#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
AK7	122481	broad.mit.edu	37	14	96909069	96909069	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr14:96909069G>A	ENST00000267584.4	+	7	737	c.693G>A	c.(691-693)atG>atA	p.M231I		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	231					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.M231I(2)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTTTCAGATGGCTTGGTTGG	0.443																																						ENST00000267584.4																			2	Substitution - Missense(2)	p.M231I(2)	prostate(2)	breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(691-693)atG>atA		adenylate kinase 7							291.0	259.0	270.0					14																	96909069		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96909069G>A	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.693G>A	14.37:g.96909069G>A	ENSP00000267584:p.Met231Ile						p.M231I	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	7	737	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	231					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.693G>A	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556450	0.27827	.	.	ENSG00000140057	ENST00000267584	T	0.41065	1.01	4.77	-9.53	0.00575	NAD(P)-binding domain (1);	1.208460	0.05553	N	0.567814	T	0.19087	0.0458	N	0.20685	0.6	0.58432	D	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.06144	-1.0843	10	0.34782	T	0.22	-0.1402	1.3867	0.02242	0.4123:0.2675:0.1404:0.1798	.	231	Q96M32	KAD7_HUMAN	I	231	ENSP00000267584:M231I	ENSP00000267584:M231I	M	+	3	0	AK7	95978822	0.000000	0.05858	0.000000	0.03702	0.703000	0.40648	-2.759000	0.00787	-2.445000	0.00547	0.655000	0.94253	ATG		0.443	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1			13	402	0	0	0	1	0	13	402				
RGS7	6000	broad.mit.edu	37	1	240977013	240977013	+	Silent	SNP	C	C	A			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr1:240977013C>A	ENST00000407727.1	-	12	860	c.861G>T	c.(859-861)acG>acT	p.T287T	RGS7_ENST00000401882.1_Silent_p.T234T|RGS7_ENST00000366564.1_Silent_p.T287T|RGS7_ENST00000366563.1_Silent_p.T287T|RGS7_ENST00000331110.7_Silent_p.T261T|RGS7_ENST00000366565.1_Silent_p.T287T|RGS7_ENST00000348120.2_Silent_p.T234T|RGS7_ENST00000446183.2_Silent_p.T203T|RGS7_ENST00000366562.4_Silent_p.T287T			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	287	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.T287T(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AATACTGTTCCGTGTAACTTA	0.433																																						ENST00000366565.1																			2	Substitution - coding silent(2)	p.T287T(2)	prostate(2)	breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(859-861)acG>acT		regulator of G-protein signaling 7							101.0	97.0	98.0					1																	240977013		2203	4300	6503	SO:0001819	synonymous_variant	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:240977013C>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.861G>T	1.37:g.240977013C>A						RGS7_ENST00000366563.1_Silent_p.T287T|RGS7_ENST00000348120.2_Silent_p.T234T|RGS7_ENST00000366564.1_Silent_p.T287T|RGS7_ENST00000366562.4_Silent_p.T287T|RGS7_ENST00000407727.1_Silent_p.T287T|RGS7_ENST00000446183.2_Silent_p.T203T|RGS7_ENST00000401882.1_Silent_p.T234T|RGS7_ENST00000331110.7_Silent_p.T261T	p.T287T	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		13	1242	-		all_cancers(173;0.0131)	287			G protein gamma.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Silent	SNP	ENST00000407727.1	37	c.861G>T																																																																																					0.433	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		8	89	1	0	0.00448238	1	0.00481856	8	89				
TNXB	7148	broad.mit.edu	37	6	32037587	32037587	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr6:32037587C>T	ENST00000375244.3	-	15	5531	c.5330G>A	c.(5329-5331)cGt>cAt	p.R1777H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1777H			P22105	TENX_HUMAN	tenascin XB	1859	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.R1864H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCCCCAGACGGGGTTTTGG	0.582																																						ENST00000375244.3																			1	Substitution - Missense(1)	p.R1864H(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5329-5331)cGt>cAt		tenascin XB							26.0	28.0	27.0					6																	32037587		1933	4136	6069	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32037587C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5330G>A	6.37:g.32037587C>T	ENSP00000364393:p.Arg1777His					TNXB_ENST00000375247.2_Missense_Mutation_p.R1777H	p.R1777H			P22105	TENX_HUMAN			15	5531	-			1859			Fibronectin type-III 10.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5330G>A		.	.	.	.	.	.	.	.	.	.	C	18.39	3.613912	0.66672	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57436	0.57;0.4	5.37	2.63	0.31362	.	0.775780	0.11180	N	0.591100	T	0.34366	0.0895	M	0.85710	2.77	0.09310	N	1	P	0.35821	0.523	B	0.32149	0.141	T	0.31052	-0.9957	10	0.48119	T	0.1	.	7.5404	0.27735	0.0:0.6572:0.0:0.3428	.	1777	P22105-3	.	H	1777	ENSP00000364393:R1777H;ENSP00000364396:R1777H	ENSP00000364393:R1777H	R	-	2	0	TNXB	32145565	0.000000	0.05858	0.096000	0.21009	0.988000	0.76386	-0.167000	0.09940	0.265000	0.21872	0.491000	0.48974	CGT		0.582	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		3	42	0	0	0	1	0	3	42				
AIFM3	150209	broad.mit.edu	37	22	21322168	21322168	+	5'UTR	SNP	G	G	A	rs528647446		TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr22:21322168G>A	ENST00000399167.2	+	0	176				AIFM3_ENST00000333607.6_5'UTR|AIFM3_ENST00000399163.2_5'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.A4T|AIFM3_ENST00000405089.1_5'UTR|AIFM3_ENST00000440238.2_5'UTR	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3						cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CATGGGGGGCGCCCTAGGCCT	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		11108	0.001		0.0	False		,,,				2504	0.0					ENST00000335375.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21						c.(10-12)Gcc>Acc		apoptosis-inducing factor, mitochondrion-associated, 3							102.0	103.0	103.0					22																	21322168		692	1591	2283	SO:0001623	5_prime_UTR_variant	150209							g.chr22:21322168G>A	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.-65G>A	22.37:g.21322168G>A						AIFM3_ENST00000399167.2_5'UTR|AIFM3_ENST00000405089.1_5'UTR|AIFM3_ENST00000333607.6_5'UTR|AIFM3_ENST00000399163.2_5'UTR|AIFM3_ENST00000440238.2_5'UTR	p.A4T					LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	117	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)						B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.10G>A	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235246	0.58886	.	.	ENSG00000183773	ENST00000335375	T	0.56103	0.48	3.5	-2.63	0.06133	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.19775	N	0.999958	B	0.02656	0.0	B	0.01281	0.0	T	0.35151	-0.9800	8	0.87932	D	0	.	9.0941	0.36629	0.4252:0.0:0.5748:0.0	.	4	B7Z9S7	.	T	4	ENSP00000335369:A4T	ENSP00000335369:A4T	A	+	1	0	AIFM3	19652168	0.407000	0.25352	0.001000	0.08648	0.544000	0.35116	-0.258000	0.08733	-0.654000	0.05394	-0.497000	0.04613	GCC		0.672	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704		7	47	0	0	0	1	0	7	47				
