#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FFAR4	338557	broad.mit.edu	37	10	95326548	95326548	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:95326548G>T	ENST00000371483.4	+	1	127	c.71G>T	c.(70-72)cGc>cTc	p.R24L	FFAR4_ENST00000371481.4_Missense_Mutation_p.R24L|FFAR4_ENST00000604414.1_Missense_Mutation_p.R24L	NM_181745.3	NP_859529.2	Q5NUL3	FFAR4_HUMAN	free fatty acid receptor 4	24					hormone secretion (GO:0046879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of inflammatory response (GO:0050728)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of glucose transport (GO:0010827)	endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fatty acid binding (GO:0005504)|taste receptor activity (GO:0008527)										AACCGCACCCGCTTTCCCTTC	0.701																																						ENST00000371483.4																			0											c.(70-72)cGc>cTc		free fatty acid receptor 4							20.0	18.0	18.0					10																	95326548		2196	4297	6493	SO:0001583	missense	338557							g.chr10:95326548G>T		CCDS31248.1, CCDS55720.1	10q23.33	2012-11-16	2012-11-16	2012-11-16	ENSG00000186188	ENSG00000186188		"""GPCR / Class A : Fatty acid receptors"""	19061	protein-coding gene	gene with protein product		609044	"""G protein-coupled receptor 129"", ""G protein-coupled receptor 120"", ""omega-3 fatty acid receptor 1"""	GPR129, GPR120, O3FAR1		20471368, 19723586, 15619630, 20813258	Standard	NM_181745		Approved	PGR4	uc010qnt.2	Q5NUL3	OTTHUMG00000034409	ENST00000371483.4:c.71G>T	10.37:g.95326548G>T	ENSP00000360538:p.Arg24Leu					FFAR4_ENST00000604414.1_Missense_Mutation_p.R24L|FFAR4_ENST00000371481.4_Missense_Mutation_p.R24L	p.R24L	NM_181745.3	NP_859529.2					1	127	+								Q495H1|Q5VY25|Q5VY26|Q7Z605|Q86SM7	Missense_Mutation	SNP	ENST00000371483.4	37	c.71G>T	CCDS31248.1	.	.	.	.	.	.	.	.	.	.	G	8.758	0.923019	0.18056	.	.	ENSG00000186188	ENST00000371481;ENST00000371483	T;T	0.35236	1.32;1.32	5.22	2.84	0.33178	.	0.275476	0.31685	N	0.007232	T	0.18173	0.0436	L	0.27053	0.805	0.27748	N	0.94425	B;B	0.12630	0.001;0.006	B;B	0.10450	0.005;0.004	T	0.12915	-1.0529	10	0.12103	T	0.63	-19.4569	2.8994	0.05700	0.3087:0.0:0.3718:0.3195	.	24;24	Q5NUL3-2;Q5NUL3	.;O3FA1_HUMAN	L	24	ENSP00000360536:R24L;ENSP00000360538:R24L	ENSP00000360536:R24L	R	+	2	0	O3FAR1	95316538	.	.	1.000000	0.80357	0.801000	0.45260	.	.	1.088000	0.41272	0.561000	0.74099	CGC		0.701	FFAR4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083179.1	NM_181745		6	33	1	0	3.59834e-05	1	3.59834e-05	6	33				
FBLN7	129804	broad.mit.edu	37	2	112944825	112944825	+	Silent	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:112944825C>T	ENST00000331203.2	+	8	1333	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	FBLN7_ENST00000409667.3_Silent_p.L220L|FBLN7_ENST00000409450.3_Silent_p.L308L|FBLN7_ENST00000409903.1_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	354					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						CCATCACGCTCTTCCGCATGG	0.647																																						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.(1060-1062)ctC>ctT		fibulin 7							87.0	90.0	89.0					2																	112944825		2203	4300	6503	SO:0001819	synonymous_variant	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112944825C>T		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.1062C>T	2.37:g.112944825C>T						FBLN7_ENST00000409450.3_Silent_p.L308L|FBLN7_ENST00000409667.3_Silent_p.L220L|FBLN7_ENST00000409903.1_Intron	p.L354L	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN			8	1333	+			354					A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Silent	SNP	ENST00000331203.2	37	c.1062C>T	CCDS2095.1																																																																																				0.647	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		15	176	0	0	0	1	0	15	176				
HTR4	3360	broad.mit.edu	37	5	147889456	147889456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:147889456G>T	ENST00000377888.3	-	6	777	c.639C>A	c.(637-639)taC>taA	p.Y213*	HTR4_ENST00000362016.2_Nonsense_Mutation_p.Y227*|HTR4_ENST00000517929.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000521530.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000314512.6_Nonsense_Mutation_p.Y213*|HTR4_ENST00000521735.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000354217.2_Nonsense_Mutation_p.Y213*|HTR4_ENST00000520514.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000360693.3_Nonsense_Mutation_p.Y213*	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	213					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	CATAGATGCGGTAATAGGCCA	0.542																																					GBM(120;370 1604 14007 17804 41573)	ENST00000360693.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(637-639)taC>taA		5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)						104.0	89.0	94.0					5																	147889456		2203	4300	6503	SO:0001587	stop_gained	3360				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity	g.chr5:147889456G>T	Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.639C>A	5.37:g.147889456G>T	ENSP00000367120:p.Tyr213*					HTR4_ENST00000362016.2_Nonsense_Mutation_p.Y227*|HTR4_ENST00000521530.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000520514.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000314512.6_Nonsense_Mutation_p.Y213*|HTR4_ENST00000521735.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000354217.2_Nonsense_Mutation_p.Y213*|HTR4_ENST00000517929.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000377888.3_Nonsense_Mutation_p.Y213*	p.Y213*	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	777	-			213					C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Nonsense_Mutation	SNP	ENST00000377888.3	37	c.639C>A	CCDS4291.1	.	.	.	.	.	.	.	.	.	.	G	6.963	0.547576	0.13312	.	.	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	.	.	.	6.02	-3.32	0.04973	.	0.104499	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2689	0.66140	0.4032:0.0:0.5968:0.0	.	.	.	.	X	213;213;213;213;213;213;213;213;227	.	ENSP00000314906:Y213X	Y	-	3	2	HTR4	147869649	0.853000	0.29707	0.979000	0.43373	0.004000	0.04260	0.069000	0.14552	-0.457000	0.07033	-0.136000	0.14681	TAC		0.542	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2	NM_000870		23	38	1	0	2.89027e-11	1	3.01593e-11	23	38				
PRG4	10216	broad.mit.edu	37	1	186276487	186276487	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:186276487C>T	ENST00000445192.2	+	7	1681	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P453S|PRG4_ENST00000367486.3_Missense_Mutation_p.P503S|PRG4_ENST00000367483.4_Missense_Mutation_p.P505S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	546	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGTCTGCACCCACCACTCC	0.642																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1636-1638)Ccc>Tcc		proteoglycan 4							141.0	125.0	130.0					1																	186276487		2203	4299	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276487C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1636C>T	1.37:g.186276487C>T	ENSP00000399679:p.Pro546Ser					PRG4_ENST00000367486.3_Missense_Mutation_p.P503S|PRG4_ENST00000367485.4_Missense_Mutation_p.P453S|PRG4_ENST00000367483.4_Missense_Mutation_p.P505S|PRG4_ENST00000367484.3_Intron	p.P546S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1681	+			546			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1636C>T	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	c	3.432	-0.115969	0.06881	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.07688	3.18;3.27;3.17;3.29	2.25	1.25	0.21368	.	.	.	.	.	T	0.05914	0.0154	L	0.34521	1.04	0.09310	N	0.999995	B;B;B;B	0.26081	0.087;0.087;0.141;0.041	B;B;B;B	0.23574	0.047;0.047;0.021;0.047	T	0.39418	-0.9615	8	.	.	.	.	5.0698	0.14600	0.0:0.6095:0.2425:0.1479	.	412;453;546;505	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	S	503;412;505;453;546	ENSP00000356456:P503S;ENSP00000356453:P505S;ENSP00000356455:P453S;ENSP00000399679:P546S	.	P	+	1	0	PRG4	184543110	0.000000	0.05858	0.008000	0.14137	0.013000	0.08279	-0.001000	0.12947	0.982000	0.38575	0.437000	0.28790	CCC		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		42	81	0	0	0	1	0	42	81				
KHNYN	23351	broad.mit.edu	37	14	24909494	24909494	+	3'UTR	SNP	G	G	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr14:24909494G>T	ENST00000251343.5	+	0	5179				SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000555365.1_Missense_Mutation_p.A59D|SDR39U1_ENST00000538105.2_Missense_Mutation_p.A144D|SDR39U1_ENST00000399395.3_Missense_Mutation_p.A226D|SDR39U1_ENST00000399390.1_Missense_Mutation_p.A131D|SDR39U1_ENST00000553930.1_Missense_Mutation_p.A101D|SDR39U1_ENST00000554698.1_Missense_Mutation_p.A118D			O15037	KHNYN_HUMAN	KH and NYN domain containing								RNA binding (GO:0003723)			kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GGCAAACTCAGCATTAGTGGC	0.617																																						ENST00000554698.1																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						c.(352-354)gCt>gAt		short chain dehydrogenase/reductase family 39U, member 1							43.0	51.0	49.0					14																	24909494		2049	4202	6251	SO:0001624	3_prime_UTR_variant	56948						binding	g.chr14:24909494G>T	AB002321	CCDS32058.1	14q11.2	2010-11-23	2009-10-14	2009-10-14	ENSG00000100441	ENSG00000100441			20166	protein-coding gene	gene with protein product			"""KIAA0323"""	KIAA0323		17114934	Standard	NM_015299		Approved		uc001wph.4	O15037		ENST00000251343.5:c.*3003G>T	14.37:g.24909494G>T						KHNYN_ENST00000251343.5_3'UTR|SDR39U1_ENST00000538105.2_Missense_Mutation_p.A144D|SDR39U1_ENST00000399390.1_Missense_Mutation_p.A131D|SDR39U1_ENST00000399395.3_Missense_Mutation_p.A226D|SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000555365.1_Missense_Mutation_p.A59D|SDR39U1_ENST00000553930.1_Missense_Mutation_p.A101D	p.A118D			Q9NRG7	D39U1_HUMAN			4	860	-			252					Q86TZ6|Q8IUQ2|Q96BA9	Missense_Mutation	SNP	ENST00000251343.5	37	c.353C>A	CCDS32058.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.89|13.89	2.373303|2.373303	0.42105|0.42105	.|.	.|.	ENSG00000100445|ENSG00000100445	ENST00000399395;ENST00000336353;ENST00000399390;ENST00000553930;ENST00000538105;ENST00000554698;ENST00000555365;ENST00000553343;ENST00000555225;ENST00000555355;ENST00000556523|ENST00000556249	T;T;T;T;T;T;T;T;T;T|.	0.33865|.	2.12;1.82;1.82;1.81;1.84;1.86;1.83;1.44;1.39;1.41|.	4.71|4.71	3.77|3.77	0.43336|0.43336	NAD(P)-binding domain (1);|.	0.540943|.	0.19594|.	N|.	0.110542|.	T|T	0.60907|0.60907	0.2305|0.2305	M|M	0.68728|0.68728	2.09|2.09	0.32100|0.32100	N|N	0.590771|0.590771	P;P;P;P;B|.	0.46327|.	0.876;0.646;0.67;0.7;0.415|.	P;B;B;B;B|.	0.49301|.	0.606;0.144;0.299;0.207;0.194|.	T|T	0.66520|0.66520	-0.5903|-0.5903	10|5	0.14656|.	T|.	0.56|.	-2.858|-2.858	11.5707|11.5707	0.50832|0.50832	0.0:0.3179:0.6821:0.0|0.0:0.3179:0.6821:0.0	.|.	101;226;252;144;118|.	G3V5T1;Q9NRG7-2;Q9NRG7;F6RWC2;Q86TZ5|.	.;.;D39U1_HUMAN;.;.|.	D|M	226;252;131;101;144;118;59;120;59;101;59|149	ENSP00000382327:A226D;ENSP00000382322:A131D;ENSP00000452499:A101D;ENSP00000446077:A144D;ENSP00000452438:A118D;ENSP00000451903:A59D;ENSP00000452076:A120D;ENSP00000451593:A59D;ENSP00000450946:A101D;ENSP00000451275:A59D|.	ENSP00000336854:A252D|.	A|L	-|-	2|1	0|2	SDR39U1|SDR39U1	23979334|23979334	0.956000|0.956000	0.32656|0.32656	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	1.900000|1.900000	0.39828|0.39828	2.440000|2.440000	0.82611|0.82611	0.563000|0.563000	0.77884|0.77884	GCT|CTG		0.617	KHNYN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412928.1			21	37	1	0	4.96729e-08	1	5.03725e-08	21	37				
