0:1.0:0.0:0.0	.	759	P35968	VGFR2_HUMAN	K	759	ENSP00000263923:E759K	ENSP00000263923:E759K	E	-	1	0	KDR	55659719	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	7.776000	0.85560	2.831000	0.97527	0.655000	0.94253	GAA		0.408	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			4	55	0	0	0	1	0	4	55				
KIR3DL1	3811	broad.mit.edu	37	19	55341608	55341608	+	Missense_Mutation	SNP	G	G	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr19:55341608G>A	ENST00000391728.4	+	9	1246	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I	KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.V405I|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.V310I|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.V388I|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.V388I	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	405					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGATCACTGCGTTTTCACACA	0.507																																						uc021vbm.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(1213-1215)Gtt>Att		Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.							264.0	243.0	250.0					19																	55341608		2171	4170	6341	SO:0001583	missense	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55341608G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1213G>A	19.37:g.55341608G>A	ENSP00000375608:p.Val405Ile		Somatic				KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc010esf.3_Missense_Mutation_p.V310I|KIR3DL2_uc021vbo.1_Missense_Mutation_p.V388I|KIR3DL2_uc002qhk.4_Missense_Mutation_p.V405I|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_5'Flank|KIR3DL2_uc002qhm.1_5'Flank	p.V405I	NM_013289	NP_037421	WXS	Illumina GAIIx	Phase_I	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	8	1246	+			405					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1213G>A	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	3.877	-0.026815	0.07589	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00468	7.22;7.22;7.22;7.22;7.24	0.719	-0.563	0.11778	.	.	.	.	.	T	0.00356	0.0011	L	0.42529	1.33	0.09310	N	1	P;P;B	0.41008	0.703;0.735;0.358	B;B;B	0.37508	0.252;0.153;0.074	T	0.46190	-0.9209	8	0.72032	D	0.01	.	.	.	.	.	388;310;405	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	I	405;388;383;405;388;310	ENSP00000443350:V405I;ENSP00000442355:V388I;ENSP00000375608:V405I;ENSP00000326868:V388I;ENSP00000350901:V310I	ENSP00000326868:V388I	V	+	1	0	KIR3DL1	60033420	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-0.432000	0.06956	-0.229000	0.09854	0.184000	0.17185	GTT		0.507	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		93	152	0	0	0	1	0	93	152				
WIPF1	7456	broad.mit.edu	37	2	175446092	175446092	+	Missense_Mutation	SNP	C	C	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr2:175446092C>A	ENST00000392547.2	-	3	226	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.G43W|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.G43W|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.G43W|WIPF1_ENST00000392546.2_Missense_Mutation_p.G43W|WIPF1_ENST00000409891.1_Missense_Mutation_p.G43W|WIPF1_ENST00000410117.1_Missense_Mutation_p.G43W	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	43	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						AGTTTCTTCCCTTTGCTGATA	0.438																																						uc010fqt.1																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(127-129)Ggg>Tgg		Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.							386.0	353.0	364.0					2																	175446092		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175446092C>A	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.127G>T	2.37:g.175446092C>A	ENSP00000376330:p.Gly43Trp		Somatic				BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.G43W|WIPF1_uc002ujc.1_Missense_Mutation_p.G43W|WIPF1_uc002uiz.3_Missense_Mutation_p.G43W|WIPF1_uc002ujb.2_Missense_Mutation_p.G43W|WIPF1_uc010zep.1_Missense_Mutation_p.G43W	p.G43W	NM_003387	NP_003378	WXS	Illumina GAIIx	Phase_I	O43516	WIPF1_HUMAN			2	291	-			43			WH2.		