#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
OR2T8	343172	broad.mit.edu	37	1	248084558	248084558	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr1:248084558C>T	ENST00000319968.4	+	1	239	c.239C>T	c.(238-240)gCg>gTg	p.A80V		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A80G(1)|p.A80V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCAAAATGGCGGCTGACTAC	0.577																																						ENST00000319968.4																			2	Substitution - Missense(2)	p.A80G(1)|p.A80V(1)	lung(2)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(238-240)gCg>gTg		olfactory receptor, family 2, subfamily T, member 8							40.0	39.0	40.0					1																	248084558		2190	4289	6479	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248084558C>T		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.239C>T	1.37:g.248084558C>T	ENSP00000326225:p.Ala80Val						p.A80V	NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	239	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	80						Missense_Mutation	SNP	ENST00000319968.4	37	c.239C>T	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	c	5.040	0.193017	0.09599	.	.	ENSG00000177462	ENST00000319968	T	0.00441	7.41	3.81	1.87	0.25490	GPCR, rhodopsin-like superfamily (1);	0.224332	0.22373	U	0.060913	T	0.00241	0.0007	L	0.43923	1.385	0.09310	N	1	P	0.43885	0.82	B	0.34652	0.187	T	0.39781	-0.9597	10	0.10902	T	0.67	.	7.6056	0.28100	0.0:0.703:0.0:0.297	.	80	A6NH00	OR2T8_HUMAN	V	80	ENSP00000326225:A80V	ENSP00000326225:A80V	A	+	2	0	OR2T8	246151181	0.420000	0.25457	0.078000	0.20375	0.102000	0.19082	4.689000	0.61723	0.810000	0.34279	0.603000	0.83216	GCG		0.577	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		5	87	0	0	0	1	0	5	87				
SCN4A	6329	broad.mit.edu	37	17	62045515	62045515	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr17:62045515C>T	ENST00000435607.1	-	6	980	c.904G>A	c.(904-906)Ggc>Agc	p.G302S	SCN4A_ENST00000578147.1_Missense_Mutation_p.G302S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	302					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTGTCATTGCCGTACCACGTG	0.552																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(904-906)Ggc>Agc		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						292.0	286.0	288.0					17																	62045515		2178	4279	6457	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62045515C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.904G>A	17.37:g.62045515C>T	ENSP00000396320:p.Gly302Ser					SCN4A_ENST00000578147.1_Missense_Mutation_p.G302S	p.G302S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			6	980	-			302					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.904G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	9.947	1.219059	0.22373	.	.	ENSG00000007314	ENST00000435607	D	0.95885	-3.84	4.26	-1.8	0.07907	Ion transport (1);	1.672550	0.02443	N	0.084790	D	0.88862	0.6552	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.80074	-0.1534	10	0.14656	T	0.56	.	4.7766	0.13182	0.1419:0.5153:0.0:0.3428	.	302	P35499	SCN4A_HUMAN	S	302	ENSP00000396320:G302S	ENSP00000396320:G302S	G	-	1	0	SCN4A	59399247	0.000000	0.05858	0.007000	0.13788	0.008000	0.06430	-1.141000	0.03207	-0.056000	0.13221	0.563000	0.77884	GGC		0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		7	145	0	0	0	1	0	7	145				
TNXB	7148	broad.mit.edu	37	6	32063700	32063700	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr6:32063700C>T	ENST00000479795.1	-	3	2070	c.1930G>A	c.(1930-1932)Ggc>Agc	p.G644S	TNXB_ENST00000375247.2_Missense_Mutation_p.G644S|TNXB_ENST00000375244.3_Missense_Mutation_p.G644S			P22105	TENX_HUMAN	tenascin XB	644	EGF-like 16. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGGTAGGGCCGGTGTAGCCT	0.687																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(1930-1932)Ggc>Agc		tenascin XB							16.0	18.0	17.0					6																	32063700		2119	4216	6335	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.chr6:32063700C>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	ENST00000479795.1:c.1930G>A	6.37:g.32063700C>T	ENSP00000418248:p.Gly644Ser					TNXB_ENST00000375247.2_Missense_Mutation_p.G644S|TNXB_ENST00000479795.1_Missense_Mutation_p.G644S	p.G644S			P22105	TENX_HUMAN			3	2131	-			644			EGF-like 16.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.1930G>A		.	.	.	.	.	.	.	.	.	.	C	14.90	2.673033	0.47781	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;D	0.85013	1.81;1.81;-1.93	4.25	4.25	0.50352	.	0.000000	0.43416	D	0.000580	D	0.92773	0.7702	M	0.91561	3.22	0.40214	D	0.977668	D	0.89917	1.0	D	0.97110	1.0	D	0.93982	0.7259	10	0.59425	D	0.04	.	15.6045	0.76652	0.0:1.0:0.0:0.0	.	644	P22105-3	.	S	644	ENSP00000364393:G644S;ENSP00000364396:G644S;ENSP00000418248:G644S	ENSP00000364393:G644S	G	-	1	0	TNXB	32171678	.	.	0.189000	0.23252	0.058000	0.15608	.	.	2.198000	0.70561	0.563000	0.77884	GGC		0.687	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		8	11	0	0	0	1	0	8	11				
DGKB	1607	broad.mit.edu	37	7	14647098	14647098	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr7:14647098C>T	ENST00000403951.2	-	17	1816	c.1397G>A	c.(1396-1398)cGt>cAt	p.R466H	DGKB_ENST00000399322.3_Missense_Mutation_p.R466H|DGKB_ENST00000407950.1_Missense_Mutation_p.R458H|DGKB_ENST00000402815.1_Missense_Mutation_p.R465H|DGKB_ENST00000444700.2_Missense_Mutation_p.R447H|DGKB_ENST00000406247.3_Missense_Mutation_p.R466H|DGKB_ENST00000258767.5_Missense_Mutation_p.R466H|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	466	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GTAAACCTGACGAGGATTTAA	0.279																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1396-1398)cGt>cAt		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						52.0	49.0	50.0					7																	14647098		1787	4052	5839	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14647098C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1397G>A	7.37:g.14647098C>T	ENSP00000385780:p.Arg466His					DGKB_ENST00000444700.2_Missense_Mutation_p.R447H|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.R458H|DGKB_ENST00000406247.3_Missense_Mutation_p.R466H|DGKB_ENST00000399322.3_Missense_Mutation_p.R466H|DGKB_ENST00000402815.1_Missense_Mutation_p.R465H|DGKB_ENST00000258767.5_Missense_Mutation_p.R466H	p.R466H			Q9Y6T7	DGKB_HUMAN			17	1816	-			466			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.1397G>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.971024	0.92919	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.6	5.6	0.85130	Diacylglycerol kinase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.67397	2.05	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	0.989;0.909;0.997;1.0	T	0.64449	-0.6405	10	0.54805	T	0.06	.	19.9698	0.97280	0.0:1.0:0.0:0.0	.	465;447;466;466	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	H	466;466;466;465;458;447;466	ENSP00000385780:R466H;ENSP00000382260:R466H;ENSP00000258767:R466H;ENSP00000384909:R465H;ENSP00000385031:R458H;ENSP00000388451:R447H;ENSP00000386066:R466H	ENSP00000258767:R466H	R	-	2	0	DGKB	14613623	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.626000	0.74253	2.786000	0.95864	0.561000	0.74099	CGT		0.279	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		5	26	0	0	0	1	0	5	26				