HERC1	8925	broad.mit.edu	37	15	63972937	63972937	+	Silent	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:63972937C>T	ENST00000443617.2	-	35	6351	c.6264G>A	c.(6262-6264)acG>acA	p.T2088T	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2088	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTCCAACACACGTGCCTTCAT	0.373																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(6262-6264)acG>acA		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							188.0	176.0	180.0					15																	63972937		1897	4118	6015	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63972937C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6264G>A	15.37:g.63972937C>T						RP11-317G6.1_ENST00000559303.2_RNA	p.T2088T	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			35	6351	-			2088			B30.2/SPRY.		Q8IW65	Silent	SNP	ENST00000443617.2	37	c.6264G>A	CCDS45277.1																																																																																				0.373	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		23	168	0	0	0	1	0	23	168				
FAM120A	23196	broad.mit.edu	37	9	96324505	96324505	+	Silent	SNP	T	T	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:96324505T>A	ENST00000277165.6	+	17	3158	c.2964T>A	c.(2962-2964)gtT>gtA	p.V988V	FAM120A_ENST00000333936.5_Silent_p.V1016V|FAM120A_ENST00000340893.4_Silent_p.V942V	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	988	RNA binding.					cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAAGAGGAGTTATTTCCACCC	0.368																																						ENST00000277165.6																			0				endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2962-2964)gtT>gtA		family with sequence similarity 120A							159.0	138.0	145.0					9																	96324505		2203	4300	6503	SO:0001819	synonymous_variant	23196					cytoplasm|plasma membrane	RNA binding	g.chr9:96324505T>A	AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.2964T>A	9.37:g.96324505T>A						FAM120A_ENST00000340893.4_Silent_p.V942V|FAM120A_ENST00000333936.5_Silent_p.V1016V	p.V988V	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN			17	3158	+			988			RNA binding.		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Silent	SNP	ENST00000277165.6	37	c.2964T>A	CCDS6706.1																																																																																				0.368	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612		18	46	0	0	0	1	0	18	46				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	52	0	0	0	1	0	4	52				
FLT3	2322	broad.mit.edu	37	13	28611413	28611413	+	Silent	SNP	A	A	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr13:28611413A>G	ENST00000241453.7	-	10	1299	c.1218T>C	c.(1216-1218)ttT>ttC	p.F406F	FLT3_ENST00000380982.4_Silent_p.F406F|FLT3_ENST00000537084.1_Silent_p.F406F	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	406					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATGATTGCAAAACTTGGATA	0.378			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1216-1218)ttT>ttC		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						96.0	98.0	97.0					13																	28611413		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28611413A>G	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1218T>C	13.37:g.28611413A>G						FLT3_ENST00000241453.7_Silent_p.F406F|FLT3_ENST00000537084.1_Silent_p.F406F	p.F406F			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	10	1299	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	406					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.1218T>C	CCDS31953.1																																																																																				0.378	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			9	75	0	0	0	1	0	9	75				
ZNF804A	91752	broad.mit.edu	37	2	185802239	185802239	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:185802239G>A	ENST00000302277.6	+	4	2710	c.2116G>A	c.(2116-2118)Gca>Aca	p.A706T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	706							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACAATCAAATGCAACAATGAT	0.308																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2116-2118)Gca>Aca		zinc finger protein 804A							71.0	65.0	67.0					2																	185802239		2198	4292	6490	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802239G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2116G>A	2.37:g.185802239G>A	ENSP00000303252:p.Ala706Thr						p.A706T	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2710	+			706					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2116G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078721	0.36662	.	.	ENSG00000170396	ENST00000302277	T	0.05717	3.4	5.78	0.841	0.18918	.	0.994182	0.08159	N	0.988731	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.46582	-0.9181	10	0.37606	T	0.19	-0.2926	6.3983	0.21624	0.0:0.411:0.3745:0.2145	.	706	Q7Z570	Z804A_HUMAN	T	706	ENSP00000303252:A706T	ENSP00000303252:A706T	A	+	1	0	ZNF804A	185510484	0.000000	0.05858	0.001000	0.08648	0.127000	0.20565	-0.101000	0.10973	-0.126000	0.11682	-0.757000	0.03467	GCA		0.308	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		4	98	0	0	0	1	0	4	98				
IL27RA	9466	broad.mit.edu	37	19	14157294	14157294	+	Silent	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:14157294G>A	ENST00000263379.2	+	8	1130	c.1005G>A	c.(1003-1005)acG>acA	p.T335T		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	335	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTGGGAGCACGGAGCTACTGG	0.627																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(1003-1005)acG>acA		interleukin 27 receptor, alpha							90.0	95.0	93.0					19																	14157294		2203	4300	6503	SO:0001819	synonymous_variant	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14157294G>A	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1005G>A	19.37:g.14157294G>A							p.T335T	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			8	1130	+			335			Fibronectin type-III 2.		A0N0L1|O60624	Silent	SNP	ENST00000263379.2	37	c.1005G>A	CCDS12303.1																																																																																				0.627	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		14	203	0	0	0	1	0	14	203				
CWC27	10283	broad.mit.edu	37	5	64096085	64096085	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:64096085G>A	ENST00000381070.3	+	8	897	c.680G>A	c.(679-681)gGc>gAc	p.G227D	CWC27_ENST00000508024.1_Missense_Mutation_p.G227D	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	227					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGCATGAAGGGCAAAAGCAAA	0.358																																						ENST00000508024.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						c.(679-681)gGc>gAc		CWC27 spliceosome-associated protein homolog (S. cerevisiae)							180.0	168.0	172.0					5																	64096085		2203	4300	6503	SO:0001583	missense	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64096085G>A	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.680G>A	5.37:g.64096085G>A	ENSP00000370460:p.Gly227Asp					CWC27_ENST00000381070.3_Missense_Mutation_p.G227D	p.G227D			Q6UX04	CWC27_HUMAN			8	881	+			227					O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	c.680G>A	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	G	16.59	3.165385	0.57476	.	.	ENSG00000153015	ENST00000381070;ENST00000508024;ENST00000538793	T;T	0.55930	0.49;0.49	5.55	5.55	0.83447	.	0.101488	0.64402	D	0.000002	T	0.59918	0.2229	M	0.63169	1.94	0.54753	D	0.999987	P;B;P;P	0.45396	0.512;0.186;0.55;0.857	B;B;P;P	0.49047	0.394;0.12;0.599;0.558	T	0.56135	-0.8029	10	0.30078	T	0.28	.	16.4876	0.84189	0.0:0.0:1.0:0.0	.	227;227;227;227	Q6UX04-2;Q6UX04;F5H636;D6REK3	.;CWC27_HUMAN;.;.	D	227	ENSP00000370460:G227D;ENSP00000426802:G227D	ENSP00000370460:G227D	G	+	2	0	CWC27	64131841	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	6.798000	0.75155	2.622000	0.88805	0.558000	0.71614	GGC		0.358	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		4	94	0	0	0	1	0	4	94				
SVILP1	645954	broad.mit.edu	37	10	30986364	30986364	+	RNA	SNP	G	G	A	rs7078530	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:30986364G>A	ENST00000435645.1	+	0	354									supervillin pseudogene 1																		CAATAGTGGGGACTGCTTCCT	0.537													G|||	2413	0.481829	0.2859	0.5144	5008	,	,		18771	0.3919		0.6352	False		,,,				2504	0.6585					ENST00000435645.1																			0																																																			0							g.chr10:30986364G>A			10p11.23	2012-12-20			ENSG00000234814	ENSG00000234814			44959	pseudogene	pseudogene							Standard	NR_036438		Approved				OTTHUMG00000017900		10.37:g.30986364G>A														0	354	+									RNA	SNP	ENST00000435645.1	37																																																																																						0.537	SVILP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331601.1			3	26	0	0	0	1	0	3	26				
GDPD1	284161	broad.mit.edu	37	17	57348316	57348316	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr17:57348316A>G	ENST00000284116.4	+	8	867	c.730A>G	c.(730-732)Atg>Gtg	p.M244V	GDPD1_ENST00000581140.1_Missense_Mutation_p.M244V|GDPD1_ENST00000581276.1_Missense_Mutation_p.M244V	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	244	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ACCACACACCATGTCCAGAAG	0.279																																						ENST00000284116.4																			0				endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6						c.(730-732)Atg>Gtg		glycerophosphodiester phosphodiesterase domain containing 1							105.0	110.0	109.0					17																	57348316		2203	4297	6500	SO:0001583	missense	284161				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr17:57348316A>G	AK094770	CCDS11616.1, CCDS58583.1, CCDS58584.1	17q23.2	2011-01-25				ENSG00000153982			20883	protein-coding gene	gene with protein product						14612981	Standard	NM_182569		Approved	FLJ37451, GDE4	uc002ixk.2	Q8N9F7		ENST00000284116.4:c.730A>G	17.37:g.57348316A>G	ENSP00000284116:p.Met244Val					GDPD1_ENST00000581140.1_Missense_Mutation_p.M244V|GDPD1_ENST00000581276.1_Missense_Mutation_p.M244V	p.M244V	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN			8	867	+	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)		244			GDPD.		A8W735|Q56VR1|Q8N4E3	Missense_Mutation	SNP	ENST00000284116.4	37	c.730A>G	CCDS11616.1	.	.	.	.	.	.	.	.	.	.	A	9.701	1.154470	0.21371	.	.	ENSG00000153982	ENST00000284116	T	0.09538	2.97	5.44	5.44	0.79542	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.230980	0.51477	D	0.000098	T	0.10035	0.0246	L	0.40543	1.245	0.39854	D	0.973289	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17077	-1.0381	10	0.17832	T	0.49	.	13.2241	0.59905	1.0:0.0:0.0:0.0	.	244;244	Q8N9F7;Q8N9F7-2	GDPD1_HUMAN;.	V	244	ENSP00000284116:M244V	ENSP00000284116:M244V	M	+	1	0	GDPD1	54703098	0.998000	0.40836	0.998000	0.56505	0.924000	0.55760	3.530000	0.53539	2.068000	0.61886	0.482000	0.46254	ATG		0.279	GDPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446024.1	NM_182569		34	76	0	0	0	1	0	34	76				