B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.127G>T	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764745	0.90020	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	T;T;T;T;T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9;-0.9	5.76	5.76	0.90799	Actin-binding WH2 (2);	0.000000	0.85682	D	0.000000	D	0.90669	0.7073	H	0.94658	3.565	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92572	0.6067	10	0.87932	D	0	.	19.5527	0.95328	0.0:1.0:0.0:0.0	.	43;43;43;43	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	W	43	ENSP00000376330:G43W;ENSP00000272746:G43W;ENSP00000352802:G43W;ENSP00000376329:G43W;ENSP00000386431:G43W;ENSP00000387150:G43W;ENSP00000391785:G43W;ENSP00000386757:G43W;ENSP00000388454:G43W	ENSP00000272746:G43W	G	-	1	0	WIPF1	175154338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.098000	0.76974	2.736000	0.93811	0.655000	0.94253	GGG		0.438	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		6	223	0	0	0	1	0	6	223				
HDAC5	10014	broad.mit.edu	37	17	42169608	42169608	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr17:42169608G>C	ENST00000393622.2	-	9	1295	c.964C>G	c.(964-966)Ccc>Gcc	p.P322A	HDAC5_ENST00000225983.6_Missense_Mutation_p.P323A|HDAC5_ENST00000336057.5_Missense_Mutation_p.P322A|HDAC5_ENST00000586802.1_Missense_Mutation_p.P322A	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	322					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GAGCTGTTGGGAGAGCTGGGG	0.642																																						uc002iff.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(967-969)Ccc>Gcc		Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.							103.0	101.0	101.0					17																	42169608		2203	4300	6503	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42169608G>C	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.964C>G	17.37:g.42169608G>C	ENSP00000377244:p.Pro322Ala		Somatic				HDAC5_uc002ifd.1_Missense_Mutation_p.P322A|HDAC5_uc002ife.1_Missense_Mutation_p.P322A|HDAC5_uc010czp.1_Missense_Mutation_p.P322A|HDAC5_uc002ifh.2_Missense_Mutation_p.P322A	p.P323A	NM_001015053	NP_001015053	WXS	Illumina GAIIx	Phase_I	Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	8	1299	-		Breast(137;0.00637)|Prostate(33;0.0313)	322					C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.967C>G	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345146	0.82022	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.64618	0.21;0.21;-0.11	4.42	4.42	0.53409	.	0.078059	0.51477	D	0.000087	T	0.79470	0.4451	M	0.81682	2.555	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.80764	0.994;0.986;0.994;0.986	T	0.82114	-0.0617	10	0.54805	T	0.06	-16.8853	15.946	0.79792	0.0:0.0:1.0:0.0	.	322;322;323;322	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	A	323;322;322	ENSP00000225983:P323A;ENSP00000377244:P322A;ENSP00000337290:P322A	ENSP00000225983:P323A	P	-	1	0	HDAC5	39525134	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.343000	0.97047	2.283000	0.76528	0.462000	0.41574	CCC		0.642	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		3	97	0	0	0	1	0	3	97				
CRP	1401	broad.mit.edu	37	1	159683629	159683629	+	Missense_Mutation	SNP	C	C	T			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:159683629C>T	ENST00000255030.5	-	2	464	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	CRP_ENST00000343919.2_Intron|CRP_ENST00000368110.1_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000368112.1_Intron|CRP_ENST00000473196.1_5'Flank|CRP_ENST00000437342.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	121	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	ATCCCTGAGGCGGACTCCCAG	0.502																																						uc001ftw.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22						c.(361-363)Gcc>Acc		Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	Atorvastatin(DB01076)|Bezafibrate(DB01393)						135.0	139.0	138.0					1																	159683629		2203	4300	6503	SO:0001583	missense	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683629C>T	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.361G>A	1.37:g.159683629C>T	ENSP00000255030:p.Ala121Thr		Somatic				CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	p.A121T	NM_000567	NP_000558	WXS	Illumina GAIIx	Phase_I	P02741	CRP_HUMAN			1	465	-	all_hematologic(112;0.0429)		121			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	ENST00000255030.5	37	c.361G>A	CCDS30911.1	.	