#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
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642																																						ENST00000361217.4																			2	Substitution - coding silent(2)	p.Q788Q(1)|p.Q900Q(1)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(2698-2700)caG>caA		DENN/MADD domain containing 4B							33.0	42.0	39.0					1																	153907309		2187	4283	6470	SO:0001819	synonymous_variant	9909							g.chr1:153907309C>T	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2700G>A	1.37:g.153907309C>T			Somatic					p.Q900Q	NM_014856.2	NP_055671.2	WXS	Illumina GAIIx	Phase_I	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		18	3118	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		900			Gln-rich.		Q5T4K0	Silent	SNP	ENST00000361217.4	37	c.2700G>A	CCDS44228.1																																																																																				0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		3	41	0	0	0	1	0	3	41				
FBLN7	129804	broad.mit.edu	37	2	112942885	112942885	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr2:112942885G>A	ENST00000331203.2	+	7	1187	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	FBLN7_ENST00000409667.3_Missense_Mutation_p.G172S|FBLN7_ENST00000409903.1_Missense_Mutation_p.G306S|FBLN7_ENST00000409450.3_Missense_Mutation_p.G260S	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	306	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGAGGGCAGCGGCAATGTGAG	0.617																																						ENST00000331203.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(916-918)Ggc>Agc		fibulin 7							122.0	103.0	109.0					2																	112942885		2203	4300	6503	SO:0001583	missense	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112942885G>A		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.916G>A	2.37:g.112942885G>A	ENSP00000331411:p.Gly306Ser		Somatic				FBLN7_ENST00000409903.1_Missense_Mutation_p.G306S|FBLN7_ENST00000409450.3_Missense_Mutation_p.G260S|FBLN7_ENST00000409667.3_Missense_Mutation_p.G172S	p.G306S	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	WXS	Illumina GAIIx	Phase_I	Q53RD9	FBLN7_HUMAN			7	1187	+			306			EGF-like 3; calcium-binding (Potential).		A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Missense_Mutation	SNP	ENST00000331203.2	37	c.916G>A	CCDS2095.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532357	0.64972	.	.	ENSG00000144152	ENST00000331203;ENST00000409903;ENST00000409667;ENST00000409450;ENST00000441565;ENST00000272559	D;D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88;-2.88	5.37	0.171	0.15026	EGF-like calcium-binding (2);	0.297460	0.42053	N	0.000765	D	0.84361	0.5455	L	0.41824	1.3	0.44627	D	0.997607	B;B;B;D	0.57257	0.056;0.041;0.03;0.979	B;B;B;B	0.43018	0.045;0.027;0.017;0.405	T	0.77923	-0.2406	10	0.15066	T	0.55	-14.0909	6.5848	0.22614	0.2053:0.2385:0.5562:0.0	.	172;260;306;306	Q53RD9-4;Q53RD9-2;Q53RD9;B8ZZC1	.;.;FBLN7_HUMAN;.	S	306;306;172;260;200;128	ENSP00000331411:G306S;ENSP00000386295:G306S;ENSP00000386822:G172S;ENSP00000387000:G260S;ENSP00000388025:G200S;ENSP00000272559:G128S	ENSP00000272559:G128S	G	+	1	0	FBLN7	112659356	0.930000	0.31532	0.842000	0.33263	0.977000	0.68977	1.398000	0.34554	0.002000	0.14630	0.561000	0.74099	GGC		0.617	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		3	37	0	0	0	1	0	3	37				
IL12RB2	3595	broad.mit.edu	37	1	67845674	67845674	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:67845674C>A	ENST00000262345.1	+	13	2363	c.1723C>A	c.(1723-1725)Ccc>Acc	p.P575T	IL12RB2_ENST00000371000.1_Missense_Mutation_p.P575T|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P489T|IL12RB2_ENST00000541374.1_Missense_Mutation_p.P575T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	575	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TTCAGAAATTCCCTACAGAGT	0.403																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(1723-1725)Ccc>Acc		interleukin 12 receptor, beta 2							76.0	75.0	76.0					1																	67845674		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67845674C>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1723C>A	1.37:g.67845674C>A	ENSP00000262345:p.Pro575Thr		Somatic				IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P489T|IL12RB2_ENST00000541374.1_Missense_Mutation_p.P575T|IL12RB2_ENST00000371000.1_Missense_Mutation_p.P575T	p.P575T	NM_001559.2	NP_001550.1	WXS	Illumina GAIIx	Phase_I	Q99665	I12R2_HUMAN			13	2363	+			575			Fibronectin type-III 5.		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.1723C>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067970	0.36470	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.39	4.48	0.54585	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.516425	0.19907	N	0.103392	T	0.45337	0.1337	M	0.61703	1.905	0.25770	N	0.984845	D;D;P;D	0.67145	0.982;0.996;0.9;0.982	P;P;B;P	0.61874	0.824;0.895;0.39;0.824	T	0.33854	-0.9852	10	0.10636	T	0.68	-9.2277	10.1953	0.43051	0.0:0.908:0.0:0.092	.	575;489;575;575	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	T	575;575;575;489	ENSP00000262345:P575T;ENSP00000360039:P575T;ENSP00000445276:P575T;ENSP00000442443:P489T	ENSP00000262345:P575T	P	+	1	0	IL12RB2	67618262	0.060000	0.20803	0.980000	0.43619	0.292000	0.27327	0.964000	0.29306	1.420000	0.47138	0.557000	0.71058	CCC		0.403	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		16	37	1	0	6.49762e-13	1	7.6179e-13	16	37				