UBTF	7343	broad.mit.edu	37	17	42293143	42293143	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:42293143G>A	ENST00000302904.4	-	5	845	c.353C>T	c.(352-354)cCt>cTt	p.P118L	UBTF_ENST00000436088.1_Missense_Mutation_p.P118L|UBTF_ENST00000343638.5_Missense_Mutation_p.P118L|UBTF_ENST00000533177.1_Missense_Mutation_p.P118L|UBTF_ENST00000393606.3_Missense_Mutation_p.P118L|UBTF_ENST00000527034.1_Missense_Mutation_p.P118L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.P118L|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000529383.1_Missense_Mutation_p.P118L			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	118					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P118L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCGGAAATAAGGGGTCAGGGG	0.488																																						ENST00000302904.4																			1	Substitution - Missense(1)	p.P118L(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(352-354)cCt>cTt		upstream binding transcription factor, RNA polymerase I							92.0	98.0	96.0					17																	42293143		2203	4300	6503	SO:0001583	missense	7343				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	g.chr17:42293143G>A	BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.353C>T	17.37:g.42293143G>A	ENSP00000302640:p.Pro118Leu					UBTF_ENST00000393606.3_Missense_Mutation_p.P118L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_Missense_Mutation_p.P118L|UBTF_ENST00000343638.5_Missense_Mutation_p.P118L|UBTF_ENST00000529383.1_Missense_Mutation_p.P118L|UBTF_ENST00000527034.1_Missense_Mutation_p.P118L|UBTF_ENST00000526094.1_Missense_Mutation_p.P118L|UBTF_ENST00000436088.1_Missense_Mutation_p.P118L	p.P118L			P17480	UBF1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	5	845	-		Breast(137;0.00765)|Prostate(33;0.0181)	118					A8K6R8	Missense_Mutation	SNP	ENST00000302904.4	37	c.353C>T	CCDS11480.1	.	.	.	.	.	.	.	.	.	.	g	29.5	5.008009	0.93287	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000530828	D;D;D;D;D;D;D;D;D	0.97811	-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55;-4.55	4.4	4.4	0.53042	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.060308	0.64402	D	0.000002	D	0.98836	0.9607	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.988;1.0	D	0.99659	1.0993	10	0.62326	D	0.03	-6.5804	16.9462	0.86230	0.0:0.0:1.0:0.0	.	118;118;118	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	L	118;118;118;118;118;118;118;118;90	ENSP00000345297:P118L;ENSP00000302640:P118L;ENSP00000431539:P118L;ENSP00000437180:P118L;ENSP00000390669:P118L;ENSP00000377231:P118L;ENSP00000432925:P118L;ENSP00000435708:P118L;ENSP00000433046:P90L	ENSP00000302640:P118L	P	-	2	0	UBTF	39648669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.730000	0.98797	2.147000	0.66899	0.563000	0.77884	CCT		0.488	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395205.1	NM_014233		7	162	0	0	0	1	0	7	162				
GRIA4	2893	broad.mit.edu	37	11	105774694	105774694	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:105774694G>A	ENST00000530497.1	+	7	1040	c.1040G>A	c.(1039-1041)aGg>aAg	p.R347K	GRIA4_ENST00000393125.2_Missense_Mutation_p.R347K|GRIA4_ENST00000393127.2_Missense_Mutation_p.R347K|GRIA4_ENST00000525187.1_Missense_Mutation_p.R347K|GRIA4_ENST00000428631.2_Missense_Mutation_p.R347K|GRIA4_ENST00000282499.5_Missense_Mutation_p.R347K			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	347					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GACATGGAGAGGACACTCAAA	0.398																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(1039-1041)aGg>aAg		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						83.0	89.0	87.0					11																	105774694		2202	4299	6501	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105774694G>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1040G>A	11.37:g.105774694G>A	ENSP00000435775:p.Arg347Lys					GRIA4_ENST00000428631.2_Missense_Mutation_p.R347K|GRIA4_ENST00000525187.1_Missense_Mutation_p.R347K|GRIA4_ENST00000393125.2_Missense_Mutation_p.R347K|GRIA4_ENST00000282499.5_Missense_Mutation_p.R347K|GRIA4_ENST00000530497.1_Missense_Mutation_p.R347K	p.R347K	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	8	1486	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	347					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.1040G>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	34	5.350140	0.95830	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.77	5.77	0.91146	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90181	0.6931	L	0.59436	1.845	0.80722	D	1	B;P;P	0.51057	0.005;0.94;0.941	B;D;P	0.70935	0.015;0.971;0.859	D	0.89390	0.3688	10	0.59425	D	0.04	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	347;347;347	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	K	347	ENSP00000376833:R347K;ENSP00000282499:R347K;ENSP00000376835:R347K;ENSP00000415551:R347K;ENSP00000435775:R347K;ENSP00000432180:R347K	ENSP00000282499:R347K	R	+	2	0	GRIA4	105279904	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.420000	0.97426	2.885000	0.99019	0.655000	0.94253	AGG		0.398	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			4	111	0	0	0	1	0	4	111				
LINC00471	151477	broad.mit.edu	37	2	232374010	232374010	+	RNA	SNP	C	C	T			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr2:232374010C>T	ENST00000313064.2	-	0	408					NR_024079.1		Q8N535	CB052_HUMAN	long intergenic non-protein coding RNA 471																		CTTTCTTTCCCGGGACAGTGG	0.493																																						ENST00000313064.2																			0																				114.0	116.0	115.0					2																	232374010		2203	4300	6503			0							g.chr2:232374010C>T	BC033054		2q37.1	2012-10-12	2011-08-31	2011-08-31	ENSG00000181798	ENSG00000181798		"""Long non-coding RNAs"""	28668	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 52"""	C2orf52		12477932	Standard	NR_024079		Approved	MGC43122	uc002vrx.1	Q8N535	OTTHUMG00000133227		2.37:g.232374010C>T								NR_024079.1						0	408	-									RNA	SNP	ENST00000313064.2	37																																																																																						0.493	LINC00471-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000256963.2	NM_173513		4	135	0	0	0	1	0	4	135				
TNIP3	79931	broad.mit.edu	37	4	122075727	122075727	+	Silent	SNP	A	A	G			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr4:122075727A>G	ENST00000509841.1	-	8	780	c.702T>C	c.(700-702)tgT>tgC	p.C234C	TNIP3_ENST00000057513.3_Silent_p.C157C|TNIP3_ENST00000507879.1_Silent_p.C227C|TNIP3_ENST00000454328.1_Silent_p.C157C	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.C157C(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTTTTATTTCACATTCGTAAT	0.348																																						ENST00000454328.1																			1	Substitution - coding silent(1)	p.C157C(1)	prostate(1)	NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(469-471)tgT>tgC		TNFAIP3 interacting protein 3							194.0	178.0	184.0					4																	122075727		2203	4300	6503	SO:0001819	synonymous_variant	79931							g.chr4:122075727A>G	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.702T>C	4.37:g.122075727A>G						TNIP3_ENST00000509841.1_Silent_p.C234C|TNIP3_ENST00000507879.1_Silent_p.C227C|TNIP3_ENST00000057513.3_Silent_p.C157C	p.C157C			Q96KP6	TNIP3_HUMAN			7	698	-			157						Silent	SNP	ENST00000509841.1	37	c.471T>C	CCDS58926.1																																																																																				0.348	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	NM_024873		7	260	0	0	0	1	0	7	260				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	60	0	0	0	1	0	4	60				