.	.	.	.	.	.	.	.	.	C	4.151	0.026465	0.08054	.	.	ENSG00000132693	ENST00000255030	T	0.58060	0.36	4.73	-1.95	0.07548	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	2.568440	0.01740	N	0.029331	T	0.09642	0.0237	N	0.13272	0.32	0.18873	N	0.999985	B	0.27932	0.194	B	0.24269	0.052	T	0.02852	-1.1102	10	0.12766	T	0.61	1.9559	1.7616	0.02993	0.1305:0.43:0.127:0.3125	.	121	P02741	CRP_HUMAN	T	121	ENSP00000255030:A121T	ENSP00000255030:A121T	A	-	1	0	CRP	157950253	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-3.605000	0.00417	-0.829000	0.04268	-0.761000	0.03458	GCC		0.502	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		41	184	0	0	0	1	0	41	184				
DUOX2	50506	broad.mit.edu	37	15	45392355	45392355	+	Missense_Mutation	SNP	T	T	G			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr15:45392355T>G	ENST00000603300.1	-	24	3279	c.3077A>C	c.(3076-3078)cAa>cCa	p.Q1026P	DUOX2_ENST00000389039.6_Missense_Mutation_p.Q1026P	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1026	Interaction with TXNDC11. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGCAGCTTTTGGGCTAGGAA	0.587																																						uc001zun.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(3076-3078)cAa>cCa		Homo sapiens dual oxidase 2 (DUOX2), mRNA.							107.0	90.0	96.0					15																	45392355		2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	g.chr15:45392355T>G	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3077A>C	15.37:g.45392355T>G	ENSP00000475084:p.Gln1026Pro		Somatic				DUOX2_uc010bea.3_Missense_Mutation_p.Q1026P	p.Q1026P	NM_014080	NP_054799	WXS	Illumina GAIIx	Phase_I	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	23	3280	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	1026			Interaction with TXNDC11 (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.3077A>C	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.247139	0.80024	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.45	3.15	0.36227	.	0.054732	0.85682	D	0.000000	T	0.61999	0.2392	M	0.76328	2.33	0.80722	D	1	D	0.54397	0.966	P	0.49421	0.61	T	0.61739	-0.7001	9	0.54805	T	0.06	-17.6706	9.0162	0.36170	0.0:0.1504:0.0:0.8496	.	1026	Q9NRD8	DUOX2_HUMAN	P	1026	.	ENSP00000373691:Q1026P	Q	-	2	0	DUOX2	43179647	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.148000	0.58085	0.385000	0.24970	-0.376000	0.06991	CAA		0.587	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		3	78	0	0	0	1	0	3	78				
ZBED1	9189	broad.mit.edu	37	X	2407561	2407561	+	Silent	SNP	G	G	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chrX:2407561G>A	ENST00000381223.4	-	2	1403	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	ZBED1_ENST00000381222.2_Silent_p.L400L|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Silent_p.L400L|DHRSX_ENST00000334651.5_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	400					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGCTGCAGGAGCTCCACCA	0.637																																						uc004cqh.2																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(1198-1200)ctC>ctT		Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 3, mRNA.		G	,,,	0,4406		0,0,2203	72.0	65.0	68.0		1200,1200,1200,	-6.1	0.0	X		68	1,8591		0,1,4295	no	coding-synonymous,coding-synonymous,coding-synonymous,intron	ZBED1,DHRSX	NM_001171135.1,NM_001171136.1,NM_004729.3,NM_145177.2	,,,	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	,,,	400/695,400/695,400/695,	2407561	1,12997	2203	4296	6499	SO:0001819	synonymous_variant	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2407561G>A	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1200C>T	X.37:g.2407561G>A			Somatic				DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqg.2_Silent_p.L400L|ZBED1_uc022brw.1_Silent_p.L400L|ZBED1_uc022brx.1_Silent_p.L400L	p.L400L	NM_001171135	NP_004720	WXS	Illumina GAIIx	Phase_I	O96006	ZBED1_HUMAN			1	1482	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	400					Q96BY4	Silent	SNP	ENST00000381223.4	37	c.1200C>T	CCDS14118.1																																																																																				0.637	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		17	63	0	0	0	1	0	17	63				
