#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
ANK1	286	broad.mit.edu	37	8	41552808	41552808	+	Missense_Mutation	SNP	C	C	T	rs144724635		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:41552808C>T	ENST00000347528.4	-	27	3085	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H	ANK1_ENST00000265709.8_Missense_Mutation_p.R1042H|ANK1_ENST00000379758.2_Missense_Mutation_p.R1001H|ANK1_ENST00000352337.4_Missense_Mutation_p.R1001H|ANK1_ENST00000289734.7_Missense_Mutation_p.R1001H|ANK1_ENST00000396942.1_Missense_Mutation_p.R1001H|ANK1_ENST00000396945.1_Missense_Mutation_p.R1001H	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1001	ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGGTCTCCACGGCCATGGGA	0.607																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(3001-3003)cGt>cAt		ankyrin 1, erythrocytic		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	105.0	92.0	97.0		3002,3125,3002,3002,3002	5.0	1.0	8	dbSNP_134	97	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	1001/1881,1042/1898,1001/1857,1001/1882,1001/1720	41552808	1,13005	2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41552808C>T	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3002G>A	8.37:g.41552808C>T	ENSP00000339620:p.Arg1001His					ANK1_ENST00000379758.2_Missense_Mutation_p.R1001H|ANK1_ENST00000396945.1_Missense_Mutation_p.R1001H|ANK1_ENST00000289734.7_Missense_Mutation_p.R1001H|ANK1_ENST00000347528.4_Missense_Mutation_p.R1001H|ANK1_ENST00000265709.8_Missense_Mutation_p.R1042H|ANK1_ENST00000352337.4_Missense_Mutation_p.R1001H	p.R1001H			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		27	3085	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1001			ZU5.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.3002G>A	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422833	0.62733	2.27E-4	0.0	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.21;-0.2;-0.22;-0.2;-0.23	4.99	4.99	0.66335	ZU5 (3);	0.061038	0.64402	D	0.000002	T	0.56277	0.1974	L	0.29908	0.895	0.58432	D	0.999994	P;B;B;B;P;B	0.35192	0.489;0.329;0.209;0.171;0.489;0.424	B;B;B;B;B;B	0.30401	0.112;0.035;0.033;0.013;0.112;0.115	T	0.61787	-0.6991	10	0.59425	D	0.04	.	18.2795	0.90094	0.0:1.0:0.0:0.0	.	1042;1001;1001;1001;1001;317	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	H	1001;1001;1001;1001;1001;1001;1042;1001	ENSP00000339620:R1001H;ENSP00000289734:R1001H;ENSP00000369082:R1001H;ENSP00000380149:R1001H;ENSP00000380147:R1001H;ENSP00000309131:R1001H;ENSP00000265709:R1042H	ENSP00000265709:R1042H	R	-	2	0	ANK1	41671965	1.000000	0.71417	0.985000	0.45067	0.798000	0.45092	6.066000	0.71185	2.302000	0.77476	0.563000	0.77884	CGT		0.607	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		79	113	0	0	0	1	0	79	113				
MAST3	23031	broad.mit.edu	37	19	18248158	18248158	+	Silent	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:18248158C>A	ENST00000262811.6	+	18	1995	c.1995C>A	c.(1993-1995)acC>acA	p.T665T		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	665	AGC-kinase C-terminal.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						AGGATGATACCAGCTACTTTG	0.627																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(1993-1995)acC>acA		microtubule associated serine/threonine kinase 3							77.0	81.0	79.0					19																	18248158		1953	4132	6085	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18248158C>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1995C>A	19.37:g.18248158C>A							p.T665T	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			18	1995	+			665			AGC-kinase C-terminal.		Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.1995C>A	CCDS46014.1																																																																																				0.627	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		5	114	1	0	0.217242	1	0.217242	5	114				
PHLDB3	653583	broad.mit.edu	37	19	44008242	44008242	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:44008242C>T	ENST00000292140.5	-	2	389	c.29G>A	c.(28-30)gGg>gAg	p.G10E	PHLDB3_ENST00000599242.1_Missense_Mutation_p.G10E	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	10							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CGGCGGGGTCCCCTCCTCGGG	0.741																																						ENST00000292140.5																			0				breast(1)|central_nervous_system(1)|lung(5)	7						c.(28-30)gGg>gAg		pleckstrin homology-like domain, family B, member 3							9.0	10.0	10.0					19																	44008242		2189	4276	6465	SO:0001583	missense	653583							g.chr19:44008242C>T		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.29G>A	19.37:g.44008242C>T	ENSP00000292140:p.Gly10Glu					PHLDB3_ENST00000599242.1_Missense_Mutation_p.G10E	p.G10E	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN			2	389	-		Prostate(69;0.0153)	10					Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	c.29G>A	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	c	17.09	3.300003	0.60195	.	.	ENSG00000176531	ENST00000292140	T	0.61158	0.13	4.88	-1.36	0.09085	.	2.773200	0.01675	N	0.025841	T	0.43299	0.1241	L	0.29908	0.895	0.09310	N	1	P;B	0.40731	0.728;0.011	B;B	0.37451	0.25;0.012	T	0.38001	-0.9681	10	0.87932	D	0	.	3.4681	0.07557	0.2765:0.3758:0.2686:0.0791	.	10;10	Q6NSJ2-2;Q6NSJ2	.;PHLB3_HUMAN	E	10	ENSP00000292140:G10E	ENSP00000292140:G10E	G	-	2	0	PHLDB3	48700082	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.061000	0.11693	-0.269000	0.09298	-3.360000	0.00041	GGG		0.741	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			6	13	0	0	0	1	0	6	13				
CD6	923	broad.mit.edu	37	11	60780908	60780908	+	Silent	SNP	A	A	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:60780908A>T	ENST00000313421.7	+	7	1350	c.1164A>T	c.(1162-1164)acA>acT	p.T388T	CD6_ENST00000545105.1_3'UTR|CD6_ENST00000346437.4_Silent_p.T388T|CD6_ENST00000352009.5_Silent_p.T388T|CD6_ENST00000344028.5_Silent_p.T388T|CD6_ENST00000452451.2_Silent_p.T388T	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	388					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CTTCTGTGACAGTGAAAATAG	0.463																																					Pancreas(169;904 2017 4767 38890 42505)	ENST00000313421.7																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(1162-1164)acA>acT		CD6 molecule							167.0	173.0	171.0					11																	60780908		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60780908A>T		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1164A>T	11.37:g.60780908A>T						CD6_ENST00000452451.2_Silent_p.T388T|CD6_ENST00000545105.1_3'UTR|CD6_ENST00000352009.5_Silent_p.T388T|CD6_ENST00000344028.5_Silent_p.T388T|CD6_ENST00000346437.4_Silent_p.T388T	p.T388T	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN			7	1350	+			388					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.1164A>T	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	A	8.439	0.850483	0.17034	.	.	ENSG00000013725	ENST00000538611	.	.	.	4.45	-8.9	0.00782	.	.	.	.	.	T	0.14700	0.0355	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15723	-1.0427	4	.	.	.	.	1.4902	0.02455	0.1908:0.1109:0.2934:0.4049	.	.	.	.	L	131	.	.	Q	+	2	0	CD6	60537484	0.000000	0.05858	0.002000	0.10522	0.947000	0.59692	-3.292000	0.00524	-2.235000	0.00714	0.533000	0.62120	CAG		0.463	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		4	166	0	0	0	1	0	4	166				
ABCA13	154664	broad.mit.edu	37	7	48563912	48563912	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:48563912G>T	ENST00000435803.1	+	54	14144	c.14120G>T	c.(14119-14121)aGa>aTa	p.R4707I	ABCA13_ENST00000544596.1_Missense_Mutation_p.R437I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4707					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GAGGAAAAGAGAGTGTTTGAA	0.383																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(14119-14121)aGa>aTa		ATP-binding cassette, sub-family A (ABC1), member 13							115.0	114.0	114.0					7																	48563912		1867	4099	5966	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48563912G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14120G>T	7.37:g.48563912G>T	ENSP00000411096:p.Arg4707Ile					ABCA13_ENST00000544596.1_Missense_Mutation_p.R437I	p.R4707I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			54	14144	+			4707					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.14120G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513798	0.64522	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.90197	-2.47;-2.63;-2.56	5.43	5.43	0.79202	.	0.000000	0.53938	D	0.000046	D	0.93795	0.8016	L	0.52364	1.645	0.26571	N	0.97356	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.88690	0.3208	10	0.87932	D	0	.	16.7668	0.85526	0.0:0.0:1.0:0.0	.	437;2409;4707	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	I	4707;480;437	ENSP00000411096:R4707I;ENSP00000391042:R480I;ENSP00000442634:R437I	ENSP00000391042:R480I	R	+	2	0	ABCA13	48534458	0.994000	0.37717	0.292000	0.24919	0.573000	0.36030	5.856000	0.69518	2.687000	0.91594	0.655000	0.94253	AGA		0.383	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		10	21	1	0	7.48243e-07	1	7.78783e-07	10	21				
NLRP5	126206	broad.mit.edu	37	19	56545030	56545030	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:56545030C>A	ENST00000390649.3	+	9	2570	c.2570C>A	c.(2569-2571)gCg>gAg	p.A857E		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	857					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTAAGGATGGCGTGTGAAGCC	0.473																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2569-2571)gCg>gAg		NLR family, pyrin domain containing 5							265.0	256.0	259.0					19																	56545030		1941	4151	6092	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56545030C>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2570C>A	19.37:g.56545030C>A	ENSP00000375063:p.Ala857Glu						p.A857E	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	9	2570	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	857					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2570C>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861308	0.32884	.	.	ENSG00000171487	ENST00000390649	T	0.52983	0.64	3.07	-0.657	0.11432	.	1.167570	0.06723	N	0.775184	T	0.59211	0.2177	M	0.68317	2.08	0.09310	N	1	D	0.71674	0.998	P	0.61201	0.885	T	0.48958	-0.8988	10	0.72032	D	0.01	.	5.3801	0.16186	0.0:0.4782:0.0:0.5218	.	857	P59047	NALP5_HUMAN	E	857	ENSP00000375063:A857E	ENSP00000375063:A857E	A	+	2	0	NLRP5	61236842	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.027000	0.13621	-0.048000	0.13401	0.555000	0.69702	GCG		0.473	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		61	198	1	0	3.07184e-27	1	3.48142e-27	61	198				
MCF2L2	23101	broad.mit.edu	37	3	183029545	183029545	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:183029545G>T	ENST00000328913.3	-	8	1066	c.769C>A	c.(769-771)Ctt>Att	p.L257I	MCF2L2_ENST00000447025.2_Missense_Mutation_p.L257I|MCF2L2_ENST00000473233.1_Missense_Mutation_p.L257I|MCF2L2_ENST00000414362.2_Missense_Mutation_p.L257I	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	257							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGCTTTCCAAGTAATTTCAGC	0.383																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(769-771)Ctt>Att		MCF.2 cell line derived transforming sequence-like 2							148.0	127.0	134.0					3																	183029545		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183029545G>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.769C>A	3.37:g.183029545G>T	ENSP00000328118:p.Leu257Ile					MCF2L2_ENST00000473233.1_Missense_Mutation_p.L257I|MCF2L2_ENST00000447025.2_Missense_Mutation_p.L257I|MCF2L2_ENST00000414362.2_Missense_Mutation_p.L257I	p.L257I	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		8	1066	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		257					O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.769C>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128349	0.37533	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000414362	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.4	3.54	0.40534	.	0.191607	0.42964	D	0.000640	T	0.30696	0.0773	L	0.46157	1.445	0.24638	N	0.993586	B;B;B	0.32829	0.081;0.003;0.386	B;B;B	0.24269	0.039;0.021;0.052	T	0.22521	-1.0214	10	0.48119	T	0.1	.	8.5269	0.33311	0.0:0.393:0.4851:0.1219	.	257;257;257	Q86YR7-3;Q86YR7-2;Q86YR7	.;.;MF2L2_HUMAN	I	257	ENSP00000328118:L257I;ENSP00000420070:L257I;ENSP00000388190:L257I;ENSP00000414131:L257I	ENSP00000328118:L257I	L	-	1	0	MCF2L2	184512239	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	5.109000	0.64615	1.268000	0.44264	0.561000	0.74099	CTT		0.383	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		28	75	1	0	7.07758e-08	1	7.4424e-08	28	75				
SON	6651	broad.mit.edu	37	21	34925139	34925139	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr21:34925139C>T	ENST00000356577.4	+	3	4077	c.3602C>T	c.(3601-3603)tCa>tTa	p.S1201L	SON_ENST00000300278.4_Missense_Mutation_p.S1201L|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S1201L|SON_ENST00000381679.4_Missense_Mutation_p.S1201L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1201					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAGGTGCCATCATCACCATCT	0.512																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3601-3603)tCa>tTa		SON DNA binding protein							131.0	134.0	133.0					21																	34925139		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34925139C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3602C>T	21.37:g.34925139C>T	ENSP00000348984:p.Ser1201Leu					SON_ENST00000381679.4_Missense_Mutation_p.S1201L|SON_ENST00000290239.6_Missense_Mutation_p.S1201L|SON_ENST00000300278.4_Missense_Mutation_p.S1201L|SON_ENST00000381692.2_Intron	p.S1201L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	4077	+			1201					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.3602C>T	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.20|15.20	2.763582|2.763582	0.49574|0.49574	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000436227|ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	.|T;T;T;T	.|0.11712	.|2.95;2.94;2.94;2.75	5.12|5.12	4.24|4.24	0.50183|0.50183	.|.	.|0.459330	.|0.18408	.|N	.|0.142154	T|T	0.07143|0.07143	0.0181|0.0181	N|N	0.24115|0.24115	0.695|0.695	0.25026|0.25026	N|N	0.991308|0.991308	.|B;P;B;B;B	.|0.36483	.|0.43;0.555;0.003;0.43;0.43	.|B;B;B;B;B	.|0.30943	.|0.122;0.052;0.004;0.122;0.122	T|T	0.26503|0.26503	-1.0101|-1.0101	5|10	.|0.33141	.|T	.|0.24	.|.	11.7212|11.7212	0.51683|0.51683	0.0:0.9131:0.0:0.0869|0.0:0.9131:0.0:0.0869	.|.	.|1201;1201;882;1201;1201	.|P18583-10;P18583;P18583-2;P18583-3;P18583-6	.|.;SON_HUMAN;.;.;.	Y|L	196|1201	.|ENSP00000348984:S1201L;ENSP00000290239:S1201L;ENSP00000300278:S1201L;ENSP00000371095:S1201L	.|ENSP00000290239:S1201L	H|S	+|+	1|2	0|0	SON|SON	33847009|33847009	0.996000|0.996000	0.38824|0.38824	0.980000|0.980000	0.43619|0.43619	0.760000|0.760000	0.43138|0.43138	4.218000|4.218000	0.58554|0.58554	1.294000|1.294000	0.44707|0.44707	0.563000|0.563000	0.77884|0.77884	CAT|TCA		0.512	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		58	147	0	0	0	1	0	58	147				