PRDM8	56978	broad.mit.edu	37	4	81123464	81123464	+	Missense_Mutation	SNP	T	T	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr4:81123464T>A	ENST00000504452.1	+	8	1687	c.848T>A	c.(847-849)cTc>cAc	p.L283H	PRDM8_ENST00000415738.2_Missense_Mutation_p.L283H|PRDM8_ENST00000339711.4_Missense_Mutation_p.L283H			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	283	Gly-rich.|Ser-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCCCAGAGCCTCAgcagcggt	0.701											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(847-849)cTc>cAc		PR domain containing 8							9.0	12.0	11.0					4																	81123464		1528	3569	5097	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123464T>A	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.848T>A	4.37:g.81123464T>A	ENSP00000423985:p.Leu283His		Somatic	OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_Missense_Mutation_p.L283H|PRDM8_ENST00000415738.2_Missense_Mutation_p.L283H	p.L283H	NM_020226.3	NP_064611.3	WXS	Illumina GAIIx	Phase_I	Q9NQV8	PRDM8_HUMAN			10	2079	+			283			Gly-rich.|Ser-rich.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.848T>A	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.459334	0.63401	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.69175	-0.38;0.18;-0.38;-0.38	4.5	4.5	0.54988	.	0.259050	0.20266	U	0.095775	T	0.56352	0.1979	N	0.19112	0.55	0.09310	N	1	D	0.59767	0.986	P	0.47626	0.552	T	0.52419	-0.8578	10	0.51188	T	0.08	.	11.7849	0.52037	0.0:0.0:0.0:1.0	.	283	Q9NQV8	PRDM8_HUMAN	H	283	ENSP00000423985:L283H;ENSP00000425149:L283H;ENSP00000339764:L283H;ENSP00000406998:L283H	ENSP00000339764:L283H	L	+	2	0	PRDM8	81342488	0.132000	0.22450	0.040000	0.18447	0.655000	0.38815	0.000000	0.12993	1.879000	0.54435	0.260000	0.18958	CTC		0.701	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			7	8	0	0	0	1	0	7	8				
THSD4	79875	broad.mit.edu	37	15	72063481	72063481	+	Missense_Mutation	SNP	T	T	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr15:72063481T>G	ENST00000355327.3	+	17	2982	c.2848T>G	c.(2848-2850)Tgt>Ggt	p.C950G	THSD4_ENST00000357769.4_Missense_Mutation_p.C590G|THSD4_ENST00000261862.6_Missense_Mutation_p.C950G			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	950	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGTAACCTCTGTGACCCTCA	0.488																																						ENST00000355327.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2848-2850)Tgt>Ggt		thrombospondin, type I, domain containing 4							158.0	150.0	153.0					15																	72063481		1883	4111	5994	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72063481T>G	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2848T>G	15.37:g.72063481T>G	ENSP00000347484:p.Cys950Gly		Somatic				THSD4_ENST00000357769.4_Missense_Mutation_p.C590G|THSD4_ENST00000261862.6_Missense_Mutation_p.C950G	p.C950G			WXS	Illumina GAIIx	Phase_I	Q6ZMP0	THSD4_HUMAN			17	2982	+			950			TSP type-1 6.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.2848T>G	CCDS10238.2	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457252	0.84317	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.69175	-0.38;-0.38;-0.38	5.05	5.05	0.67936	.	.	.	.	.	D	0.84911	0.5577	H	0.97806	4.08	0.80722	D	1	P;P	0.42296	0.775;0.775	P;P	0.52031	0.688;0.688	D	0.89027	0.3439	9	0.62326	D	0.03	.	12.7715	0.57423	0.0:0.0:0.0:1.0	.	590;950	B4DR13;Q6ZMP0	.;THSD4_HUMAN	G	950;950;590	ENSP00000347484:C950G;ENSP00000261862:C950G;ENSP00000350413:C590G	ENSP00000261862:C950G	C	+	1	0	THSD4	69850535	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.856000	0.86956	1.907000	0.55213	0.455000	0.32223	TGT		0.488	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		51	69	0	0	0	1	0	51	69				
SDHAP1	255812	broad.mit.edu	37	3	195701278	195701278	+	RNA	SNP	C	C	T	rs200131790	byFrequency	TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr3:195701278C>T	ENST00000427841.1	-	0	1546					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CAGGCCTGCACGACTCTGCGA	0.537																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195701278C>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701278C>T			Somatic						NR_003264.2		WXS	Illumina GAIIx	Phase_I					0	1546	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.537	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	21	0	0	0	1	0	3	21				
RPL26L1	51121	broad.mit.edu	37	5	172395506	172395506	+	Silent	SNP	C	C	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:172395506C>G	ENST00000521476.1	+	3	337	c.213C>G	c.(211-213)gtC>gtG	p.V71V	RPL26L1_ENST00000519239.1_Silent_p.V71V|RPL26L1_ENST00000519974.1_Silent_p.V71V|RPL26L1_ENST00000265100.2_Silent_p.V71V			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	71					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAAGGTAGTCCAGGTGTACA	0.463																																						ENST00000521476.1																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7						c.(211-213)gtC>gtG		ribosomal protein L26-like 1							201.0	186.0	191.0					5																	172395506		2203	4300	6503	SO:0001819	synonymous_variant	51121				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172395506C>G	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.213C>G	5.37:g.172395506C>G			Somatic				RPL26L1_ENST00000519974.1_Silent_p.V71V|RPL26L1_ENST00000519239.1_Silent_p.V71V|RPL26L1_ENST00000265100.2_Silent_p.V71V	p.V71V			WXS	Illumina GAIIx	Phase_I	Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	337	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	71					B3KY82|D3DQM0	Silent	SNP	ENST00000521476.1	37	c.213C>G	CCDS4382.1																																																																																				0.463	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1	NM_016093		4	145	0	0	0	1	0	4	145				
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	byFrequency	TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr21:11058340A>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363													a|||	41	0.0081869	0.0136	0.0014	5008	,	,		64928	0.002		0.005	False		,,,				2504	0.0153					ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11058340A>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058340A>C			Somatic								WXS	Illumina GAIIx	Phase_I			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.363	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	155	0	0	0	1	0	6	155				