PDCD1LG2	80380	broad.mit.edu	37	9	5534909	5534909	+	Missense_Mutation	SNP	A	A	G			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr9:5534909A>G	ENST00000397747.3	+	3	468	c.220A>G	c.(220-222)Act>Gct	p.T74A	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.T74A	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	74	Ig-like V-type.				immune response (GO:0006955)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TGAAAGAGCCACTTTGCTGGA	0.493																																						uc011lmc.2																			0				large_intestine(2)|lung(4)|prostate(2)	8						c.(220-222)Act>Gct		Homo sapiens programmed cell death 1 ligand 2 (PDCD1LG2), mRNA.							99.0	87.0	91.0					9																	5534909		2203	4300	6503	SO:0001583	missense	80380				T cell costimulation|immune response	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr9:5534909A>G	AF344424	CCDS6465.1	9p24.2	2014-01-30			ENSG00000197646	ENSG00000197646		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	18731	protein-coding gene	gene with protein product	"""B7 dendritic cell molecule"""	605723				11224527	Standard	NM_025239		Approved	PD-L2, Btdc, PDL2, bA574F11.2, CD273, B7-DC	uc003zjg.4	Q9BQ51	OTTHUMG00000019504	ENST00000397747.3:c.220A>G	9.37:g.5534909A>G	ENSP00000380855:p.Thr74Ala		Somatic				PLGRKT_uc003zjd.3_Intron|PDCD1LG2_uc003zjg.4_Missense_Mutation_p.T74A|PDCD1LG2_uc011lmd.2_Missense_Mutation_p.T74A|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.T74A|PDCD1LG2_uc010mho.1_Missense_Mutation_p.T74A	p.T74A	NM_025239	NP_079515	WXS	Illumina GAIIx	Phase_I	Q9BQ51	PD1L2_HUMAN		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)	2	493	+	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)	74			Ig-like V-type.		Q14CN8|Q5T7Z6|Q6JXL8|Q6JXL9	Missense_Mutation	SNP	ENST00000397747.3	37	c.220A>G	CCDS6465.1	.	.	.	.	.	.	.	.	.	.	A	12.43	1.936020	0.34189	.	.	ENSG00000197646	ENST00000397745;ENST00000397747	T;T	0.02552	4.25;4.25	5.73	3.4	0.38934	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.420318	0.24182	N	0.040800	T	0.04182	0.0116	M	0.67569	2.06	0.21967	N	0.999441	B;B;P;B;B	0.37141	0.424;0.424;0.584;0.003;0.424	B;B;B;B;B	0.37550	0.152;0.152;0.253;0.008;0.152	T	0.35943	-0.9768	10	0.23891	T	0.37	-6.2156	7.3094	0.26465	0.8268:0.0:0.1732:0.0	.	63;74;74;74;74	Q2LC89;A4GW21;Q9BQ51-3;Q9BQ51-2;Q9BQ51	.;.;.;.;PD1L2_HUMAN	A	74	ENSP00000380853:T74A;ENSP00000380855:T74A	ENSP00000380853:T74A	T	+	1	0	PDCD1LG2	5524909	0.000000	0.05858	0.781000	0.31783	0.952000	0.60782	0.320000	0.19540	0.455000	0.26910	-0.441000	0.05720	ACT		0.493	PDCD1LG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051634.1	NM_025239		23	43	0	0	0	1	0	23	43				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	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		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	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		22	36	0	0	0	1	0	22	36				
CNR2	1269	broad.mit.edu	37	1	24201264	24201264	+	Missense_Mutation	SNP	C	C	A			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:24201264C>A	ENST00000374472.4	-	2	1005	c.844G>T	c.(844-846)Gct>Tct	p.A282S	CNR2_ENST00000536471.1_Missense_Mutation_p.A282S	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	282					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.A282T(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	GAGCAGAAAGCAAAGGCCTTC	0.577																																						uc001bif.3																			2	Substitution - Missense(2)	p.A282T(3)|p.A282A(1)	endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(844-846)Gct>Tct		Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.	