TRIO	7204	broad.mit.edu	37	5	14359623	14359623	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr5:14359623G>A	ENST00000344204.4	+	13	2398	c.2374G>A	c.(2374-2376)Gag>Aag	p.E792K	TRIO_ENST00000537187.1_Missense_Mutation_p.E792K|TRIO_ENST00000509967.2_Missense_Mutation_p.E743K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	792					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCGCATCTTCGAGAGGGACGC	0.662																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(2374-2376)Gag>Aag		trio Rho guanine nucleotide exchange factor							60.0	51.0	54.0					5																	14359623		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14359623G>A	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2374G>A	5.37:g.14359623G>A	ENSP00000339299:p.Glu792Lys					TRIO_ENST00000537187.1_Missense_Mutation_p.E792K|TRIO_ENST00000509967.2_Missense_Mutation_p.E743K	p.E792K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			13	2398	+	Lung NSC(4;0.000742)		792					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.2374G>A	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617076	0.87359	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.52754	0.65;0.65;0.65	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.67401	0.2889	M	0.64170	1.965	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;P;D	0.80764	0.994;0.843;0.972	T	0.69771	-0.5055	10	0.62326	D	0.03	.	18.6935	0.91592	0.0:0.0:1.0:0.0	.	743;792;792	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	K	792;792;743;479	ENSP00000339299:E792K;ENSP00000446348:E792K;ENSP00000445592:E743K	ENSP00000339299:E792K	E	+	1	0	TRIO	14412623	1.000000	0.71417	0.874000	0.34290	0.987000	0.75469	9.798000	0.99111	2.489000	0.83994	0.650000	0.86243	GAG		0.662	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		10	53	0	0	0	1	0	10	53				
FAM217B	63939	broad.mit.edu	37	20	58519366	58519366	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr20:58519366A>G	ENST00000358293.3	+	5	783	c.368A>G	c.(367-369)gAt>gGt	p.D123G	FAM217B_ENST00000469084.1_Intron|FAM217B_ENST00000360816.3_Missense_Mutation_p.D123G	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	123																	GAAGAAATTGATCCAGTTTAC	0.458																																						ENST00000358293.3																			0											c.(367-369)gAt>gGt		family with sequence similarity 217, member B							80.0	81.0	81.0					20																	58519366		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58519366A>G	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.368A>G	20.37:g.58519366A>G	ENSP00000351040:p.Asp123Gly					FAM217B_ENST00000360816.3_Missense_Mutation_p.D123G|FAM217B_ENST00000469084.1_Intron	p.D123G	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN			5	783	+			123					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.368A>G	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.189124	0.78789	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.34472	1.36;1.36	5.66	5.66	0.87406	.	0.145674	0.43579	D	0.000548	T	0.53850	0.1822	M	0.65498	2.005	0.43734	D	0.996222	D	0.63046	0.992	P	0.56865	0.808	T	0.58020	-0.7710	10	0.72032	D	0.01	-14.7846	15.8982	0.79350	1.0:0.0:0.0:0.0	.	123	Q9NTX9	CT177_HUMAN	G	123	ENSP00000351040:D123G;ENSP00000354056:D123G	ENSP00000351040:D123G	D	+	2	0	C20orf177	57952761	1.000000	0.71417	0.176000	0.23000	0.962000	0.63368	5.586000	0.67503	2.140000	0.66376	0.533000	0.62120	GAT		0.458	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		27	46	0	0	0	1	0	27	46				
IRS1	3667	broad.mit.edu	37	2	227659846	227659846	+	Silent	SNP	T	T	G			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:227659846T>G	ENST00000305123.5	-	1	4629	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1203	Pro-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTGGGGGTGGGGGAGGCT	0.582																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3607-3609)ccA>ccC		insulin receptor substrate 1							30.0	40.0	37.0					2																	227659846		2202	4299	6501	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227659846T>G		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3609A>C	2.37:g.227659846T>G						IRS1_ENST00000498335.1_5'UTR	p.P1203P	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	4629	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1203			Pro-rich.			Silent	SNP	ENST00000305123.5	37	c.3609A>C	CCDS2463.1																																																																																				0.582	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		5	20	0	0	0	1	0	5	20				
FARP2	9855	broad.mit.edu	37	2	242373718	242373718	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:242373718G>A	ENST00000264042.3	+	10	1183	c.1013G>A	c.(1012-1014)gGc>gAc	p.G338D	FARP2_ENST00000545004.1_Missense_Mutation_p.G338D|FARP2_ENST00000373287.4_Missense_Mutation_p.G338D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	338					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TTCAGCCGGGGCTCCTCCTTC	0.463																																						ENST00000264042.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1012-1014)gGc>gAc		FERM, RhoGEF and pleckstrin domain protein 2							73.0	76.0	75.0					2																	242373718		2203	4300	6503	SO:0001583	missense	9855				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr2:242373718G>A	AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.1013G>A	2.37:g.242373718G>A	ENSP00000264042:p.Gly338Asp					FARP2_ENST00000545004.1_Missense_Mutation_p.G338D|FARP2_ENST00000373287.4_Missense_Mutation_p.G338D	p.G338D	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)	10	1183	+		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)	338					B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	ENST00000264042.3	37	c.1013G>A	CCDS33424.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942963	0.92526	.	.	ENSG00000006607	ENST00000264042;ENST00000545004;ENST00000373287;ENST00000413432	D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52	5.2	5.2	0.72013	FERM adjacent (FA) (1);	0.059909	0.64402	D	0.000003	D	0.99058	0.9677	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.99556	1.0967	10	0.87932	D	0	.	18.7354	0.91751	0.0:0.0:1.0:0.0	.	338;338;338	O94887-2;F5GZ84;O94887	.;.;FARP2_HUMAN	D	338;338;338;25	ENSP00000264042:G338D;ENSP00000443876:G338D;ENSP00000362384:G338D;ENSP00000412772:G25D	ENSP00000264042:G338D	G	+	2	0	FARP2	242022391	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.498000	0.97972	2.416000	0.81992	0.557000	0.71058	GGC		0.463	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323153.1			4	41	0	0	0	1	0	4	41				
RYR1	6261	broad.mit.edu	37	19	38968362	38968362	+	Missense_Mutation	SNP	G	G	A	rs200289457		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr19:38968362G>A	ENST00000359596.3	+	30	4306	c.4306G>A	c.(4306-4308)Gtg>Atg	p.V1436M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1436M|RYR1_ENST00000355481.4_Missense_Mutation_p.V1436M			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1436	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTATTACTCCGTGAGGGTCTT	0.587																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(4306-4308)Gtg>Atg		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						63.0	54.0	57.0					19																	38968362		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38968362G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4306G>A	19.37:g.38968362G>A	ENSP00000352608:p.Val1436Met					RYR1_ENST00000360985.3_Missense_Mutation_p.V1436M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1436M	p.V1436M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		30	4437	+	all_cancers(60;7.91e-06)		1436			6 X approximate repeats.|B30.2/SPRY 3.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.4306G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141848	0.37825	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73469	-0.75;-0.75;-0.75	5.37	5.37	0.77165	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.090289	0.42548	U	0.000688	D	0.86760	0.6010	M	0.84326	2.69	0.42882	D	0.994177	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88681	0.3202	10	0.87932	D	0	.	14.7644	0.69629	0.0:0.0:0.8549:0.1451	.	1436;1436	P21817-2;P21817	.;RYR1_HUMAN	M	1436	ENSP00000352608:V1436M;ENSP00000347667:V1436M;ENSP00000354254:V1436M	ENSP00000347667:V1436M	V	+	1	0	RYR1	43660202	1.000000	0.71417	0.961000	0.40146	0.353000	0.29299	4.664000	0.61540	2.551000	0.86045	0.306000	0.20318	GTG		0.587	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			10	25	0	0	0	1	0	10	25				