PTK7	5754	broad.mit.edu	37	6	43111198	43111198	+	Silent	SNP	C	C	G	rs373906232		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr6:43111198C>G	ENST00000230419.4	+	14	2312	c.2091C>G	c.(2089-2091)ccC>ccG	p.P697P	PTK7_ENST00000352931.2_Silent_p.P641P|PTK7_ENST00000349241.2_Silent_p.P567P|PTK7_ENST00000481273.1_Silent_p.P705P|PTK7_ENST00000345201.2_Silent_p.P657P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	697					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCAGCCCTCCCCCCTACAAGA	0.602											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2089-2091)ccC>ccG		protein tyrosine kinase 7							74.0	76.0	75.0					6																	43111198		2203	4300	6503	SO:0001819	synonymous_variant	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43111198C>G	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2091C>G	6.37:g.43111198C>G			Somatic	OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	913	PTK7_ENST00000349241.2_Silent_p.P567P|PTK7_ENST00000481273.1_Silent_p.P705P|PTK7_ENST00000345201.2_Silent_p.P657P|PTK7_ENST00000352931.2_Silent_p.P641P	p.P697P	NM_002821.4	NP_002812.2	WXS	Illumina GAIIx	Phase_I	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		14	2312	+			697					A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.2091C>G	CCDS4884.1																																																																																				0.602	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			25	46	0	0	0	1	0	25	46				
KDM3B	51780	broad.mit.edu	37	5	137750822	137750822	+	Splice_Site	SNP	G	G	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:137750822G>A	ENST00000314358.5	+	12	3401	c.3201G>A	c.(3199-3201)gaG>gaA	p.E1067E	KDM3B_ENST00000394866.1_Splice_Site_p.E723E|KDM3B_ENST00000542866.1_Splice_Site_p.E99E	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1067					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTATTTCAGAGACAGAAGAGA	0.413																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(3199-3201)gaG>gaA		lysine (K)-specific demethylase 3B							75.0	76.0	76.0					5																	137750822		2203	4300	6503	SO:0001630	splice_region_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137750822G>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3200-1G>A	5.37:g.137750822G>A			Somatic				KDM3B_ENST00000394866.1_Splice_Site_p.E723E|KDM3B_ENST00000542866.1_Splice_Site_p.E99E	p.E1067E	NM_016604.3	NP_057688	WXS	Illumina GAIIx	Phase_I	Q7LBC6	KDM3B_HUMAN			12	3401	+			1067					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Splice_Site	SNP	ENST00000314358.5	37	c.3201G>A	CCDS34242.1																																																																																				0.413	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	Silent	8	35	0	0	0	1	0	8	35				
GRID2	2895	broad.mit.edu	37	4	94693493	94693493	+	Silent	SNP	C	C	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr4:94693493C>T	ENST00000282020.4	+	16	3126	c.2868C>T	c.(2866-2868)aaC>aaT	p.N956N	GRID2_ENST00000510992.1_Silent_p.N861N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	956	Interaction with AP4M1. {ECO:0000250}.				cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTTTTGGCAACGTGCCTGAGC	0.468																																						ENST00000282020.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(2866-2868)aaC>aaT		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						83.0	79.0	80.0					4																	94693493		2203	4300	6503	SO:0001819	synonymous_variant	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94693493C>T	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.2868C>T	4.37:g.94693493C>T			Somatic				GRID2_ENST00000510992.1_Silent_p.N861N	p.N956N	NM_001510.2	NP_001501.2	WXS	Illumina GAIIx	Phase_I	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	16	3126	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	956			Interaction with AP4M1 (By similarity).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Silent	SNP	ENST00000282020.4	37	c.2868C>T	CCDS3637.1																																																																																				0.468	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			17	37	0	0	0	1	0	17	37				
PLCB4	5332	broad.mit.edu	37	20	9389753	9389753	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr20:9389753G>T	ENST00000378493.1	+	20	1903	c.1888G>T	c.(1888-1890)Gat>Tat	p.D630Y	PLCB4_ENST00000278655.4_Missense_Mutation_p.D630Y|PLCB4_ENST00000334005.3_Missense_Mutation_p.D630Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642Y|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.D630Y			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	630	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGGCCGAGTCGATTCCAGTAA	0.448																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1888-1890)Gat>Tat		phospholipase C, beta 4							67.0	57.0	60.0					20																	9389753		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9389753G>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1888G>T	20.37:g.9389753G>T	ENSP00000367754:p.Asp630Tyr		Somatic				PLCB4_ENST00000334005.3_Missense_Mutation_p.D630Y|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642Y|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630Y|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642Y|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D630Y	p.D630Y	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	Q15147	PLCB4_HUMAN			20	1903	+			630			PI-PLC Y-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1888G>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009532	0.93346	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	6.04	6.04	0.98038	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.84147	0.5408	H	0.94582	3.555	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.965;0.999;0.996	D	0.87247	0.2270	10	0.87932	D	0	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	642;477;630;630	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	Y	630;642;630;630;630;478	ENSP00000334105:D630Y;ENSP00000367734:D642Y;ENSP00000278655:D630Y;ENSP00000367754:D630Y;ENSP00000367762:D630Y;ENSP00000390616:D478Y	ENSP00000278655:D630Y	D	+	1	0	PLCB4	9337753	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.869000	0.99810	2.873000	0.98535	0.561000	0.74099	GAT		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			28	42	1	0	6.38683e-12	1	7.23841e-12	28	42				