CENPV	201161	broad.mit.edu	37	17	16253307	16253307	+	Silent	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:16253307G>A	ENST00000299736.4	-	2	509	c.447C>T	c.(445-447)tgC>tgT	p.C149C	CENPV_ENST00000476243.1_5'UTR	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN	centromere protein V	152					ameboidal cell migration (GO:0001667)|centromere complex assembly (GO:0034508)|mitotic nuclear division (GO:0007067)|pericentric heterochromatin assembly (GO:0031508)|positive regulation of cytokinesis (GO:0032467)|regulation of chromosome organization (GO:0033044)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	carbon-sulfur lyase activity (GO:0016846)			endometrium(1)|large_intestine(2)	3						CTCCACAGTGGCAGCCTCCTG	0.398																																						ENST00000299736.4																			0				endometrium(1)|large_intestine(2)	3						c.(445-447)tgC>tgT		centromere protein V							64.0	69.0	67.0					17																	16253307		2203	4300	6503	SO:0001819	synonymous_variant	201161				cell division|centromeric heterochromatin formation|mitosis|positive regulation of cytokinesis|regulation of chromosome organization	condensed chromosome kinetochore|cytoplasm|nucleus|spindle midzone	carbon-sulfur lyase activity	g.chr17:16253307G>A	AF514992	CCDS32575.1	17p11.2	2013-11-05	2008-10-29	2008-10-29	ENSG00000166582	ENSG00000166582			29920	protein-coding gene	gene with protein product		608139	"""proline rich 6"""	PRR6		12196509, 18772885	Standard	NM_181716		Approved	p30, CENP-V	uc002gpw.3	Q7Z7K6	OTTHUMG00000059345	ENST00000299736.4:c.447C>T	17.37:g.16253307G>A						CENPV_ENST00000476243.1_5'UTR	p.C149C	NM_181716.2	NP_859067.2	Q7Z7K6	CENPV_HUMAN			2	509	-			152					B2RPK2|Q3L8N5|Q8NFH6	Silent	SNP	ENST00000299736.4	37	c.447C>T	CCDS32575.1																																																																																				0.398	CENPV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131877.1	NM_181716		4	108	0	0	0	1	0	4	108				
IKBKE	9641	broad.mit.edu	37	1	206649571	206649571	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:206649571A>C	ENST00000367120.3	+	6	779	c.406A>C	c.(406-408)Atc>Ctc	p.I136L	IKBKE_ENST00000537984.1_Missense_Mutation_p.I51L	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCATCGCGACATCAAGCCGGG	0.622																																						ENST00000367120.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32						c.(406-408)Atc>Ctc		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon							104.0	88.0	93.0					1																	206649571		2203	4300	6503	SO:0001583	missense	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206649571A>C	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.406A>C	1.37:g.206649571A>C	ENSP00000356087:p.Ile136Leu					IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.I51L	p.I136L	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN			6	779	+	Breast(84;0.137)		136			Protein kinase.		D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.406A>C	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753381	0.49362	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.34859	1.34;2.27	5.41	4.26	0.50523	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	N	0.03194	-0.395	0.44937	D	0.997953	D;B	0.69078	0.997;0.27	D;B	0.80764	0.994;0.252	T	0.11012	-1.0605	10	0.07325	T	0.83	.	12.714	0.57105	0.8622:0.1378:0.0:0.0	.	51;136	Q3B754;Q14164	.;IKKE_HUMAN	L	136;51	ENSP00000356087:I136L;ENSP00000444529:I51L	ENSP00000356087:I136L	I	+	1	0	IKBKE	204716194	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	7.249000	0.78278	0.966000	0.38159	0.402000	0.26972	ATC		0.622	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			14	64	0	0	0	1	0	14	64				
EPPIN	57119	broad.mit.edu	37	20	44167974	44167974	+	IGR	SNP	C	C	T	rs377030903		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr20:44167974C>T	ENST00000354280.4	-	0	1987				EPPIN_ENST00000555685.1_Intron|WFDC6_ENST00000372670.3_Missense_Mutation_p.A25T|EPPIN-WFDC6_ENST00000504988.1_Intron|WFDC6_ENST00000600168.1_Missense_Mutation_p.A25T	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor						defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										ATGCCTTCAGCGTGCCCAGGT	0.502																																						ENST00000600168.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(73-75)Gct>Act		WAP four-disulfide core domain 6							115.0	101.0	106.0					20																	44167974		2203	4300	6503	SO:0001628	intergenic_variant	140870							g.chr20:44167974C>T	AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588		20.37:g.44167974C>T						WFDC6_ENST00000372670.3_Missense_Mutation_p.A25T|EPPIN-WFDC6_ENST00000504988.1_Intron|EPPIN_ENST00000555685.1_Intron	p.A25T							1	160	-		Myeloproliferative disorder(115;0.0122)						A6PVD6|Q86TP9|Q96SD7|Q9HD30	Missense_Mutation	SNP	ENST00000354280.4	37	c.73G>A	CCDS13359.1	.	.	.	.	.	.	.	.	.	.	C	2.398	-0.338323	0.05243	.	.	ENSG00000243543	ENST00000372670;ENST00000372665	T	0.37235	1.21	3.42	2.44	0.29823	.	.	.	.	.	T	0.13329	0.0323	.	.	.	0.09310	N	0.999998	B	0.34181	0.44	B	0.16722	0.016	T	0.14172	-1.0482	8	0.08179	T	0.78	.	7.1087	0.25378	0.0:0.8723:0.0:0.1277	.	25	Q9BQY6-2	.	T	25	ENSP00000361750:A25T	ENSP00000361750:A25T	A	-	1	0	WFDC6	43601388	0.061000	0.20836	0.010000	0.14722	0.013000	0.08279	1.556000	0.36288	0.978000	0.38470	0.455000	0.32223	GCT		0.502	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4			25	66	0	0	0	1	0	25	66				
SI	6476	broad.mit.edu	37	3	164716394	164716394	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:164716394G>A	ENST00000264382.3	-	38	4536	c.4474C>T	c.(4474-4476)Cga>Tga	p.R1492*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1492	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CCTCCCCATCGTCCACTAGTA	0.383										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4474-4476)Cga>Tga		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						186.0	165.0	172.0					3																	164716394		2203	4299	6502	SO:0001587	stop_gained	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164716394G>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4474C>T	3.37:g.164716394G>A	ENSP00000264382:p.Arg1492*	HNSCC(35;0.089)					p.R1492*	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			38	4536	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1492			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.4474C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	39	7.878964	0.98539	.	.	ENSG00000090402	ENST00000264382	.	.	.	4.76	1.92	0.25849	.	0.298852	0.31859	N	0.006947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1403	0.65316	0.0:0.0:0.4915:0.5085	.	.	.	.	X	1492	.	ENSP00000264382:R1492X	R	-	1	2	SI	166199088	0.002000	0.14202	0.153000	0.22517	0.109000	0.19521	0.587000	0.23909	0.294000	0.22547	0.650000	0.86243	CGA		0.383	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		4	132	0	0	0	1	0	4	132				
TMEM202	338949	broad.mit.edu	37	15	72700048	72700048	+	Silent	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr15:72700048C>G	ENST00000341689.3	+	5	690	c.636C>G	c.(634-636)ctC>ctG	p.L212L	TMEM202_ENST00000567679.1_3'UTR	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	212						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TCTCTCTTCTCAACTACTTAA	0.438																																						ENST00000341689.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(634-636)ctC>ctG		transmembrane protein 202							74.0	75.0	74.0					15																	72700048		2199	4297	6496	SO:0001819	synonymous_variant	338949					integral to membrane		g.chr15:72700048C>G		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.636C>G	15.37:g.72700048C>G						TMEM202_ENST00000567679.1_3'UTR	p.L212L	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN			5	690	+			212						Silent	SNP	ENST00000341689.3	37	c.636C>G	CCDS32287.1																																																																																				0.438	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		27	60	0	0	0	1	0	27	60				
FPR1	2357	broad.mit.edu	37	19	52249322	52249322	+	Missense_Mutation	SNP	C	C	T	rs555690623		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:52249322C>T	ENST00000595042.1	-	3	1067	c.926G>A	c.(925-927)cGg>cAg	p.R309Q	FPR1_ENST00000304748.4_Missense_Mutation_p.R309Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	309					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CAGCCTCTCCCGGAAGTCCTG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		15010	0.0		0.0	False		,,,				2504	0.001					ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(925-927)cGg>cAg		formyl peptide receptor 1	Nedocromil(DB00716)						109.0	97.0	101.0					19																	52249322		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249322C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.926G>A	19.37:g.52249322C>T	ENSP00000471493:p.Arg309Gln					FPR1_ENST00000304748.4_Missense_Mutation_p.R309Q	p.R309Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	1067	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	309					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.926G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	13.42	2.232448	0.39498	.	.	ENSG00000171051	ENST00000304748	T	0.57273	0.41	3.55	3.55	0.40652	.	0.081078	0.45867	D	0.000327	T	0.38585	0.1046	L	0.46567	1.45	0.29177	N	0.876768	P	0.42871	0.792	B	0.36845	0.234	T	0.34229	-0.9837	10	0.30854	T	0.27	.	7.5041	0.27534	0.0:0.8733:0.0:0.1267	.	309	P21462	FPR1_HUMAN	Q	309	ENSP00000302707:R309Q	ENSP00000302707:R309Q	R	-	2	0	FPR1	56941134	0.183000	0.23186	0.863000	0.33907	0.794000	0.44872	0.988000	0.29616	1.907000	0.55213	0.650000	0.86243	CGG		0.537	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		42	87	0	0	0	1	0	42	87				
HIST1H1T	3010	broad.mit.edu	37	6	26107930	26107930	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr6:26107930T>C	ENST00000338379.4	-	1	434	c.392A>G	c.(391-393)aAg>aGg	p.K131R		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	131					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CTTCTTGGTCTTGGCAGAAAC	0.453																																						ENST00000338379.4																			0				breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						c.(391-393)aAg>aGg		histone cluster 1, H1t							101.0	95.0	97.0					6																	26107930		2203	4300	6503	SO:0001583	missense	3010				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding	g.chr6:26107930T>C	M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.392A>G	6.37:g.26107930T>C	ENSP00000341214:p.Lys131Arg						p.K131R	NM_005323.3	NP_005314.2	P22492	H1T_HUMAN			1	434	-			131					Q6ISI1|Q8IUE8	Missense_Mutation	SNP	ENST00000338379.4	37	c.392A>G	CCDS34349.1	.	.	.	.	.	.	.	.	.	.	.	15.74	2.923546	0.52653	.	.	ENSG00000187475	ENST00000338379	T	0.06933	3.24	5.24	4.08	0.47627	.	0.565672	0.17064	N	0.188458	T	0.01558	0.0050	N	0.08118	0	0.40171	D	0.977173	P	0.43287	0.802	B	0.34489	0.184	T	0.55095	-0.8194	10	0.56958	D	0.05	-4.2108	10.0739	0.42349	0.0:0.0783:0.0:0.9217	.	131	P22492	H1T_HUMAN	R	131	ENSP00000341214:K131R	ENSP00000341214:K131R	K	-	2	0	HIST1H1T	26215909	1.000000	0.71417	0.044000	0.18714	0.015000	0.08874	4.925000	0.63425	1.024000	0.39682	0.533000	0.62120	AAG		0.453	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040093.2	NM_005323		54	124	0	0	0	1	0	54	124				
TCF21	6943	broad.mit.edu	37	6	134210974	134210974	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr6:134210974C>G	ENST00000367882.4	+	1	699	c.439C>G	c.(439-441)Ccg>Gcg	p.P147A	RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.P147A	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	147					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GTACATTCACCCGGTCAACCT	0.667																																						ENST00000367882.4																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(439-441)Ccg>Gcg		transcription factor 21							55.0	54.0	54.0					6																	134210974		2185	4262	6447	SO:0001583	missense	6943				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:134210974C>G	AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.439C>G	6.37:g.134210974C>G	ENSP00000356857:p.Pro147Ala					RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.P147A	p.P147A	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN		GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)	1	699	+	Colorectal(23;0.221)|Breast(56;0.247)		147					E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	c.439C>G	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936556	0.73442	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.87650	-2.28;-2.28	4.17	3.27	0.37495	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.89396	0.6703	L	0.61218	1.895	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	D	0.90338	0.4357	10	0.72032	D	0.01	-18.7097	13.9308	0.63994	0.0:0.8463:0.1537:0.0	.	147	O43680	TCF21_HUMAN	A	147	ENSP00000356857:P147A;ENSP00000237316:P147A	ENSP00000237316:P147A	P	+	1	0	TCF21	134252667	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.776000	0.85560	0.828000	0.34709	0.462000	0.41574	CCG		0.667	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1	NM_198392		48	128	0	0	0	1	0	48	128				
VWA1	64856	broad.mit.edu	37	1	1372485	1372485	+	Silent	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:1372485C>T	ENST00000476993.1	+	2	330	c.252C>T	c.(250-252)acC>acT	p.T84T	VWA1_ENST00000338660.5_Intron|VWA1_ENST00000404702.3_Intron|RP4-758J18.10_ENST00000417917.1_lincRNA	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	84	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614)				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCCATACACCGAGTTCCCCT	0.701																																						ENST00000476993.1																			0				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(250-252)acC>acT		von Willebrand factor A domain containing 1							36.0	30.0	32.0					1																	1372485		2193	4292	6485	SO:0001819	synonymous_variant	64856					basement membrane		g.chr1:1372485C>T	BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403		"""Fibronectin type III domain containing"""	30910	protein-coding gene	gene with protein product		611901				14527666, 12062410	Standard	NM_022834		Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.252C>T	1.37:g.1372485C>T						VWA1_ENST00000338660.5_Intron|VWA1_ENST00000404702.3_Intron	p.T84T	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	330	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	84			VWFA.		A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5	Silent	SNP	ENST00000476993.1	37	c.252C>T	CCDS27.1																																																																																				0.701	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008291.1	NM_022834		12	24	0	0	0	1	0	12	24				
MST1L	11223	broad.mit.edu	37	1	17083652	17083652	+	RNA	SNP	C	C	T	rs113710576		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:17083652C>T	ENST00000455405.2	-	0	936							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										aaatctcaaccttgagtacaa	0.388																																						ENST00000455405.2																			0																																																			11223							g.chr1:17083652C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083652C>T														0	936	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.388	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		6	67	0	0	0	1	0	6	67				