OGDHL	55753	broad.mit.edu	37	10	50953529	50953529	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:50953529C>T	ENST00000374103.4	-	12	1575	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	OGDHL_ENST00000419399.1_Missense_Mutation_p.R440Q|OGDHL_ENST00000432695.1_Missense_Mutation_p.R288Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	497					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GTGGCCACGCCGGCGGTAACA	0.572																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(1489-1491)cGg>cAg		oxoglutarate dehydrogenase-like							77.0	72.0	74.0					10																	50953529		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50953529C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1490G>A	10.37:g.50953529C>T	ENSP00000363216:p.Arg497Gln					OGDHL_ENST00000419399.1_Missense_Mutation_p.R440Q|OGDHL_ENST00000432695.1_Missense_Mutation_p.R288Q	p.R497Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			12	1575	-			497					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1490G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	33	5.282234	0.95489	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;D	0.95885	2.48;2.48;-3.84	5.3	5.3	0.74995	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98096	0.9372	M	0.93328	3.405	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.999	D;D;D	0.71870	0.957;0.931;0.975	D	0.98705	1.0702	10	0.87932	D	0	.	13.6167	0.62112	0.0:0.9252:0.0:0.0748	.	440;288;497	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	Q	497;440;288	ENSP00000363216:R497Q;ENSP00000401356:R440Q;ENSP00000390240:R288Q	ENSP00000363216:R497Q	R	-	2	0	OGDHL	50623535	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.004000	0.70709	2.647000	0.89833	0.650000	0.86243	CGG		0.572	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		26	73	0	0	0	1	0	26	73				
KIF24	347240	broad.mit.edu	37	9	34257924	34257924	+	Missense_Mutation	SNP	G	G	A	rs144983593		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:34257924G>A	ENST00000402558.2	-	10	1705	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W	KIF24_ENST00000345050.2_Missense_Mutation_p.R427W|KIF24_ENST00000379166.2_Missense_Mutation_p.R561W|KIF24_ENST00000379174.3_Missense_Mutation_p.R427W			Q5T7B8	KIF24_HUMAN	kinesin family member 24	561					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCAGATGTCCGATTTCGACTG	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		19997	0.0		0.0	False		,,,				2504	0.001					ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1681-1683)Cgg>Tgg		kinesin family member 24							121.0	131.0	128.0					9																	34257924		2203	4300	6503	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34257924G>A	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1681C>T	9.37:g.34257924G>A	ENSP00000384433:p.Arg561Trp					KIF24_ENST00000379174.3_Missense_Mutation_p.R427W|KIF24_ENST00000402558.2_Missense_Mutation_p.R561W|KIF24_ENST00000345050.2_Missense_Mutation_p.R427W	p.R561W	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		11	1800	-			561					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.1681C>T	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	16.88	3.244799	0.59103	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.73575	-0.54;-0.76;-0.54;-0.76	5.53	4.62	0.57501	.	0.454742	0.16183	N	0.225744	T	0.77765	0.4179	M	0.67953	2.075	0.21416	N	0.999692	D	0.76494	0.999	P	0.47528	0.549	T	0.71609	-0.4541	10	0.66056	D	0.02	.	15.5999	0.76616	0.0:0.0:0.8611:0.1389	.	561	Q5T7B8	KIF24_HUMAN	W	561;427;561;427;561	ENSP00000384433:R561W;ENSP00000368472:R427W;ENSP00000368464:R561W;ENSP00000340179:R427W	ENSP00000340179:R427W	R	-	1	2	KIF24	34247924	0.967000	0.33354	0.513000	0.27749	0.516000	0.34256	3.145000	0.50623	1.299000	0.44798	0.655000	0.94253	CGG		0.398	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			112	56	0	0	0	1	0	112	56				
ZNF229	7772	broad.mit.edu	37	19	44932761	44932761	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:44932761C>T	ENST00000588931.1	-	6	2628	c.2195G>A	c.(2194-2196)aGa>aAa	p.R732K	ZNF229_ENST00000291187.4_Missense_Mutation_p.R726K|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	732					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGTGTGCACTCTCTTATGACT	0.517																																						ENST00000291187.4																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(2176-2178)aGa>aAa		zinc finger protein 229							61.0	67.0	65.0					19																	44932761		2178	4292	6470	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44932761C>T	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.2195G>A	19.37:g.44932761C>T	ENSP00000466519:p.Arg732Lys					ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.R732K|CTC-512J12.4_ENST00000588655.1_RNA	p.R726K	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	2499	-		Prostate(69;0.0352)	732					B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.2177G>A	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046856	0.75846	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.82	0.165	0.14995	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.25195	0.0612	L	0.42529	1.33	0.09310	N	1	P	0.36465	0.554	B	0.32928	0.155	T	0.12811	-1.0533	8	0.48119	T	0.1	.	5.8363	0.18609	0.1502:0.6665:0.0:0.1833	.	732	Q9UJW7	ZN229_HUMAN	K	732	.	ENSP00000291187:R732K	R	-	2	0	ZNF229	49624601	0.000000	0.05858	0.025000	0.17156	0.445000	0.32107	0.189000	0.17037	0.109000	0.17891	0.609000	0.83330	AGA		0.517	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		4	45	0	0	0	1	0	4	45				
FAM83B	222584	broad.mit.edu	37	6	54735129	54735129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr6:54735129C>T	ENST00000306858.7	+	2	201	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	29										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGAATGGTATCGAGTAGCCAT	0.403																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(85-87)Cga>Tga		family with sequence similarity 83, member B							137.0	126.0	129.0					6																	54735129		2203	4300	6503	SO:0001587	stop_gained	222584							g.chr6:54735129C>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.85C>T	6.37:g.54735129C>T	ENSP00000304078:p.Arg29*						p.R29*	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			2	201	+	Lung NSC(77;0.0178)|Renal(3;0.122)		29					Q2M1P3|Q96DQ2	Nonsense_Mutation	SNP	ENST00000306858.7	37	c.85C>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	37	6.365651	0.97507	.	.	ENSG00000168143	ENST00000306858	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.776	14.5555	0.68097	0.1469:0.8531:0.0:0.0	.	.	.	.	X	29	.	ENSP00000304078:R29X	R	+	1	2	FAM83B	54843088	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.614000	0.61183	2.525000	0.85131	0.467000	0.42956	CGA		0.403	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		55	141	0	0	0	1	0	55	141				
KCNA10	3744	broad.mit.edu	37	1	111060317	111060317	+	Missense_Mutation	SNP	C	C	T	rs190117605		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:111060317C>T	ENST00000369771.2	-	1	1480	c.1093G>A	c.(1093-1095)Ggg>Agg	p.G365R		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	365					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	AGTGTTTGCCCGAGGATCTGC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		20618	0.0		0.001	False		,,,				2504	0.0					ENST00000369771.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(1093-1095)Ggg>Agg		potassium voltage-gated channel, shaker-related subfamily, member 10							98.0	95.0	96.0					1																	111060317		2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060317C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1093G>A	1.37:g.111060317C>T	ENSP00000358786:p.Gly365Arg						p.G365R	NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1480	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	365						Missense_Mutation	SNP	ENST00000369771.2	37	c.1093G>A	CCDS826.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.76	3.211498	0.58343	.	.	ENSG00000143105	ENST00000369771	D	0.98701	-5.08	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99544	1.0964	10	0.87932	D	0	.	18.3064	0.90184	0.0:1.0:0.0:0.0	.	365	Q16322	KCA10_HUMAN	R	365	ENSP00000358786:G365R	ENSP00000358786:G365R	G	-	1	0	KCNA10	110861840	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	7.815000	0.86186	2.676000	0.91093	0.558000	0.71614	GGG		0.557	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		73	59	0	0	0	1	0	73	59				
CYP26B1	56603	broad.mit.edu	37	2	72362274	72362274	+	Splice_Site	SNP	C	C	T	rs267599444		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:72362274C>T	ENST00000001146.2	-	3	907	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	CYP26B1_ENST00000412253.1_Splice_Site_p.R44Q|CYP26B1_ENST00000546307.1_Splice_Site_p.R160Q	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	235					bone morphogenesis (GO:0060349)|cell fate determination (GO:0001709)|cellular response to retinoic acid (GO:0071300)|cornification (GO:0070268)|embryonic limb morphogenesis (GO:0030326)|establishment of skin barrier (GO:0061436)|male meiosis (GO:0007140)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of tongue muscle cell differentiation (GO:2001037)|proximal/distal pattern formation (GO:0009954)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|tongue morphogenesis (GO:0043587)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTGCTCACCCGCCGGTAGCC	0.637																																						ENST00000001146.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						c.e3+1		cytochrome P450, family 26, subfamily B, polypeptide 1							34.0	38.0	36.0					2																	72362274		2203	4300	6503	SO:0001630	splice_region_variant	56603				cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	g.chr2:72362274C>T		CCDS1919.1, CCDS62934.1	2p12	2006-11-24			ENSG00000003137	ENSG00000003137		"""Cytochrome P450s"""	20581	protein-coding gene	gene with protein product		605207				10545224	Standard	NM_019885		Approved	P450RAI-2	uc002sih.2	Q9NR63	OTTHUMG00000129756	ENST00000001146.2:c.705+1G>A	2.37:g.72362274C>T						CYP26B1_ENST00000412253.1_Splice_Site_p.R44_splice|CYP26B1_ENST00000546307.1_Splice_Site_p.R160_splice	p.R235_splice	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN			3	907	-			235					B2R8M7|B7Z2K6|B7Z2P4|B7Z3B8|E4W5W7|Q32MC0|Q53TW1|Q9NP41	Splice_Site	SNP	ENST00000001146.2	37	c.705_splice	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845697	0.91197	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307;ENST00000474509	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.03	5.03	0.67393	.	0.052058	0.64402	D	0.000001	T	0.72236	0.3435	L	0.49513	1.565	0.42316	D	0.992237	D;P;P	0.57899	0.981;0.884;0.782	P;P;P	0.53490	0.727;0.603;0.523	T	0.74153	-0.3757	10	0.49607	T	0.09	-11.2762	17.3091	0.87204	0.0:1.0:0.0:0.0	.	160;218;235	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	Q	235;44;160;160	ENSP00000001146:R235Q;ENSP00000401465:R44Q;ENSP00000443304:R160Q;ENSP00000430888:R160Q	ENSP00000001146:R235Q	R	-	2	0	CYP26B1	72215782	0.996000	0.38824	0.992000	0.48379	0.865000	0.49528	2.511000	0.45476	2.504000	0.84457	0.655000	0.94253	CGG		0.637	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	NM_019885	Missense_Mutation	4	55	0	0	0	1	0	4	55				