CTTNBP2NL	55917	broad.mit.edu	37	1	112999731	112999731	+	Silent	SNP	T	T	C			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:112999731T>C	ENST00000271277.6	+	6	1842	c.1617T>C	c.(1615-1617)acT>acC	p.T539T	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	539					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGCCAACACTGCCAATCCAA	0.542																																						ENST00000271277.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						c.(1615-1617)acT>acC		CTTNBP2 N-terminal like							147.0	134.0	138.0					1																	112999731		2203	4300	6503	SO:0001819	synonymous_variant	55917					actin cytoskeleton	protein binding	g.chr1:112999731T>C	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1617T>C	1.37:g.112999731T>C			Somatic				CTTNBP2NL_ENST00000607039.1_3'UTR	p.T539T	NM_018704.2	NP_061174.1	WXS	Illumina GAIIx	Phase_I	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1842	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	539					B3KMS5|Q96B40	Silent	SNP	ENST00000271277.6	37	c.1617T>C	CCDS845.1																																																																																				0.542	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		37	47	0	0	0	1	0	37	47				
RPS25	6230	broad.mit.edu	37	11	118888181	118888181	+	Silent	SNP	G	G	C			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr11:118888181G>C	ENST00000527673.1	-	3	579	c.174C>G	c.(172-174)ctC>ctG	p.L58L	TRAPPC4_ENST00000525303.1_5'Flank|RPS25_ENST00000528547.1_5'Flank|TRAPPC4_ENST00000434101.2_5'Flank|TRAPPC4_ENST00000359005.4_5'Flank|MIR3656_ENST00000577421.1_RNA|TRAPPC4_ENST00000533058.1_5'Flank|TRAPPC4_ENST00000528230.1_5'Flank|TRAPPC4_ENST00000533632.1_5'Flank	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	58					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		CTTCCTTACAGAGTTTATCAT	0.463																																						ENST00000527673.1																			0				endometrium(1)	1						c.(172-174)ctC>ctG		ribosomal protein S25							50.0	53.0	52.0					11																	118888181		2200	4295	6495	SO:0001819	synonymous_variant	6230				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding	g.chr11:118888181G>C	M64716	CCDS8406.1	11q23.3	2011-04-06			ENSG00000118181	ENSG00000118181		"""S ribosomal proteins"""	10413	protein-coding gene	gene with protein product		180465				1748303	Standard	NM_001028		Approved	S25	uc001pun.2	P62851	OTTHUMG00000166350	ENST00000527673.1:c.174C>G	11.37:g.118888181G>C			Somatic					p.L58L	NM_001028.2	NP_001019.1	WXS	Illumina GAIIx	Phase_I	P62851	RS25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	3	579	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	58					B2R4M7|P25111	Silent	SNP	ENST00000527673.1	37	c.174C>G	CCDS8406.1																																																																																				0.463	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389324.1	NM_001028		16	41	0	0	0	1	0	16	41				
SLC22A5	6584	broad.mit.edu	37	5	131714157	131714157	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr5:131714157G>T	ENST00000245407.3	+	2	702	c.481G>T	c.(481-483)Ggg>Tgg	p.G161W	SLC22A5_ENST00000435065.2_Missense_Mutation_p.G185W	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	161					carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|positive regulation of intestinal epithelial structure maintenance (GO:0060731)|quaternary ammonium group transport (GO:0015697)|quorum sensing involved in interaction with host (GO:0052106)|sodium ion transport (GO:0006814)|sodium-dependent organic cation transport (GO:0070715)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|drug transmembrane transporter activity (GO:0015238)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|symporter activity (GO:0015293)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Acetylcarnitine(DB08842)|Aminohippurate(DB00345)|Amphetamine(DB00182)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benzylpenicillin(DB01053)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefradine(DB01333)|Ceftazidime(DB00438)|Cephalexin(DB00567)|Cephaloglycin(DB00689)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Creatine(DB00148)|Cyclacillin(DB01000)|Dactinomycin(DB00970)|Desipramine(DB01151)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Epinephrine(DB00668)|Furosemide(DB00695)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Mepyramine(DB06691)|Methamphetamine(DB01577)|Niacin(DB00627)|Nicotine(DB00184)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Probenecid(DB01032)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Sparfloxacin(DB01208)|Thiamine(DB00152)|Tiotropium(DB01409)|Valproic Acid(DB00313)|Verapamil(DB00661)	CTTCATTTCAGGGCAGCTGTC	0.552																																						ENST00000245407.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8						c.(481-483)Ggg>Tgg		solute carrier family 22 (organic cation/carnitine transporter), member 5	L-Carnitine(DB00583)						220.0	211.0	214.0					5																	131714157		2203	4300	6503	SO:0001583	missense	6584				positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity	g.chr5:131714157G>T	AF057164	CCDS4154.1	5q23.3	2013-05-22	2008-01-11		ENSG00000197375	ENSG00000197375		"""Solute carriers"""	10969	protein-coding gene	gene with protein product		603377		CDSP		9618255, 9916797, 9685390	Standard	NM_003060		Approved	OCTN2, SCD	uc003kww.4	O76082	OTTHUMG00000059634	ENST00000245407.3:c.481G>T	5.37:g.131714157G>T	ENSP00000245407:p.Gly161Trp		Somatic				SLC22A5_ENST00000435065.2_Missense_Mutation_p.G185W	p.G161W	NM_003060.3	NP_003051.1	WXS	Illumina GAIIx	Phase_I	O76082	S22A5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	702	+		all_cancers(142;0.0751)|Breast(839;0.198)	161					A2Q0V1|B2R844|D3DQ87|Q6ZQZ8|Q96EH6	Missense_Mutation	SNP	ENST00000245407.3	37	c.481G>T	CCDS4154.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561722	0.65538	.	.	ENSG00000197375	ENST00000245407;ENST00000435065;ENST00000415928	T;T;T	0.74002	-0.8;-0.8;-0.8	5.63	5.63	0.86233	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Sugar transporter, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92873	0.7733	H	0.99182	4.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95343	0.8440	10	0.87932	D	0	.	20.0314	0.97540	0.0:0.0:1.0:0.0	.	185;161	A2Q0V1;O76082	.;S22A5_HUMAN	W	161;185;84	ENSP00000245407:G161W;ENSP00000402760:G185W;ENSP00000388838:G84W	ENSP00000245407:G161W	G	+	1	0	SLC22A5	131742056	1.000000	0.71417	0.992000	0.48379	0.269000	0.26545	9.242000	0.95408	2.802000	0.96397	0.561000	0.74099	GGG		0.552	SLC22A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132631.1	NM_003060		63	103	1	0	3.84483e-29	1	5.02786e-29	63	103				