OR51Q1	390061	broad.mit.edu	37	11	5444249	5444249	+	Silent	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:5444249G>A	ENST00000300778.4	+	1	909	c.819G>A	c.(817-819)ctG>ctA	p.L273L	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCTCCACTGGTCCATGTTA	0.478																																						ENST00000300778.4																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37						c.(817-819)ctG>ctA		olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)							119.0	101.0	107.0					11																	5444249		2201	4297	6498	SO:0001819	synonymous_variant	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444249G>A	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.819G>A	11.37:g.5444249G>A						HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.L273L	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	909	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	273					B2RNN1	Silent	SNP	ENST00000300778.4	37	c.819G>A	CCDS31381.1																																																																																				0.478	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		33	67	0	0	0	1	0	33	67				
MPST	4357	broad.mit.edu	37	22	37420665	37420665	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr22:37420665C>T	ENST00000397225.2	+	2	1324	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	MPST_ENST00000401419.3_Missense_Mutation_p.R137C|MPST_ENST00000397129.1_Missense_Mutation_p.R157C|MPST_ENST00000429360.2_Missense_Mutation_p.R137C|MPST_ENST00000404802.3_Missense_Mutation_p.R137C|MPST_ENST00000341116.3_Missense_Mutation_p.R137C|MPST_ENST00000404393.1_Missense_Mutation_p.R137C			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	137	Rhodanese 1. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cyanate catabolic process (GO:0009440)|hydrogen sulfide biosynthetic process (GO:0070814)|response to toxic substance (GO:0009636)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|neuron projection (GO:0043005)|synapse (GO:0045202)	3-mercaptopyruvate sulfurtransferase activity (GO:0016784)|thiosulfate sulfurtransferase activity (GO:0004792)			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						CCACTGGCTGCGCCAGAACCT	0.677																																						ENST00000397225.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						c.(409-411)Cgc>Tgc		mercaptopyruvate sulfurtransferase							10.0	11.0	11.0					22																	37420665		2177	4256	6433	SO:0001583	missense	4357				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity	g.chr22:37420665C>T	X59434	CCDS13939.1	22q13.1	2010-04-27			ENSG00000128309	ENSG00000128309	2.8.1.2		7223	protein-coding gene	gene with protein product	"""human liver rhodanese"""	602496				1953758	Standard	NM_021126		Approved	MST, TST2	uc011amu.3	P25325	OTTHUMG00000150543	ENST00000397225.2:c.409C>T	22.37:g.37420665C>T	ENSP00000380402:p.Arg137Cys					MPST_ENST00000429360.2_Missense_Mutation_p.R137C|MPST_ENST00000401419.3_Missense_Mutation_p.R137C|MPST_ENST00000404802.3_Missense_Mutation_p.R137C|MPST_ENST00000397129.1_Missense_Mutation_p.R157C|MPST_ENST00000341116.3_Missense_Mutation_p.R137C|MPST_ENST00000404393.1_Missense_Mutation_p.R137C	p.R137C			P25325	THTM_HUMAN			2	1324	+			137			Rhodanese 1.		A8MZ34|B3KP52|J3KPV7|O75750|Q6FHN9	Missense_Mutation	SNP	ENST00000397225.2	37	c.409C>T	CCDS13939.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556519	0.45487	.	.	ENSG00000128309	ENST00000401419;ENST00000397129;ENST00000404802;ENST00000341116;ENST00000429360;ENST00000404393;ENST00000397225;ENST00000446076	T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.67	1.96	0.26148	Rhodanese-like (5);	0.626201	0.17902	N	0.158153	T	0.64193	0.2576	M	0.90082	3.085	0.44227	D	0.997065	P;D;D;P;D	0.89917	0.956;0.988;0.997;0.956;1.0	B;P;P;B;P	0.56563	0.394;0.521;0.642;0.394;0.801	T	0.74234	-0.3731	10	0.66056	D	0.02	-1.1554	14.5363	0.67963	0.5944:0.4056:0.0:0.0	.	137;137;137;137;157	Q6FHN9;B3KP52;B1AH49;P25325;Q59HD5	.;.;.;THTM_HUMAN;.	C	137;157;137;137;137;137;137;137	ENSP00000384812:R137C;ENSP00000380318:R157C;ENSP00000383950:R137C;ENSP00000342333:R137C;ENSP00000411719:R137C;ENSP00000385062:R137C;ENSP00000380402:R137C	ENSP00000342333:R137C	R	+	1	0	MPST	35750611	0.989000	0.36119	0.974000	0.42286	0.203000	0.24098	1.182000	0.32029	0.563000	0.29222	-0.310000	0.09108	CGC		0.677	MPST-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318832.1	NM_001013440		8	10	0	0	0	1	0	8	10				
OR5D16	390144	broad.mit.edu	37	11	55606557	55606557	+	Silent	SNP	A	A	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:55606557A>G	ENST00000378396.1	+	1	330	c.330A>G	c.(328-330)gtA>gtG	p.V110V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCACCTTTGTAGTGACTGAAT	0.433																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(328-330)gtA>gtG		olfactory receptor, family 5, subfamily D, member 16							135.0	133.0	133.0					11																	55606557		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606557A>G	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.330A>G	11.37:g.55606557A>G							p.V110V	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	330	+		all_epithelial(135;0.208)	110					Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.330A>G	CCDS31512.1																																																																																				0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		61	70	0	0	0	1	0	61	70				
ERBB4	2066	broad.mit.edu	37	2	212286830	212286830	+	Splice_Site	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr2:212286830C>A	ENST00000342788.4	-	24	3177		c.e24-1		ERBB4_ENST00000402597.1_Splice_Site|ERBB4_ENST00000436443.1_Splice_Site	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4						cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATCATCCAACCTGGAAATTTA	0.348										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.e24-1		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							99.0	92.0	94.0					2																	212286830		2203	4300	6503	SO:0001630	splice_region_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212286830C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2867-1G>T	2.37:g.212286830C>A		TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Splice_Site|ERBB4_ENST00000436443.1_Splice_Site		NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	24	3177	-		Renal(323;0.06)|Lung NSC(271;0.197)						B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Splice_Site	SNP	ENST00000342788.4	37		CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029336	0.93518	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8494	0.96733	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERBB4	211995075	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.800000	0.85949	2.705000	0.92388	0.585000	0.79938	.		0.348	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	Intron	24	56	1	0	1.66031e-10	1	1.78264e-10	24	56				
TMPRSS11D	9407	broad.mit.edu	37	4	68693217	68693217	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr4:68693217C>G	ENST00000283916.6	-	8	812	c.714G>C	c.(712-714)tgG>tgC	p.W238C	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.W121C|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	238	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACGTGGCAATCCAGTCACGAG	0.313																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(712-714)tgG>tgC		transmembrane protease, serine 11D							39.0	38.0	39.0					4																	68693217		2203	4299	6502	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68693217C>G	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.714G>C	4.37:g.68693217C>G	ENSP00000283916:p.Trp238Cys					TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.W121C|RP11-453E17.1_ENST00000500538.2_RNA	p.W238C	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			8	812	-			238			Peptidase S1.		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.714G>C	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397935	0.42512	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	D;D	0.89050	-2.46;-2.46	5.58	5.58	0.84498	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.122247	0.38058	N	0.001835	D	0.95526	0.8546	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96006	0.8997	10	0.87932	D	0	.	15.4378	0.75160	0.0:1.0:0.0:0.0	.	238	O60235	TM11D_HUMAN	C	238;121	ENSP00000283916:W238C;ENSP00000442045:W121C	ENSP00000283916:W238C	W	-	3	0	TMPRSS11D	68375812	1.000000	0.71417	0.979000	0.43373	0.021000	0.10359	4.985000	0.63845	2.774000	0.95407	0.655000	0.94253	TGG		0.313	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		21	43	0	0	0	1	0	21	43				
PABPN1	8106	broad.mit.edu	37	14	23793497	23793497	+	Splice_Site	SNP	A	A	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr14:23793497A>G	ENST00000216727.4	+	6	1061	c.880A>G	c.(880-882)Agg>Ggg	p.R294G	PABPN1_ENST00000556821.1_Splice_Site_p.R166G|PABPN1_ENST00000397276.2_Missense_Mutation_p.R294G|AL049829.1_ENST00000594872.1_5'Flank|PABPN1_ENST00000557702.1_Missense_Mutation_p.R166G|BCL2L2-PABPN1_ENST00000553781.1_Splice_Site_p.R321G|BCL2L2-PABPN1_ENST00000557008.1_Splice_Site_p.R321G	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	294	Interacts with PAPOLA. {ECO:0000250}.|Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCGCGTCTACAGGTCAGGATA	0.632																																						ENST00000397276.2																			0				large_intestine(1)|lung(1)|ovary(2)	4						c.(880-882)Agg>Ggg		poly(A) binding protein, nuclear 1							74.0	75.0	74.0					14																	23793497		2203	4300	6503	SO:0001630	splice_region_variant	8106							g.chr14:23793497A>G	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.881+1A>G	14.37:g.23793497A>G						PABPN1_ENST00000216727.4_Splice_Site_p.R294_splice|BCL2L2-PABPN1_ENST00000557008.1_Splice_Site_p.R321_splice|PABPN1_ENST00000556821.1_Splice_Site_p.R166_splice|BCL2L2-PABPN1_ENST00000553781.1_Splice_Site_p.R321_splice|PABPN1_ENST00000557702.1_Missense_Mutation_p.R166G	p.R294G						GBM - Glioblastoma multiforme(265;0.00643)	6	893	+	all_cancers(95;6.69e-06)							D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	c.880A>G	CCDS9592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.56|15.56	2.869779|2.869779	0.51588|0.51588	.|.	.|.	ENSG00000100836|ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836	ENST00000555295|ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702	.|T;T;T;T;T;T	.|0.61980	.|2.69;2.69;0.06;0.45;2.08;2.09	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67449|0.67449	0.2894|0.2894	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.56287	.|0.915;0.975;0.974	.|B;P;P	.|0.48304	.|0.275;0.573;0.546	T|T	0.72962|0.72962	-0.4132|-0.4132	5|10	.|0.72032	.|D	.|0.01	-25.6256|-25.6256	11.5492|11.5492	0.50711|0.50711	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|294;294;321	.|Q86U42;Q86U42-2;G3V5R7	.|PABP2_HUMAN;.;.	R|G	93|321;321;294;294;166;166	.|ENSP00000451320:R321G;ENSP00000452479:R321G;ENSP00000216727:R294G;ENSP00000380446:R294G;ENSP00000451970:R166G;ENSP00000450724:R166G	.|ENSP00000216727:R294G	Q|R	+|+	2|1	0|2	PABPN1|PABPN1;RP11-124D2.2	22863337|22863337	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.410000|8.410000	0.90225|0.90225	1.994000|1.994000	0.58287|0.58287	0.533000|0.533000	0.62120|0.62120	CAG|AGG		0.632	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643	Missense_Mutation	25	102	0	0	0	1	0	25	102				
PHLDB3	653583	broad.mit.edu	37	19	44008241	44008241	+	Silent	SNP	C	C	G	rs367981638		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:44008241C>G	ENST00000292140.5	-	2	390	c.30G>C	c.(28-30)ggG>ggC	p.G10G	PHLDB3_ENST00000599242.1_Silent_p.G10G	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	10							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GCGGCGGGGTCCCCTCCTCGG	0.741																																						ENST00000292140.5																			0				breast(1)|central_nervous_system(1)|lung(5)	7						c.(28-30)ggG>ggC		pleckstrin homology-like domain, family B, member 3							10.0	11.0	10.0					19																	44008241		2190	4278	6468	SO:0001819	synonymous_variant	653583							g.chr19:44008241C>G		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.30G>C	19.37:g.44008241C>G						PHLDB3_ENST00000599242.1_Silent_p.G10G	p.G10G	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN			2	390	-		Prostate(69;0.0153)	10					Q8N7Z4	Silent	SNP	ENST00000292140.5	37	c.30G>C	CCDS12621.2																																																																																				0.741	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2			6	14	0	0	0	1	0	6	14				
USH2A	7399	broad.mit.edu	37	1	216251460	216251460	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:216251460T>A	ENST00000307340.3	-	27	5929	c.5543A>T	c.(5542-5544)aAc>aTc	p.N1848I	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.N1848I|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1848	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.N1848T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTGATAAGAGTTCAGCAGTTC	0.463										HNSCC(13;0.011)																												ENST00000366943.2																			1	Substitution - Missense(1)	p.N1848T(1)	large_intestine(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5542-5544)aAc>aTc		Usher syndrome 2A (autosomal recessive, mild)							80.0	84.0	83.0					1																	216251460		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216251460T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5543A>T	1.37:g.216251460T>A	ENSP00000305941:p.Asn1848Ile	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.N1848I|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	p.N1848I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	27	5929	-			1848			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5543A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.815828	0.50527	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.77620	-1.11;-1.11	5.01	-0.455	0.12193	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.681568	0.12407	N	0.471618	T	0.63367	0.2505	L	0.43152	1.355	0.09310	N	1	B	0.32010	0.351	B	0.32022	0.139	T	0.51395	-0.8711	10	0.37606	T	0.19	.	2.1855	0.03885	0.1149:0.2055:0.119:0.5606	.	1848	O75445	USH2A_HUMAN	I	1848	ENSP00000305941:N1848I;ENSP00000355910:N1848I	ENSP00000305941:N1848I	N	-	2	0	USH2A	214318083	0.001000	0.12720	0.000000	0.03702	0.411000	0.31082	1.045000	0.30341	-0.368000	0.08040	-0.297000	0.09499	AAC		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		81	90	0	0	0	1	0	81	90				
BTNL3	10917	broad.mit.edu	37	5	180432367	180432367	+	Missense_Mutation	SNP	C	C	T	rs200172568	byFrequency	TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr5:180432367C>T	ENST00000342868.6	+	8	1080	c.896C>T	c.(895-897)cCg>cTg	p.P299L	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	299	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)		p.P299L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			ACGGCTCACCCGAAGCTCTGC	0.537																																						ENST00000342868.6																			1	Substitution - Missense(1)	p.P299L(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(895-897)cCg>cTg		butyrophilin-like 3							38.0	45.0	43.0					5																	180432367		2200	4276	6476	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180432367C>T	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.896C>T	5.37:g.180432367C>T	ENSP00000341787:p.Pro299Leu						p.P299L	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1080	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	299			B30.2/SPRY.		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.896C>T	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289877	0.40494	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.14640	2.49	2.55	-2.57	0.06248	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.27313	0.0670	M	0.66378	2.025	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.12915	-1.0529	9	0.62326	D	0.03	.	4.6143	0.12418	0.0:0.5887:0.1801:0.2311	.	265;299	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	L	299;265	ENSP00000341787:P299L	ENSP00000341787:P299L	P	+	2	0	BTNL3	180364973	0.003000	0.15002	0.000000	0.03702	0.019000	0.09904	0.776000	0.26704	-0.286000	0.09076	0.184000	0.17185	CCG		0.537	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		21	78	0	0	0	1	0	21	78				