Nabilone(DB00486)						92.0	81.0	85.0					1																	24201264		2203	4300	6503	SO:0001583	missense	1269				G-protein signaling, coupled to cyclic nucleotide second messenger|behavior|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201264C>A	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.844G>T	1.37:g.24201264C>A	ENSP00000363596:p.Ala282Ser		Somatic				CNR2_uc021oij.1_Missense_Mutation_p.A282S	p.A282S	NM_001841	NP_001832	WXS	Illumina GAIIx	Phase_I	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	1	971	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	282					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.844G>T	CCDS245.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917570	0.92249	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.37058	1.22;1.22	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58171	-0.7683	10	0.87932	D	0	.	19.0647	0.93106	0.0:1.0:0.0:0.0	.	282	P34972	CNR2_HUMAN	S	282	ENSP00000363596:A282S;ENSP00000442830:A282S	ENSP00000363596:A282S	A	-	1	0	CNR2	24073851	1.000000	0.71417	0.992000	0.48379	0.924000	0.55760	6.089000	0.71384	2.493000	0.84123	0.557000	0.71058	GCT		0.577	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		23	57	0	0	0	1	0	23	57				
OR2L13	284521	broad.mit.edu	37	1	248263052	248263052	+	Silent	SNP	C	C	T			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr1:248263052C>T	ENST00000358120.2	+	2	520	c.375C>T	c.(373-375)atC>atT	p.I125I	OR2L13_ENST00000366478.2_Silent_p.I125I			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ATTTGGCCATCTGCCACTCTC	0.502																																						uc001ids.3																			0		p.A124D(1)|p.A124T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59						c.(373-375)atC>atT		Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.							220.0	207.0	211.0					1																	248263052		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263052C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.375C>T	1.37:g.248263052C>T			Somatic				OR2L13_uc021pmc.1_Silent_p.I125I	p.I125I	NM_175911	NP_787107	WXS	Illumina GAIIx	Phase_I	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		2	712	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		125					Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.375C>T	CCDS1637.1																																																																																				0.502	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		4	216	0	0	0	1	0	4	216				
CTTNBP2	83992	broad.mit.edu	37	7	117432306	117432306	+	Missense_Mutation	SNP	T	T	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr7:117432306T>C	ENST00000160373.3	-	4	1035	c.944A>G	c.(943-945)aAt>aGt	p.N315S	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	315					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTGGTCAGCATTTTCTGTCAC	0.473																																						uc003vjf.3																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(943-945)aAt>aGt		Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.							181.0	175.0	177.0					7																	117432306		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432306T>C		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.944A>G	7.37:g.117432306T>C	ENSP00000160373:p.Asn315Ser		Somatic					p.N315S	NM_033427	NP_219499	WXS	Illumina GAIIx	Phase_I	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	3	1036	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		315					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.944A>G	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.644559	0.00111	.	.	ENSG00000077063	ENST00000160373	T	0.63913	-0.07	5.67	4.78	0.61160	.	0.444626	0.30920	N	0.008603	T	0.17323	0.0416	N	0.00092	-2.175	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35748	-0.9776	10	0.02654	T	1	-5.665	8.2497	0.31710	0.0:0.7352:0.1292:0.1356	.	315	Q8WZ74	CTTB2_HUMAN	S	315	ENSP00000160373:N315S	ENSP00000160373:N315S	N	-	2	0	CTTNBP2	117219542	0.933000	0.31639	0.021000	0.16686	0.001000	0.01503	1.832000	0.39151	0.865000	0.35603	-0.128000	0.14901	AAT		0.473	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		5	243	0	0	0	1	0	5	243				