MOV10L1	54456	broad.mit.edu	37	22	50555697	50555697	+	Silent	SNP	C	C	T	rs144983844		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr22:50555697C>T	ENST00000262794.5	+	9	1454	c.1371C>T	c.(1369-1371)cgC>cgT	p.R457R	MOV10L1_ENST00000540615.1_Silent_p.R437R|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Silent_p.R457R|MOV10L1_ENST00000395858.3_Silent_p.R457R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	457					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGCTGCGCGCGAACCATTTT	0.428																																						ENST00000262794.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(1369-1371)cgC>cgT		Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)		C	,,	1,4405	2.1+/-5.4	0,1,2202	81.0	77.0	78.0		1371,1311,1371	-2.0	0.2	22	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,	457/1166,437/1166,457/1212	50555697	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50555697C>T	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.1371C>T	22.37:g.50555697C>T						MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.R457R|MOV10L1_ENST00000545383.1_Silent_p.R457R|MOV10L1_ENST00000540615.1_Silent_p.R437R	p.R457R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	9	1454	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	457					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Silent	SNP	ENST00000262794.5	37	c.1371C>T	CCDS14084.1																																																																																				0.428	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995		18	67	0	0	0	1	0	18	67				
OR8I2	120586	broad.mit.edu	37	11	55861284	55861284	+	Silent	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr11:55861284G>A	ENST00000302124.2	+	1	532	c.501G>A	c.(499-501)gcG>gcA	p.A167A		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCAGTTTGGCGTTCTGTGATT	0.443																																						ENST00000302124.2																			0				NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53						c.(499-501)gcG>gcA		olfactory receptor, family 8, subfamily I, member 2							165.0	154.0	158.0					11																	55861284		2201	4296	6497	SO:0001819	synonymous_variant	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861284G>A	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.501G>A	11.37:g.55861284G>A						OR8I2_ENST00000560768.1_Silent_p.A167A	p.A167A			Q8N0Y5	OR8I2_HUMAN			1	532	+	Esophageal squamous(21;0.00693)		167					B2RNN4|Q6IFC0|Q96RC5	Silent	SNP	ENST00000302124.2	37	c.501G>A	CCDS31517.1																																																																																				0.443	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		4	119	0	0	0	1	0	4	119				
ARSE	415	broad.mit.edu	37	X	2856153	2856153	+	Silent	SNP	G	G	A	rs377070602		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chrX:2856153G>A	ENST00000381134.3	-	9	1338	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	ARSE_ENST00000545496.1_Silent_p.G449G|ARSE_ENST00000540563.1_Silent_p.G379G	NM_000047.2	NP_000038.2	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	424			G -> S (in dbSNP:rs35143646). {ECO:0000269|Ref.2}.		cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGGCACCTCGCCGCCCGCCA	0.597																																						ENST00000545496.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1345-1347)ggC>ggT		arylsulfatase E (chondrodysplasia punctata 1)							52.0	55.0	54.0					X																	2856153		2199	4290	6489	SO:0001819	synonymous_variant	415				skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	g.chrX:2856153G>A	X83573	CCDS14122.1, CCDS75948.1, CCDS75949.1	Xp22.33	2013-02-14			ENSG00000157399	ENSG00000157399		"""Arylsulfatase family"""	719	protein-coding gene	gene with protein product		300180		CDPX, CDPX1		7720070	Standard	NM_000047		Approved		uc004crc.4	P51690	OTTHUMG00000137358	ENST00000381134.3:c.1272C>T	X.37:g.2856153G>A						ARSE_ENST00000540563.1_Silent_p.G379G|ARSE_ENST00000381134.3_Silent_p.G424G	p.G449G			P51690	ARSE_HUMAN			10	1638	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	424					Q53FT2|Q53FU8	Silent	SNP	ENST00000381134.3	37	c.1347C>T	CCDS14122.1																																																																																				0.597	ARSE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055643.1	NM_000047		3	39	0	0	0	1	0	3	39				
MOGAT2	80168	broad.mit.edu	37	11	75438518	75438518	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr11:75438518C>A	ENST00000198801.5	+	3	379	c.309C>A	c.(307-309)taC>taA	p.Y103*	MOGAT2_ENST00000526712.1_Nonsense_Mutation_p.Y21*	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	103					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CTCGGAACTACATTGCGGGCT	0.632																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(61-63)taC>taA		monoacylglycerol O-acyltransferase 2							63.0	62.0	63.0					11																	75438518		2200	4293	6493	SO:0001587	stop_gained	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75438518C>A	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.309C>A	11.37:g.75438518C>A	ENSP00000198801:p.Tyr103*					MOGAT2_ENST00000198801.5_Nonsense_Mutation_p.Y103*	p.Y21*			Q3SYC2	MOGT2_HUMAN			2	836	+	Ovarian(111;0.103)		103					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Nonsense_Mutation	SNP	ENST00000198801.5	37	c.63C>A	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	41	8.924361	0.99004	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	.	.	.	5.93	-2.17	0.07059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-39.5305	12.4411	0.55625	0.0:0.4217:0.0:0.5783	.	.	.	.	X	103;21	.	ENSP00000198801:Y103X	Y	+	3	2	MOGAT2	75116166	0.059000	0.20769	0.051000	0.19133	0.877000	0.50540	0.416000	0.21198	-0.254000	0.09500	-0.126000	0.14955	TAC		0.632	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		3	33	1	0	0.115264	1	0.115264	3	33				
IGHV1-58	28464	broad.mit.edu	37	14	107078510	107078510	+	RNA	SNP	C	C	T	rs370108530		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr14:107078510C>T	ENST00000390628.2	-	0	274									immunoglobulin heavy variable 1-58																		CCACTGCCAACGACGATCCAT	0.532																																						ENST00000390628.2																			0																				116.0	124.0	121.0					14																	107078510		2074	4199	6273			0							g.chr14:107078510C>T	M29809		14q32.33	2012-02-08			ENSG00000211968	ENSG00000211968		"""Immunoglobulins / IGH locus"""	5555	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151953		14.37:g.107078510C>T														0	274	-									RNA	SNP	ENST00000390628.2	37																																																																																						0.532	IGHV1-58-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324599.1	NG_001019		25	90	0	0	0	1	0	25	90				