SMPD1	6609	broad.mit.edu	37	11	6412781	6412781	+	Silent	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:6412781C>G	ENST00000342245.4	+	2	654	c.486C>G	c.(484-486)ctC>ctG	p.L162L	SMPD1_ENST00000356761.2_Silent_p.L162L|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000299397.3_Silent_p.L162L|SMPD1_ENST00000527275.1_Silent_p.L161L	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	160	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	GTGGCCTGCTCCTGGGCTCCA	0.607																																						ENST00000342245.4																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23						c.(484-486)ctC>ctG		sphingomyelin phosphodiesterase 1, acid lysosomal	Desipramine(DB01151)						53.0	49.0	50.0					11																	6412781		2201	4296	6497	SO:0001819	synonymous_variant	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6412781C>G	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.486C>G	11.37:g.6412781C>G						SMPD1_ENST00000356761.2_Silent_p.L162L|SMPD1_ENST00000299397.3_Silent_p.L162L|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Silent_p.L161L	p.L162L	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	654	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	160			Saposin B-type.		A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Silent	SNP	ENST00000342245.4	37	c.486C>G	CCDS44531.1																																																																																				0.607	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		11	19	0	0	0	1	0	11	19				
GIF	2694	broad.mit.edu	37	11	59599164	59599164	+	Silent	SNP	T	T	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:59599164T>C	ENST00000257248.2	-	8	1226	c.1179A>G	c.(1177-1179)acA>acG	p.T393T	GIF_ENST00000541311.1_Silent_p.T368T	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	393	Cobalamin binding.				cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	CATTCAAAGGTGTTACACCAC	0.358																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			0				large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1102-1104)acA>acG		gastric intrinsic factor (vitamin B synthesis)							118.0	108.0	111.0					11																	59599164		2201	4295	6496	SO:0001819	synonymous_variant	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59599164T>C	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.1179A>G	11.37:g.59599164T>C						GIF_ENST00000257248.2_Silent_p.T393T	p.T368T			P27352	IF_HUMAN			8	1338	-			393			Cobalamin binding.		B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	c.1104A>G	CCDS7977.1																																																																																				0.358	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		33	50	0	0	0	1	0	33	50				
MMP1	4312	broad.mit.edu	37	11	102668112	102668112	+	Silent	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:102668112C>G	ENST00000315274.6	-	2	292	c.225G>C	c.(223-225)gtG>gtC	p.V75V	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	75					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GTTTCCCAGTCACTTTCAGCC	0.493																																						ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(223-225)gtG>gtC		matrix metallopeptidase 1 (interstitial collagenase)							130.0	123.0	125.0					11																	102668112		2203	4299	6502	SO:0001819	synonymous_variant	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102668112C>G	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.225G>C	11.37:g.102668112C>G						WTAPP1_ENST00000525739.2_RNA	p.V75V	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	2	292	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	75					P08156	Silent	SNP	ENST00000315274.6	37	c.225G>C	CCDS8322.1																																																																																				0.493	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		31	898	0	0	0	1	0	31	898				
LHFP	10186	broad.mit.edu	37	13	39918178	39918178	+	Silent	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr13:39918178G>A	ENST00000379589.3	-	4	960	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	166						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGGCCCAGCCGATTTCACACT	0.527			T	HMGA2	lipoma																																	ENST00000379589.3				Dom	yes		13	13q12	10186	T	lipoma HMGIC fusion partner			M	HMGA2		lipoma	HMGA2/LHFP(2)	0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13						c.(496-498)atC>atT		lipoma HMGIC fusion partner							56.0	49.0	52.0					13																	39918178		2203	4300	6503	SO:0001819	synonymous_variant	10186					integral to membrane	DNA binding	g.chr13:39918178G>A	AF098807	CCDS9369.1	13q12	2008-07-18			ENSG00000183722	ENSG00000183722			6586	protein-coding gene	gene with protein product		606710				10329012	Standard	NM_005780		Approved	MGC22429	uc001uxf.3	Q9Y693	OTTHUMG00000016767	ENST00000379589.3:c.498C>T	13.37:g.39918178G>A							p.I166I	NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)	4	960	-		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)	166					B2R7M2|Q53FC0|Q96SH5	Silent	SNP	ENST00000379589.3	37	c.498C>T	CCDS9369.1																																																																																				0.527	LHFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044619.1	NM_005780		15	24	0	0	0	1	0	15	24				
DVL1	1855	broad.mit.edu	37	1	1271769	1271769	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:1271769C>A	ENST00000378888.5	-	15	2125	c.1841G>T	c.(1840-1842)aGc>aTc	p.S614I	DVL1_ENST00000378891.5_Missense_Mutation_p.S589I			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	614					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGCCAGCTGCTCCCCACCCC	0.766																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(1840-1842)aGc>aTc		dishevelled segment polarity protein 1							12.0	13.0	13.0					1																	1271769		2031	4027	6058	SO:0001583	missense	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1271769C>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1841G>T	1.37:g.1271769C>A	ENSP00000368166:p.Ser614Ile					DVL1_ENST00000378891.5_Missense_Mutation_p.S589I	p.S614I			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	15	2125	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	614					Q5TA33|Q5TA35	Missense_Mutation	SNP	ENST00000378888.5	37	c.1841G>T		.	.	.	.	.	.	.	.	.	.	C	13.15	2.152347	0.38021	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100;ENST00000263743	T;T	0.05319	3.46;3.47	4.7	4.7	0.59300	Dishevelled C-terminal (1);	0.700881	0.13539	N	0.380390	T	0.08714	0.0216	L	0.45137	1.4	0.35497	D	0.799448	B;P;B	0.36789	0.226;0.57;0.226	B;B;B	0.35182	0.176;0.197;0.176	T	0.38993	-0.9635	10	0.32370	T	0.25	.	18.2311	0.89934	0.0:1.0:0.0:0.0	.	272;614;589	G3XA93;O14640;O14640-2	.;DVL1_HUMAN;.	I	589;614;363;272	ENSP00000368169:S589I;ENSP00000368166:S614I	ENSP00000263743:S272I	S	-	2	0	DVL1	1261632	0.114000	0.22134	0.064000	0.19789	0.068000	0.16541	2.842000	0.48230	2.607000	0.88179	0.555000	0.69702	AGC		0.766	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		10	24	1	0	7.03913e-09	1	7.47907e-09	10	24				
LYN	4067	broad.mit.edu	37	8	56864548	56864548	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:56864548G>C	ENST00000519728.1	+	7	807	c.511G>C	c.(511-513)Gac>Cac	p.D171H	LYN_ENST00000520220.2_Missense_Mutation_p.D150H	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	171	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GTCTGTCAGAGACTTTGACCC	0.388																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(448-450)Gac>Cac		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							126.0	130.0	129.0					8																	56864548		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56864548G>C	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.511G>C	8.37:g.56864548G>C	ENSP00000428924:p.Asp171His					LYN_ENST00000519728.1_Missense_Mutation_p.D171H	p.D150H	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		7	722	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	171			SH2.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.448G>C	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633926	0.67130	.	.	ENSG00000254087	ENST00000519728;ENST00000520220	T;T	0.25085	1.82;1.82	6.01	6.01	0.97437	SH2 motif (5);	0.090319	0.85682	D	0.000000	T	0.53498	0.1800	M	0.66560	2.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.50448	-0.8827	10	0.87932	D	0	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	241;171	Q6NUK7;P07948	.;LYN_HUMAN	H	171;150	ENSP00000428924:D171H;ENSP00000428424:D150H	ENSP00000428924:D171H	D	+	1	0	LYN	57027102	1.000000	0.71417	0.991000	0.47740	0.095000	0.18619	9.835000	0.99442	2.861000	0.98227	0.650000	0.86243	GAC		0.388	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		71	318	0	0	0	1	0	71	318				
EIF4G1	1981	broad.mit.edu	37	3	184044414	184044414	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:184044414G>A	ENST00000346169.2	+	22	3593	c.3322G>A	c.(3322-3324)Gca>Aca	p.A1108T	EIF4G1_ENST00000441154.1_Missense_Mutation_p.A945T|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A1115T|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A1115T|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A912T|EIF4G1_ENST00000342981.4_Missense_Mutation_p.A1109T|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A1068T|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A1115T|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A1021T|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A1069T|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A1022T|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A944T|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A1108T|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A913T	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1108					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCTCAGACGCAGGTATGGA	0.592																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(3325-3327)Gca>Aca		eukaryotic translation initiation factor 4 gamma, 1							63.0	61.0	62.0					3																	184044414		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184044414G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3322G>A	3.37:g.184044414G>A	ENSP00000316879:p.Ala1108Thr					EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A913T|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A1115T|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A912T|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A1069T|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A1115T|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A1021T|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A1115T|EIF4G1_ENST00000346169.2_Missense_Mutation_p.A1108T|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A1068T|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A944T|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A1108T|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A945T|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A1022T	p.A1109T	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		21	3739	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1108					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.3325G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348346	0.24426	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.03717	4.03;4.02;3.93;4.02;3.84;4.02;3.92;4.02;4.03;4.02;4.01;3.83;3.83;3.84	5.05	3.12	0.35913	.	0.537874	0.19618	N	0.109975	T	0.00998	0.0033	N	0.01048	-1.04	0.21020	N	0.999806	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.47548	-0.9109	10	0.08837	T	0.75	-3.7889	1.3629	0.02195	0.1838:0.1365:0.4486:0.2312	.	1115;1109;1108	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	T	1108;1068;1021;1115;944;1115;1022;1109;1108;1115;1069;945;913;912	ENSP00000316879:A1108T;ENSP00000391935:A1068T;ENSP00000376320:A1021T;ENSP00000371767:A1115T;ENSP00000317600:A944T;ENSP00000338020:A1115T;ENSP00000407682:A1022T;ENSP00000343450:A1109T;ENSP00000323737:A1108T;ENSP00000416255:A1115T;ENSP00000395974:A1069T;ENSP00000399858:A945T;ENSP00000411826:A913T;ENSP00000404754:A912T	ENSP00000323737:A1108T	A	+	1	0	EIF4G1	185527108	0.663000	0.27448	0.990000	0.47175	0.926000	0.56050	0.921000	0.28718	1.471000	0.48121	0.655000	0.94253	GCA		0.592	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		15	54	0	0	0	1	0	15	54				
CNNM1	26507	broad.mit.edu	37	10	101090568	101090568	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:101090568T>A	ENST00000356713.4	+	1	1713	c.1424T>A	c.(1423-1425)aTt>aAt	p.I475N	CNNM1_ENST00000446890.1_Missense_Mutation_p.I404N|CNNM1_ENST00000370528.3_Missense_Mutation_p.I404N|CNNM1_ENST00000370534.4_Missense_Mutation_p.I110N	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	475	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CGGCACAACATTGTGGACATT	0.602																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(1423-1425)aTt>aAt		cyclin M1							89.0	72.0	78.0					10																	101090568		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101090568T>A	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1424T>A	10.37:g.101090568T>A	ENSP00000349147:p.Ile475Asn					CNNM1_ENST00000446890.1_Missense_Mutation_p.I404N|CNNM1_ENST00000370528.3_Missense_Mutation_p.I404N|CNNM1_ENST00000370534.4_Missense_Mutation_p.I110N	p.I475N	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	1	1713	+		Colorectal(252;0.234)	475			CBS 1.		Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.1424T>A	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	T	18.84	3.708813	0.68615	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	4.54	4.54	0.55810	Cystathionine beta-synthase, core (1);	0.000000	0.85682	D	0.000000	D	0.92928	0.7750	H	0.99336	4.52	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.87578	0.998;0.998;0.993;0.995	D	0.95526	0.8599	10	0.87932	D	0	-18.9853	14.0286	0.64601	0.0:0.0:0.0:1.0	.	110;475;110;475	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	N	475;404;404;110	ENSP00000349147:I475N;ENSP00000406492:I404N;ENSP00000359559:I404N;ENSP00000359565:I110N	ENSP00000349147:I475N	I	+	2	0	CNNM1	101080558	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.863000	0.87023	1.902000	0.55061	0.379000	0.24179	ATT		0.602	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		24	56	0	0	0	1	0	24	56				