DUSP27	92235	broad.mit.edu	37	1	167096396	167096396	+	Silent	SNP	G	G	A	rs376593703		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:167096396G>A	ENST00000361200.2	+	6	2194	c.2028G>A	c.(2026-2028)acG>acA	p.T676T	DUSP27_ENST00000271385.5_Silent_p.T676T|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.T676T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	676					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGACACGACGTCAGTACTGA	0.637																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(2026-2028)acG>acA		dual specificity phosphatase 27 (putative)		G		0,4406		0,0,2203	48.0	49.0	49.0		2028	-9.1	0.0	1		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DUSP27	NM_001080426.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		676/1159	167096396	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096396G>A	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2028G>A	1.37:g.167096396G>A						DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Silent_p.T676T|DUSP27_ENST00000271385.5_Silent_p.T676T	p.T676T			Q5VZP5	DUS27_HUMAN			6	2194	+			676					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.2028G>A	CCDS30932.1																																																																																				0.637	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		5	45	0	0	0	1	0	5	45				
SMARCD2	6603	broad.mit.edu	37	17	61911645	61911645	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr17:61911645C>T	ENST00000448276.2	-	8	1230	c.965G>A	c.(964-966)gGa>gAa	p.G322E	SMARCD2_ENST00000225742.9_Missense_Mutation_p.G247E|SMARCD2_ENST00000323347.10_Missense_Mutation_p.G274E	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	322	SWIB.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CGTGTGCACTCCCAGCAGCCT	0.567											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000448276.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						c.(964-966)gGa>gAa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2							26.0	27.0	27.0					17																	61911645		2014	4165	6179	SO:0001583	missense	6603				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity	g.chr17:61911645C>T	U66618	CCDS45756.1	17q23.3	2014-07-16			ENSG00000108604	ENSG00000108604			11107	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60B"", ""Swp73-like protein"", ""chromatin remodeling complex BAF60B subunit"", ""SWI/SNF complex 60 kDa subunit B"""	601736				8804307, 9693044	Standard	NM_001098426		Approved	BAF60B, Rsc6p, CRACD2, PRO2451	uc010deb.1	Q92925	OTTHUMG00000179045	ENST00000448276.2:c.965G>A	17.37:g.61911645C>T	ENSP00000392617:p.Gly322Glu		OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1057	SMARCD2_ENST00000323347.10_Missense_Mutation_p.G274E|SMARCD2_ENST00000225742.9_Missense_Mutation_p.G247E	p.G322E	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN			8	1230	-			322			SWIB.		A5PLL5|A6NNQ7|B4DV56|B4E1R6|Q7L2I6|Q9UHZ1	Missense_Mutation	SNP	ENST00000448276.2	37	c.965G>A	CCDS45756.1	.	.	.	.	.	.	.	.	.	.	.	10.91	1.484002	0.26598	.	.	ENSG00000108604	ENST00000448276;ENST00000225742;ENST00000450364;ENST00000323347	T;T	0.58940	0.3;0.37	5.55	5.55	0.83447	SWIB/MDM2 domain (2);	0.000000	0.85682	D	0.000000	D	0.82412	0.5031	M	0.93638	3.44	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.86256	0.1652	10	0.87932	D	0	-22.3518	17.0466	0.86505	0.0:1.0:0.0:0.0	.	274;285;322	Q92925-3;B9EGA3;Q92925	.;.;SMRD2_HUMAN	E	322;264;285;274	ENSP00000392617:G322E;ENSP00000318451:G274E	ENSP00000225742:G264E	G	-	2	0	SMARCD2	59265377	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	7.651000	0.83577	2.894000	0.99253	0.655000	0.94253	GGA		0.567	SMARCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444544.1	NM_001098426		7	23	0	0	0	1	0	7	23				
TACC1	6867	broad.mit.edu	37	8	38678119	38678119	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr8:38678119G>C	ENST00000317827.4	+	3	1736	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q	TACC1_ENST00000520973.1_Missense_Mutation_p.E258Q|TACC1_ENST00000518415.1_Missense_Mutation_p.E408Q|TACC1_ENST00000519416.1_Missense_Mutation_p.E258Q|TACC1_ENST00000520615.1_Missense_Mutation_p.E258Q|TACC1_ENST00000443286.2_Missense_Mutation_p.E469Q|TACC1_ENST00000379931.3_Missense_Mutation_p.E453Q|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520611.1_5'UTR|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520340.1_Missense_Mutation_p.E417Q|TACC1_ENST00000330691.6_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	453	SPAZ 2.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGAAATCTTAGAATCACCCAA	0.453																																						ENST00000379931.3																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17						c.(1357-1359)Gaa>Caa		transforming, acidic coiled-coil containing protein 1							133.0	144.0	140.0					8																	38678119		2203	4300	6503	SO:0001583	missense	6867				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	g.chr8:38678119G>C	AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1357G>C	8.37:g.38678119G>C	ENSP00000321703:p.Glu453Gln					TACC1_ENST00000317827.4_Missense_Mutation_p.E453Q|TACC1_ENST00000520340.1_Missense_Mutation_p.E417Q|TACC1_ENST00000519416.1_Missense_Mutation_p.E258Q|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520973.1_Missense_Mutation_p.E258Q|TACC1_ENST00000443286.2_Missense_Mutation_p.E469Q|TACC1_ENST00000518415.1_Missense_Mutation_p.E408Q|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520615.1_Missense_Mutation_p.E258Q|TACC1_ENST00000520611.1_5'UTR	p.E453Q			O75410	TACC1_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)		3	1736	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	453			SPAZ 2.		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	ENST00000317827.4	37	c.1357G>C	CCDS6109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.67|17.67	3.446301|3.446301	0.63178|0.63178	.|.	.|.	ENSG00000147526|ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000520973|ENST00000521866;ENST00000518809	T;T;T;T;T;T;T;T|.	0.10192|.	2.93;2.93;3.04;3.05;2.91;3.08;3.02;2.9|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.366777|.	0.28665|.	N|.	0.014559|.	T|.	0.63355|.	0.2504|.	L|L	0.56769|0.56769	1.78|1.78	0.30873|0.30873	N|N	0.732218|0.732218	P;B;B;P;D;B;P;B|.	0.63046|.	0.948;0.046;0.046;0.935;0.992;0.124;0.951;0.08|.	P;B;B;B;P;B;P;B|.	0.58660|.	0.628;0.008;0.008;0.398;0.843;0.051;0.503;0.047|.	T|.	0.63625|.	-0.6595|.	10|.	0.21014|.	T|.	0.42|.	-5.1624|-5.1624	17.9839|17.9839	0.89150|0.89150	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	258;258;258;469;453;453;258;408|.	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;E7ET87;O75410-7|.	.;.;.;.;.;TACC1_HUMAN;.;.|.	Q|Y	258;258;258;469;408;425;453;453;258|227;90	ENSP00000428687:E258Q;ENSP00000428450:E258Q;ENSP00000393647:E469Q;ENSP00000428706:E408Q;ENSP00000430355:E425Q;ENSP00000321703:E453Q;ENSP00000369263:E453Q;ENSP00000430959:E258Q|.	ENSP00000321703:E453Q|.	E|X	+|+	1|3	0|2	TACC1|TACC1	38797276|38797276	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.421000|0.421000	0.31385|0.31385	6.485000|6.485000	0.73625|0.73625	2.669000|2.669000	0.90835|0.90835	0.655000|0.655000	0.94253|0.94253	GAA|TAG		0.453	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376768.1	NM_006283		104	212	0	0	0	1	0	104	212				
SEC1P	653677	broad.mit.edu	37	19	49183574	49183574	+	RNA	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:49183574C>T	ENST00000430145.2	+	0	661					NR_004401.2				secretory blood group 1, pseudogene																		TGCACAGCACCCTGGCCCCCA	0.667																																						ENST00000430145.2																			0																																																			0							g.chr19:49183574C>T			19q13.33	2012-07-04			ENSG00000232871	ENSG00000232871			44149	pseudogene	pseudogene							Standard	NR_004401		Approved		uc010xzv.2		OTTHUMG00000154617		19.37:g.49183574C>T								NR_004401.2						0	661	+									RNA	SNP	ENST00000430145.2	37																																																																																						0.667	SEC1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000336334.1	NR_004401		4	18	0	0	0	1	0	4	18				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	74	0	0	0	1	0	26	74				
OR13G1	441933	broad.mit.edu	37	1	247835570	247835570	+	Silent	SNP	G	G	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:247835570G>T	ENST00000359688.2	-	1	795	c.774C>A	c.(772-774)cgC>cgA	p.R258R	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGAAGCAGGGCGGATATAGG	0.463																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(772-774)cgC>cgA		olfactory receptor, family 13, subfamily G, member 1							137.0	124.0	129.0					1																	247835570		2203	4300	6503	SO:0001819	synonymous_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835570G>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.774C>A	1.37:g.247835570G>T						RP11-634B7.4_ENST00000449298.1_RNA	p.R258R	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	795	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		258					B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	c.774C>A	CCDS31094.1																																																																																				0.463	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		26	145	1	0	1.75199e-13	1	1.85504e-13	26	145				