TPR	7175	broad.mit.edu	37	1	186304579	186304579	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr1:186304579G>A	ENST00000367478.4	-	34	5098	c.4802C>T	c.(4801-4803)gCg>gTg	p.A1601V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1601					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.A1602V(1)|p.A1601V(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGACTTTAGCGCAGTAATGCG	0.423			T	NTRK1	papillary thyroid																																	ENST00000367478.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)	p.A1602V(1)|p.A1601V(1)	urinary_tract(2)	autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(4801-4803)gCg>gTg		translocated promoter region, nuclear basket protein							173.0	153.0	159.0					1																	186304579		1878	4116	5994	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186304579G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4802C>T	1.37:g.186304579G>A	ENSP00000356448:p.Ala1601Val						p.A1601V	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	34	5098	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1601					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.4802C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	30	5.052035	0.93793	.	.	ENSG00000047410	ENST00000367478	T	0.27402	1.67	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.57844	0.2081	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.55711	-0.8098	10	0.33940	T	0.23	.	18.9661	0.92697	0.0:0.0:1.0:0.0	.	1601	P12270	TPR_HUMAN	V	1601	ENSP00000356448:A1601V	ENSP00000356448:A1601V	A	-	2	0	TPR	184571202	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.065000	0.93941	2.545000	0.85829	0.650000	0.86243	GCG		0.423	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		7	109	0	0	0	1	0	7	109				
TNC	3371	broad.mit.edu	37	9	117849182	117849182	+	Silent	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr9:117849182G>A	ENST00000350763.4	-	3	1239	c.828C>T	c.(826-828)ggC>ggT	p.G276G	TNC_ENST00000423613.2_Silent_p.G276G|TNC_ENST00000542877.1_Silent_p.G276G|TNC_ENST00000535648.1_Silent_p.G276G|TNC_ENST00000537320.1_Silent_p.G276G|TNC_ENST00000341037.4_Silent_p.G276G|TNC_ENST00000345230.3_Silent_p.G276G|TNC_ENST00000340094.3_Silent_p.G276G|TNC_ENST00000346706.3_Silent_p.G276G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	276	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGCAGTCATCGCCTGCAAAGC	0.567																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(826-828)ggC>ggT		tenascin C																																				SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849182G>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.828C>T	9.37:g.117849182G>A						TNC_ENST00000346706.3_Silent_p.G276G|TNC_ENST00000542877.1_Silent_p.G276G|TNC_ENST00000341037.4_Silent_p.G276G|TNC_ENST00000423613.2_Silent_p.G276G|TNC_ENST00000340094.3_Silent_p.G276G|TNC_ENST00000537320.1_Silent_p.G276G|TNC_ENST00000345230.3_Silent_p.G276G|TNC_ENST00000535648.1_Silent_p.G276G	p.G276G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN			3	1239	-			276			EGF-like 4.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.828C>T	CCDS6811.1																																																																																				0.567	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		7	60	0	0	0	1	0	7	60				
MYH4	4622	broad.mit.edu	37	17	10369613	10369613	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr17:10369613G>A	ENST00000255381.2	-	4	435	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	109	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGCGTAACGCTCTTTGAGG	0.458																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(325-327)Cgt>Tgt		myosin, heavy chain 4, skeletal muscle							266.0	222.0	237.0					17																	10369613		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369613G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.325C>T	17.37:g.10369613G>A	ENSP00000255381:p.Arg109Cys					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.R109C	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			4	435	-			109			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.325C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472887	0.84640	.	.	ENSG00000141048;ENSG00000125414	ENST00000255381;ENST00000532288	D	0.84944	-1.92	4.85	3.88	0.44766	Myosin head, motor domain (2);	0.195388	0.24915	N	0.034593	D	0.96445	0.8840	H	0.99973	5.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97314	0.9939	10	0.87932	D	0	.	13.3899	0.60818	0.0763:0.0:0.9237:0.0	.	109	Q9Y623	MYH4_HUMAN	C	109	ENSP00000255381:R109C	ENSP00000431873:R109C	R	-	1	0	MYH2;MYH4	10310338	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.529000	0.81952	1.397000	0.46682	0.650000	0.86243	CGT		0.458	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		3	56	0	0	0	1	0	3	56				
DNM1P47	100216544	broad.mit.edu	37	15	102292811	102292811	+	RNA	SNP	C	C	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr15:102292811C>A	ENST00000561463.1	+	0	857									DNM1 pseudogene 47									p.R133R(1)									CCTGCACTCGCGTGGGAACGA	0.607																																						ENST00000561463.1																			1	Substitution - coding silent(1)	p.R133R(1)	prostate(1)																																																0							g.chr15:102292811C>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292811C>A														0	857	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.607	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	20	1	0	0.000602214	1	0.000636627	4	20				
GLIS1	148979	broad.mit.edu	37	1	53995493	53995493	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr1:53995493C>T	ENST00000312233.2	-	4	1494	c.928G>A	c.(928-930)Gcc>Acc	p.A310T		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TGGTGCTTGGCGCGGTCGCTG	0.647																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(928-930)Gcc>Acc		GLIS family zinc finger 1							84.0	85.0	84.0					1																	53995493		2203	4300	6503	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53995493C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.928G>A	1.37:g.53995493C>T	ENSP00000309653:p.Ala310Thr						p.A310T	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			4	1494	-			310						Missense_Mutation	SNP	ENST00000312233.2	37	c.928G>A	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	36	5.641909	0.96704	.	.	ENSG00000174332	ENST00000312233	T	0.36157	1.27	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000231	T	0.27098	0.0664	N	0.13043	0.29	0.80722	D	1	D	0.67145	0.996	B	0.43082	0.407	T	0.21280	-1.0250	10	0.62326	D	0.03	.	17.7575	0.88453	0.0:1.0:0.0:0.0	.	310	Q8NBF1	GLIS1_HUMAN	T	310	ENSP00000309653:A310T	ENSP00000309653:A310T	A	-	1	0	GLIS1	53768081	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.776000	0.85560	2.271000	0.75665	0.491000	0.48974	GCC		0.647	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		3	64	0	0	0	1	0	3	64				
PRPF40B	25766	broad.mit.edu	37	12	50025308	50025308	+	Missense_Mutation	SNP	C	C	T	rs149751647		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr12:50025308C>T	ENST00000380281.1	+	2	207	c.143C>T	c.(142-144)gCg>gTg	p.A48V	PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V|PRPF40B_ENST00000261897.1_Missense_Mutation_p.A42V			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	48	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCAATGGGGGCGCCACCACCA	0.612																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(124-126)gCg>gTg		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	64.0	68.0	67.0		143,125	4.5	1.0	12	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PRPF40B	NM_001031698.1,NM_012272.1	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	48/872,42/859	50025308	1,13005	2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50025308C>T	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.143C>T	12.37:g.50025308C>T	ENSP00000369634:p.Ala48Val					PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V|PRPF40B_ENST00000380281.1_Missense_Mutation_p.A48V	p.A42V			Q6NWY9	PR40B_HUMAN			2	676	+			48			Pro-rich.		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.125C>T		.	.	.	.	.	.	.	.	.	.	C	12.03	1.814713	0.32053	0.0	1.16E-4	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.23754	1.92;1.9;1.89	5.41	4.47	0.54385	.	0.107089	0.39341	N	0.001388	T	0.13457	0.0326	N	0.22421	0.69	0.42471	D	0.992827	P;P;P	0.42871	0.688;0.792;0.792	B;B;B	0.31337	0.06;0.128;0.128	T	0.06162	-1.0842	9	.	.	.	-11.7007	11.7512	0.51849	0.0:0.6945:0.3055:0.0	.	48;42;48	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	V	70;42;48	ENSP00000448073:A70V;ENSP00000261897:A42V;ENSP00000369634:A48V	.	A	+	2	0	PRPF40B	48311575	0.999000	0.42202	0.994000	0.49952	0.993000	0.82548	3.523000	0.53488	2.699000	0.92147	0.655000	0.94253	GCG		0.612	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		14	50	0	0	0	1	0	14	50				