CRELD2	79174	broad.mit.edu	37	22	50316911	50316911	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr22:50316911C>G	ENST00000328268.4	+	7	792	c.718C>G	c.(718-720)Ccc>Gcc	p.P240A	CRELD2_ENST00000407217.3_Missense_Mutation_p.P240A|CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000404488.3_Missense_Mutation_p.P289A	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	240						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGCCGCCTCCCTGCAGCGC	0.692																																						ENST00000404488.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9						c.(865-867)Ccc>Gcc		cysteine-rich with EGF-like domains 2							21.0	24.0	23.0					22																	50316911		2201	4294	6495	SO:0001583	missense	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50316911C>G	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.718C>G	22.37:g.50316911C>G	ENSP00000332223:p.Pro240Ala					CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000407217.3_Missense_Mutation_p.P240A|CRELD2_ENST00000328268.4_Missense_Mutation_p.P240A|CRELD2_ENST00000403427.3_Intron	p.P289A	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	8	1000	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	240					A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Missense_Mutation	SNP	ENST00000328268.4	37	c.865C>G	CCDS14082.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.721059	0.30503	.	.	ENSG00000184164	ENST00000404488;ENST00000328268;ENST00000407217	D;D;D	0.91740	-2.32;-2.32;-2.9	4.57	3.5	0.40072	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);	0.060413	0.64402	D	0.000002	D	0.90696	0.7081	L	0.55103	1.725	0.80722	D	1	P;P;B;P;P	0.48911	0.793;0.804;0.355;0.917;0.859	B;P;B;B;B	0.49047	0.365;0.599;0.057;0.388;0.435	D	0.87951	0.2723	10	0.16420	T	0.52	.	13.4633	0.61239	0.0:0.8418:0.1582:0.0	.	240;289;240;240;240	Q6UXH1-2;Q6UXH1-5;A5GZA6;Q6UXH1;Q6UXH1-3	.;.;.;CREL2_HUMAN;.	A	289;240;240	ENSP00000383938:P289A;ENSP00000332223:P240A;ENSP00000386034:P240A	ENSP00000332223:P240A	P	+	1	0	CRELD2	48702915	0.876000	0.30132	0.212000	0.23672	0.018000	0.09664	3.775000	0.55349	2.072000	0.62099	0.585000	0.79938	CCC		0.692	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		6	37	0	0	0	1	0	6	37				
GXYLT1	283464	broad.mit.edu	37	12	42538396	42538396	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr12:42538396G>A	ENST00000398675.3	-	1	285	c.53C>T	c.(52-54)tCg>tTg	p.S18L	GXYLT1_ENST00000280876.6_Missense_Mutation_p.S18L	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	18					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GTAAAGGAGCGAGCAGAAGCC	0.746																																						ENST00000398675.3																			0				kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						c.(52-54)tCg>tTg		glucoside xylosyltransferase 1							5.0	6.0	6.0					12																	42538396		1611	3620	5231	SO:0001583	missense	283464				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr12:42538396G>A	BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.53C>T	12.37:g.42538396G>A	ENSP00000381666:p.Ser18Leu					GXYLT1_ENST00000280876.6_Missense_Mutation_p.S18L	p.S18L	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN			1	285	-			18					B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	ENST00000398675.3	37	c.53C>T	CCDS41772.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132936	0.56828	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	.	.	.	3.41	3.41	0.39046	.	0.185405	0.36972	U	0.002308	T	0.54806	0.1881	L	0.27053	0.805	0.39726	D	0.971536	D;D	0.89917	1.0;0.997	D;D	0.79108	0.992;0.953	T	0.50432	-0.8829	9	0.20046	T	0.44	.	11.6591	0.51337	0.0:0.0:1.0:0.0	.	18;18	Q4G148-2;Q4G148	.;GXLT1_HUMAN	L	18	.	ENSP00000280876:S18L	S	-	2	0	GXYLT1	40824663	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	2.121000	0.41977	1.722000	0.51474	0.491000	0.48974	TCG		0.746	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403778.1	XM_290597		3	8	0	0	0	1	0	3	8				
LACRT	90070	broad.mit.edu	37	12	55025612	55025612	+	Missense_Mutation	SNP	C	C	G	rs562627949		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr12:55025612C>G	ENST00000257867.4	-	4	318	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	LACRT_ENST00000547511.1_Intron	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	89					calcineurin-NFAT signaling cascade (GO:0033173)|calcium-mediated signaling (GO:0019722)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of secretion (GO:0051047)|protein localization to Golgi apparatus (GO:0034067)|tear secretion (GO:0070075)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|growth factor activity (GO:0008083)|laminin-1 binding (GO:0043237)|protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						ATACTTTTCTCCACTATGGAT	0.458																																						ENST00000257867.4																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						c.(265-267)Gag>Cag		lacritin							172.0	157.0	162.0					12																	55025612		2203	4300	6503	SO:0001583	missense	90070				calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding	g.chr12:55025612C>G	AF238867	CCDS8883.1	12q13.2	2014-06-13			ENSG00000135413				16430	protein-coding gene	gene with protein product		607360				11419941	Standard	NM_033277		Approved	LACRITIN	uc001sgi.1	Q9GZZ8	OTTHUMG00000169936	ENST00000257867.4:c.265G>C	12.37:g.55025612C>G	ENSP00000257867:p.Glu89Gln					LACRT_ENST00000547511.1_Intron	p.E89Q	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN			4	318	-			89						Missense_Mutation	SNP	ENST00000257867.4	37	c.265G>C	CCDS8883.1	.	.	.	.	.	.	.	.	.	.	C	7.643	0.681318	0.14907	.	.	ENSG00000135413	ENST00000257867	.	.	.	2.52	-2.36	0.06663	.	.	.	.	.	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	P	0.45827	0.867	P	0.47015	0.534	T	0.12708	-1.0537	7	.	.	.	.	3.7363	0.08511	0.0:0.29:0.4043:0.3057	.	89	Q9GZZ8	LACRT_HUMAN	Q	89	.	.	E	-	1	0	LACRT	53311879	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.054000	0.03496	-0.577000	0.05967	0.462000	0.41574	GAG		0.458	LACRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406615.1	NM_033277		41	120	0	0	0	1	0	41	120				
SBNO1	55206	broad.mit.edu	37	12	123789230	123789230	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr12:123789230C>G	ENST00000602398.1	-	29	3794	c.3667G>C	c.(3667-3669)Gaa>Caa	p.E1223Q	SBNO1_ENST00000267176.4_Missense_Mutation_p.E1222Q|SBNO1_ENST00000602750.1_Missense_Mutation_p.E1222Q|SBNO1_ENST00000420886.2_Missense_Mutation_p.E1223Q			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1223					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GGATTCACTTCTTTAACTAAG	0.269																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3667-3669)Gaa>Caa		strawberry notch homolog 1 (Drosophila)							42.0	44.0	43.0					12																	123789230		2202	4298	6500	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123789230C>G	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3667G>C	12.37:g.123789230C>G	ENSP00000473665:p.Glu1223Gln					SBNO1_ENST00000602750.1_Missense_Mutation_p.E1222Q|SBNO1_ENST00000602398.1_Missense_Mutation_p.E1223Q|SBNO1_ENST00000267176.4_Missense_Mutation_p.E1222Q	p.E1223Q	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	28	3666	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1223					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.3667G>C	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087086	0.55861	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.82893	-1.66;-1.66	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	L	0.33624	1.015	0.80722	D	1	B;B;B	0.25955	0.085;0.138;0.078	B;B;B	0.21917	0.017;0.037;0.013	T	0.70249	-0.4924	10	0.18710	T	0.47	-35.7652	20.5948	0.99439	0.0:1.0:0.0:0.0	.	1223;1222;334	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	Q	1223;1222	ENSP00000387361:E1223Q;ENSP00000267176:E1222Q	ENSP00000267176:E1222Q	E	-	1	0	SBNO1	122355183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.415000	0.80131	2.873000	0.98535	0.563000	0.77884	GAA		0.269	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		29	95	0	0	0	1	0	29	95				
TMEM182	130827	broad.mit.edu	37	2	103414410	103414410	+	Silent	SNP	C	C	T	rs140175654		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr2:103414410C>T	ENST00000412401.2	+	4	625	c.420C>T	c.(418-420)ttC>ttT	p.F140F	TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Silent_p.F97F|TMEM182_ENST00000409528.1_Silent_p.F44F	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	140						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CAGCCCCCTTCGCCAGCCATT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		14854	0.0		0.001	False		,,,				2504	0.0					ENST00000412401.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(418-420)ttC>ttT		transmembrane protein 182		C		0,4406		0,0,2203	79.0	83.0	82.0		420	-8.5	0.1	2	dbSNP_134	82	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	TMEM182	NM_144632.3		0,6,6497	TT,TC,CC		0.0698,0.0,0.0461		140/230	103414410	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	130827					integral to membrane		g.chr2:103414410C>T	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.420C>T	2.37:g.103414410C>T						TMEM182_ENST00000409173.1_Silent_p.F97F|TMEM182_ENST00000409528.1_Silent_p.F44F|TMEM182_ENST00000486293.1_3'UTR	p.F140F	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN			4	625	+			140					C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Silent	SNP	ENST00000412401.2	37	c.420C>T	CCDS2064.1																																																																																				0.517	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632		33	83	0	0	0	1	0	33	83				
FBLN7	129804	broad.mit.edu	37	2	112922711	112922711	+	Silent	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr2:112922711C>T	ENST00000331203.2	+	3	640	c.369C>T	c.(367-369)ccC>ccT	p.P123P	FBLN7_ENST00000409903.1_Silent_p.P123P|FBLN7_ENST00000409667.3_Silent_p.P123P|FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409450.3_Silent_p.P123P	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	123	Sushi. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGTGTCTTCCCAATGGCACCT	0.562																																						ENST00000331203.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(367-369)ccC>ccT		fibulin 7							91.0	84.0	86.0					2																	112922711		2203	4300	6503	SO:0001819	synonymous_variant	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112922711C>T		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.369C>T	2.37:g.112922711C>T						FBLN7_ENST00000409903.1_Silent_p.P123P|FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409667.3_Silent_p.P123P|FBLN7_ENST00000409450.3_Silent_p.P123P	p.P123P	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN			3	640	+			123			Sushi.		A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Silent	SNP	ENST00000331203.2	37	c.369C>T	CCDS2095.1																																																																																				0.562	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		28	65	0	0	0	1	0	28	65				
CC2D1A	54862	broad.mit.edu	37	19	14024411	14024411	+	Silent	SNP	A	A	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:14024411A>G	ENST00000318003.7	+	6	949	c.708A>G	c.(706-708)ccA>ccG	p.P236P	CC2D1A_ENST00000589606.1_Silent_p.P236P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	236	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCACCGCCCCAGCCTCATCTC	0.672																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(706-708)ccA>ccG		coiled-coil and C2 domain containing 1A							21.0	25.0	24.0					19																	14024411		1933	4117	6050	SO:0001819	synonymous_variant	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14024411A>G	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.708A>G	19.37:g.14024411A>G						CC2D1A_ENST00000589606.1_Silent_p.P236P	p.P236P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		6	949	+			236			Pro-rich.		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Silent	SNP	ENST00000318003.7	37	c.708A>G	CCDS42512.1																																																																																				0.672	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		8	32	0	0	0	1	0	8	32				
KREMEN2	79412	broad.mit.edu	37	16	3014913	3014913	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr16:3014913C>T	ENST00000303746.5	+	2	725	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	KREMEN2_ENST00000575769.1_Missense_Mutation_p.R50C|KREMEN2_ENST00000319500.6_Missense_Mutation_p.R50C|KREMEN2_ENST00000575885.1_Missense_Mutation_p.R50C|KREMEN2_ENST00000572045.1_Missense_Mutation_p.R50C|KREMEN2_ENST00000571007.1_Missense_Mutation_p.R50C			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	50	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						CCACCAGAACCGCACTggccc	0.726																																						ENST00000572045.1																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						c.(148-150)Cgc>Tgc		kringle containing transmembrane protein 2							12.0	14.0	13.0					16																	3014913		2181	4283	6464	SO:0001583	missense	79412				Wnt receptor signaling pathway	integral to membrane		g.chr16:3014913C>T	BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.148C>T	16.37:g.3014913C>T	ENSP00000304422:p.Arg50Cys					KREMEN2_ENST00000575885.1_Missense_Mutation_p.R50C|KREMEN2_ENST00000571007.1_Missense_Mutation_p.R50C|KREMEN2_ENST00000303746.5_Missense_Mutation_p.R50C|KREMEN2_ENST00000319500.6_Missense_Mutation_p.R50C|KREMEN2_ENST00000575769.1_Missense_Mutation_p.R50C	p.R50C	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN			2	453	+			50			Kringle.		B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Missense_Mutation	SNP	ENST00000303746.5	37	c.148C>T	CCDS10483.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980667	0.92982	.	.	ENSG00000131650	ENST00000303746;ENST00000319500	T;T	0.62941	-0.01;-0.01	4.69	3.72	0.42706	Kringle (5);Kringle-like fold (1);	0.598403	0.14817	N	0.296708	T	0.74076	0.3669	M	0.77820	2.39	0.44927	D	0.997942	D;D;D;D;D;D	0.76494	0.999;0.999;0.998;0.999;0.994;0.999	P;P;P;P;P;P	0.60886	0.88;0.877;0.736;0.804;0.534;0.828	T	0.71076	-0.4697	10	0.39692	T	0.17	.	9.7635	0.40545	0.0:0.8948:0.0:0.1052	.	50;50;50;50;50;50	B4DXF6;Q53F67;Q8NCW0-2;Q8NCW0-4;Q8NCW0-3;Q8NCW0	.;.;.;.;.;KREM2_HUMAN	C	50	ENSP00000304422:R50C;ENSP00000322079:R50C	ENSP00000304422:R50C	R	+	1	0	KREMEN2	2954914	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	2.579000	0.46059	0.927000	0.37143	0.561000	0.74099	CGC		0.726	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250964.2	NM_145347		3	5	0	0	0	1	0	3	5				
MAGI1	9223	broad.mit.edu	37	3	65372827	65372827	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:65372827C>T	ENST00000330909.8	-	15	2490	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Missense_Mutation_p.E831K|MAGI1_ENST00000402939.2_Intron	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	831	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCGGACATTCTCCAAAATTC	0.438																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2491-2493)Gaa>Aaa		membrane associated guanylate kinase, WW and PDZ domain containing 1							127.0	125.0	126.0					3																	65372827		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65372827C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000330909.8:c.2491G>A	3.37:g.65372827C>T	ENSP00000331157:p.Glu831Lys					MAGI1_ENST00000402939.2_Intron|MAGI1_ENST00000483466.1_Missense_Mutation_p.E831K|MAGI1_ENST00000497477.2_Intron	p.E831K	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	15	2490	-		Lung NSC(201;0.0016)	831			PDZ 4.		A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000330909.8	37	c.2491G>A	CCDS33781.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893009	0.52121	.	.	ENSG00000151276	ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466	T;T;T	0.42513	0.97;0.97;0.97	5.77	5.77	0.91146	.	.	.	.	.	T	0.42517	0.1206	N	0.08118	0	0.80722	D	1	B;D;B	0.56035	0.029;0.974;0.032	B;D;B	0.70487	0.011;0.969;0.014	T	0.26430	-1.0103	9	0.09338	T	0.73	.	18.172	0.89749	0.0:1.0:0.0:0.0	.	831;831;831	A8K188;Q96QZ7-3;Q96QZ7-5	.;.;.	K	831;727;706;831	ENSP00000331157:E831K;ENSP00000418177:E706K;ENSP00000420323:E831K	ENSP00000331157:E831K	E	-	1	0	MAGI1	65347867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.735000	0.62051	2.723000	0.93209	0.655000	0.94253	GAA		0.438	MAGI1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000349127.2	NM_004742		13	26	0	0	0	1	0	13	26				