NCKAP1	10787	broad.mit.edu	37	2	183846059	183846059	+	Silent	SNP	A	A	G	rs370783845		TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr2:183846059A>G	ENST00000361354.4	-	13	1626	c.1254T>C	c.(1252-1254)caT>caC	p.H418H	NCKAP1_ENST00000360982.2_Silent_p.H424H	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	418					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.H424H(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATTTCCTCACATGTGCTCTAA	0.328																																						ENST00000360982.2																			1	Substitution - coding silent(1)	p.H424H(1)	prostate(1)	breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45						c.(1270-1272)caT>caC		NCK-associated protein 1		A	,	0,4406		0,0,2203	148.0	126.0	134.0		1254,1272	3.5	1.0	2		134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	NCKAP1	NM_013436.3,NM_205842.1	,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,	418/1129,424/1135	183846059	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183846059A>G	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1254T>C	2.37:g.183846059A>G						NCKAP1_ENST00000361354.3_Silent_p.H418H	p.H424H	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		14	2030	-			418					O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	c.1272T>C	CCDS2287.1																																																																																				0.328	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842		7	109	0	0	0	1	0	7	109				
TLL1	7092	broad.mit.edu	37	4	166981195	166981195	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr4:166981195T>C	ENST00000061240.2	+	15	2509	c.1862T>C	c.(1861-1863)cTt>cCt	p.L621P	TLL1_ENST00000507499.1_Missense_Mutation_p.L644P	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	621	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTGGTGGACTTCTTACCAAA	0.458																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1861-1863)cTt>cCt		tolloid-like 1							70.0	69.0	69.0					4																	166981195		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166981195T>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1862T>C	4.37:g.166981195T>C	ENSP00000061240:p.Leu621Pro					TLL1_ENST00000507499.1_Missense_Mutation_p.L644P	p.L621P	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	15	2509	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	621			CUB 3.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.1862T>C	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.790826	0.50102	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.17528	2.27;2.27	6.17	6.17	0.99709	CUB (5);	0.000000	0.64402	U	0.000003	T	0.35508	0.0934	L	0.43598	1.365	0.80722	D	1	P;D	0.89917	0.922;1.0	P;D	0.97110	0.583;1.0	T	0.01397	-1.1365	10	0.39692	T	0.17	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	644;621	E9PD25;O43897	.;TLL1_HUMAN	P	621;644	ENSP00000061240:L621P;ENSP00000426082:L644P	ENSP00000061240:L621P	L	+	2	0	TLL1	167200645	1.000000	0.71417	0.970000	0.41538	0.019000	0.09904	7.921000	0.87530	2.371000	0.80710	0.533000	0.62120	CTT		0.458	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			5	118	0	0	0	1	0	5	118				
C22orf29	79680	broad.mit.edu	37	22	19838698	19838698	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr22:19838698C>G	ENST00000405640.1	-	2	1755	c.1087G>C	c.(1087-1089)Ggg>Cgg	p.G363R	GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.G363R|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.G363R			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	363					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)		p.G363R(1)		NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GTTCAGAACCCAGGAGAAAGT	0.607																																						ENST00000405640.1																			1	Substitution - Missense(1)	p.G363R(1)	prostate(1)	NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7						c.(1087-1089)Ggg>Cgg		chromosome 22 open reading frame 29							24.0	27.0	26.0					22																	19838698		2202	4298	6500	SO:0001583	missense	79680							g.chr22:19838698C>G	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.1087G>C	22.37:g.19838698C>G	ENSP00000384924:p.Gly363Arg					GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.G363R|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.G363R|GNB1L_ENST00000403325.1_Intron	p.G363R			Q7L3V2	CV029_HUMAN			2	1755	-	Colorectal(54;0.0993)		363					A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Missense_Mutation	SNP	ENST00000405640.1	37	c.1087G>C	CCDS13769.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.501455	0.26861	.	.	ENSG00000215012	ENST00000407472;ENST00000328554;ENST00000405640	T;T;T	0.27720	1.65;1.65;1.65	3.31	1.2	0.21068	.	.	.	.	.	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	B	0.19073	0.033	B	0.19946	0.027	T	0.23833	-1.0177	9	0.87932	D	0	.	5.7249	0.18008	0.0:0.7474:0.0:0.2526	.	363	Q7L3V2	CV029_HUMAN	R	363	ENSP00000386111:G363R;ENSP00000330596:G363R;ENSP00000384924:G363R	ENSP00000330596:G363R	G	-	1	0	C22orf29	18218698	0.510000	0.26171	0.008000	0.14137	0.083000	0.17756	0.687000	0.25407	0.419000	0.25927	0.561000	0.74099	GGG		0.607	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627		2	8	0	0	0	1	0	2	8				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	120	0	0	0	1	0	4	120				
MED13L	23389	broad.mit.edu	37	12	116446661	116446661	+	Silent	SNP	C	C	A			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr12:116446661C>A	ENST00000281928.3	-	10	1763	c.1557G>T	c.(1555-1557)gtG>gtT	p.V519V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	519						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.V519V(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TACTGCTAGACACCTCTAAGG	0.453																																						ENST00000281928.3																			1	Substitution - coding silent(1)	p.V519V(1)	prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(1555-1557)gtG>gtT		mediator complex subunit 13-like							148.0	134.0	138.0					12																	116446661		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116446661C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1557G>T	12.37:g.116446661C>A							p.V519V	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	10	1763	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		519					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.1557G>T	CCDS9177.1																																																																																				0.453	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			7	97	1	0	0.000157383	1	0.000182905	7	97				
OR5B17	219965	broad.mit.edu	37	11	58126475	58126475	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:58126475A>C	ENST00000357377.3	-	1	67	c.68T>G	c.(67-69)gTt>gGt	p.V23G		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V23G(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAGAGGGGAACCTGTAGTTC	0.438																																						ENST00000357377.3																			1	Substitution - Missense(1)	p.V23G(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(67-69)gTt>gGt		olfactory receptor, family 5, subfamily B, member 17							95.0	96.0	95.0					11																	58126475		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126475A>C	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.68T>G	11.37:g.58126475A>C	ENSP00000349945:p.Val23Gly						p.V23G	NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN			1	67	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	23					Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.68T>G	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	a	7.723	0.697672	0.15106	.	.	ENSG00000197786	ENST00000357377	T	0.00466	7.23	3.6	2.41	0.29592	.	.	.	.	.	T	0.00384	0.0012	L	0.37466	1.105	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.41161	-0.9524	9	0.44086	T	0.13	-1.8832	8.7503	0.34611	0.8078:0.1922:0.0:0.0	.	23	Q8NGF7	OR5BH_HUMAN	G	23	ENSP00000349945:V23G	ENSP00000349945:V23G	V	-	2	0	OR5B17	57883051	0.000000	0.05858	0.001000	0.08648	0.119000	0.20118	-0.131000	0.10482	0.428000	0.26173	0.378000	0.23410	GTT		0.438	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		11	166	0	0	0	1	0	11	166				