DUOX2	50506	broad.mit.edu	37	15	45398797	45398797	+	Missense_Mutation	SNP	C	C	T	rs373620034		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:45398797C>T	ENST00000603300.1	-	16	2076	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	DUOX2_ENST00000389039.6_Missense_Mutation_p.R625Q	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	625					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTGTGTTCTCGGCCCCGGAA	0.557																																						ENST00000389039.6																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63						c.(1873-1875)cGa>cAa		dual oxidase 2		C	GLN/ARG	0,4396		0,0,2198	154.0	150.0	151.0		1874	-1.0	1.0	15		151	1,8595	1.2+/-3.3	0,1,4297	no	missense	DUOX2	NM_014080.4	43	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	625/1549	45398797	1,12991	2198	4298	6496	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45398797C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1874G>A	15.37:g.45398797C>T	ENSP00000475084:p.Arg625Gln					DUOX2_ENST00000603300.1_Missense_Mutation_p.R625Q	p.R625Q			Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	16	2259	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	625					A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.1874G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357373	0.41801	0.0	1.16E-4	ENSG00000140279	ENST00000389039	.	.	.	5.42	-1.02	0.10135	.	0.584816	0.18081	N	0.152290	T	0.49287	0.1548	M	0.72894	2.215	0.40470	D	0.980336	B;B	0.31931	0.188;0.347	B;B	0.24701	0.023;0.055	T	0.44467	-0.9326	9	0.42905	T	0.14	-3.1592	9.9682	0.41738	0.0:0.6012:0.0:0.3988	.	625;187	Q9NRD8;Q59GU9	DUOX2_HUMAN;.	Q	625	.	ENSP00000373691:R625Q	R	-	2	0	DUOX2	43186089	0.024000	0.19004	0.990000	0.47175	0.648000	0.38561	-0.235000	0.09016	-0.185000	0.10550	0.455000	0.32223	CGA		0.557	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_014080		31	165	0	0	0	1	0	31	165				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	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						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			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	85	0	0	0	1	0	4	85				
ADRBK1	156	broad.mit.edu	37	11	67046685	67046685	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr11:67046685C>G	ENST00000308595.5	+	3	495	c.205C>G	c.(205-207)Cga>Gga	p.R69G	ADRBK1_ENST00000526285.1_Missense_Mutation_p.R69G	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	69	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.R69R(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCTGCTCTTCCGAGACTTCTG	0.592																																						ENST00000308595.5																			1	Substitution - coding silent(1)	p.R69R(1)	lung(1)	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(205-207)Cga>Gga		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						96.0	88.0	91.0					11																	67046685		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67046685C>G	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.205C>G	11.37:g.67046685C>G	ENSP00000312262:p.Arg69Gly					ADRBK1_ENST00000526285.1_Missense_Mutation_p.R69G	p.R69G	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		3	495	+			69			N-terminal.|RGS.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.205C>G	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.617891	0.66787	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	T;T	0.02498	4.27;4.27	4.5	3.52	0.40303	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.44285	D	0.000474	T	0.03695	0.0105	L	0.34521	1.04	0.42422	D	0.99264	P;P	0.43633	0.813;0.653	B;B	0.42798	0.349;0.398	T	0.51787	-0.8661	10	0.72032	D	0.01	-12.0751	12.9449	0.58367	0.1611:0.8389:0.0:0.0	.	69;69	P25098;E9PRV7	ARBK1_HUMAN;.	G	69	ENSP00000312262:R69G;ENSP00000434126:R69G	ENSP00000312262:R69G	R	+	1	2	ADRBK1	66803261	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.656000	0.37355	2.504000	0.84457	0.655000	0.94253	CGA		0.592	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		6	71	0	0	0	1	0	6	71				
ASIC5	51802	broad.mit.edu	37	4	156764859	156764859	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr4:156764859C>T	ENST00000537611.2	-	5	881	c.835G>A	c.(835-837)Gca>Aca	p.A279T		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	279					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										GTTACCCTTGCGTGCATTCCC	0.448																																						ENST00000537611.2																			0											c.(835-837)Gca>Aca		acid-sensing (proton-gated) ion channel family member 5							156.0	131.0	139.0					4																	156764859		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156764859C>T	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.835G>A	4.37:g.156764859C>T	ENSP00000442477:p.Ala279Thr						p.A279T	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			5	881	-			279						Missense_Mutation	SNP	ENST00000537611.2	37	c.835G>A	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	C	4.481	0.089072	0.08583	.	.	ENSG00000256394	ENST00000537611	T	0.58940	0.3	4.4	-1.76	0.08006	.	0.582071	0.16428	N	0.214858	T	0.35248	0.0925	L	0.28344	0.845	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.33954	-0.9848	10	0.02654	T	1	-0.0696	11.6158	0.51090	0.0:0.6517:0.0:0.3483	.	279	Q9NY37	ACCN5_HUMAN	T	279	ENSP00000442477:A279T	ENSP00000264432:A279T	A	-	1	0	ACCN5	156984309	0.001000	0.12720	0.002000	0.10522	0.186000	0.23388	-0.149000	0.10204	-0.588000	0.05882	-1.287000	0.01368	GCA		0.448	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			35	105	0	0	0	1	0	35	105				
MYO9A	4649	broad.mit.edu	37	15	72190411	72190411	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:72190411A>T	ENST00000356056.5	-	25	4905	c.4433T>A	c.(4432-4434)tTg>tAg	p.L1478*	MYO9A_ENST00000444904.1_Nonsense_Mutation_p.L1459*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.L1478*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.L1478*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.L1098*|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1478	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTCTGTATTCAAAGAAGGAAC	0.393																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(4432-4434)tTg>tAg		myosin IXA							103.0	96.0	98.0					15																	72190411		2199	4297	6496	SO:0001587	stop_gained	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72190411A>T	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.4433T>A	15.37:g.72190411A>T	ENSP00000348349:p.Leu1478*					MYO9A_ENST00000564571.1_Nonsense_Mutation_p.L1478*|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.L1478*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.L1459*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.L1098*	p.L1478*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			25	4905	-			1478			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Nonsense_Mutation	SNP	ENST00000356056.5	37	c.4433T>A	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.355308	0.61293	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	.	.	.	5.92	3.6	0.41247	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	5.9237	0.19096	0.6659:0.1302:0.2039:0.0	.	.	.	.	X	1478;1478;1459	.	ENSP00000348349:L1478X	L	-	2	0	MYO9A	69977465	0.000000	0.05858	0.439000	0.26833	0.747000	0.42532	0.250000	0.18235	1.074000	0.40909	0.528000	0.53228	TTG		0.393	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		10	114	0	0	0	1	0	10	114				
TAPBPL	55080	broad.mit.edu	37	12	6567822	6567822	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:6567822G>A	ENST00000266556.7	+	5	1081	c.916G>A	c.(916-918)Gta>Ata	p.V306I	TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	306	Ig-like C1-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TTCCCCTAAAGTACGACTGAG	0.522																																						ENST00000266556.7																			0				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						c.(916-918)Gta>Ata		TAP binding protein-like							125.0	116.0	119.0					12																	6567822		2203	4300	6503	SO:0001583	missense	55080				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane		g.chr12:6567822G>A	AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.916G>A	12.37:g.6567822G>A	ENSP00000266556:p.Val306Ile					TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_3'UTR	p.V306I	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN			5	1081	+			306			Ig-like C1-type.		Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	c.916G>A	CCDS8546.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153382	0.38021	.	.	ENSG00000139192	ENST00000266556	T	0.16597	2.33	5.05	2.96	0.34315	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.253646	0.39083	N	0.001461	T	0.23410	0.0566	M	0.86268	2.805	0.28738	N	0.902134	B	0.10296	0.003	B	0.14578	0.011	T	0.16778	-1.0391	10	0.54805	T	0.06	-5.7708	8.5151	0.33242	0.2037:0.0:0.7963:0.0	.	306	Q9BX59	TPSNR_HUMAN	I	306	ENSP00000266556:V306I	ENSP00000266556:V306I	V	+	1	0	TAPBPL	6438083	0.982000	0.34865	0.972000	0.41901	0.717000	0.41224	0.843000	0.27640	0.487000	0.27698	0.650000	0.86243	GTA		0.522	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009		11	145	0	0	0	1	0	11	145				
FLT3	2322	broad.mit.edu	37	13	28609684	28609684	+	Silent	SNP	A	A	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr13:28609684A>G	ENST00000241453.7	-	12	1626	c.1545T>C	c.(1543-1545)tgT>tgC	p.C515C	FLT3_ENST00000380982.4_Silent_p.C515C|FLT3_ENST00000537084.1_Silent_p.C515C	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	515					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATTGTATGCACAGCACTTGA	0.438			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1543-1545)tgT>tgC		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						203.0	180.0	188.0					13																	28609684		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28609684A>G	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1545T>C	13.37:g.28609684A>G						FLT3_ENST00000241453.7_Silent_p.C515C|FLT3_ENST00000537084.1_Silent_p.C515C	p.C515C			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	12	1626	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	515					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.1545T>C	CCDS31953.1																																																																																				0.438	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			18	153	0	0	0	1	0	18	153				
LOXL4	84171	broad.mit.edu	37	10	100013489	100013489	+	Silent	SNP	C	C	T	rs376068066		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:100013489C>T	ENST00000260702.3	-	11	1806	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	552	Lysyl-oxidase like.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCTGGCTGAGCGGGCGGTCCT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17484	0.0		0.0	False		,,,				2504	0.001					ENST00000260702.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26						c.(1654-1656)ccG>ccA		lysyl oxidase-like 4		C		0,4406		0,0,2203	80.0	76.0	77.0		1656	-4.1	0.9	10		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	LOXL4	NM_032211.6		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		552/757	100013489	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84171					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	g.chr10:100013489C>T	AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1656G>A	10.37:g.100013489C>T						RP11-34A14.3_ENST00000433374.1_RNA	p.P552P	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)	11	1806	-		Colorectal(252;0.234)	552			Lysyl-oxidase like.		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Silent	SNP	ENST00000260702.3	37	c.1656G>A	CCDS7473.1																																																																																				0.627	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1	NM_032211		23	49	0	0	0	1	0	23	49				