PRKCB	5579	broad.mit.edu	37	16	24196869	24196869	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr16:24196869C>T	ENST00000321728.7	+	15	1878	c.1703C>T	c.(1702-1704)gCt>gTt	p.A568V	PRKCB_ENST00000303531.7_Missense_Mutation_p.A568V	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	568	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TCCAAGGAAGCTGTGGCCATC	0.507																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(1702-1704)gCt>gTt		protein kinase C, beta	Vitamin E(DB00163)						145.0	120.0	128.0					16																	24196869		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24196869C>T	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1703C>T	16.37:g.24196869C>T	ENSP00000318315:p.Ala568Val		Somatic				PRKCB_ENST00000321728.7_Missense_Mutation_p.A568V	p.A568V	NM_002738.6	NP_002729.2	WXS	Illumina GAIIx	Phase_I	P05771	KPCB_HUMAN			15	1855	+			568			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.1703C>T	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	35	5.587887	0.96590	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.67698	-0.28;-0.28	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	L	0.53780	1.695	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.975;0.985	T	0.80016	-0.1559	10	0.87932	D	0	.	19.2318	0.93843	0.0:1.0:0.0:0.0	.	568;568	P05771-2;P05771	.;KPCB_HUMAN	V	568	ENSP00000318315:A568V;ENSP00000305355:A568V	ENSP00000305355:A568V	A	+	2	0	PRKCB	24104370	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.476000	0.81055	2.865000	0.98341	0.655000	0.94253	GCT		0.507	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		26	33	0	0	0	1	0	26	33				
VEZF1	7716	broad.mit.edu	37	17	56056601	56056601	+	Silent	SNP	T	T	C			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr17:56056601T>C	ENST00000581208.1	-	5	1090	c.1050A>G	c.(1048-1050)caA>caG	p.Q350Q	VEZF1_ENST00000584396.1_Silent_p.Q341Q	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	350	Poly-Gln.			Missing (in Ref. 1; BAA05663). {ECO:0000305}.	angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						gttgttgttgttgttgctgct	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1021-1023)caA>caG		vascular endothelial zinc finger 1							173.0	159.0	164.0					17																	56056601		2203	4300	6503	SO:0001819	synonymous_variant	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056601T>C	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1050A>G	17.37:g.56056601T>C			Somatic				VEZF1_ENST00000581208.1_Silent_p.Q350Q	p.Q341Q			WXS	Illumina GAIIx	Phase_I	Q14119	VEZF1_HUMAN			5	1111	-			350			Poly-Gln.			Silent	SNP	ENST00000581208.1	37	c.1023A>G	CCDS32687.1																																																																																				0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			4	211	0	0	0	1	0	4	211				
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106.0	111.0	109.0					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile		Somatic				CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	p.T413I	NM_152601.3	NP_689814.1	WXS	Illumina GAIIx	Phase_I	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		6	108	0	0	0	1	0	6	108				
ADAMTS4	9507	broad.mit.edu	37	1	161164004	161164004	+	Missense_Mutation	SNP	A	A	C			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:161164004A>C	ENST00000367996.5	-	5	1697	c.1269T>G	c.(1267-1269)tgT>tgG	p.C423W	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	423	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	TGTCTAAGAGACAGTGCCCTG	0.592																																						ENST00000367996.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43						c.(1267-1269)tgT>tgG		ADAM metallopeptidase with thrombospondin type 1 motif, 4							43.0	49.0	47.0					1																	161164004		2190	4296	6486	SO:0001583	missense	9507				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	g.chr1:161164004A>C	AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1269T>G	1.37:g.161164004A>C	ENSP00000356975:p.Cys423Trp		Somatic				ADAMTS4_ENST00000478394.1_5'UTR	p.C423W	NM_005099.4	NP_005090.3	WXS	Illumina GAIIx	Phase_I	O75173	ATS4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		5	1697	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)					Peptidase M12B.		Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	c.1269T>G	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.057104	0.55325	.	.	ENSG00000158859	ENST00000367996	D	0.98313	-4.86	5.05	0.184	0.15086	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000002	D	0.98969	0.9649	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99139	1.0855	10	0.87932	D	0	.	9.5193	0.39124	0.4611:0.0:0.5389:0.0	.	423	O75173	ATS4_HUMAN	W	423	ENSP00000356975:C423W	ENSP00000356975:C423W	C	-	3	2	ADAMTS4	159430628	0.995000	0.38212	0.998000	0.56505	0.909000	0.53808	0.317000	0.19487	0.113000	0.18004	0.459000	0.35465	TGT		0.592	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		12	30	0	0	0	1	0	12	30				