IGHD	3495	broad.mit.edu	37	14	106311745	106311745	+	RNA	SNP	G	G	A	rs183350140		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr14:106311745G>A	ENST00000390556.2	-	0	265							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TCTTGCTGGCGGTGTGCTGGA	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		10210	0.0		0.0	False		,,,				2504	0.0					ENST00000390556.2																			0																				90.0	87.0	88.0					14																	106311745		2168	4252	6420			3495							g.chr14:106311745G>A	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106311745G>A														0	265	-								Q6P4I8|Q8WU38	RNA	SNP	ENST00000390556.2	37																																																																																						0.612	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		21	56	0	0	0	1	0	21	56				
ADCY8	114	broad.mit.edu	37	8	132051646	132051646	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:132051646G>A	ENST00000286355.5	-	1	3026	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	ADCY8_ENST00000377928.3_Missense_Mutation_p.R312W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	312					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACCGCCAGCCGGGGTATGACC	0.587										HNSCC(32;0.087)																												ENST00000286355.5																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(934-936)Cgg>Tgg		adenylate cyclase 8 (brain)							46.0	56.0	53.0					8																	132051646		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132051646G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.934C>T	8.37:g.132051646G>A	ENSP00000286355:p.Arg312Trp	HNSCC(32;0.087)				ADCY8_ENST00000377928.3_Missense_Mutation_p.R312W	p.R312W	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	3026	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		312						Missense_Mutation	SNP	ENST00000286355.5	37	c.934C>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907052	0.52333	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.79653	-1.29;-1.29	5.79	1.45	0.22620	.	0.242082	0.33753	N	0.004581	T	0.80999	0.4732	L	0.34521	1.04	0.32973	D	0.522547	D;D	0.71674	0.978;0.998	B;P	0.55667	0.265;0.781	D	0.85158	0.0990	10	0.66056	D	0.02	.	17.4645	0.87628	0.0:0.0:0.2035:0.7965	.	312;312	E7EVL1;P40145	.;ADCY8_HUMAN	W	312	ENSP00000286355:R312W;ENSP00000367161:R312W	ENSP00000286355:R312W	R	-	1	2	ADCY8	132120828	0.889000	0.30405	0.959000	0.39883	0.947000	0.59692	0.375000	0.20518	-0.045000	0.13468	0.557000	0.71058	CGG		0.587	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			23	121	0	0	0	1	0	23	121				
FA2H	79152	broad.mit.edu	37	16	74750290	74750290	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr16:74750290G>T	ENST00000219368.3	-	6	1063	c.994C>A	c.(994-996)Ctg>Atg	p.L332M	FA2H_ENST00000544337.1_Missense_Mutation_p.L119M	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN	fatty acid 2-hydroxylase	332					cell death (GO:0008219)|central nervous system myelin maintenance (GO:0032286)|fatty acid biosynthetic process (GO:0006633)|lipid modification (GO:0030258)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of cell proliferation (GO:0042127)|regulation of hair cycle (GO:0042634)|sebaceous gland cell differentiation (GO:0001949)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	fatty acid alpha-hydroxylase activity (GO:0080132)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TGGGCCTTCAGGCTGTACAGG	0.557																																						ENST00000219368.3																			0				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						c.(994-996)Ctg>Atg		fatty acid 2-hydroxylase							102.0	84.0	90.0					16																	74750290		2198	4300	6498	SO:0001583	missense	79152				cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity	g.chr16:74750290G>T	BC002679	CCDS10911.1	16q23	2013-03-04	2003-10-29	2003-10-31	ENSG00000103089	ENSG00000103089		"""Fatty acid hydroxylase domain containing"""	21197	protein-coding gene	gene with protein product	"""fatty acid hydroxylase"""	611026	"""fatty acid hydroxylase domain containing 1"", ""spastic paraplegia 35 (autosomal recessive)"""	FAXDC1, SPG35		20104589	Standard	NM_024306		Approved	FAAH, FLJ25287	uc002fde.2	Q7L5A8	OTTHUMG00000137603	ENST00000219368.3:c.994C>A	16.37:g.74750290G>T	ENSP00000219368:p.Leu332Met					FA2H_ENST00000544337.1_Missense_Mutation_p.L119M	p.L332M	NM_024306.4	NP_077282.3	Q7L5A8	FA2H_HUMAN			6	1063	-			332					B7Z8T6|O75213|Q96DK1|Q9H1A5	Missense_Mutation	SNP	ENST00000219368.3	37	c.994C>A	CCDS10911.1	.	.	.	.	.	.	.	.	.	.	g	7.188	0.590943	0.13812	.	.	ENSG00000103089	ENST00000219368;ENST00000544337	D;D	0.85258	-1.96;-1.96	5.39	0.05	0.14292	Fatty acid hydroxylase (1);	0.230498	0.45867	N	0.000324	T	0.78534	0.4298	N	0.26130	0.795	0.43798	D	0.996343	B;B	0.31009	0.166;0.303	B;B	0.38880	0.187;0.284	T	0.67348	-0.5693	10	0.18710	T	0.47	-5.109	17.1136	0.86682	0.0:0.0:0.7552:0.2447	.	332;240	Q7L5A8;B2RDE6	FA2H_HUMAN;.	M	332;119	ENSP00000219368:L332M;ENSP00000442334:L119M	ENSP00000219368:L332M	L	-	1	2	FA2H	73307791	0.984000	0.35163	0.271000	0.24616	0.233000	0.25261	1.790000	0.38734	0.031000	0.15407	-0.274000	0.10170	CTG		0.557	FA2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269015.2	NM_024306		12	23	1	0	9.31168e-06	1	9.59385e-06	12	23				
NPAP1	23742	broad.mit.edu	37	15	24923771	24923771	+	Silent	SNP	A	A	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr15:24923771A>T	ENST00000329468.2	+	1	3231	c.2757A>T	c.(2755-2757)ccA>ccT	p.P919P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	919					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TGGGGAATCCAGCAACCCCAG	0.473																																						ENST00000329468.2																			0											c.(2755-2757)ccA>ccT		nuclear pore associated protein 1							104.0	110.0	108.0					15																	24923771		2203	4300	6503	SO:0001819	synonymous_variant	23742							g.chr15:24923771A>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2757A>T	15.37:g.24923771A>T							p.P919P	NM_018958.2	NP_061831.2					1	3231	+									Silent	SNP	ENST00000329468.2	37	c.2757A>T	CCDS10015.1																																																																																				0.473	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		42	132	0	0	0	1	0	42	132				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_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	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		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.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	p.R175H	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)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	63	0	0	0	1	0	33	63				
KRTAP10-1	386677	broad.mit.edu	37	21	45959992	45959992	+	Silent	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr21:45959992G>A	ENST00000400375.1	-	1	86	c.42C>T	c.(40-42)tcC>tcT	p.S14S	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	14						keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCCAGGAGTCGGAGCAAGCGC	0.682																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(40-42)tcC>tcT		keratin associated protein 10-1							85.0	91.0	89.0					21																	45959992		2203	4300	6503	SO:0001819	synonymous_variant	386677					keratin filament		g.chr21:45959992G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.42C>T	21.37:g.45959992G>A						TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.S14S	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	86	-			14					Q0VAR0|Q0VAR1	Silent	SNP	ENST00000400375.1	37	c.42C>T	CCDS42954.1																																																																																				0.682	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			4	123	0	0	0	1	0	4	123				
FAM66D	100132923	broad.mit.edu	37	8	11986736	11986736	+	RNA	SNP	T	T	C	rs187052077		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:11986736T>C	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		TGCATCTGGCTGAGAAGATGT	0.507																																						ENST00000434078.2																			0																																																			100132923							g.chr8:11986736T>C			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11986736T>C								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.507	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		3	36	0	0	0	1	0	3	36				
INO80	54617	broad.mit.edu	37	15	41337138	41337138	+	Silent	SNP	G	G	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr15:41337138G>C	ENST00000361937.3	-	24	3295	c.2871C>G	c.(2869-2871)ctC>ctG	p.L957L	INO80_ENST00000401393.3_Silent_p.L957L			Q9ULG1	INO80_HUMAN	INO80 complex subunit	957	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGGAAAGGAGAGTGGAAAAT	0.443																																						ENST00000361937.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2869-2871)ctC>ctG		INO80 complex subunit							94.0	96.0	96.0					15																	41337138		2203	4300	6503	SO:0001819	synonymous_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41337138G>C	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2871C>G	15.37:g.41337138G>C						INO80_ENST00000401393.3_Silent_p.L957L	p.L957L			Q9ULG1	INO80_HUMAN			24	3295	-			957			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	c.2871C>G	CCDS10071.1																																																																																				0.443	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	NM_017553		52	97	0	0	0	1	0	52	97				
USP35	57558	broad.mit.edu	37	11	77907430	77907430	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:77907430C>T	ENST00000529308.1	+	2	400	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	USP35_ENST00000530267.1_Intron|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_5'Flank|USP35_ENST00000441408.2_5'Flank	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	47					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCTGGGCGCGCGCCTCTACGT	0.761																																						ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(139-141)Cgc>Tgc		ubiquitin specific peptidase 35							14.0	15.0	14.0					11																	77907430		1744	3715	5459	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77907430C>T	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.139C>T	11.37:g.77907430C>T	ENSP00000431876:p.Arg47Cys					USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron	p.R47C	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		2	400	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		47						Missense_Mutation	SNP	ENST00000529308.1	37	c.139C>T	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317164	0.23908	.	.	ENSG00000118369	ENST00000529308	T	0.06449	3.3	4.17	0.888	0.19206	.	0.840510	0.09879	N	0.743905	T	0.07007	0.0178	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	P	0.47744	0.556	T	0.45789	-0.9237	10	0.87932	D	0	-21.6196	6.324	0.21232	0.566:0.3332:0.0:0.1008	.	47	Q9P2H5	UBP35_HUMAN	C	47	ENSP00000431876:R47C	ENSP00000431876:R47C	R	+	1	0	USP35	77585078	1.000000	0.71417	0.948000	0.38648	0.026000	0.11368	1.796000	0.38794	0.413000	0.25759	-0.391000	0.06502	CGC		0.761	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		8	8	0	0	0	1	0	8	8				
EXOSC10	5394	broad.mit.edu	37	1	11141274	11141274	+	Silent	SNP	G	G	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:11141274G>T	ENST00000376936.4	-	11	1351	c.1302C>A	c.(1300-1302)ctC>ctA	p.L434L	EXOSC10_ENST00000304457.7_Silent_p.L434L|EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000544779.1_Silent_p.L434L	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	434					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GGGCGTAGCTGAGCATCTCCT	0.542																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1300-1302)ctC>ctA		exosome component 10							81.0	82.0	82.0					1																	11141274		2203	4300	6503	SO:0001819	synonymous_variant	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11141274G>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1302C>A	1.37:g.11141274G>T						EXOSC10_ENST00000376936.4_Silent_p.L434L|EXOSC10_ENST00000304457.7_Silent_p.L434L|EXOSC10_ENST00000485606.1_5'UTR	p.L434L			Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	11	1307	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	434					B1AKQ0|B1AKQ1|Q15158	Silent	SNP	ENST00000376936.4	37	c.1302C>A	CCDS30584.1																																																																																				0.542	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		33	78	1	0	1.08052e-11	1	1.18509e-11	33	78				
BTBD7	55727	broad.mit.edu	37	14	93760741	93760741	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr14:93760741T>C	ENST00000334746.5	-	3	932	c.625A>G	c.(625-627)Atg>Gtg	p.M209V	BTBD7_ENST00000393170.2_5'Flank|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.M209V|BTBD7_ENST00000555525.1_Missense_Mutation_p.M209V	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	209	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GAGTCCTCCATTCCAAACTCT	0.393																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(625-627)Atg>Gtg		BTB (POZ) domain containing 7							63.0	61.0	62.0					14																	93760741		2203	4300	6503	SO:0001583	missense	55727							g.chr14:93760741T>C	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.625A>G	14.37:g.93760741T>C	ENSP00000335615:p.Met209Val					BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000555525.1_Missense_Mutation_p.M209V|BTBD7_ENST00000298896.3_Missense_Mutation_p.M209V	p.M209V	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	932	-		all_cancers(154;0.08)	209			BTB 1.		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Missense_Mutation	SNP	ENST00000334746.5	37	c.625A>G	CCDS32146.1	.	.	.	.	.	.	.	.	.	.	T	3.746	-0.052580	0.07362	.	.	ENSG00000011114	ENST00000334746;ENST00000298896;ENST00000555525	T;T;T	0.68331	-0.32;-0.32;-0.32	5.57	4.22	0.49857	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.175683	0.64402	D	0.000008	T	0.40171	0.1106	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.36601	-0.9741	10	0.02654	T	1	.	12.0444	0.53471	0.0:0.0785:0.0:0.9215	.	209;209;209	Q9P203-3;G3V3T2;Q9P203	.;.;BTBD7_HUMAN	V	209	ENSP00000335615:M209V;ENSP00000298896:M209V;ENSP00000451408:M209V	ENSP00000298896:M209V	M	-	1	0	BTBD7	92830494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.561000	0.53770	2.122000	0.65172	0.528000	0.53228	ATG		0.393	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		40	90	0	0	0	1	0	40	90				