C6orf10	10665	broad.mit.edu	37	6	32261116	32261116	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr6:32261116T>G	ENST00000447241.2	-	23	1506	c.1334A>C	c.(1333-1335)aAg>aCg	p.K445T	C6orf10_ENST00000527965.1_Missense_Mutation_p.K429T|C6orf10_ENST00000375015.4_Missense_Mutation_p.K444T|C6orf10_ENST00000442822.2_Missense_Mutation_p.K436T|C6orf10_ENST00000533191.1_Missense_Mutation_p.K443T|C6orf10_ENST00000375007.4_Missense_Mutation_p.K443T	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	445						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TGCCTCACTCTTCTTTTCTTG	0.458																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(1330-1332)aAg>aCg		chromosome 6 open reading frame 10							248.0	278.0	268.0					6																	32261116		1511	2707	4218	SO:0001583	missense	10665					integral to membrane		g.chr6:32261116T>G	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1334A>C	6.37:g.32261116T>G	ENSP00000415517:p.Lys445Thr					C6orf10_ENST00000442822.2_Missense_Mutation_p.K436T|C6orf10_ENST00000447241.2_Missense_Mutation_p.K445T|C6orf10_ENST00000527965.1_Missense_Mutation_p.K429T|C6orf10_ENST00000375007.4_Missense_Mutation_p.K443T|C6orf10_ENST00000533191.1_Missense_Mutation_p.K443T	p.K444T			Q5SRN2	CF010_HUMAN			26	1531	-			445					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Missense_Mutation	SNP	ENST00000447241.2	37	c.1331A>C	CCDS34422.1	.	.	.	.	.	.	.	.	.	.	T	14.29	2.490621	0.44249	.	.	ENSG00000204296	ENST00000442822;ENST00000447241;ENST00000375015;ENST00000533191;ENST00000527965;ENST00000375007;ENST00000375002;ENST00000305725	T;T;T;T;T;T	0.04194	3.76;3.7;3.71;3.68;3.71;3.7	3.92	-2.06	0.07298	.	.	.	.	.	T	0.05090	0.0136	M	0.67397	2.05	0.09310	N	1	B;D	0.89917	0.395;1.0	B;D	0.87578	0.047;0.998	T	0.20207	-1.0282	9	0.46703	T	0.11	-2.5319	0.8613	0.01194	0.1649:0.3006:0.1698:0.3647	.	445;436	Q5SRN2;C9J9T8	CF010_HUMAN;.	T	436;445;444;443;429;443;442;442	ENSP00000411164:K436T;ENSP00000415517:K445T;ENSP00000364155:K444T;ENSP00000431199:K443T;ENSP00000435103:K429T;ENSP00000364146:K443T	ENSP00000303292:K442T	K	-	2	0	C6orf10	32369094	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	0.064000	0.14437	-0.450000	0.07107	0.454000	0.30748	AAG		0.458	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		27	345	0	0	0	1	0	27	345				
ZNF490	57474	broad.mit.edu	37	19	12692359	12692359	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:12692359G>A	ENST00000311437.6	-	5	652	c.530C>T	c.(529-531)tCt>tTt	p.S177F	CTD-2192J16.20_ENST00000593682.1_5'Flank|ZNF490_ENST00000465656.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	177					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTCAGTGTGAGATCTCATGTG	0.443																																						ENST00000311437.6																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(529-531)tCt>tTt		zinc finger protein 490							218.0	177.0	191.0					19																	12692359		2203	4300	6503	SO:0001583	missense	57474				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12692359G>A	AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.530C>T	19.37:g.12692359G>A	ENSP00000311521:p.Ser177Phe						p.S177F	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN			5	652	-			177						Missense_Mutation	SNP	ENST00000311437.6	37	c.530C>T	CCDS12272.1	.	.	.	.	.	.	.	.	.	.	G	0.024	-1.394836	0.01175	.	.	ENSG00000188033	ENST00000311437;ENST00000440366	T;T	0.18338	2.22;4.71	0.996	-0.188	0.13264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18130	0.0435	L	0.31845	0.965	0.09310	N	1	D	0.54601	0.967	P	0.54856	0.762	T	0.13548	-1.0505	9	0.51188	T	0.08	.	3.8373	0.08899	0.1842:0.2595:0.5564:0.0	.	177	Q9ULM2	ZN490_HUMAN	F	177;124	ENSP00000311521:S177F;ENSP00000404112:S124F	ENSP00000311521:S177F	S	-	2	0	ZNF490	12553359	0.000000	0.05858	0.024000	0.17045	0.017000	0.09413	-0.060000	0.11712	-0.013000	0.14199	0.491000	0.48974	TCT		0.443	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344073.1	NM_020714		72	131	0	0	0	1	0	72	131				
DDIT3	1649	broad.mit.edu	37	12	57911132	57911132	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:57911132C>T	ENST00000346473.3	-	3	237	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	DDIT3_ENST00000552740.1_Missense_Mutation_p.A43T|DDIT3_ENST00000551116.1_Missense_Mutation_p.A43T|MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000547303.1_Missense_Mutation_p.A20T	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	20	N-terminal.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TCATACCAGGCTTCCAGCTCC	0.493			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)	ENST00000551116.1				Dom	yes		12	12q13.1-q13.2	1649	T	DNA-damage-inducible transcript 3			M	FUS		liposarcoma	EWSR1/DDIT3(45)|FUS/DDIT3(631)	0				central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						c.(127-129)Gcc>Acc		DNA-damage-inducible transcript 3							64.0	58.0	60.0					12																	57911132		2203	4300	6503	SO:0001583	missense	1649				cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	g.chr12:57911132C>T	BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"""C/EBP zeta"""	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.58G>A	12.37:g.57911132C>T	ENSP00000340671:p.Ala20Thr					DDIT3_ENST00000552740.1_Missense_Mutation_p.A43T|DDIT3_ENST00000547303.1_Missense_Mutation_p.A20T|DDIT3_ENST00000346473.3_Missense_Mutation_p.A20T	p.A43T	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN			3	394	-			20					F8VS99	Missense_Mutation	SNP	ENST00000346473.3	37	c.127G>A	CCDS8943.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570252	0.65765	.	.	ENSG00000175197	ENST00000547303;ENST00000551116;ENST00000346473;ENST00000552740;ENST00000547526	T;T;T;T	0.55234	0.61;0.53;0.61;0.53	5.01	5.01	0.66863	.	0.120501	0.53938	D	0.000049	T	0.58119	0.2100	L	0.32530	0.975	0.38163	D	0.939105	D;P	0.76494	0.999;0.941	D;P	0.65323	0.934;0.527	T	0.62760	-0.6786	10	0.72032	D	0.01	-12.9575	11.1156	0.48258	0.2844:0.7156:0.0:0.0	.	43;20	F8VS99;P35638	.;DDIT3_HUMAN	T	20;43;20;43;43	ENSP00000447188:A20T;ENSP00000448665:A43T;ENSP00000340671:A20T;ENSP00000447803:A43T	ENSP00000340671:A20T	A	-	1	0	DDIT3	56197399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.038000	0.49783	2.776000	0.95493	0.655000	0.94253	GCC		0.493	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083		22	39	0	0	0	1	0	22	39				
ZNF271	10778	broad.mit.edu	37	18	32887852	32887852	+	RNA	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr18:32887852G>A	ENST00000399070.3	+	0	2246					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						GAATGCTGTTGATTATTGATG	0.373																																						ENST00000399070.3																			0				large_intestine(3)|lung(9)	12															48.0	47.0	47.0					18																	32887852		2203	4300	6503			0							g.chr18:32887852G>A	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32887852G>A								NR_024565.1|NR_024566.1						0	2246	+								B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	ENST00000399070.3	37																																																																																						0.373	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565		15	31	0	0	0	1	0	15	31				
ATP6AP1L	92270	broad.mit.edu	37	5	81608458	81608458	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:81608458T>G	ENST00000380167.4	+	9	1485	c.160T>G	c.(160-162)Tcc>Gcc	p.S54A	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.S54A			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	54					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CAACAAGTTGTCCATCCAGAG	0.413											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380167.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						c.(160-162)Tcc>Gcc		ATPase, H+ transporting, lysosomal accessory protein 1-like							178.0	173.0	175.0					5																	81608458		2203	4300	6503	SO:0001583	missense	92270				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr5:81608458T>G	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.160T>G	5.37:g.81608458T>G	ENSP00000369513:p.Ser54Ala		OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1207	ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.S54A	p.S54A			Q52LC2	VAS1L_HUMAN			9	1485	+			54						Missense_Mutation	SNP	ENST00000380167.4	37	c.160T>G	CCDS34196.1	.	.	.	.	.	.	.	.	.	.	T	7.732	0.699430	0.15106	.	.	ENSG00000205464	ENST00000380167;ENST00000439350	.	.	.	5.58	-1.29	0.09288	.	0.517808	0.20520	N	0.090713	T	0.40619	0.1124	M	0.70903	2.155	0.23396	N	0.997761	B	0.17268	0.021	B	0.20184	0.028	T	0.37384	-0.9708	9	0.51188	T	0.08	.	5.8611	0.18747	0.0:0.1962:0.2255:0.5783	.	54	Q52LC2	VAS1L_HUMAN	A	54	.	ENSP00000369513:S54A	S	+	1	0	ATP6AP1L	81644214	0.997000	0.39634	0.020000	0.16555	0.038000	0.13279	0.589000	0.23939	-0.196000	0.10366	-0.290000	0.09829	TCC		0.413	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971		17	213	0	0	0	1	0	17	213				
TENM2	57451	broad.mit.edu	37	5	167674102	167674102	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:167674102A>G	ENST00000518659.1	+	27	6197	c.6158A>G	c.(6157-6159)aAc>aGc	p.N2053S	TENM2_ENST00000520394.1_Missense_Mutation_p.N1814S|TENM2_ENST00000519204.1_Missense_Mutation_p.N1932S|TENM2_ENST00000545108.1_Missense_Mutation_p.N2052S|TENM2_ENST00000403607.2_Missense_Mutation_p.N1877S	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2053					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AAGATGGTCAACCTCCAAAGT	0.522																																						ENST00000519204.1																			0											c.(5794-5796)aAc>aGc		teneurin transmembrane protein 2							80.0	79.0	80.0					5																	167674102		1943	4144	6087	SO:0001583	missense	57451							g.chr5:167674102A>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6158A>G	5.37:g.167674102A>G	ENSP00000429430:p.Asn2053Ser					TENM2_ENST00000518659.1_Missense_Mutation_p.N2053S|TENM2_ENST00000545108.1_Missense_Mutation_p.N2052S|TENM2_ENST00000520394.1_Missense_Mutation_p.N1814S|TENM2_ENST00000403607.2_Missense_Mutation_p.N1877S	p.N1932S							26	5913	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.5795A>G		.	.	.	.	.	.	.	.	.	.	A	16.01	3.002530	0.54254	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89270	-2.02;-2.01;-2.12;-2.45;-2.49	5.44	3.02	0.34903	.	0.039655	0.85682	N	0.000000	D	0.92688	0.7676	M	0.80028	2.48	0.40758	D	0.982977	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.91635	0.999;0.997;0.979	D	0.89580	0.3820	10	0.18276	T	0.48	.	9.4562	0.38756	0.8602:0.0:0.1398:0.0	.	2052;2053;1814	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	S	2053;2052;1932;1814;1877	ENSP00000429430:N2053S;ENSP00000438635:N2052S;ENSP00000428964:N1932S;ENSP00000427874:N1814S;ENSP00000384905:N1877S	ENSP00000384905:N1877S	N	+	2	0	ODZ2	167606680	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	3.846000	0.55888	0.360000	0.24265	0.459000	0.35465	AAC		0.522	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		61	119	0	0	0	1	0	61	119				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		5	44	0	0	0	1	0	5	44				