MTHFD1	4522	broad.mit.edu	37	14	64909059	64909059	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr14:64909059C>G	ENST00000545908.1	+	21	2472	c.2243C>G	c.(2242-2244)cCc>cGc	p.P748R	MTHFD1_ENST00000216605.8_Missense_Mutation_p.P692R|CTD-2555O16.4_ENST00000609125.1_RNA|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	692	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.P692R(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GGCCTCTGCCCCCACGTGGTG	0.527																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	ENST00000555709.1																			1	Substitution - Missense(1)	p.P692R(1)	prostate(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30						c.(2074-2076)cCc>cGc		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						65.0	66.0	66.0					14																	64909059		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	g.chr14:64909059C>G	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2243C>G	14.37:g.64909059C>G	ENSP00000438588:p.Pro748Arg					MTHFD1_ENST00000545908.1_Missense_Mutation_p.P748R|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.7_Missense_Mutation_p.P748R	p.P692R	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	21	2462	+			692			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.2075C>G		.	.	.	.	.	.	.	.	.	.	C	28.2	4.903607	0.92035	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605	T;T;T	0.55588	0.51;0.51;0.51	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.86138	0.5861	H	0.99545	4.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91334	0.5092	10	0.87932	D	0	-14.8154	20.5827	0.99408	0.0:1.0:0.0:0.0	.	748;692	F5H2F4;G3V2B8	.;.	R	748;692;748	ENSP00000438588:P748R;ENSP00000450560:P692R;ENSP00000216605:P748R	ENSP00000216605:P692R	P	+	2	0	MTHFD1	63978812	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CCC		0.527	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			5	154	0	0	0	1	0	5	154				
CCDC140	151278	broad.mit.edu	37	2	223168894	223168894	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr2:223168894G>C	ENST00000295226.1	+	2	657	c.273G>C	c.(271-273)aaG>aaC	p.K91N		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	91								p.K91N(1)		endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTTTTGAAGAGTGCTGCGC	0.662																																						ENST00000295226.1																			1	Substitution - Missense(1)	p.K91N(1)	prostate(1)	endometrium(4)|large_intestine(1)|prostate(1)	6						c.(271-273)aaG>aaC		coiled-coil domain containing 140							27.0	32.0	31.0					2																	223168894		2203	4300	6503	SO:0001583	missense	151278							g.chr2:223168894G>C	AK057009	CCDS2452.1	2q36.1	2008-02-05			ENSG00000163081	ENSG00000163081			26514	protein-coding gene	gene with protein product							Standard	NM_153038		Approved	FLJ32447	uc002vnb.1	Q96MF4	OTTHUMG00000133154	ENST00000295226.1:c.273G>C	2.37:g.223168894G>C	ENSP00000295226:p.Lys91Asn						p.K91N	NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	657	+		Renal(207;0.0376)	91						Missense_Mutation	SNP	ENST00000295226.1	37	c.273G>C	CCDS2452.1	.	.	.	.	.	.	.	.	.	.	G	9.387	1.074391	0.20227	.	.	ENSG00000163081	ENST00000295226	.	.	.	2.64	-0.792	0.10925	.	.	.	.	.	T	0.21550	0.0519	N	0.08118	0	0.09310	N	1	P	0.39809	0.689	P	0.44477	0.451	T	0.20739	-1.0266	8	0.87932	D	0	.	6.0513	0.19787	0.1481:0.59:0.2619:0.0	.	91	Q96MF4	CC140_HUMAN	N	91	.	ENSP00000295226:K91N	K	+	3	2	CCDC140	222877138	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.117000	0.15583	-0.200000	0.10300	0.591000	0.81541	AAG		0.662	CCDC140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256854.1	NM_153038		3	40	0	0	0	1	0	3	40				
GAS8	2622	broad.mit.edu	37	16	90097783	90097783	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr16:90097783G>T	ENST00000268699.4	+	3	289	c.167G>T	c.(166-168)cGg>cTg	p.R56L	C16orf3_ENST00000408886.2_5'Flank|GAS8_ENST00000536122.1_Missense_Mutation_p.R31L|GAS8_ENST00000540721.1_3'UTR	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	56	Regulates microtubule-binding. {ECO:0000250}.				cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CAGCTGGAGCGGGACAAGATC	0.617																																						ENST00000268699.4																			0				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(166-168)cGg>cTg		growth arrest-specific 8							106.0	99.0	101.0					16																	90097783		2198	4300	6498	SO:0001583	missense	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90097783G>T	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.167G>T	16.37:g.90097783G>T	ENSP00000268699:p.Arg56Leu					GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Missense_Mutation_p.R31L	p.R56L	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	3	289	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	56			Regulates microtubule-binding (By similarity).		B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.167G>T	CCDS10992.1	.	.	.	.	.	.	.	.	.	.	G	36	5.709180	0.96821	.	.	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721;ENST00000537797	T;T	0.56611	0.49;0.45	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.81302	0.4794	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.85001	0.0900	9	.	.	.	-42.4178	20.2366	0.98359	0.0:0.0:1.0:0.0	.	27;56;56	B7Z1X3;B7Z9B0;O95995	.;.;GAS8_HUMAN	L	31;56;27;56	ENSP00000440977:R31L;ENSP00000268699:R56L	.	R	+	2	0	GAS8	88625284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.712000	0.84684	2.792000	0.96026	0.557000	0.71058	CGG		0.617	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			3	61	1	0	1	1	1	3	61				
DAAM2	23500	broad.mit.edu	37	6	39832798	39832798	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr6:39832798A>G	ENST00000398904.2	+	5	558	c.376A>G	c.(376-378)Agg>Ggg	p.R126G	DAAM2_ENST00000274867.4_Missense_Mutation_p.R126G|DAAM2_ENST00000538976.1_Missense_Mutation_p.R126G|DAAM2_ENST00000494405.1_3'UTR			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	126	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.R126G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACGGAGATGAGGAACCAAGT	0.557											OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538976.1																			1	Substitution - Missense(1)	p.R126G(1)	prostate(1)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(376-378)Agg>Ggg		dishevelled associated activator of morphogenesis 2							100.0	118.0	112.0					6																	39832798		2095	4219	6314	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39832798A>G	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.376A>G	6.37:g.39832798A>G	ENSP00000381876:p.Arg126Gly		OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	888	DAAM2_ENST00000274867.4_Missense_Mutation_p.R126G|DAAM2_ENST00000398904.2_Missense_Mutation_p.R126G|DAAM2_ENST00000494405.1_3'UTR	p.R126G	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			5	558	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		126			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.376A>G	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	a	21.7	4.192750	0.78902	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.87103	-2.21;-2.21;-2.21	5.62	5.62	0.85841	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.047393	0.85682	D	0.000000	D	0.86314	0.5903	M	0.78916	2.43	0.80722	D	1	P;P	0.42078	0.728;0.77	B;P	0.45998	0.366;0.5	D	0.86010	0.1500	10	0.33940	T	0.23	.	15.4809	0.75524	1.0:0.0:0.0:0.0	.	126;126	G5EA45;Q86T65	.;DAAM2_HUMAN	G	126	ENSP00000274867:R126G;ENSP00000381876:R126G;ENSP00000437808:R126G	ENSP00000274867:R126G	R	+	1	2	DAAM2	39940776	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.099000	0.57755	2.149000	0.67028	0.529000	0.55759	AGG		0.557	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			2	14	0	0	0	1	0	2	14				