IVD	3712	broad.mit.edu	37	15	40707600	40707600	+	Splice_Site	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr15:40707600G>A	ENST00000249760.2	+	9	1222	c.879G>A	c.(877-879)ggG>ggA	p.G293G	IVD_ENST00000487418.2_Splice_Site_p.G296G|IVD_ENST00000479013.2_Splice_Site_p.G266G	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	293					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	flavin adenine dinucleotide binding (GO:0050660)|isovaleryl-CoA dehydrogenase activity (GO:0008470)			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	Flavin adenine dinucleotide(DB03147)	TTTCTGACAGGCTCATGCAAG	0.602																																					GBM(31;293 617 7486 32527 34655)	ENST00000249760.2																			0				kidney(1)|lung(5)|ovary(2)|prostate(1)	9						c.e9-1		isovaleryl-CoA dehydrogenase							70.0	58.0	62.0					15																	40707600		2203	4300	6503	SO:0001630	splice_region_variant	3712				leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	g.chr15:40707600G>A	AF038317	CCDS10057.1, CCDS10057.2, CCDS53930.1	15q14-q15	2010-05-11	2010-05-11		ENSG00000128928	ENSG00000128928	1.3.99.10		6186	protein-coding gene	gene with protein product		607036	"""isovaleryl Coenzyme A dehydrogenase"", ""isovaleryl CoA dehydrogenase"""			2063866	Standard	NM_002225		Approved	ACAD2	uc001zls.3	P26440	OTTHUMG00000129984	ENST00000249760.2:c.879-1G>A	15.37:g.40707600G>A						IVD_ENST00000487418.2_Splice_Site_p.G296_splice|IVD_ENST00000479013.2_Splice_Site_p.G266_splice	p.G293_splice	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)	9	1222	+		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	293					B2RCV5|B3KVI7|J3KR54|Q53XZ9|Q96AF6	Splice_Site	SNP	ENST00000249760.2	37	c.878_splice		.	.	.	.	.	.	.	.	.	.	G	19.30	3.801048	0.70567	.	.	ENSG00000128928	ENST00000473112	D	0.97688	-4.49	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.98232	0.9415	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.98900	1.0776	7	0.87932	D	0	.	14.7125	0.69244	0.0:0.1447:0.8553:0.0	.	.	.	.	D	213	ENSP00000417256:G213D	ENSP00000417256:G213D	G	+	2	0	IVD	38494892	0.995000	0.38212	0.963000	0.40424	0.261000	0.26267	1.837000	0.39201	2.520000	0.84964	0.467000	0.42956	GGC		0.602	IVD-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			Silent	3	28	0	0	0	1	0	3	28				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM056413|CM920678	TP53	M	rs28934574	c.(844-846)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577094G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	282		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.844C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	11	0	0	0	1	0	4	11				
PCDHGA1	56114	broad.mit.edu	37	5	140712483	140712483	+	Silent	SNP	C	C	T	rs553517087		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr5:140712483C>T	ENST00000517417.1	+	1	2232	c.2232C>T	c.(2230-2232)gaC>gaT	p.D744D	PCDHGA1_ENST00000378105.3_Silent_p.D744D	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	744					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D744D(3)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCGTGGACGGGGTTCGGG	0.637																																						ENST00000517417.1																			3	Substitution - coding silent(3)	p.D744D(3)	large_intestine(3)	breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78						c.(2230-2232)gaC>gaT									71.0	75.0	74.0					5																	140712483		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140712483C>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.2232C>T	5.37:g.140712483C>T						PCDHGA1_ENST00000378105.3_Silent_p.D744D	p.D744D	NM_018912.2	NP_061735.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2232	+								Q2M273|Q9Y5D6	Silent	SNP	ENST00000517417.1	37	c.2232C>T	CCDS54922.1																																																																																				0.637	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		24	86	0	0	0	1	0	24	86				
TBC1D2B	23102	broad.mit.edu	37	15	78290635	78290635	+	Missense_Mutation	SNP	C	C	T	rs200408968		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr15:78290635C>T	ENST00000300584.3	-	13	2758	c.2759G>A	c.(2758-2760)cGa>cAa	p.R920Q	TBC1D2B_ENST00000409931.3_Missense_Mutation_p.D903N|TBC1D2B_ENST00000492078.1_5'UTR	NM_015079.5|NM_144572.1	NP_055894.6|NP_653173.1	Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	920							Rab GTPase activator activity (GO:0005097)	p.D903N(3)|p.R920Q(1)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTAGGCGCGTCGGTTCCGGAT	0.617																																						ENST00000409931.3																			4	Substitution - Missense(4)	p.D903N(3)|p.R920Q(1)	cervix(2)|upper_aerodigestive_tract(1)|ovary(1)	breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						c.(2707-2709)Gac>Aac		TBC1 domain family, member 2B							39.0	33.0	35.0					15																	78290635		2196	4291	6487	SO:0001583	missense	23102					intracellular	protein binding|Rab GTPase activator activity	g.chr15:78290635C>T	AB028978	CCDS32301.2, CCDS45314.1	15q24.3-q25.1	2005-11-29			ENSG00000167202	ENSG00000167202			29183	protein-coding gene	gene with protein product						10470851	Standard	NM_015079		Approved	KIAA1055	uc002bcy.4	Q9UPU7	OTTHUMG00000152885	ENST00000300584.3:c.2759G>A	15.37:g.78290635C>T	ENSP00000300584:p.Arg920Gln					TBC1D2B_ENST00000300584.3_Missense_Mutation_p.R920Q|TBC1D2B_ENST00000492078.1_5'UTR	p.D903N			Q9UPU7	TBD2B_HUMAN			13	2778	-			0					A7MD42|Q8N1F9|Q9NXM0	Missense_Mutation	SNP	ENST00000300584.3	37	c.2707G>A	CCDS45314.1	88|88	0.040293040293040296|0.040293040293040296	2|2	0.0040650406504065045|0.0040650406504065045	10|10	0.027624309392265192|0.027624309392265192	8|8	0.013986013986013986|0.013986013986013986	68|68	0.08970976253298153|0.08970976253298153	c|c	22.6|22.6	4.311579|4.311579	0.81358|0.81358	.|.	.|.	ENSG00000167202|ENSG00000167202	ENST00000418039;ENST00000409931|ENST00000300584	T|T	0.11712|0.09445	2.75|2.98	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	0.787190|.	0.11177|.	N|.	0.591392|.	T|T	0.00608|0.00608	0.0020|0.0020	.|.	.|.	.|.	0.26703|0.26703	N|N	0.971136|0.971136	B|D	0.30193|0.57257	0.272|0.979	B|P	0.18561|0.51833	0.022|0.681	T|T	0.06807|0.06807	-1.0806|-1.0806	9|8	0.02654|0.23891	T|T	1|0.37	.|.	16.1645|16.1645	0.81745|0.81745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	903|920	Q9UPU7-2|Q9UPU7	.|TBD2B_HUMAN	N|Q	802;903|920	ENSP00000387165:D903N|ENSP00000300584:R920Q	ENSP00000387165:D903N|ENSP00000300584:R920Q	D|R	-|-	1|2	0|0	TBC1D2B|TBC1D2B	76077690|76077690	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.855000|0.855000	0.48748|0.48748	6.002000|6.002000	0.70693|0.70693	2.033000|2.033000	0.60031|0.60031	0.479000|0.479000	0.44913|0.44913	GAC|CGA		0.617	TBC1D2B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328369.3	NM_015079		3	9	0	0	0	1	0	3	9				