OLFM4	10562	broad.mit.edu	37	13	53624627	53624627	+	Silent	SNP	A	A	G			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr13:53624627A>G	ENST00000219022.2	+	5	1332	c.1254A>G	c.(1252-1254)ctA>ctG	p.L418L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	418	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TTCAGGTGCTAAACACTTGGT	0.433																																						ENST00000219022.2																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(1252-1254)ctA>ctG		olfactomedin 4							158.0	138.0	145.0					13																	53624627		2203	4300	6503	SO:0001819	synonymous_variant	10562				cell adhesion	extracellular space		g.chr13:53624627A>G	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1254A>G	13.37:g.53624627A>G			Somatic					p.L418L	NM_006418.4	NP_006409.3	WXS	Illumina GAIIx	Phase_I	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1332	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	418			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	c.1254A>G	CCDS9440.1																																																																																				0.433	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		4	101	0	0	0	1	0	4	101				
IFNLR1	163702	broad.mit.edu	37	1	24484271	24484271	+	Silent	SNP	C	C	T	rs543005854		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr1:24484271C>T	ENST00000327535.1	-	7	924	c.912G>A	c.(910-912)ccG>ccA	p.P304P	IFNLR1_ENST00000374421.3_Silent_p.P275P|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	304					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											CTCGAGGCGTCGGCCTGACCC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17275	0.0		0.0	False		,,,				2504	0.001					ENST00000327535.1																			0											c.(910-912)ccG>ccA		interferon, lambda receptor 1							133.0	136.0	135.0					1																	24484271		2203	4300	6503	SO:0001819	synonymous_variant	163702							g.chr1:24484271C>T	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.912G>A	1.37:g.24484271C>T			Somatic				IFNLR1_ENST00000374421.3_Silent_p.P275P|IFNLR1_ENST00000327575.2_3'UTR	p.P304P	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	WXS	Illumina GAIIx	Phase_I					7	924	-								Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Silent	SNP	ENST00000327535.1	37	c.912G>A	CCDS248.1																																																																																				0.582	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743		46	33	0	0	0	1	0	46	33				
DNER	92737	broad.mit.edu	37	2	230231716	230231716	+	Missense_Mutation	SNP	C	C	T	rs370587377		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr2:230231716C>T	ENST00000341772.4	-	12	2109	c.1975G>A	c.(1975-1977)Gtg>Atg	p.V659M		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	659					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CAAATCCCCACGATCAGGATG	0.557																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(1975-1977)Gtg>Atg		delta/notch-like EGF repeat containing		C	MET/VAL	0,4406		0,0,2203	60.0	49.0	53.0		1975	5.8	1.0	2		53	1,8599		0,1,4299	no	missense	DNER	NM_139072.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	659/738	230231716	1,13005	2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230231716C>T	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.1975G>A	2.37:g.230231716C>T	ENSP00000345229:p.Val659Met		Somatic					p.V659M	NM_139072.3	NP_620711.3	WXS	Illumina GAIIx	Phase_I	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	12	2109	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	659					A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.1975G>A	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929003	0.92389	0.0	1.16E-4	ENSG00000187957	ENST00000341772;ENST00000543700	D	0.86366	-2.11	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.89473	0.6725	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.87795	0.2621	10	0.31617	T	0.26	.	20.1027	0.97880	0.0:1.0:0.0:0.0	.	659	Q8NFT8	DNER_HUMAN	M	659;377	ENSP00000345229:V659M	ENSP00000345229:V659M	V	-	1	0	DNER	229939960	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	7.397000	0.79903	2.760000	0.94817	0.551000	0.68910	GTG		0.557	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		6	11	0	0	0	1	0	6	11				
CEP192	55125	broad.mit.edu	37	18	13096255	13096255	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr18:13096255G>T	ENST00000325971.8	+	34	6311	c.4718G>T	c.(4717-4719)tGg>tTg	p.W1573L	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.W1694L|CEP192_ENST00000506447.1_Missense_Mutation_p.W2169L			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1573					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGCTGTGCTGGCCAGCGCAT	0.483																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6505-6507)tGg>tTg		centrosomal protein 192kDa							111.0	105.0	107.0					18																	13096255		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13096255G>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4718G>T	18.37:g.13096255G>T	ENSP00000317156:p.Trp1573Leu		Somatic				CEP192_ENST00000430049.2_Missense_Mutation_p.W1694L|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.W1573L	p.W2169L	NM_032142.3	NP_115518.3	WXS	Illumina GAIIx	Phase_I	B7ZMF0	B7ZMF0_HUMAN			36	6586	+			1764					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6506G>T		.	.	.	.	.	.	.	.	.	.	G	33	5.235481	0.95240	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.56275	0.47;0.47;0.47	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.77189	-0.2679	10	0.87932	D	0	-6.5846	18.9658	0.92695	0.0:0.0:1.0:0.0	.	1694;2169;173;771	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	L	2169;1573;1573;1694;173	ENSP00000427550:W2169L;ENSP00000317156:W1573L;ENSP00000389190:W1694L	ENSP00000317156:W1573L	W	+	2	0	CEP192	13086255	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.035000	0.93752	2.477000	0.83638	0.491000	0.48974	TGG		0.483	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		23	43	1	0	1.64293e-13	1	2.06888e-13	23	43				