BCL6	604	broad.mit.edu	37	3	187447376	187447376	+	Missense_Mutation	SNP	T	T	C	rs139857005		TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr3:187447376T>C	ENST00000406870.2	-	5	1183	c.817A>G	c.(817-819)Atg>Gtg	p.M273V	BCL6_ENST00000450123.2_Missense_Mutation_p.M273V|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.M273V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	273					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M273V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGTAGTGCATATCACTTCGT	0.547			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		1	Substitution - Missense(1)	p.M273V(1)	prostate(1)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(817-819)Atg>Gtg		B-cell CLL/lymphoma 6		T	VAL/MET,VAL/MET,VAL/MET	0,4406		0,0,2203	85.0	88.0	87.0		817,817,817	4.3	1.0	3	dbSNP_134	87	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	BCL6	NM_001130845.1,NM_001134738.1,NM_001706.4	21,21,21	0,2,6501	CC,CT,TT		0.0233,0.0,0.0154	benign,benign,benign	273/707,273/651,273/707	187447376	2,13004	2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447376T>C		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.817A>G	3.37:g.187447376T>C	ENSP00000384371:p.Met273Val					BCL6_ENST00000450123.2_Missense_Mutation_p.M273V|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.M273V|RP11-211G3.3_ENST00000449623.1_Intron	p.M273V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1183	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		273					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.817A>G	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	T	3.581	-0.085526	0.07097	0.0	2.33E-4	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.06933	3.24;3.24;3.25	5.46	4.29	0.51040	.	0.145792	0.85682	D	0.000000	T	0.07413	0.0187	L	0.43152	1.355	0.29928	N	0.822185	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.09684	-1.0663	10	0.22109	T	0.4	.	8.7114	0.34387	0.0:0.1496:0.0:0.8504	.	273;273	B8PSA7;P41182	.;BCL6_HUMAN	V	273	ENSP00000384371:M273V;ENSP00000232014:M273V;ENSP00000413122:M273V	ENSP00000232014:M273V	M	-	1	0	BCL6	188930070	0.999000	0.42202	0.998000	0.56505	0.957000	0.61999	0.753000	0.26376	2.203000	0.70933	0.459000	0.35465	ATG		0.547	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		7	122	0	0	0	1	0	7	122				
SGSH	6448	broad.mit.edu	37	17	78188012	78188012	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:78188012G>T	ENST00000326317.6	-	5	708	c.622C>A	c.(622-624)Cca>Aca	p.P208T	SGSH_ENST00000570923.1_Silent_p.S219S|SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000534910.1_Missense_Mutation_p.P5T	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	208					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.P208T(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTCCAGTCTGGGATACGACCC	0.667																																						ENST00000326317.6																			1	Substitution - Missense(1)	p.P208T(1)	prostate(1)	central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(622-624)Cca>Aca		N-sulfoglucosamine sulfohydrolase							38.0	34.0	35.0					17																	78188012		2201	4300	6501	SO:0001583	missense	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78188012G>T	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.622C>A	17.37:g.78188012G>T	ENSP00000314606:p.Pro208Thr					SGSH_ENST00000570923.1_Silent_p.S219S|SGSH_ENST00000534910.1_Missense_Mutation_p.P5T|SGSH_ENST00000572208.1_5'UTR	p.P208T	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		5	708	-	all_neural(118;0.0952)		208					A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.622C>A	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	g	26.9	4.783483	0.90282	.	.	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.98762	-5.12;-3.93	4.24	4.24	0.50183	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98950	0.9643	M	0.86028	2.79	0.80722	D	1	P;D	0.57899	0.88;0.981	P;P	0.59546	0.859;0.796	D	0.99342	1.0912	10	0.59425	D	0.04	-10.4945	16.4492	0.83974	0.0:0.0:1.0:0.0	.	208;211	P51688;Q59EB1	SPHM_HUMAN;.	T	208;5	ENSP00000314606:P208T;ENSP00000437778:P5T	ENSP00000314606:P208T	P	-	1	0	SGSH	75802607	1.000000	0.71417	0.999000	0.59377	0.886000	0.51366	7.614000	0.82996	2.195000	0.70347	0.552000	0.68991	CCA		0.667	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		4	31	1	0	0.0215528	1	0.0226041	4	31				
SNCAIP	9627	broad.mit.edu	37	5	121739540	121739540	+	Missense_Mutation	SNP	C	C	T	rs199933356		TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr5:121739540C>T	ENST00000261368.8	+	3	372	c.110C>T	c.(109-111)aCg>aTg	p.T37M	SNCAIP_ENST00000379533.2_Missense_Mutation_p.T84M|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R28C|SNCAIP_ENST00000503116.2_Missense_Mutation_p.T84M|SNCAIP_ENST00000261367.7_Missense_Mutation_p.T84M|SNCAIP_ENST00000504884.2_Missense_Mutation_p.T37M|SNCAIP_ENST00000379536.2_Missense_Mutation_p.T37M|SNCAIP_ENST00000542191.1_5'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R22C	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	37					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.T84M(2)|p.T37M(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGATGTGATACGCAAAACGAA	0.463																																						ENST00000261367.7																			3	Substitution - Missense(3)	p.T84M(2)|p.T37M(1)	prostate(3)	NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39						c.(250-252)aCg>aTg		synuclein, alpha interacting protein		C	MET/THR	0,4406		0,0,2203	222.0	196.0	205.0		110	5.6	0.1	5		205	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNCAIP	NM_005460.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	37/920	121739540	1,13005	2203	4300	6503	SO:0001583	missense	9627				cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	g.chr5:121739540C>T	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.110C>T	5.37:g.121739540C>T	ENSP00000261368:p.Thr37Met					SNCAIP_ENST00000503116.2_Missense_Mutation_p.T84M|SNCAIP_ENST00000379533.2_Missense_Mutation_p.T84M|SNCAIP_ENST00000504884.2_Missense_Mutation_p.T37M|SNCAIP_ENST00000261368.8_Missense_Mutation_p.T37M|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R22C|SNCAIP_ENST00000379536.2_Missense_Mutation_p.T37M|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R28C|SNCAIP_ENST00000542191.1_5'UTR	p.T84M			Q9Y6H5	SNCAP_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)	5	1679	+		all_cancers(142;0.00787)|Prostate(80;0.0327)	37					D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	ENST00000261368.8	37	c.251C>T	CCDS4131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.40|15.40	2.822941|2.822941	0.50739|0.50739	0.0|0.0	1.16E-4|1.16E-4	ENSG00000064692|ENSG00000064692	ENST00000379538;ENST00000414317;ENST00000447854|ENST00000514467;ENST00000506272;ENST00000508681;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000261367;ENST00000503116;ENST00000504884	T;T|T;T;T;T;T;T;T;T;T;T	0.01725|0.48836	4.95;4.67|1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;0.8	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|0.555807	.|0.19187	.|N	.|0.120533	T|T	0.41396|0.41396	0.1157|0.1157	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	P;P;P|P;D;D;D	0.47350|0.64830	0.83;0.894;0.894|0.923;0.994;0.979;0.964	B;B;B|B;P;P;B	0.39840|0.50617	0.165;0.311;0.311|0.178;0.646;0.557;0.354	T|T	0.51631|0.51631	-0.8681|-0.8681	9|10	0.87932|0.87932	D|D	0|0	-3.1259|-3.1259	17.4977|17.4977	0.87723|0.87723	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;22;22|37;84;84;37	B7Z995;Q9Y6H5-5;Q9Y6H5-2|D6R9G8;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.|.;.;.;SNCAP_HUMAN	C|M	22;28;28|37;84;37;37;37;84;37;84;84;37	ENSP00000368854:R22C;ENSP00000394392:R28C|ENSP00000427090:T37M;ENSP00000426551:T84M;ENSP00000422610:T37M;ENSP00000422106:T37M;ENSP00000261368:T37M;ENSP00000368848:T84M;ENSP00000368851:T37M;ENSP00000261367:T84M;ENSP00000423199:T84M;ENSP00000426904:T37M	ENSP00000368854:R22C|ENSP00000261367:T84M	R|T	+|+	1|2	0|0	SNCAIP|SNCAIP	121767439|121767439	0.949000|0.949000	0.32298|0.32298	0.068000|0.068000	0.19968|0.19968	0.061000|0.061000	0.15899|0.15899	5.261000|5.261000	0.65496|0.65496	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.463	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1			12	169	0	0	0	1	0	12	169				