PLXNB1	5364	broad.mit.edu	37	3	48459614	48459614	+	Missense_Mutation	SNP	G	G	C			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr3:48459614G>C	ENST00000358536.4	-	15	3477	c.3208C>G	c.(3208-3210)Ccc>Gcc	p.P1070A	PLXNB1_ENST00000456774.1_Missense_Mutation_p.P887A|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P1070A|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000358459.4_Missense_Mutation_p.P887A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1070	IPT/TIG 1.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGATGAGGGGCGCTGGGCAC	0.657																																						uc003csw.2																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(3208-3210)Ccc>Gcc		Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.							50.0	37.0	41.0					3																	48459614		2202	4300	6502	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48459614G>C	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3208C>G	3.37:g.48459614G>C	ENSP00000351338:p.Pro1070Ala		Somatic				PLXNB1_uc003csu.2_Missense_Mutation_p.P887A|PLXNB1_uc003csx.2_Missense_Mutation_p.P1070A|PLXNB1_uc010hjx.1_Non-coding_Transcript|PLXNB1_uc003csy.1_5'Flank	p.P1070A	NM_002673	NP_002664	WXS	Illumina GAIIx	Phase_I	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	14	3478	-			1070			IPT/TIG 1.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.3208C>G	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970768	0.92919	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.59	5.59	0.84812	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	D	0.92629	0.7658	M	0.90309	3.105	0.80722	D	1	P;P	0.50710	0.938;0.498	P;B	0.55749	0.783;0.23	D	0.93798	0.7098	10	0.87932	D	0	.	18.5826	0.91177	0.0:0.0:1.0:0.0	.	1070;887	O43157;O43157-2	PLXB1_HUMAN;.	A	1070;887;1070;887	ENSP00000296440:P1070A;ENSP00000351242:P887A;ENSP00000351338:P1070A;ENSP00000414199:P887A	ENSP00000296440:P1070A	P	-	1	0	PLXNB1	48434618	1.000000	0.71417	0.918000	0.36340	0.980000	0.70556	9.440000	0.97547	2.642000	0.89623	0.561000	0.74099	CCC		0.657	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		3	21	0	0	0	1	0	3	21				
IGHV1-24	28467	broad.mit.edu	37	14	106733181	106733181	+	RNA	SNP	A	A	T			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr14:106733181A>T	ENST00000390610.2	-	0	373									immunoglobulin heavy variable 1-24																		CTCAGATCTCAGGCTGCTCAG	0.527																																						uc021ser.1																			0													Parts of antibodies, mostly variable regions.							303.0	259.0	274.0					14																	106733181		2141	4224	6365			0							g.chr14:106733181A>T	M99642		14q32.33	2012-02-08			ENSG00000211950	ENSG00000211950		"""Immunoglobulins / IGH locus"""	5551	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152095		14.37:g.106733181A>T			Somatic								WXS	Illumina GAIIx	Phase_I					876		-									RNA	SNP	ENST00000390610.2	37	c.21365T>A																																																																																					0.527	IGHV1-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325192.1	NG_001019		12	374	0	0	0	1	0	12	374				
LARP1	23367	broad.mit.edu	37	5	154190917	154190918	+	Splice_Site	INS	-	-	T			TCGA-DE-A0XZ-01A-11D-A17V-08	TCGA-DE-A0XZ-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6212c4-e48b-4052-b894-e283ca951c97	4b0c366e-31db-4344-953e-454a4ec5fb73	g.chr5:154190917_154190918insT	ENST00000336314.4	+	17	2746		c.e17+1			NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1						cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TATGAAGCTGGTAAGAGCCAGA	0.49																																						uc003lvo.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.e17+1		Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.																																				SO:0001630	splice_region_variant	23367						RNA binding|protein binding	g.chr5:154190917_154190918insT	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2722+1->T	5.37:g.154190918_154190918dupT			Somatic				LARP1_uc021ygh.1_Splice_Site_p.G780_splice	p.G908_splice	NM_015315	NP_056130	WXS	Illumina GAIIx	Phase_I	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		17	2746	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	985					O94836|Q8N4M2|Q8NB73|Q9UFD7	Splice_Site	INS	ENST00000336314.4	37	c.2722_splice	CCDS4328.1																																																																																				0.490	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	Intron	24	44						24	44	---	---	---	---