FPR1	2357	broad.mit.edu	37	19	52249948	52249948	+	Silent	SNP	G	G	A	rs199764870		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:52249948G>A	ENST00000595042.1	-	3	441	c.300C>T	c.(298-300)ttC>ttT	p.F100F	FPR1_ENST00000304748.4_Silent_p.F100F	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	100					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGGTAAAGACGAATTTGCACA	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		22054	0.001		0.0	False		,,,				2504	0.0					ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(298-300)ttC>ttT		formyl peptide receptor 1	Nedocromil(DB00716)						137.0	105.0	115.0					19																	52249948		2203	4300	6503	SO:0001819	synonymous_variant	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249948G>A	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.300C>T	19.37:g.52249948G>A						FPR1_ENST00000304748.4_Silent_p.F100F	p.F100F	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	441	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	100					Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	ENST00000595042.1	37	c.300C>T	CCDS12839.1																																																																																				0.532	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		30	86	0	0	0	1	0	30	86				
TEX11	56159	broad.mit.edu	37	X	70080744	70080744	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chrX:70080744G>C	ENST00000395889.2	-	6	487	c.332C>G	c.(331-333)tCa>tGa	p.S111*	TEX11_ENST00000344304.3_Nonsense_Mutation_p.S111*|TEX11_ENST00000374333.2_Nonsense_Mutation_p.S96*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	111					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TGAGGCAAATGAGGCTTCACA	0.338																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(331-333)tCa>tGa		testis expressed 11							120.0	90.0	100.0					X																	70080744		2203	4300	6503	SO:0001587	stop_gained	56159						protein binding	g.chrX:70080744G>C	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.332C>G	X.37:g.70080744G>C	ENSP00000379226:p.Ser111*					TEX11_ENST00000344304.3_Nonsense_Mutation_p.S111*|TEX11_ENST00000374333.2_Nonsense_Mutation_p.S96*	p.S111*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			6	487	-	Renal(35;0.156)		111					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	ENST00000395889.2	37	c.332C>G	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.720980	0.48728	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	.	.	.	4.83	0.673	0.17941	.	0.774326	0.11683	N	0.539611	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.124	2.8901	0.05674	0.3517:0.0:0.4307:0.2177	.	.	.	.	X	96;111;111	.	.	S	-	2	0	TEX11	69997469	0.002000	0.14202	0.006000	0.13384	0.123000	0.20343	0.292000	0.19011	0.115000	0.18071	0.506000	0.49869	TCA		0.338	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			15	14	0	0	0	1	0	15	14				
TRIM28	10155	broad.mit.edu	37	19	59061536	59061536	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:59061536A>T	ENST00000253024.5	+	16	2505	c.2216A>T	c.(2215-2217)gAt>gTt	p.D739V	TRIM28_ENST00000341753.6_Missense_Mutation_p.D657V	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	739	Bromo.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCACCCTGGATCTGACCCTG	0.582																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(2215-2217)gAt>gTt		tripartite motif containing 28							48.0	42.0	44.0					19																	59061536		2203	4300	6503	SO:0001583	missense	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59061536A>T		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.2216A>T	19.37:g.59061536A>T	ENSP00000253024:p.Asp739Val					TRIM28_ENST00000341753.6_Missense_Mutation_p.D657V	p.D739V	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	16	2505	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	739			Bromo.		O00677|Q7Z632|Q93040|Q96IM1	Missense_Mutation	SNP	ENST00000253024.5	37	c.2216A>T	CCDS12985.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.838770	0.71373	.	.	ENSG00000130726	ENST00000253024;ENST00000341753	T;T	0.59364	0.27;0.27	4.76	4.76	0.60689	Bromodomain (2);	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	L	0.57536	1.79	0.58432	D	0.999993	D;D;D	0.67145	0.996;0.982;0.994	D;D;D	0.87578	0.998;0.971;0.994	T	0.74156	-0.3756	10	0.87932	D	0	-44.4037	12.5555	0.56250	1.0:0.0:0.0:0.0	.	657;739;739	Q13263-2;B2R8R5;Q13263	.;.;TIF1B_HUMAN	V	739;657	ENSP00000253024:D739V;ENSP00000342232:D657V	ENSP00000253024:D739V	D	+	2	0	TRIM28	63753348	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.559000	0.67326	2.138000	0.66242	0.368000	0.22195	GAT		0.582	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		12	27	0	0	0	1	0	12	27				
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	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_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	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		14	27	0	0	0	1	0	14	27				
PCDHA4	56144	broad.mit.edu	37	5	140186912	140186912	+	Missense_Mutation	SNP	G	G	A	rs199939862		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr5:140186912G>A	ENST00000530339.1	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA4_ENST00000512229.2_Missense_Mutation_p.R47H|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R47H|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.662																																						ENST00000530339.1																			0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(139-141)cGc>cAc									54.0	61.0	58.0					5																	140186912		2203	4300	6503	SO:0001583	missense	56144							g.chr5:140186912G>A	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.140G>A	5.37:g.140186912G>A	ENSP00000435300:p.Arg47His					PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R47H|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R47H|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.R47H	NM_018907.2	NP_061730.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	140	+								O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.140G>A	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	g	23.2	4.392442	0.83011	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.27256	1.68;1.68;1.68	4.73	4.73	0.59995	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.40640	U	0.001042	T	0.33000	0.0848	M	0.66560	2.04	0.31889	N	0.617427	P;P;P	0.48162	0.805;0.906;0.906	B;B;B	0.41894	0.21;0.369;0.369	T	0.52358	-0.8586	10	0.72032	D	0.01	.	18.1393	0.89634	0.0:0.0:1.0:0.0	.	47;47;47	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	H	47	ENSP00000423470:R47H;ENSP00000349344:R47H;ENSP00000435300:R47H	ENSP00000349344:R47H	R	+	2	0	PCDHA4	140167096	0.000000	0.05858	1.000000	0.80357	0.963000	0.63663	0.992000	0.29667	2.369000	0.80426	0.461000	0.40582	CGC		0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		4	145	0	0	0	1	0	4	145				
KIAA1958	158405	broad.mit.edu	37	9	115336584	115336584	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr9:115336584A>T	ENST00000337530.6	+	2	520	c.224A>T	c.(223-225)cAg>cTg	p.Q75L	KIAA1958_ENST00000374244.3_Missense_Mutation_p.Q75L|KIAA1958_ENST00000536272.1_Missense_Mutation_p.Q75L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	75										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GTCTGTTTCCAGGATAACAGA	0.517																																						ENST00000337530.6																			0				endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						c.(223-225)cAg>cTg		KIAA1958							50.0	50.0	50.0					9																	115336584		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115336584A>T	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.224A>T	9.37:g.115336584A>T	ENSP00000336940:p.Gln75Leu					KIAA1958_ENST00000536272.1_Missense_Mutation_p.Q75L|KIAA1958_ENST00000374244.3_Missense_Mutation_p.Q75L	p.Q75L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN			2	520	+			75					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.224A>T	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858959	0.71834	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	.	.	.	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000002	T	0.65302	0.2678	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.63880	0.993;0.967	D;D	0.72338	0.977;0.932	T	0.69617	-0.5097	9	0.87932	D	0	-25.3412	16.6127	0.84892	1.0:0.0:0.0:0.0	.	75;75	B7ZKW6;Q8N8K9	.;K1958_HUMAN	L	75	.	ENSP00000336940:Q75L	Q	+	2	0	KIAA1958	114376405	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.143000	0.58051	2.322000	0.78497	0.528000	0.53228	CAG		0.517	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		4	81	0	0	0	1	0	4	81				
POT1	25913	broad.mit.edu	37	7	124491999	124491999	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:124491999T>G	ENST00000357628.3	-	11	1474	c.876A>C	c.(874-876)ttA>ttC	p.L292F	POT1_ENST00000393329.1_Missense_Mutation_p.L161F	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	292					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTGCAGATTCTAAATCCCTAT	0.313																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(874-876)ttA>ttC		protection of telomeres 1							53.0	51.0	52.0					7																	124491999		2203	4298	6501	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124491999T>G	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.876A>C	7.37:g.124491999T>G	ENSP00000350249:p.Leu292Phe					POT1_ENST00000393329.1_Missense_Mutation_p.L161F	p.L292F	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			11	1474	-			292					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.876A>C	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.910019	0.72983	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.53640	0.68;0.61	5.44	4.29	0.51040	Nucleic acid-binding, OB-fold-like (1);	0.678176	0.14510	N	0.315149	T	0.63331	0.2502	M	0.77103	2.36	0.50467	D	0.999877	D	0.71674	0.998	P	0.61533	0.89	T	0.64330	-0.6433	10	0.54805	T	0.06	-2.1909	8.6381	0.33962	0.0:0.0875:0.0:0.9125	.	292	Q9NUX5	POTE1_HUMAN	F	292;161;292;292;292;291	ENSP00000350249:L292F;ENSP00000377002:L161F	ENSP00000265391:L291F	L	-	3	2	POT1	124279235	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.615000	0.46368	2.187000	0.69744	0.477000	0.44152	TTA		0.313	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			16	27	0	0	0	1	0	16	27				
PLXNA2	5362	broad.mit.edu	37	1	208219239	208219239	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:208219239G>C	ENST00000367033.3	-	18	4236	c.3479C>G	c.(3478-3480)tCg>tGg	p.S1160W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1160	IPT/TIG 4.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AATGATGGGCGATCCTGGCTT	0.542																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3478-3480)tCg>tGg		plexin A2							125.0	123.0	123.0					1																	208219239		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208219239G>C	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3479C>G	1.37:g.208219239G>C	ENSP00000356000:p.Ser1160Trp						p.S1160W	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	18	4236	-			1160			IPT/TIG 4.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3479C>G	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909242	0.72868	.	.	ENSG00000076356	ENST00000367033	T	0.60171	0.21	4.6	4.6	0.57074	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.194877	0.53938	D	0.000044	T	0.80899	0.4712	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85894	0.1430	10	0.87932	D	0	.	17.7875	0.88542	0.0:0.0:1.0:0.0	.	1160	O75051	PLXA2_HUMAN	W	1160	ENSP00000356000:S1160W	ENSP00000356000:S1160W	S	-	2	0	PLXNA2	206285862	1.000000	0.71417	0.883000	0.34634	0.633000	0.38033	9.451000	0.97610	2.262000	0.75019	0.563000	0.77884	TCG		0.542	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		30	125	0	0	0	1	0	30	125				
BPIFB4	149954	broad.mit.edu	37	20	31680265	31680265	+	Splice_Site	SNP	C	C	T	rs151182059	byFrequency	TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr20:31680265C>T	ENST00000375483.3	+	9	1145	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	382						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CTCCCCCAGACGCTGGTTGGG	0.607													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20101	0.0		0.0	False		,,,				2504	0.0					ENST00000375483.3																			0											c.e9-1		BPI fold containing family B, member 4		C	MET/THR	10,4396	15.5+/-35.6	0,10,2193	33.0	30.0	31.0		1145	5.2	0.9	20	dbSNP_134	31	0,8600		0,0,4300	yes	missense-near-splice	BPIFB4	NM_182519.2	81	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	probably-damaging	382/615	31680265	10,12996	2203	4300	6503	SO:0001630	splice_region_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31680265C>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1144-1C>T	20.37:g.31680265C>T							p.T382_splice	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			9	1145	+			382					Q5TDX6	Splice_Site	SNP	ENST00000375483.3	37	c.1143_splice	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542389	0.45280	0.00227	0.0	ENSG00000186191	ENST00000375483	T	0.07114	3.22	5.25	5.25	0.73442	.	0.386571	0.26616	N	0.023390	T	0.16041	0.0386	L	0.40543	1.245	0.38861	D	0.956481	D	0.67145	0.996	P	0.55455	0.776	T	0.00527	-1.1688	10	0.56958	D	0.05	-4.3862	14.7594	0.69593	0.0:1.0:0.0:0.0	.	382	P59827	BPIB4_HUMAN	M	382	ENSP00000364632:T382M	ENSP00000364632:T382M	T	+	2	0	BPIFB4	31143926	0.970000	0.33590	0.889000	0.34880	0.076000	0.17211	1.993000	0.40747	2.624000	0.88883	0.465000	0.42564	ACG		0.607	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519	Missense_Mutation	11	25	0	0	0	1	0	11	25				
MS4A8	83661	broad.mit.edu	37	11	60474521	60474521	+	Splice_Site	SNP	G	G	A	rs377663582		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:60474521G>A	ENST00000300226.2	+	4	605		c.e4+1			NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8							integral component of membrane (GO:0016021)											TTATTGCCTGGTAAGTTACAT	0.463																																						ENST00000300226.2																			0											c.e4+1		membrane-spanning 4-domains, subfamily A, member 8		G		0,4406		0,0,2203	197.0	195.0	195.0			4.1	1.0	11		195	1,8599	1.2+/-3.3	0,1,4299	no	splice-5	MS4A8B	NM_031457.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			60474521	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	83661							g.chr11:60474521G>A	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.402+1G>A	11.37:g.60474521G>A								NM_031457.1	NP_113645.1					4	605	+								Q8TCA5	Splice_Site	SNP	ENST00000300226.2	37		CCDS7990.1	.	.	.	.	.	.	.	.	.	.	G	8.870	0.949001	0.18356	0.0	1.16E-4	ENSG00000166959	ENST00000300226;ENST00000529752;ENST00000525458	.	.	.	4.08	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.676	0.51430	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MS4A8B	60231097	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.620000	0.54203	2.118000	0.64928	0.579000	0.79373	.		0.463	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1		Intron	4	119	0	0	0	1	0	4	119				