ATF7IP	55729	broad.mit.edu	37	12	14634097	14634097	+	Silent	SNP	T	T	C			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:14634097T>C	ENST00000540793.1	+	12	3413	c.3258T>C	c.(3256-3258)gtT>gtC	p.V1086V	ATF7IP_ENST00000543189.1_Silent_p.V1085V|ATF7IP_ENST00000261168.4_Silent_p.V1086V|ATF7IP_ENST00000544627.1_Silent_p.V1094V|ATF7IP_ENST00000536444.1_Silent_p.V1085V			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1086					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTCCTGCTGTTCGGCAGGTCA	0.453																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(3280-3282)gtT>gtC		activating transcription factor 7 interacting protein							63.0	62.0	63.0					12																	14634097		2203	4300	6503	SO:0001819	synonymous_variant	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14634097T>C	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.3258T>C	12.37:g.14634097T>C						ATF7IP_ENST00000540793.1_Silent_p.V1086V|ATF7IP_ENST00000536444.1_Silent_p.V1085V|ATF7IP_ENST00000543189.1_Silent_p.V1085V|ATF7IP_ENST00000261168.4_Silent_p.V1086V	p.V1094V			Q6VMQ6	MCAF1_HUMAN			13	3602	+			1086					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Silent	SNP	ENST00000540793.1	37	c.3282T>C	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306275	0.23736	.	.	ENSG00000171681	ENST00000535738	.	.	.	5.43	-1.77	0.07982	.	.	.	.	.	T	0.37128	0.0992	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33085	-0.9882	4	.	.	.	-12.2358	0.0975	0.00045	0.2825:0.1706:0.2164:0.3305	.	.	.	.	P	100	.	.	S	+	1	0	ATF7IP	14525364	0.961000	0.32948	0.996000	0.52242	0.981000	0.71138	-0.133000	0.10451	0.045000	0.15804	0.528000	0.53228	TCG		0.453	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		7	132	0	0	0	1	0	7	132				
THEMIS2	9473	broad.mit.edu	37	1	28209255	28209255	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:28209255G>A	ENST00000373921.3	+	4	1424	c.1420G>A	c.(1420-1422)Ggc>Agc	p.G474S	THEMIS2_ENST00000328928.7_Missense_Mutation_p.G345S|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	474	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTCCTTCCTGGGCCTGCGGCT	0.602																																						ENST00000373921.3																			0											c.(1420-1422)Ggc>Agc		thymocyte selection associated family member 2							69.0	70.0	69.0					1																	28209255		2064	4206	6270	SO:0001583	missense	9473							g.chr1:28209255G>A	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1420G>A	1.37:g.28209255G>A	ENSP00000363031:p.Gly474Ser					THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.G345S	p.G474S	NM_001105556.1	NP_001099026.1					4	1424	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.1420G>A	CCDS41290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.09|11.09	1.536510|1.536510	0.27475|0.27475	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000328928;ENST00000373921|ENST00000456990	T;T|.	0.13538|.	2.58;2.58|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.280340|.	0.38778|.	N|.	0.001563|.	T|.	0.53850|.	0.1822|.	L|L	0.58669|0.58669	1.825|1.825	0.20403|0.20403	N|N	0.99991|0.99991	P;D;P|.	0.89917|.	0.649;1.0;0.63|.	B;D;B|.	0.83275|.	0.256;0.996;0.403|.	T|.	0.47812|.	-0.9088|.	10|.	0.41790|.	T|.	0.15|.	-23.9582|-23.9582	12.448|12.448	0.55662|0.55662	0.0:0.0:0.7225:0.2775|0.0:0.0:0.7225:0.2775	.|.	345;278;474|.	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8|.	.;.;THMS2_HUMAN|.	S|X	345;474|221	ENSP00000329862:G345S;ENSP00000363031:G474S|.	ENSP00000329862:G345S|.	G|W	+|+	1|3	0|0	C1orf38|C1orf38	28081842|28081842	0.262000|0.262000	0.24073|0.24073	0.952000|0.952000	0.39060|0.39060	0.090000|0.090000	0.18270|0.18270	1.176000|1.176000	0.31957|0.31957	2.489000|2.489000	0.83994|0.83994	0.555000|0.555000	0.69702|0.69702	GGC|TGG		0.602	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		6	84	0	0	0	1	0	6	84				
DNAH5	1767	broad.mit.edu	37	5	13919350	13919350	+	Silent	SNP	A	A	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:13919350A>G	ENST00000265104.4	-	7	1014	c.910T>C	c.(910-912)Ttg>Ctg	p.L304L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	304	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGCTTTTCAATTGTTCCAAA	0.507									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(910-912)Ttg>Ctg		dynein, axonemal, heavy chain 5							127.0	138.0	135.0					5																	13919350		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919350A>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.910T>C	5.37:g.13919350A>G							p.L304L	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			7	1014	-	Lung NSC(4;0.00476)		304			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.910T>C	CCDS3882.1																																																																																				0.507	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		28	218	0	0	0	1	0	28	218				
GBGT1	26301	broad.mit.edu	37	9	136029281	136029281	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:136029281G>A	ENST00000372040.3	-	7	1038	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	GBGT1_ENST00000372043.3_Silent_p.S236S|GBGT1_ENST00000472281.1_5'UTR|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Missense_Mutation_p.R226C	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1	243					glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACACGCCTGCGCTCATAGGGG	0.602																																						ENST00000372040.3																			0				breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10						c.(727-729)Cgc>Tgc		globoside alpha-1,3-N-acetylgalactosaminyltransferase 1							79.0	80.0	80.0					9																	136029281		2203	4300	6503	SO:0001583	missense	26301							g.chr9:136029281G>A	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.727C>T	9.37:g.136029281G>A	ENSP00000361110:p.Arg243Cys					GBGT1_ENST00000372043.3_Silent_p.S236S|GBGT1_ENST00000472281.1_5'UTR|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000540636.1_Missense_Mutation_p.R226C	p.R243C						OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)	7	1038	-								A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	Missense_Mutation	SNP	ENST00000372040.3	37	c.727C>T	CCDS6960.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469318	0.63625	.	.	ENSG00000148288	ENST00000372040;ENST00000540636	T;T	0.02421	4.3;4.3	5.25	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.19644	0.0472	M	0.92604	3.325	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.07158	-1.0787	10	0.87932	D	0	-12.131	13.9166	0.63902	0.0:0.0:0.779:0.221	.	226;243	B7Z8S5;Q8N5D6	.;GBGT1_HUMAN	C	243;226	ENSP00000361110:R243C;ENSP00000437663:R226C	ENSP00000361110:R243C	R	-	1	0	GBGT1	135019102	0.311000	0.24536	0.999000	0.59377	0.880000	0.50808	1.623000	0.37008	2.451000	0.82905	0.561000	0.74099	CGC		0.602	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054815.1	NM_021996		44	97	0	0	0	1	0	44	97				
SMARCA4	6597	broad.mit.edu	37	19	11135091	11135091	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:11135091G>T	ENST00000429416.3	+	22	3339	c.3058G>T	c.(3058-3060)Gat>Tat	p.D1020Y	SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000358026.2_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1020Y	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1020					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCTGACTGATGGCTCCGA	0.627			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3058-3060)Gat>Tat		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							73.0	59.0	64.0					19																	11135091		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11135091G>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3058G>T	19.37:g.11135091G>T	ENSP00000395654:p.Asp1020Tyr					SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1020Y	p.D1020Y	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			21	3342	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1020					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3058G>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884577	0.72410	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	4.76	4.76	0.60689	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.89157	0.6635	M	0.74647	2.275	0.58432	D	0.999999	D;D;D;P;D;P;D;D	0.89917	0.999;0.997;1.0;0.944;0.999;0.537;1.0;1.0	D;D;D;D;D;P;D;D	0.77004	0.989;0.981;0.986;0.918;0.989;0.722;0.989;0.989	D	0.90510	0.4480	10	0.87932	D	0	-36.5944	16.6873	0.85312	0.0:0.0:1.0:0.0	.	1020;1020;1020;1020;1020;240;1020;1020	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	Y	1020;1020;1084;1020;1020;1020;1020;1020	ENSP00000395654:D1020Y;ENSP00000350720:D1020Y;ENSP00000343896:D1020Y;ENSP00000445036:D1020Y;ENSP00000392837:D1020Y;ENSP00000397783:D1020Y;ENSP00000414727:D1020Y	ENSP00000343896:D1020Y	D	+	1	0	SMARCA4	10996091	1.000000	0.71417	0.933000	0.37362	0.503000	0.33858	9.411000	0.97342	2.468000	0.83385	0.655000	0.94253	GAT		0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		18	33	1	0	9.16793e-09	1	9.42987e-09	18	33				
ZNF681	148213	broad.mit.edu	37	19	23927189	23927189	+	Missense_Mutation	SNP	T	T	C	rs145416258	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:23927189T>C	ENST00000402377.3	-	4	1304	c.1163A>G	c.(1162-1164)cAt>cGt	p.H388R	ZNF681_ENST00000395385.3_Missense_Mutation_p.H319R	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTCTCCAGTATGAATTATCTT	0.398																																						ENST00000402377.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21						c.(1162-1164)cAt>cGt		zinc finger protein 681							65.0	71.0	69.0					19																	23927189		2201	4300	6501	SO:0001583	missense	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927189T>C	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1163A>G	19.37:g.23927189T>C	ENSP00000384000:p.His388Arg					ZNF681_ENST00000395385.3_Missense_Mutation_p.H319R	p.H388R	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN			4	1304	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	388					B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	37	c.1163A>G	CCDS12414.2	.	.	.	.	.	.	.	.	.	.	.	11.45	1.642813	0.29246	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.67523	-0.27;-0.27	1.51	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.77778	0.4181	M	0.76838	2.35	0.33311	D	0.566147	D	0.89917	1.0	D	0.79784	0.993	T	0.79584	-0.1743	9	0.87932	D	0	.	6.6698	0.23062	0.0:0.0:0.0:1.0	.	388	Q96N22	ZN681_HUMAN	R	388;319	ENSP00000384000:H388R;ENSP00000378783:H319R	ENSP00000378783:H319R	H	-	2	0	ZNF681	23719029	1.000000	0.71417	0.114000	0.21550	0.315000	0.28087	3.827000	0.55745	0.663000	0.31027	0.260000	0.18958	CAT		0.398	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286		30	56	0	0	0	1	0	30	56				