PLCB4	5332	broad.mit.edu	37	20	9389754	9389754	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr20:9389754A>T	ENST00000378493.1	+	20	1904	c.1889A>T	c.(1888-1890)gAt>gTt	p.D630V	PLCB4_ENST00000278655.4_Missense_Mutation_p.D630V|PLCB4_ENST00000334005.3_Missense_Mutation_p.D630V|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642V|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.D630V			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	630	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCCGAGTCGATTCCAGTAAT	0.448																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1888-1890)gAt>gTt		phospholipase C, beta 4							68.0	57.0	61.0					20																	9389754		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9389754A>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1889A>T	20.37:g.9389754A>T	ENSP00000367754:p.Asp630Val		Somatic				PLCB4_ENST00000334005.3_Missense_Mutation_p.D630V|PLCB4_ENST00000414679.2_Missense_Mutation_p.D642V|PLCB4_ENST00000278655.4_Missense_Mutation_p.D630V|PLCB4_ENST00000378473.3_Missense_Mutation_p.D642V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.D630V	p.D630V	NM_000933.3	NP_000924.3	WXS	Illumina GAIIx	Phase_I	Q15147	PLCB4_HUMAN			20	1904	+			630			PI-PLC Y-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1889A>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.821210	0.90873	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.58652	0.32;0.32;0.32;0.32;0.32;0.32	6.04	6.04	0.98038	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	D	0.85856	0.5794	H	0.98507	4.25	0.80722	D	1	D;P;D;D	0.76494	0.976;0.765;0.999;0.984	D;P;D;D	0.85130	0.962;0.633;0.997;0.936	D	0.91326	0.5086	10	0.87932	D	0	.	16.5763	0.84648	1.0:0.0:0.0:0.0	.	642;477;630;630	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	V	630;642;630;630;630;478	ENSP00000334105:D630V;ENSP00000367734:D642V;ENSP00000278655:D630V;ENSP00000367754:D630V;ENSP00000367762:D630V;ENSP00000390616:D478V	ENSP00000278655:D630V	D	+	2	0	PLCB4	9337754	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.317000	0.78254	0.459000	0.35465	GAT		0.448	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			29	43	0	0	0	1	0	29	43				
LHFPL4	375323	broad.mit.edu	37	3	9547848	9547848	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr3:9547848C>A	ENST00000287585.6	-	3	731	c.446G>T	c.(445-447)gGc>gTc	p.G149V		NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	162						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGCATCCCAGCCATCAGGAAA	0.602																																						ENST00000287585.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10						c.(445-447)gGc>gTc		lipoma HMGIC fusion partner-like 4							107.0	94.0	98.0					3																	9547848		2203	4300	6503	SO:0001583	missense	375323					integral to membrane		g.chr3:9547848C>A	AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.446G>T	3.37:g.9547848C>A	ENSP00000287585:p.Gly149Val		Somatic					p.G149V	NM_198560.2	NP_940962.1	WXS	Illumina GAIIx	Phase_I	Q7Z7J7	LHPL4_HUMAN			3	731	-	Medulloblastoma(99;0.227)		149					A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000287585.6	37	c.446G>T	CCDS33691.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843562	0.91197	.	.	ENSG00000156959	ENST00000287585	T	0.79845	-1.31	5.27	5.27	0.74061	.	0.000000	0.64402	U	0.000003	D	0.91998	0.7465	M	0.92026	3.265	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	D	0.93619	0.6946	10	0.87932	D	0	-18.7726	18.496	0.90865	0.0:1.0:0.0:0.0	.	149	Q7Z7J7	LHPL4_HUMAN	V	149	ENSP00000287585:G149V	ENSP00000287585:G149V	G	-	2	0	LHFPL4	9522848	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.783000	0.85696	2.488000	0.83962	0.591000	0.81541	GGC		0.602	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560		3	34	1	0	1	1	1	3	34				
CGNL1	84952	broad.mit.edu	37	15	57837822	57837822	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr15:57837822G>A	ENST00000281282.5	+	17	3611	c.3533G>A	c.(3532-3534)cGg>cAg	p.R1178Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1178						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCAACCGGCGGCTGGAGCGG	0.597																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(3532-3534)cGg>cAg		cingulin-like 1							50.0	40.0	43.0					15																	57837822		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57837822G>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3533G>A	15.37:g.57837822G>A	ENSP00000281282:p.Arg1178Gln		Somatic					p.R1178Q	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	WXS	Illumina GAIIx	Phase_I	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	17	3611	+			1178					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.3533G>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	32	5.180297	0.94846	.	.	ENSG00000128849	ENST00000281282	T	0.80304	-1.36	5.39	5.39	0.77823	Myosin tail (1);	0.000000	0.48767	D	0.000163	D	0.87752	0.6256	L	0.58583	1.82	0.50632	D	0.999888	D	0.65815	0.995	D	0.66602	0.945	D	0.87402	0.2370	10	0.49607	T	0.09	-35.3467	19.1895	0.93658	0.0:0.0:1.0:0.0	.	1178	Q0VF96	CGNL1_HUMAN	Q	1178	ENSP00000281282:R1178Q	ENSP00000281282:R1178Q	R	+	2	0	CGNL1	55625114	1.000000	0.71417	0.954000	0.39281	0.994000	0.84299	4.809000	0.62591	2.526000	0.85167	0.563000	0.77884	CGG		0.597	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		6	11	0	0	0	1	0	6	11				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T			Somatic				NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			WXS	Illumina GAIIx	Phase_I	Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	28	0	0	0	1	0	4	28				