PKDREJ	10343	broad.mit.edu	37	22	46657040	46657040	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr22:46657040C>T	ENST00000253255.5	-	1	2179	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	727	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)	p.R727Q(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTGTCATCTCGGAGAGGTAA	0.388																																						ENST00000253255.5																			1	Substitution - Missense(1)	p.R727Q(1)	prostate(1)	NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(2179-2181)cGa>cAa		polycystin (PKD) family receptor for egg jelly							87.0	88.0	87.0					22																	46657040		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657040C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.2180G>A	22.37:g.46657040C>T	ENSP00000253255:p.Arg727Gln						p.R727Q	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	2179	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	727			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.2180G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	T	1.437	-0.568677	0.03910	.	.	ENSG00000130943	ENST00000253255	T	0.34072	1.38	5.23	0.694	0.18062	Egg jelly receptor, REJ-like (1);	0.633514	0.14655	N	0.306324	T	0.06554	0.0168	N	0.00392	-1.555	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31641	-0.9936	10	0.02654	T	1	0.0098	1.592	0.02656	0.1312:0.2174:0.1248:0.5266	.	727	Q9NTG1	PKDRE_HUMAN	Q	727	ENSP00000253255:R727Q	ENSP00000253255:R727Q	R	-	2	0	PKDREJ	45035704	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.788000	0.26872	-0.139000	0.11414	-0.260000	0.10688	CGA		0.388	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		6	209	0	0	0	1	0	6	209				
ZNF441	126068	broad.mit.edu	37	19	11892189	11892189	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr19:11892189C>T	ENST00000357901.4	+	4	1652	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	ZNF441_ENST00000454339.2_Missense_Mutation_p.S450L	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	517					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S517L(1)|p.S450L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCCCAGTTCATTTCGAAGA	0.398																																						ENST00000357901.4																			2	Substitution - Missense(2)	p.S517L(1)|p.S450L(1)	prostate(2)	central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1549-1551)tCa>tTa		zinc finger protein 441							72.0	73.0	73.0					19																	11892189		2203	4299	6502	SO:0001583	missense	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892189C>T	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1550C>T	19.37:g.11892189C>T	ENSP00000350576:p.Ser517Leu					ZNF441_ENST00000454339.2_Missense_Mutation_p.S450L	p.S517L	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN			4	1652	+			517						Missense_Mutation	SNP	ENST00000357901.4	37	c.1550C>T	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	14.04	2.418015	0.42918	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.15718	2.4;2.4	1.22	-1.81	0.07882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	L	0.28776	0.89	0.09310	N	1	P	0.47841	0.901	B	0.41088	0.347	T	0.24512	-1.0158	9	0.36615	T	0.2	.	8.2743	0.31864	0.7554:0.2446:0.0:0.0	.	517	Q8N8Z8	ZN441_HUMAN	L	473;517;450	ENSP00000350576:S517L;ENSP00000403738:S450L	ENSP00000350576:S517L	S	+	2	0	ZNF441	11753189	0.000000	0.05858	0.000000	0.03702	0.971000	0.66376	-0.998000	0.03701	-0.425000	0.07371	0.305000	0.20034	TCA		0.398	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355		8	160	0	0	0	1	0	8	160				
ZER1	10444	broad.mit.edu	37	9	131503068	131503068	+	Silent	SNP	C	C	T			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr9:131503068C>T	ENST00000291900.2	-	12	2242	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	612					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)	p.Q612Q(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CGCTGATGAACTGGGAAGTCA	0.468																																						ENST00000291900.2																			1	Substitution - coding silent(1)	p.Q612Q(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						c.(1834-1836)caG>caA		zyg-11 related, cell cycle regulator							122.0	110.0	114.0					9																	131503068		2203	4300	6503	SO:0001819	synonymous_variant	10444				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	g.chr9:131503068C>T	X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.1836G>A	9.37:g.131503068C>T							p.Q612Q	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN			12	2242	-			612					O00156|Q5T272|Q5T273	Silent	SNP	ENST00000291900.2	37	c.1836G>A	CCDS6910.1																																																																																				0.468	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054491.1	NM_006336		8	166	0	0	0	1	0	8	166				
UBQLN3	50613	broad.mit.edu	37	11	5529391	5529391	+	Silent	SNP	T	T	C			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:5529391T>C	ENST00000311659.4	-	2	1545	c.1398A>G	c.(1396-1398)gcA>gcG	p.A466A	HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	466										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAATGGCTGCCGTGGGGG	0.547																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1396-1398)gcA>gcG		ubiquilin 3							58.0	67.0	64.0					11																	5529391		2201	4297	6498	SO:0001819	synonymous_variant	50613							g.chr11:5529391T>C	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1398A>G	11.37:g.5529391T>C						HBG2_ENST00000380259.2_Intron	p.A466A	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1545	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	466					Q9NRE0	Silent	SNP	ENST00000311659.4	37	c.1398A>G	CCDS7758.1																																																																																				0.547	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		5	102	0	0	0	1	0	5	102				
LRIG3	121227	broad.mit.edu	37	12	59267899	59267899	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr12:59267899G>A	ENST00000320743.3	-	18	3339	c.3053C>T	c.(3052-3054)tCc>tTc	p.S1018F	LRIG3_ENST00000379141.4_Missense_Mutation_p.S958F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1018					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1018F(2)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATCTAAAGAGGACTTGTTTAG	0.403			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	2	Substitution - Missense(2)	p.S1018F(2)	prostate(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(3052-3054)tCc>tTc		leucine-rich repeats and immunoglobulin-like domains 3							78.0	80.0	80.0					12																	59267899		2203	4300	6503	SO:0001583	missense	121227					integral to membrane		g.chr12:59267899G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.3053C>T	12.37:g.59267899G>A	ENSP00000326759:p.Ser1018Phe					LRIG3_ENST00000379141.4_Missense_Mutation_p.S958F	p.S1018F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		18	3339	-			1018					Q6UXL7|Q8NC72	Missense_Mutation	SNP	ENST00000320743.3	37	c.3053C>T	CCDS8960.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312290	0.40895	.	.	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.60797	0.2;0.16	5.63	4.67	0.58626	.	0.235757	0.22038	N	0.065490	T	0.44286	0.1286	L	0.36672	1.1	0.25937	N	0.982928	P;B	0.36315	0.547;0.214	B;B	0.34301	0.179;0.136	T	0.36817	-0.9732	9	.	.	.	.	10.7486	0.46196	0.0:0.0:0.6792:0.3208	.	958;1018	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	F	958;1018	ENSP00000368436:S958F;ENSP00000326759:S1018F	.	S	-	2	0	LRIG3	57554166	0.926000	0.31397	0.998000	0.56505	0.506000	0.33950	2.411000	0.44600	2.649000	0.89929	0.650000	0.86243	TCC		0.403	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		11	219	0	0	0	1	0	11	219				