ABCA9	10350	broad.mit.edu	37	17	66980239	66980239	+	Missense_Mutation	SNP	G	G	A	rs375389452		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr17:66980239G>A	ENST00000340001.4	-	35	4668	c.4457C>T	c.(4456-4458)gCg>gTg	p.A1486V	ABCA9_ENST00000453985.2_Missense_Mutation_p.A1448V|ABCA9_ENST00000482072.1_5'Flank|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1486	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTCACACACCGCCTCAGCCTC	0.572																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4456-4458)gCg>gTg		ATP-binding cassette, sub-family A (ABC1), member 9		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	88.0	74.0	79.0		4457	4.9	0.9	17		79	0,8600		0,0,4300	no	missense	ABCA9	NM_080283.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1486/1625	66980239	1,13005	2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66980239G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4457C>T	17.37:g.66980239G>A	ENSP00000342216:p.Ala1486Val					ABCA9_ENST00000453985.2_Missense_Mutation_p.A1448V|ABCA9_ENST00000370732.2_3'UTR	p.A1486V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			35	4668	-	Breast(10;1.47e-12)		1486			ABC transporter 2.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.4457C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136693	0.94517	2.27E-4	0.0	ENSG00000154258	ENST00000340001;ENST00000453985	D	0.90563	-2.69	4.86	4.86	0.63082	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.359788	0.19902	N	0.103491	D	0.91192	0.7225	L	0.60067	1.865	0.80722	D	1	D	0.59767	0.986	P	0.48189	0.57	D	0.92492	0.6001	10	0.87932	D	0	.	17.3478	0.87314	0.0:0.0:1.0:0.0	.	1486	Q8IUA7	ABCA9_HUMAN	V	1486;1431	ENSP00000342216:A1486V	ENSP00000342216:A1486V	A	-	2	0	ABCA9	64491834	1.000000	0.71417	0.919000	0.36401	0.887000	0.51463	9.089000	0.94137	2.414000	0.81942	0.655000	0.94253	GCG		0.572	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		9	38	0	0	0	1	0	9	38				
DCHS2	54798	broad.mit.edu	37	4	155157233	155157233	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr4:155157233T>A	ENST00000357232.4	-	25	7205	c.7206A>T	c.(7204-7206)aaA>aaT	p.K2402N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2402	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTGCATCACCTTTGTCTTTGG	0.428																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(7204-7206)aaA>aaT		dachsous cadherin-related 2							86.0	82.0	83.0					4																	155157233		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157233T>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.7206A>T	4.37:g.155157233T>A	ENSP00000349768:p.Lys2402Asn						p.K2402N	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	7205	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2402			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.7206A>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.373099	0.42105	.	.	ENSG00000197410	ENST00000357232	T	0.51071	0.72	6.03	0.829	0.18847	Cadherin (4);Cadherin-like (1);	0.142973	0.48286	D	0.000197	T	0.47893	0.1470	L	0.35341	1.055	0.80722	D	1	D	0.69078	0.997	D	0.65443	0.935	T	0.30031	-0.9992	10	0.16420	T	0.52	.	9.6336	0.39793	0.0:0.2687:0.0:0.7313	.	2402	Q6V1P9	PCD23_HUMAN	N	2402	ENSP00000349768:K2402N	ENSP00000349768:K2402N	K	-	3	2	DCHS2	155376683	1.000000	0.71417	0.557000	0.28306	0.125000	0.20455	2.305000	0.43664	-0.063000	0.13065	0.533000	0.62120	AAA		0.428	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		6	95	0	0	0	1	0	6	95				
EMX1	2016	broad.mit.edu	37	2	73161021	73161021	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:73161021C>T	ENST00000258106.6	+	3	1189	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	238					brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|in utero embryonic development (GO:0001701)|neuron projection extension (GO:1990138)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(3)	6						TCACATCAACCGGTGGCGCAT	0.582																																						ENST00000258106.6																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(811-813)Cgg>Tgg		empty spiracles homeobox 1							71.0	82.0	79.0					2																	73161021		2127	4244	6371	SO:0001583	missense	2016					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:73161021C>T	X68879	CCDS1921.2	2p13.2	2011-06-20	2007-02-15		ENSG00000135638	ENSG00000135638		"""Homeoboxes / ANTP class : NKL subclass"""	3340	protein-coding gene	gene with protein product		600034	"""empty spiracles homolog 1 (Drosophila)"""			7959790	Standard	XM_005264203		Approved		uc002sin.1	Q04741	OTTHUMG00000129778	ENST00000258106.6:c.811C>T	2.37:g.73161021C>T	ENSP00000258106:p.Arg271Trp					EMX1_ENST00000394111.5_3'UTR	p.R271W	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN			3	1189	+			238					Q0D2P0|Q53T30|Q86XB0	Missense_Mutation	SNP	ENST00000258106.6	37	c.811C>T	CCDS1921.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952472	0.73787	.	.	ENSG00000135638	ENST00000258106	D	0.92595	-3.07	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000001	D	0.95626	0.8578	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.67548	0.952	D	0.96007	0.8998	10	0.87932	D	0	-22.4872	16.7711	0.85537	0.0:1.0:0.0:0.0	.	238	Q04741	EMX1_HUMAN	W	271	ENSP00000258106:R271W	ENSP00000258106:R271W	R	+	1	2	EMX1	73014529	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.652000	0.24888	2.635000	0.89317	0.484000	0.47621	CGG		0.582	EMX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251994.3			11	25	0	0	0	1	0	11	25				
INHBE	83729	broad.mit.edu	37	12	57849952	57849952	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr12:57849952G>A	ENST00000266646.2	+	2	590	c.374G>A	c.(373-375)cGc>cAc	p.R125H	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	125					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TACCATGCCCGCCTGTGGCTG	0.602											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)	ENST00000266646.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						c.(373-375)cGc>cAc		inhibin, beta E							139.0	140.0	140.0					12																	57849952		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57849952G>A		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.374G>A	12.37:g.57849952G>A	ENSP00000266646:p.Arg125His		OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1026	INHBE_ENST00000551553.1_3'UTR	p.R125H	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN			2	590	+			125						Missense_Mutation	SNP	ENST00000266646.2	37	c.374G>A	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	G	9.852	1.194025	0.22037	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.81908	-1.55;-0.12	4.37	4.37	0.52481	Transforming growth factor-beta, N-terminal (1);	0.192014	0.47093	D	0.000253	D	0.85796	0.5780	L	0.50919	1.6	0.26772	N	0.969788	D	0.76494	0.999	D	0.71414	0.973	T	0.76637	-0.2886	10	0.40728	T	0.16	-5.6135	8.397	0.32564	0.1052:0.0:0.8948:0.0	.	125	P58166	INHBE_HUMAN	H	70;125	ENSP00000450212:R70H;ENSP00000266646:R125H	ENSP00000266646:R125H	R	+	2	0	INHBE	56136219	0.995000	0.38212	0.999000	0.59377	0.373000	0.29922	2.820000	0.48057	2.424000	0.82194	0.561000	0.74099	CGC		0.602	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479		4	77	0	0	0	1	0	4	77				
ABCA7	10347	broad.mit.edu	37	19	1043361	1043361	+	Silent	SNP	C	C	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr19:1043361C>T	ENST00000263094.6	+	9	1050	c.819C>T	c.(817-819)gcC>gcT	p.A273A	ABCA7_ENST00000433129.1_Silent_p.A273A|ABCA7_ENST00000435683.2_Silent_p.A135A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	273					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATTGGAGCCCTGGACAGCC	0.642																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(817-819)gcC>gcT		ATP-binding cassette, sub-family A (ABC1), member 7							41.0	52.0	48.0					19																	1043361		2203	4299	6502	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043361C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.819C>T	19.37:g.1043361C>T						ABCA7_ENST00000433129.1_Silent_p.A273A|ABCA7_ENST00000435683.2_Silent_p.A135A	p.A273A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1050	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	273					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.819C>T	CCDS12055.1																																																																																				0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		12	37	0	0	0	1	0	12	37				