CPVL	54504	broad.mit.edu	37	7	29103844	29103844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr7:29103844C>A	ENST00000409850.1	-	15	1616	c.970G>T	c.(970-972)Gag>Tag	p.E324*	CPVL_ENST00000396276.3_Nonsense_Mutation_p.E324*|CPVL_ENST00000265394.5_Nonsense_Mutation_p.E324*			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	324						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AGCTGATCCTCAGGTTCCTGG	0.423																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(970-972)Gag>Tag		carboxypeptidase, vitellogenic-like							70.0	72.0	71.0					7																	29103844		2203	4300	6503	SO:0001587	stop_gained	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29103844C>A	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.970G>T	7.37:g.29103844C>A	ENSP00000387164:p.Glu324*		Somatic				CPVL_ENST00000265394.5_Nonsense_Mutation_p.E324*|CPVL_ENST00000396276.3_Nonsense_Mutation_p.E324*	p.E324*			WXS	Illumina GAIIx	Phase_I	Q9H3G5	CPVL_HUMAN			15	1616	-			324					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Nonsense_Mutation	SNP	ENST00000409850.1	37	c.970G>T	CCDS5419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	7.080750|7.080750	0.98051|0.98051	.|.	.|.	ENSG00000106066|ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850;ENST00000542995|ENST00000432534	.|.	.|.	.|.	5.87|5.87	4.05|4.05	0.47172|0.47172	.|.	0.222920|.	0.44688|.	D|.	0.000421|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.06236|.	T|.	0.91|.	-20.1695|-20.1695	7.4405|7.4405	0.27181|0.27181	0.1346:0.7223:0.0:0.1431|0.1346:0.7223:0.0:0.1431	.|.	.|.	.|.	.|.	X|L	324;324;324;208|27	.|.	ENSP00000265394:E324X|.	E|X	-|-	1|2	0|2	CPVL|CPVL	29070369|29070369	0.995000|0.995000	0.38212|0.38212	0.997000|0.997000	0.53966|0.53966	0.899000|0.899000	0.52679|0.52679	1.171000|1.171000	0.31896|0.31896	0.915000|0.915000	0.36847|0.36847	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.423	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		9	19	1	0	6.40141e-05	1	6.8015e-05	9	19				
NTSR2	23620	broad.mit.edu	37	2	11810004	11810006	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr2:11810004_11810006delCAG	ENST00000306928.5	-	1	284_286	c.250_252delCTG	c.(250-252)ctgdel	p.L84del		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	84					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCACGCCGACCAGCAGCAGCAGC	0.719																																						ENST00000306928.5																			0				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17						c.(250-252)ctgdel		neurotensin receptor 2	Levocabastine(DB01106)			77,3647		3,71,1788						0.2	0.8			7	168,7346		5,158,3594	no	coding	NTSR2	NM_012344.3		8,229,5382	A1A1,A1R,RR		2.2358,2.0677,2.1801				245,10993				SO:0001651	inframe_deletion	23620				sensory perception	integral to plasma membrane		g.chr2:11810004_11810006delCAG	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.250_252delCTG	2.37:g.11810013_11810015delCAG	ENSP00000303686:p.Leu84del		Somatic					p.L84del	NM_012344.3	NP_036476	WXS	Illumina GAIIx	Phase_I	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	1	284_286	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		84					Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	In_Frame_Del	DEL	ENST00000306928.5	37	c.250_252delCTG	CCDS1681.1																																																																																				0.719	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			2	4						2	4	---	---	---	---
RP11-360K13.1	0	broad.mit.edu	37	11	96514999	96515000	+	lincRNA	DEL	AA	AA	-	rs67317023|rs149392521		TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr11:96514999_96515000delAA	ENST00000527528.1	+	0	158																											CTTAGTTATTaaaaaaaaaaaa	0.371																																						ENST00000527528.1																			0																																																			0							g.chr11:96514999_96515000delAA																													11.37:g.96515009_96515010delAA			Somatic								WXS	Illumina GAIIx	Phase_I					0	158	+									RNA	DEL	ENST00000527528.1	37																																																																																						0.371	RP11-360K13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000395474.1			3	4						3	4	---	---	---	---
RP11-377D9.3	0	broad.mit.edu	37	12	13174141	13174142	+	lincRNA	INS	-	-	AAC	rs112328257|rs200245346|rs71436744	byFrequency	TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr12:13174141_13174142insAAC	ENST00000543321.1	+	0	1025																											tctgtctcaaaaacaacaacaa	0.55																																						ENST00000543321.1																			0																																																			0							g.chr12:13174141_13174142insAAC																													12.37:g.13174148_13174150dupAAC			Somatic								WXS	Illumina GAIIx	Phase_I					0	1025	+									RNA	INS	ENST00000543321.1	37																																																																																						0.550	RP11-377D9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401005.1			3	4						3	4	---	---	---	---
TIMM50	92609	broad.mit.edu	37	19	39971353	39971368	+	5'Flank	DEL	TGCGGCAATCCGCCCG	TGCGGCAATCCGCCCG	-			TCGA-VD-A8KD-01A-11D-A39W-08	TCGA-VD-A8KD-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd4f4f21-04a4-4fe5-9ca8-8be0d6bd6c3a	a2338692-9cc5-45ee-8184-16834236a11f	g.chr19:39971353_39971368delTGCGGCAATCCGCCCG	ENST00000607714.1	+	0	0				TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000314349.4_Frame_Shift_Del_p.CGNPPD57fs|TIMM50_ENST00000599794.1_5'Flank			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAAACGCGCCTGCGGCAATCCGCCCGATGCCTTTGG	0.667																																						ENST00000314349.4																			0				NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14						c.(169-186)tgcggcaatccgcccgatfs		translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)																																				SO:0001631	upstream_gene_variant	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39971353_39971368delTGCGGCAATCCGCCCG	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8			19.37:g.39971353_39971368delTGCGGCAATCCGCCCG	Exception_encountered		Somatic					p.CGNPPD57fs	NM_001001563.1	NP_001001563.1	WXS	Illumina GAIIx	Phase_I	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	302_317	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		33					Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Frame_Shift_Del	DEL	ENST00000607714.1	37	c.169_184delTGCGGCAATCCGCCCG																																																																																					0.667	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		6	13						6	13	---	---	---	---