P2RX2	22953	broad.mit.edu	37	12	133197607	133197607	+	Silent	SNP	T	T	C			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr12:133197607T>C	ENST00000389110.3	+	8	832	c.795T>C	c.(793-795)atT>atC	p.I265I	P2RX2_ENST00000449132.2_Silent_p.I231I|P2RX2_ENST00000350048.5_Silent_p.I241I|P2RX2_ENST00000343948.4_Silent_p.I265I|P2RX2_ENST00000352418.4_Silent_p.I193I|P2RX2_ENST00000348800.5_Silent_p.I265I|P2RX2_ENST00000351222.4_Silent_p.I173I	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	265					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.I265I(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TCGGGGTCATTATCAACTGGG	0.637																																						ENST00000389110.3																			1	Substitution - coding silent(1)	p.I265I(1)	prostate(1)	NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20						c.(793-795)atT>atC		purinergic receptor P2X, ligand-gated ion channel, 2							126.0	104.0	111.0					12																	133197607		2203	4300	6503	SO:0001819	synonymous_variant	0				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133197607T>C	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.795T>C	12.37:g.133197607T>C						P2RX2_ENST00000351222.4_Silent_p.I173I|P2RX2_ENST00000449132.2_Silent_p.I231I|P2RX2_ENST00000352418.4_Silent_p.I193I|P2RX2_ENST00000343948.4_Silent_p.I265I|P2RX2_ENST00000348800.5_Silent_p.I265I|P2RX2_ENST00000350048.5_Silent_p.I241I	p.I265I	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	8	832	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	265					A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Silent	SNP	ENST00000389110.3	37	c.795T>C	CCDS31931.1																																																																																				0.637	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			5	84	0	0	0	1	0	5	84				
TRIM6	117854	broad.mit.edu	37	11	5632424	5632424	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:5632424A>G	ENST00000278302.5	+	8	1459	c.1319A>G	c.(1318-1320)gAg>gGg	p.E440G	TRIM6_ENST00000380097.3_Missense_Mutation_p.E468G|TRIM6_ENST00000515022.1_Missense_Mutation_p.E265G|TRIM6_ENST00000481603.1_3'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000506134.1_Missense_Mutation_p.E265G|TRIM6_ENST00000445329.1_Missense_Mutation_p.E265G|TRIM6_ENST00000507320.1_Missense_Mutation_p.E265G|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000380107.1_Missense_Mutation_p.E414G	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	440	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.E468G(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTAGATTATGAGGCTGGTACT	0.433																																						ENST00000380097.3																			2	Substitution - Missense(2)	p.E468G(2)	prostate(2)	breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22						c.(1402-1404)gAg>gGg		tripartite motif containing 6							137.0	132.0	134.0					11																	5632424		2201	4297	6498	SO:0001583	missense	117854							g.chr11:5632424A>G	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.1319A>G	11.37:g.5632424A>G	ENSP00000278302:p.Glu440Gly					TRIM6_ENST00000278302.5_Missense_Mutation_p.E440G|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000515022.1_Missense_Mutation_p.E265G|TRIM6_ENST00000506134.1_Missense_Mutation_p.E265G|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_Missense_Mutation_p.E265G|TRIM6_ENST00000507320.1_Missense_Mutation_p.E265G|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380107.1_Missense_Mutation_p.E414G|TRIM6-TRIM34_ENST00000354852.5_Intron	p.E468G	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1				Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	8	1645	+		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)						A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.1403A>G	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200884	0.79015	.	.	ENSG00000121236	ENST00000278302;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	4.07	4.07	0.47477	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.71813	0.3384	M	0.91872	3.25	0.80722	D	1	B;P;P	0.47762	0.031;0.9;0.863	B;B;P	0.45377	0.201;0.346;0.478	T	0.79771	-0.1663	9	0.87932	D	0	.	11.6412	0.51233	1.0:0.0:0.0:0.0	.	414;468;440	E9PFM0;Q9C030-2;Q9C030	.;.;TRIM6_HUMAN	G	440;265;414;468;265;347;265;265	ENSP00000278302:E440G;ENSP00000427704:E265G;ENSP00000369450:E414G;ENSP00000369440:E468G;ENSP00000399215:E265G;ENSP00000421802:E265G;ENSP00000421079:E265G	ENSP00000278302:E440G	E	+	2	0	TRIM6	5589000	1.000000	0.71417	0.997000	0.53966	0.932000	0.56968	8.636000	0.91010	2.079000	0.62486	0.402000	0.26972	GAG		0.433	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		14	316	0	0	0	1	0	14	316				
UBR4	23352	broad.mit.edu	37	1	19493625	19493625	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr1:19493625G>C	ENST00000375254.3	-	29	4027	c.4000C>G	c.(4000-4002)Ctg>Gtg	p.L1334V	UBR4_ENST00000375217.2_Missense_Mutation_p.L1334V|UBR4_ENST00000375226.2_Missense_Mutation_p.L1334V|UBR4_ENST00000375267.2_Missense_Mutation_p.L1334V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1334					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGCGTTCCAGGGAGTTGCTA	0.483																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4000-4002)Ctg>Gtg		ubiquitin protein ligase E3 component n-recognin 4							158.0	144.0	148.0					1																	19493625		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19493625G>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4000C>G	1.37:g.19493625G>C	ENSP00000364403:p.Leu1334Val					UBR4_ENST00000375254.3_Missense_Mutation_p.L1334V|UBR4_ENST00000375217.2_Missense_Mutation_p.L1334V|UBR4_ENST00000375226.2_Missense_Mutation_p.L1334V	p.L1334V			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	29	4003	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1334					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4000C>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419366	0.83559	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-0.97	5.75	3.89	0.44902	.	0.000000	0.64402	D	0.000003	D	0.82467	0.5043	L	0.54323	1.7	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.80417	-0.1391	10	0.39692	T	0.17	.	12.012	0.53293	0.141:0.0:0.859:0.0	.	1334	Q5T4S7	UBR4_HUMAN	V	1334;1334;1334;1334;44;550	ENSP00000364403:L1334V;ENSP00000364416:L1334V;ENSP00000364365:L1334V;ENSP00000364374:L1334V;ENSP00000404897:L44V	ENSP00000364365:L1334V	L	-	1	2	UBR4	19366212	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	3.675000	0.54605	0.789000	0.33779	0.585000	0.79938	CTG		0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		6	192	0	0	0	1	0	6	192				