FAT3	120114	broad.mit.edu	37	11	92534952	92534952	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr11:92534952G>A	ENST00000298047.6	+	9	8790	c.8773G>A	c.(8773-8775)Gcg>Acg	p.A2925T	FAT3_ENST00000409404.2_Missense_Mutation_p.A2925T|FAT3_ENST00000525166.1_Missense_Mutation_p.A2775T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2925	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A2925T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCAGTCTTCGCGCAGGAAGT	0.562										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			2	Substitution - Missense(2)	p.A2925T(2)	large_intestine(2)	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8773-8775)Gcg>Acg		FAT atypical cadherin 3							101.0	99.0	99.0					11																	92534952		2026	4191	6217	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92534952G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8773G>A	11.37:g.92534952G>A	ENSP00000298047:p.Ala2925Thr	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.A2925T|FAT3_ENST00000525166.1_Missense_Mutation_p.A2775T	p.A2925T			Q8TDW7	FAT3_HUMAN			9	8790	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2925			Cadherin 27.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.8773G>A		.	.	.	.	.	.	.	.	.	.	G	0.900	-0.722570	0.03158	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01215	5.16;5.16;5.16	6.04	6.04	0.98038	.	.	.	.	.	T	0.00524	0.0017	N	0.01096	-1.015	0.80722	D	1	P	0.40681	0.727	B	0.29862	0.108	T	0.66582	-0.5887	9	0.02654	T	1	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	2925	Q8TDW7-3	.	T	2925;2925;2775	ENSP00000298047:A2925T;ENSP00000387040:A2925T;ENSP00000432586:A2775T	ENSP00000298047:A2925T	A	+	1	0	FAT3	92174600	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	2.154000	0.42291	2.873000	0.98535	0.563000	0.77884	GCG		0.562	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		4	77	0	0	0	1	0	4	77				
POLR1B	84172	broad.mit.edu	37	2	113300244	113300244	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:113300244T>A	ENST00000263331.5	+	1	753	c.173T>A	c.(172-174)gTg>gAg	p.V58E	POLR1B_ENST00000417433.2_Missense_Mutation_p.V58E|POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000541869.1_Missense_Mutation_p.V96E|POLR1B_ENST00000409894.3_Missense_Mutation_p.V58E	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	58					gene expression (GO:0010467)|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)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGCCTCGCGGTGCAGGTGAGC	0.677																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(172-174)gTg>gAg		polymerase (RNA) I polypeptide B, 128kDa							19.0	19.0	19.0					2																	113300244		2203	4298	6501	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113300244T>A	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.173T>A	2.37:g.113300244T>A	ENSP00000263331:p.Val58Glu					POLR1B_ENST00000541869.1_Missense_Mutation_p.V96E|POLR1B_ENST00000537335.1_5'UTR|POLR1B_ENST00000409894.3_Missense_Mutation_p.V58E|POLR1B_ENST00000417433.2_Missense_Mutation_p.V58E	p.V58E	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			1	753	+			58					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.173T>A	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	T	36	5.772581	0.96922	.	.	ENSG00000125630	ENST00000263331;ENST00000438748;ENST00000430769;ENST00000541869;ENST00000409894;ENST00000417433	T;T;T;T;T;T	0.78481	-0.34;-0.34;-0.34;-0.34;-0.34;-1.18	6.08	6.08	0.98989	RNA polymerase, beta subunit, protrusion (1);	0.113738	0.64402	D	0.000015	D	0.88760	0.6524	M	0.84219	2.685	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.997;1.0	D;D;D;D	0.80764	0.989;0.994;0.951;0.98	D	0.89944	0.4075	10	0.66056	D	0.02	-29.6556	15.6264	0.76863	0.0:0.0:0.0:1.0	.	96;58;58;58	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	E	58;58;58;96;58;58	ENSP00000263331:V58E;ENSP00000388577:V58E;ENSP00000415754:V58E;ENSP00000444136:V96E;ENSP00000387143:V58E;ENSP00000405358:V58E	ENSP00000263331:V58E	V	+	2	0	POLR1B	113016715	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.373000	0.66162	2.333000	0.79357	0.533000	0.62120	GTG		0.677	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		4	7	0	0	0	1	0	4	7				
ANKRD1	27063	broad.mit.edu	37	10	92677496	92677496	+	Missense_Mutation	SNP	C	C	A	rs530739375		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr10:92677496C>A	ENST00000371697.3	-	5	793	c.545G>T	c.(544-546)cGt>cTt	p.R182L		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	182					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TACCATATCACGGAATTCGAT	0.413																																						ENST00000371697.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27						c.(544-546)cGt>cTt		ankyrin repeat domain 1 (cardiac muscle)							81.0	75.0	77.0					10																	92677496		2203	4300	6503	SO:0001583	missense	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92677496C>A	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.545G>T	10.37:g.92677496C>A	ENSP00000360762:p.Arg182Leu						p.R182L	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN			5	793	-		Colorectal(252;0.0475)	182					Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	c.545G>T	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714545	0.68730	.	.	ENSG00000148677	ENST00000371697	T	0.66815	-0.23	5.51	4.59	0.56863	Ankyrin repeat-containing domain (4);	0.094727	0.42682	D	0.000673	T	0.67906	0.2943	L	0.52905	1.665	0.38480	D	0.947684	P	0.47545	0.897	P	0.53593	0.73	T	0.71991	-0.4425	10	0.72032	D	0.01	.	5.523	0.16943	0.0:0.7311:0.0:0.2689	.	182	Q15327	ANKR1_HUMAN	L	182	ENSP00000360762:R182L	ENSP00000360762:R182L	R	-	2	0	ANKRD1	92667476	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.058000	0.41374	2.743000	0.94032	0.585000	0.79938	CGT		0.413	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		10	21	1	0	7.48243e-07	1	8.14264e-07	10	21				
HSPA8	3312	broad.mit.edu	37	11	122930969	122930969	+	Missense_Mutation	SNP	G	G	T	rs141156763	byFrequency	TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr11:122930969G>T	ENST00000532636.1	-	4	538	c.419C>A	c.(418-420)aCc>aAc	p.T140N	SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Intron|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.T140N|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000227378.3_Missense_Mutation_p.T140N|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000534624.1_Missense_Mutation_p.T140N|HSPA8_ENST00000534319.1_5'UTR|SNORD14C_ENST00000365382.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	140					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACAGCATTGGTAACAGTCTA	0.393													G|||	2	0.000399361	0.0	0.0	5008	,	,		20306	0.0		0.002	False		,,,				2504	0.0				Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(418-420)aCc>aAc		heat shock 70kDa protein 8							60.0	59.0	59.0					11																	122930969		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930969G>T	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.419C>A	11.37:g.122930969G>T	ENSP00000437125:p.Thr140Asn					HSPA8_ENST00000526110.1_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.T140N|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000532636.1_Missense_Mutation_p.T140N|HSPA8_ENST00000453788.2_Missense_Mutation_p.T140N	p.T140N	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	4	695	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	140					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.419C>A	CCDS8440.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	14.31	2.498410	0.44455	.	.	ENSG00000109971	ENST00000532636;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000528292;ENST00000525463;ENST00000525624;ENST00000534567;ENST00000527387;ENST00000532182	T;T;T;T;T;T;T;T;T;T	0.01068	5.38;5.38;5.38;5.38;5.38;5.38;5.38;5.38;5.38;5.38	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.01695	0.0054	L	0.37750	1.13	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.12156	0.007;0.002;0.001;0.003	T	0.63395	-0.6647	10	0.37606	T	0.19	-14.785	18.3296	0.90264	0.0:0.0:1.0:0.0	.	140;140;140;140	B4DTX2;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	N	140;140;140;140;80;99;140;140;140;140	ENSP00000437125:T140N;ENSP00000432083:T140N;ENSP00000404372:T140N;ENSP00000227378:T140N;ENSP00000432884:T80N;ENSP00000436762:T99N;ENSP00000435154:T140N;ENSP00000431641:T140N;ENSP00000436183:T140N;ENSP00000434415:T140N	ENSP00000227378:T140N	T	-	2	0	HSPA8	122436179	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.800000	0.55537	2.369000	0.80426	0.561000	0.74099	ACC		0.393	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			8	77	1	0	0.0477658	1	0.0490926	8	77				