PALB2	79728	broad.mit.edu	37	16	23646265	23646265	+	Silent	SNP	A	A	G			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr16:23646265A>G	ENST00000261584.4	-	4	1754	c.1602T>C	c.(1600-1602)tcT>tcC	p.S534S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	534	DNA-binding (with the preference D loop > dsDNA > ssDNA).				DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|inner cell mass cell proliferation (GO:0001833)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|post-anal tail morphogenesis (GO:0036342)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCGACAGGCTAGAAGTTGGCA	0.418			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000261584.4			yes	Rec		"""Fanconi anaemia N, breast cancer susceptibility """	16	16p12.1	79728	"""F, N, Mis"""	partner and localizer of BRCA2			"""L, O, E"""		"""Wilms tumor, medulloblastoma, AML ,breast"""			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(1600-1602)tcT>tcC	Involved in tolerance or repair of DNA crosslinks	partner and localizer of BRCA2							144.0	134.0	137.0					16																	23646265		2197	4300	6497	SO:0001819	synonymous_variant	79728				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding	g.chr16:23646265A>G		CCDS32406.1	16p12.1	2014-09-17				ENSG00000083093		"""Fanconi anemia, complementation groups"""	26144	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group N"""	610355				16793542, 17200672	Standard	NM_024675		Approved	FLJ21816, FANCN	uc002dlx.1	Q86YC2		ENST00000261584.4:c.1602T>C	16.37:g.23646265A>G							p.S534S	NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN		GBM - Glioblastoma multiforme(48;0.0167)	4	1754	-			534					A6NIE1|Q8N7Y6|Q8ND31|Q9H6W1	Silent	SNP	ENST00000261584.4	37	c.1602T>C	CCDS32406.1																																																																																				0.418	PALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435287.2	NM_024675		5	127	0	0	0	1	0	5	127				
ADK	132	broad.mit.edu	37	10	76360239	76360239	+	Missense_Mutation	SNP	A	A	G	rs541758866		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:76360239A>G	ENST00000286621.2	+	9	915	c.865A>G	c.(865-867)Ata>Gta	p.I289V	ADK_ENST00000539909.1_Missense_Mutation_p.I232V|ADK_ENST00000541550.1_Missense_Mutation_p.I254V|ADK_ENST00000372734.3_Missense_Mutation_p.I272V	NM_006721.3	NP_006712.2	P55263	ADK_HUMAN	adenosine kinase	289				I -> N (in Ref. 1; AA sequence). {ECO:0000305}.	adenosine metabolic process (GO:0046085)|AMP salvage (GO:0044209)|circadian regulation of gene expression (GO:0032922)|dATP biosynthetic process (GO:0006175)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of T cell proliferation (GO:0042102)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenosine kinase activity (GO:0004001)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Abacavir(DB01048)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Ribavirin(DB00811)	AGATGACACTATAATGGCTAC	0.348													A|||	1	0.000199681	0.0008	0.0	5008	,	,		10929	0.0		0.0	False		,,,				2504	0.0					ENST00000372734.3																			0				breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(814-816)Ata>Gta		adenosine kinase	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)						70.0	58.0	62.0					10																	76360239		2203	4300	6503	SO:0001583	missense	132				purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor	g.chr10:76360239A>G	U50196	CCDS7343.1, CCDS7344.1, CCDS55716.1, CCDS55717.1	10q22.2	2006-02-21			ENSG00000156110	ENSG00000156110	2.7.1.20		257	protein-coding gene	gene with protein product	"""adenosine 5'-phosphotransferase"""	102750				8577746	Standard	NM_001123		Approved	AK	uc001jwi.3	P55263	OTTHUMG00000018506	ENST00000286621.2:c.865A>G	10.37:g.76360239A>G	ENSP00000286621:p.Ile289Val					ADK_ENST00000286621.2_Missense_Mutation_p.I289V|ADK_ENST00000539909.1_Missense_Mutation_p.I232V|ADK_ENST00000541550.1_Missense_Mutation_p.I254V	p.I272V	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN			9	1001	+	Prostate(51;0.0112)|Ovarian(15;0.148)		289					B7Z783|B7Z800|O00741|O00742|Q16710|Q5JQ10|Q5JQ11|Q9BTN2	Missense_Mutation	SNP	ENST00000286621.2	37	c.814A>G	CCDS7343.1	.	.	.	.	.	.	.	.	.	.	A	0.962	-0.702964	0.03255	.	.	ENSG00000156110	ENST00000539909;ENST00000286621;ENST00000372734;ENST00000541550	D;T;T;T	0.88046	-2.33;-1.06;-1.06;-1.06	5.48	1.98	0.26296	Carbohydrate/purine kinase (1);	0.285757	0.38778	N	0.001561	T	0.71341	0.3328	N	0.16833	0.445	0.34041	D	0.655018	B;B;B;B	0.10296	0.001;0.003;0.0;0.0	B;B;B;B	0.11329	0.003;0.006;0.003;0.004	T	0.62120	-0.6921	10	0.06365	T	0.9	-6.3834	8.6521	0.34040	0.6935:0.0:0.3065:0.0	.	254;232;272;289	B7Z800;B7Z783;Q5JQ10;P55263	.;.;.;ADK_HUMAN	V	232;289;272;254	ENSP00000443965:I232V;ENSP00000286621:I289V;ENSP00000361819:I272V;ENSP00000438321:I254V	ENSP00000286621:I289V	I	+	1	0	ADK	76030245	0.412000	0.25392	0.481000	0.27354	0.992000	0.81027	0.894000	0.28350	0.392000	0.25172	0.460000	0.39030	ATA		0.348	ADK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048763.1	NM_001123, NM_006721		7	33	0	0	0	1	0	7	33				
RP11-24M17.5	0	broad.mit.edu	37	15	76075437	76075437	+	RNA	SNP	G	G	A	rs62028907	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:76075437G>A	ENST00000395215.3	+	0	1077				RN7SL319P_ENST00000480656.2_RNA																							AAGACGCTACGGGAGCAGGGT	0.607													.|||	559	0.111621	0.0371	0.1412	5008	,	,		16943	0.0952		0.2256	False		,,,				2504	0.091					ENST00000395215.3																			0																																																			0							g.chr15:76075437G>A																													15.37:g.76075437G>A														0	1077	+									RNA	SNP	ENST00000395215.3	37																																																																																						0.607	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			8	310	0	0	0	1	0	8	310				
KTI12	112970	broad.mit.edu	37	1	52498859	52498865	+	Frame_Shift_Del	DEL	GAATCCG	GAATCCG	-	rs2783175	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:52498859_52498865delGAATCCG	ENST00000371614.1	-	1	623_629	c.569_575delCGGATTC	c.(568-576)ccggattcafs	p.PDS190fs	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	190							ATP binding (GO:0005524)	p.D191E(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						AGATTTCTCTGAATCCGGAGTCACAAG	0.575																																						ENST00000371614.1																			1	Substitution - Missense(1)	p.D191E(1)	stomach(1)	central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						c.(568-576)cafs		KTI12 homolog, chromatin associated (S. cerevisiae)																																				SO:0001589	frameshift_variant	112970						ATP binding	g.chr1:52498859_52498865delGAATCCG		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.569_575delCGGATTC	1.37:g.52498859_52498865delGAATCCG	ENSP00000360676:p.Pro190fs					TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron	p.PDS190fs	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN			1	623_629	-			190						Frame_Shift_Del	DEL	ENST00000371614.1	37	c.569_575delCGGATTC	CCDS562.1																																																																																				0.575	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1	NM_138417		11	97						11	97	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235345238	235345244	+	Frame_Shift_Del	DEL	TCTTCAA	TCTTCAA	-			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:235345238_235345244delTCTTCAA	ENST00000264183.3	-	20	3487_3493	c.2990_2996delTTGAAGA	c.(2989-2997)attgaagaafs	p.IEE997fs	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.IEE997fs|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.IEE911fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	997					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TACTGTTTTTTCTTCAATGGGTTTACT	0.444																																						ENST00000264183.3																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2989-2997)aafs		AT rich interactive domain 4B (RBP1-like)																																				SO:0001589	frameshift_variant	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345238_235345244delTCTTCAA	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2990_2996delTTGAAGA	1.37:g.235345238_235345244delTCTTCAA	ENSP00000264183:p.Ile997fs					ARID4B_ENST00000349213.3_Frame_Shift_Del_p.IEE911fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.IEE997fs	p.IEE997fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3487_3493	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	997					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	ENST00000264183.3	37	c.2990_2996delTTGAAGA	CCDS31061.1																																																																																				0.444	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		53	84						53	84	---	---	---	---
GS1-124K5.2	0	broad.mit.edu	37	7	65888988	65888988	+	RNA	DEL	T	T	-			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr7:65888988delT	ENST00000442578.1	-	0	826																											tttttttttcttttttttttt	0.488																																						ENST00000442578.1																			0																																																			0							g.chr7:65888988delT																													7.37:g.65888988delT														0	826	-									RNA	DEL	ENST00000442578.1	37																																																																																						0.488	GS1-124K5.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	pseudogene	OTTHUMT00000344730.1			3	6						3	6	---	---	---	---
SYNE3	161176	broad.mit.edu	37	14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr14:95921888_95921890delCTC	ENST00000334258.5	-	5	975_977	c.961_963delGAG	c.(961-963)gagdel	p.E321del	SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	321					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CCCGCAGCCGCTCCTCCTCCTCC	0.616																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(961-963)del		spectrin repeat containing, nuclear envelope family member 3																																				SO:0001651	inframe_deletion	161176							g.chr14:95921888_95921890delCTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.961_963delGAG	14.37:g.95921897_95921899delCTC	ENSP00000334308:p.Glu321del					SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del	p.E321del	NM_152592.3	NP_689805.3					5	975_977	-								A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.961_963delGAG	CCDS9935.1																																																																																				0.616	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		7	238						7	238	---	---	---	---