DRD2	1813	broad.mit.edu	37	11	113295366	113295366	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:113295366G>A	ENST00000362072.3	-	2	352	c.8C>T	c.(7-9)cCa>cTa	p.P3L	DRD2_ENST00000538967.1_Missense_Mutation_p.P3L|DRD2_ENST00000544518.1_Missense_Mutation_p.P3L|DRD2_ENST00000346454.3_Missense_Mutation_p.P3L|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Missense_Mutation_p.P3L|DRD2_ENST00000355319.2_Missense_Mutation_p.P3L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	3					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.P3L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CAGATTCAGTGGATCCATCAG	0.582																																						ENST00000362072.3																			1	Substitution - Missense(1)	p.P3L(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39						c.(7-9)cCa>cTa		dopamine receptor D2	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						81.0	76.0	78.0					11																	113295366		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113295366G>A	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.8C>T	11.37:g.113295366G>A	ENSP00000354859:p.Pro3Leu					DRD2_ENST00000542968.1_Missense_Mutation_p.P3L|DRD2_ENST00000538967.1_Missense_Mutation_p.P3L|DRD2_ENST00000346454.3_Missense_Mutation_p.P3L|DRD2_ENST00000544518.1_Missense_Mutation_p.P3L|DRD2_ENST00000355319.2_Missense_Mutation_p.P3L	p.P3L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	2	352	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	3					Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.8C>T	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980136	0.53827	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292;ENST00000542616	T;T;T;T;T;T;T	0.72505	-0.65;-0.61;-0.63;-0.66;-0.63;-0.65;-0.66	5.49	5.49	0.81192	.	0.286980	0.40302	N	0.001136	T	0.57154	0.2034	N	0.19112	0.55	0.52501	D	0.999952	B;B;B;B	0.13145	0.007;0.007;0.006;0.004	B;B;B;B	0.13407	0.009;0.009;0.006;0.004	T	0.53563	-0.8421	10	0.11182	T	0.66	.	19.3619	0.94442	0.0:0.0:1.0:0.0	.	3;3;3;3	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	L	3	ENSP00000347474:P3L;ENSP00000278597:P3L;ENSP00000354859:P3L;ENSP00000441068:P3L;ENSP00000442172:P3L;ENSP00000438215:P3L;ENSP00000438419:P3L	ENSP00000278597:P3L	P	-	2	0	DRD2	112800576	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	5.571000	0.67404	2.581000	0.87130	0.561000	0.74099	CCA		0.582	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		4	79	0	0	0	1	0	4	79				
SAMD14	201191	broad.mit.edu	37	17	48193048	48193048	+	Silent	SNP	C	C	T			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:48193048C>T	ENST00000330175.4	-	7	1019	c.702G>A	c.(700-702)ccG>ccA	p.P234P	SAMD14_ENST00000503734.1_5'Flank|SAMD14_ENST00000503131.1_Silent_p.P234P	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	234										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AAGGCAGGAACGGGGAGCCCC	0.642																																						ENST00000330175.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						c.(700-702)ccG>ccA		sterile alpha motif domain containing 14							84.0	92.0	89.0					17																	48193048		2203	4300	6503	SO:0001819	synonymous_variant	201191							g.chr17:48193048C>T		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.702G>A	17.37:g.48193048C>T						SAMD14_ENST00000503131.1_Silent_p.P234P	p.P234P	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN			7	1019	-			234					A5D8V1|Q8N2X0	Silent	SNP	ENST00000330175.4	37	c.702G>A	CCDS58562.1																																																																																				0.642	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920		7	191	0	0	0	1	0	7	191				
SCAF1	58506	broad.mit.edu	37	19	50158050	50158050	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr19:50158050A>C	ENST00000360565.3	+	9	3665	c.3541A>C	c.(3541-3543)Acc>Ccc	p.T1181P		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1181					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.T1181P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GACCCCCCCCACCCCCACCGG	0.692																																						ENST00000360565.3																			1	Substitution - Missense(1)	p.T1181P(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(3541-3543)Acc>Ccc		SR-related CTD-associated factor 1							20.0	23.0	22.0					19																	50158050		2199	4287	6486	SO:0001583	missense	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50158050A>C	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3541A>C	19.37:g.50158050A>C	ENSP00000353769:p.Thr1181Pro						p.T1181P	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	9	3665	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1181					Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	c.3541A>C	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	a	13.45	2.240623	0.39598	.	.	ENSG00000126461	ENST00000360565	T	0.32272	1.46	5.22	4.16	0.48862	.	0.098719	0.39020	N	0.001484	T	0.32164	0.0820	N	0.19112	0.55	0.37539	D	0.918243	D	0.61080	0.989	P	0.58266	0.836	T	0.15809	-1.0424	10	0.37606	T	0.19	-37.8252	11.2886	0.49237	0.8541:0.0:0.0:0.1459	.	1181	Q9H7N4	SFR19_HUMAN	P	1181	ENSP00000353769:T1181P	ENSP00000353769:T1181P	T	+	1	0	SCAF1	54849862	0.992000	0.36948	1.000000	0.80357	0.794000	0.44872	2.562000	0.45914	2.193000	0.70182	0.529000	0.55759	ACC		0.692	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		4	23	0	0	0	1	0	4	23				
FOXP1	27086	broad.mit.edu	37	3	71027051	71027051	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr3:71027051delT	ENST00000318789.4	-	15	1801	c.1276delA	c.(1276-1278)accfs	p.T427fs	FOXP1_ENST00000498215.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000491238.1_Frame_Shift_Del_p.T429fs|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000484350.1_Frame_Shift_Del_p.T351fs|FOXP1_ENST00000468577.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000475937.1_Frame_Shift_Del_p.T427fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	427					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATGCTGGTGGTTGTGATGACA	0.577			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1276-1278)ccfs		forkhead box P1							163.0	153.0	156.0					3																	71027051		2203	4300	6503	SO:0001589	frameshift_variant	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71027051delT	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1276delA	3.37:g.71027051delT	ENSP00000318902:p.Thr427fs					FOXP1_ENST00000484350.1_Frame_Shift_Del_p.T351fs|FOXP1_ENST00000498215.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000491238.1_Frame_Shift_Del_p.T429fs|FOXP1_ENST00000475937.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000468577.1_Frame_Shift_Del_p.T427fs	p.T427fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	15	1801	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	427					A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Frame_Shift_Del	DEL	ENST00000318789.4	37	c.1276delA	CCDS2914.1																																																																																				0.577	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		11	265						11	265	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37566389	37566390	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:37566389_37566390delTA	ENST00000300651.6	-	17	2307_2308	c.2084_2085delTA	c.(2083-2085)ttafs	p.L695fs	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCTCAGGTGGTAATCTTGATGA	0.46										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(2083-2085)tfs		mediator complex subunit 1																																				SO:0001589	frameshift_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37566389_37566390delTA	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2084_2085delTA	17.37:g.37566389_37566390delTA	ENSP00000300651:p.Leu695fs	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.L695fs	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	2307_2308	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	695			Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and THRA.|Interaction with VDR.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Frame_Shift_Del	DEL	ENST00000300651.6	37	c.2084_2085delTA	CCDS11336.1																																																																																				0.460	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		15	410						15	410	---	---	---	---