AC096649.3	0	broad.mit.edu	37	2	176190119	176190259	+	lincRNA	DEL	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	-	rs538185784|rs6729868|rs558558768|rs186801826|rs66540730|rs576825072|rs556396380|rs377343814	byFrequency	TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT	ENST00000438963.1	+	0	247																											gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa	0.44																																						ENST00000438963.1																			0																																																			0							g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT																													2.37:g.176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT														0	247	+									RNA	DEL	ENST00000438963.1	37																																																																																						0.440	AC096649.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000334503.1			20	98						20	98	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121207488	121207489	+	Frame_Shift_Ins	INS	-	-	A	rs377402875		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr3:121207488_121207489insA	ENST00000264233.5	-	16	4417_4418	c.4289_4290insT	c.(4288-4290)ttafs	p.L1430fs		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1430					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CATTCTTTTTTAAAAAAAGACC	0.342								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(4288-4290)taafs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta																																				SO:0001589	frameshift_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207488_121207489insA	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4290dupT	3.37:g.121207495_121207495dupA	ENSP00000264233:p.Leu1430fs						p.*1430fs	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	4417_4418	-			1430					O95160|Q6VMB5	Frame_Shift_Ins	INS	ENST00000264233.5	37	c.4289_4290insT	CCDS33833.1																																																																																				0.342	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		12	58						12	58	---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145849150	145849151	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr5:145849150_145849151insCC	ENST00000296702.5	+	7	1280_1281	c.1242_1243insCC	c.(1243-1245)cccfs	p.P415fs	TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.P394fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	415					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATGATACATCCCCAGGTTGC	0.386																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1240-1245)cacccafs		transcription elongation regulator 1																																				SO:0001589	frameshift_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145849150_145849151insCC	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1245_1246dupCC	5.37:g.145849153_145849154dupCC	ENSP00000296702:p.Pro415fs					TCERG1_ENST00000394421.2_Frame_Shift_Ins_p.HP393fs	p.HP414fs	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1280_1281	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	414					Q2NKN2|Q59EA1	Frame_Shift_Ins	INS	ENST00000296702.5	37	c.1242_1243insCC	CCDS4282.1																																																																																				0.386	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		54	156						54	156	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	lincRNA	INS	-	-	G	rs140221514|rs61118356		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728																																						ENST00000412295.2																			0																																																			0							g.chr5:180708776_180708777insG																													5.37:g.180708781_180708781dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.728	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			5	3						5	3	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-	rs370394378		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6679301_6679302delCA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6679311_6679312delCA										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	958	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.401	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		2	4						2	4	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Splice_Site	INS	-	-	G	rs60117710|rs374779752|rs200041551		TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000546111.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		CGGAGGCCGTAGTTTATTGTGG	0.569													GG|G|GG|deletion	5008	1.0	1.0	1.0	5008	,	,		18008	1.0		1.0	False		,,,				2504	1.0					ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3732,16		1865,2,7						3.0	1.0		dbSNP_129	28	7880,30		3934,12,9	no	frameshift	EMG1	NM_006331.7		5799,14,16	A1A1,A1R,RR		0.3793,0.4269,0.3946				11612,46				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080210_7080211insG	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->G	12.37:g.7080211_7080211dupG						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	155_156	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Intron	6	9						6	9	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42605693	42605694	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VP-A872-01A-11D-A34U-08	TCGA-VP-A872-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a653276f-248d-4ffc-9198-d713cdcee5bd	b941d9f4-c0bf-4f8c-8360-2d69964f2e8a	g.chr22:42605693_42605694insT	ENST00000359486.3	-	1	5754_5755	c.5618_5619insA	c.(5617-5619)tatfs	p.Y1873fs	TCF20_ENST00000404876.1_Frame_Shift_Ins_p.Y174fs|TCF20_ENST00000335626.4_Frame_Shift_Ins_p.Y1873fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1873					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CCTGCAGGCCATAGAGCCTGCC	0.446																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(5617-5619)tggfs		transcription factor 20 (AR1)																																				SO:0001589	frameshift_variant	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42605693_42605694insT	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5619dupA	22.37:g.42605694_42605694dupT	ENSP00000352463:p.Tyr1873fs					TCF20_ENST00000404876.1_Frame_Shift_Ins_p.W174fs|TCF20_ENST00000335626.4_Frame_Shift_Ins_p.W1873fs	p.W1873fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	5754_5755	-			1873					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Ins	INS	ENST00000359486.3	37	c.5618_5619insA	CCDS14033.1																																																																																				0.446	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		8	195						8	195	---	---	---	---