PNPLA8	50640	broad.mit.edu	37	7	108137094	108137094	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:108137094A>T	ENST00000422087.1	-	8	1965	c.1559T>A	c.(1558-1560)gTt>gAt	p.V520D	PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000453144.1_Missense_Mutation_p.V420D|PNPLA8_ENST00000426128.2_Missense_Mutation_p.V520D|PNPLA8_ENST00000257694.8_Missense_Mutation_p.V520D|PNPLA8_ENST00000388728.5_Missense_Mutation_p.V520D|PNPLA8_ENST00000436062.1_Missense_Mutation_p.V520D	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	520	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TACTGTTCCAACAATGACATT	0.323																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(1558-1560)gTt>gAt		patatin-like phospholipase domain containing 8							90.0	87.0	88.0					7																	108137094		2203	4300	6503	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108137094A>T	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1559T>A	7.37:g.108137094A>T	ENSP00000410804:p.Val520Asp					PNPLA8_ENST00000422087.1_Missense_Mutation_p.V520D|PNPLA8_ENST00000257694.8_Missense_Mutation_p.V520D|PNPLA8_ENST00000436062.1_Missense_Mutation_p.V520D|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000453144.1_Missense_Mutation_p.V420D|PNPLA8_ENST00000388728.5_Missense_Mutation_p.V520D	p.V520D	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			6	1684	-			520			Patatin.		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.1559T>A	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.046972	0.93740	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.67	5.67	0.87782	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.060620	0.64402	D	0.000004	D	0.88808	0.6537	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.89325	0.3643	10	0.54805	T	0.06	.	15.9012	0.79377	1.0:0.0:0.0:0.0	.	520	Q9NP80	PLPL8_HUMAN	D	520;520;520;520;420;520;420	ENSP00000394988:V520D;ENSP00000257694:V520D;ENSP00000373380:V520D;ENSP00000410804:V520D;ENSP00000387789:V420D;ENSP00000406779:V520D;ENSP00000402274:V420D	ENSP00000257694:V520D	V	-	2	0	PNPLA8	107924330	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.266000	0.95659	2.162000	0.67917	0.477000	0.44152	GTT		0.323	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		4	138	0	0	0	1	0	4	138				
POLR2K	5440	broad.mit.edu	37	8	101163637	101163637	+	Silent	SNP	C	C	A	rs369031456		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:101163637C>A	ENST00000353107.3	+	2	189	c.54C>A	c.(52-54)atC>atA	p.I18I	POLR2K_ENST00000519765.1_3'UTR|POLR2K_ENST00000522439.1_Silent_p.I18I	NM_005034.3	NP_005025.1	P53803	RPAB4_HUMAN	polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa	18					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|prostate(1)	3	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TGATATATATCTGTGGAGGTA	0.343																																						ENST00000353107.3																			0				large_intestine(1)|lung(1)|prostate(1)	3						c.(52-54)atC>atA		polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa							92.0	92.0	92.0					8																	101163637		2203	4300	6503	SO:0001819	synonymous_variant	5440				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding	g.chr8:101163637C>A		CCDS6285.1	8q22	2013-01-21	2002-08-29		ENSG00000147669	ENSG00000147669		"""RNA polymerase subunits"""	9198	protein-coding gene	gene with protein product		606033	"""polymerase (RNA) II (DNA directed) polypeptide K (7.0kD)"""				Standard	NM_005034		Approved	RPB10alpha	uc003yjf.3	P53803	OTTHUMG00000164705	ENST00000353107.3:c.54C>A	8.37:g.101163637C>A						POLR2K_ENST00000522439.1_Silent_p.I18I|POLR2K_ENST00000519765.1_3'UTR	p.I18I	NM_005034.3	NP_005025.1	P53803	RPAB4_HUMAN	Epithelial(11;1.59e-09)|all cancers(13;1.74e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	189	+	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		18					Q6IBD4	Silent	SNP	ENST00000353107.3	37	c.54C>A	CCDS6285.1																																																																																				0.343	POLR2K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379849.1	NM_005034		102	140	1	0	2.00226e-37	1	2.3208e-37	102	140				
DVL1	1855	broad.mit.edu	37	1	1271768	1271768	+	Silent	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:1271768G>A	ENST00000378888.5	-	15	2126	c.1842C>T	c.(1840-1842)agC>agT	p.S614S	DVL1_ENST00000378891.5_Silent_p.S589S			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	614					axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTCGCCAGCTGCTCCCCACCC	0.766																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(1840-1842)agC>agT		dishevelled segment polarity protein 1							12.0	13.0	13.0					1																	1271768		2029	4032	6061	SO:0001819	synonymous_variant	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1271768G>A	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.1842C>T	1.37:g.1271768G>A						DVL1_ENST00000378891.5_Silent_p.S589S	p.S614S			O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	15	2126	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	614					Q5TA33|Q5TA35	Silent	SNP	ENST00000378888.5	37	c.1842C>T																																																																																					0.766	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421		10	24	0	0	0	1	0	10	24				
ROR1	4919	broad.mit.edu	37	1	64643994	64643994	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:64643994G>A	ENST00000371079.1	+	9	2645	c.2270G>A	c.(2269-2271)aGc>aAc	p.S757N	ROR1_ENST00000545203.1_Missense_Mutation_p.S208N	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	757	Ser/Thr-rich.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AGTCACACAAGCTCTACTACT	0.493																																						ENST00000371079.1																			0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(2269-2271)aGc>aAc		receptor tyrosine kinase-like orphan receptor 1							61.0	65.0	64.0					1																	64643994		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64643994G>A	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2270G>A	1.37:g.64643994G>A	ENSP00000360120:p.Ser757Asn					ROR1_ENST00000545203.1_Missense_Mutation_p.S208N	p.S757N	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN			9	2645	+			757			Ser/Thr-rich.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.2270G>A	CCDS626.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250726	0.59212	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.62364	0.03;0.03	5.98	5.98	0.97165	.	0.000000	0.51477	D	0.000099	T	0.54319	0.1851	L	0.50333	1.59	0.80722	D	1	B	0.21147	0.052	B	0.30716	0.119	T	0.53648	-0.8409	10	0.72032	D	0.01	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	757	Q01973	ROR1_HUMAN	N	757;760;208	ENSP00000360120:S757N;ENSP00000441637:S208N	ENSP00000360120:S757N	S	+	2	0	ROR1	64416582	1.000000	0.71417	0.999000	0.59377	0.844000	0.47949	9.476000	0.97823	2.847000	0.97988	0.591000	0.81541	AGC		0.493	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		23	74	0	0	0	1	0	23	74				
IPO7	10527	broad.mit.edu	37	11	9455372	9455372	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:9455372G>A	ENST00000379719.3	+	18	2195	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	685					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CTTTCAGCAAGATGGCTTTGA	0.403																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(2053-2055)Gat>Aat		importin 7							84.0	79.0	81.0					11																	9455372		2201	4295	6496	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9455372G>A	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.2053G>A	11.37:g.9455372G>A	ENSP00000369042:p.Asp685Asn						p.D685N	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	18	2195	+			685					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.2053G>A	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572875	0.86542	.	.	ENSG00000205339	ENST00000379719	T	0.45668	0.89	5.28	5.28	0.74379	Armadillo-type fold (1);	0.138952	0.64402	D	0.000004	T	0.51295	0.1666	M	0.69185	2.1	0.80722	D	1	P	0.45715	0.865	P	0.49226	0.603	T	0.43163	-0.9408	10	0.20519	T	0.43	.	17.1563	0.86792	0.0:0.0:1.0:0.0	.	685	O95373	IPO7_HUMAN	N	685	ENSP00000369042:D685N	ENSP00000369042:D685N	D	+	1	0	IPO7	9411948	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	9.868000	0.99621	2.497000	0.84241	0.558000	0.71614	GAT		0.403	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		6	133	0	0	0	1	0	6	133				
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	T	rs371769427		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr21:44524456G>T	ENST00000291552.4	-	2	193	c.101C>A	c.(100-102)tCt>tAt	p.S34Y	U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34Y	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"""CLL, MDS"""																																	ENST00000291552.4				Dom	yes		21	21q22.3	7307	Mis	U2 small nuclear RNA auxiliary factor 1			L			"""CLL, MDS"""		57	Substitution - Missense(57)	p.S34F(45)|p.S34Y(12)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						c.(100-102)tCt>tAt		U2 small nuclear RNA auxiliary factor 1							67.0	64.0	65.0					21																	44524456		2203	4300	6503	SO:0001583	missense	7307				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	g.chr21:44524456G>T	BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"""RNA binding motif (RRM) containing"""	12453	protein-coding gene	gene with protein product		191317	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein"", ""U2(RNU2) small nuclear RNA auxiliary factor 1"""	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>A	21.37:g.44524456G>T	ENSP00000291552:p.Ser34Tyr					U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34Y|U2AF1_ENST00000486519.1_5'UTR	p.S34Y	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN			2	193	-			34					Q701P4|Q71RF1	Missense_Mutation	SNP	ENST00000291552.4	37	c.101C>A	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962845	0.92791	.	.	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	Y	34	ENSP00000369629:S34Y;ENSP00000291552:S34Y	ENSP00000291552:S34Y	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195541.1	NM_006758		11	35	1	0	0.00136819	1	0.00139556	11	35				
HLA-E	3133	broad.mit.edu	37	6	30457630	30457630	+	Silent	SNP	G	G	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr6:30457630G>T	ENST00000376630.4	+	2	257	c.192G>T	c.(190-192)ccG>ccT	p.P64P		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	64	Alpha-1.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CCGCGAGTCCGAGGATGGTGC	0.677																																						ENST00000376630.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						c.(190-192)ccG>ccT		major histocompatibility complex, class I, E							62.0	70.0	67.0					6																	30457630		1510	2708	4218	SO:0001819	synonymous_variant	3133				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:30457630G>T	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.192G>T	6.37:g.30457630G>T							p.P64P	NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN			2	257	+			64			Alpha-1.		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Silent	SNP	ENST00000376630.4	37	c.192G>T	CCDS34379.1																																																																																				0.677	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		42	66	1	0	3.70713e-34	1	4.24862e-34	42	66				
ACOT11	26027	broad.mit.edu	37	1	55065012	55065012	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:55065012T>C	ENST00000371316.3	+	8	890	c.808T>C	c.(808-810)Ttc>Ctc	p.F270L	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.F270L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	270	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process (GO:0006631)|intracellular signal transduction (GO:0035556)|response to cold (GO:0009409)|response to temperature stimulus (GO:0009266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CATTGAAATGTTCCACTTCCG	0.612																																					Ovarian(148;1440 1861 22015 32453 51933)	ENST00000371316.3																			0				NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						c.(808-810)Ttc>Ctc		acyl-CoA thioesterase 11							128.0	122.0	124.0					1																	55065012		2203	4300	6503	SO:0001583	missense	26027				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	g.chr1:55065012T>C	AB014607	CCDS592.1, CCDS593.1	1p32.3	2011-09-13	2005-09-08	2005-09-08	ENSG00000162390	ENSG00000162390	3.1.2.-	"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	18156	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 14"""	606803	"""thioesterase, adipose associated"""	THEA		11696000, 16103133, 16940157	Standard	NM_015547		Approved	STARD14, BFIT, KIAA0707, BFIT1, THEM1	uc001cxl.2	Q8WXI4	OTTHUMG00000009891	ENST00000371316.3:c.808T>C	1.37:g.55065012T>C	ENSP00000360366:p.Phe270Leu					ACOT11_ENST00000343744.2_Missense_Mutation_p.F270L|ACOT11_ENST00000481208.1_3'UTR	p.F270L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN			8	890	+			270			Acyl coenzyme A hydrolase 2.		B1AQ22|D3DQ50|O75187|Q52LP1|Q53ER9|Q96DI1|Q9H883	Missense_Mutation	SNP	ENST00000371316.3	37	c.808T>C	CCDS592.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.883080	0.91740	.	.	ENSG00000162390	ENST00000343744;ENST00000371316	T;T	0.19105	2.17;2.17	5.27	5.27	0.74061	Thioesterase superfamily (1);	0.000000	0.85682	D	0.000000	T	0.33644	0.0870	L	0.33668	1.02	0.80722	D	1	P;D	0.64830	0.846;0.994	P;D	0.66497	0.68;0.944	T	0.03184	-1.1063	10	0.38643	T	0.18	-20.1132	15.1876	0.73016	0.0:0.0:0.0:1.0	.	270;270	Q8WXI4;Q8WXI4-2	ACO11_HUMAN;.	L	270	ENSP00000340260:F270L;ENSP00000360366:F270L	ENSP00000340260:F270L	F	+	1	0	ACOT11	54837600	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.765000	0.85310	1.988000	0.58038	0.459000	0.35465	TTC		0.612	ACOT11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027356.1	NM_015547		52	116	0	0	0	1	0	52	116				
TMPRSS15	5651	broad.mit.edu	37	21	19666606	19666606	+	Missense_Mutation	SNP	C	C	T	rs548456872		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr21:19666606C>T	ENST00000284885.3	-	21	2500	c.2467G>A	c.(2467-2469)Gcc>Acc	p.A823T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	823	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAGTGTGCGGCGGACACCAGC	0.577													C|||	0	0.0	0.0	0.0	5008	,	,		12565	0.0		0.0	False		,,,				2504	0.0					ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2467-2469)Gcc>Acc		transmembrane protease, serine 15							61.0	62.0	61.0					21																	19666606		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666606C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2467G>A	21.37:g.19666606C>T	ENSP00000284885:p.Ala823Thr						p.A823T	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			21	2500	-			823			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2467G>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081727	0.94050	.	.	ENSG00000154646	ENST00000284885	D	0.95238	-3.65	5.79	5.79	0.91817	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98033	0.9352	M	0.93720	3.45	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98821	1.0747	9	.	.	.	.	17.5226	0.87791	0.0:1.0:0.0:0.0	.	823	P98073	ENTK_HUMAN	T	823	ENSP00000284885:A823T	.	A	-	1	0	TMPRSS15	18588477	1.000000	0.71417	0.523000	0.27875	0.958000	0.62258	6.497000	0.73674	2.729000	0.93468	0.643000	0.83706	GCC		0.577	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		21	64	0	0	0	1	0	21	64				
LINC00475	158314	broad.mit.edu	37	9	94903918	94903918	+	RNA	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr9:94903918C>G	ENST00000416438.2	+	0	170					NR_027341.1				long intergenic non-protein coding RNA 475																		ACCTGGATCCCCTGACGGCTT	0.662																																						ENST00000416438.2																			0																																																			158314							g.chr9:94903918C>G	AK023662		9q22.31	2012-10-12	2011-08-31	2011-08-31	ENSG00000225511	ENSG00000225511		"""Long non-coding RNAs"""	23569	non-coding RNA	RNA, long non-coding			"""chromosome 9 open reading frame 44"""	C9orf44			Standard	NR_027341		Approved		uc004arp.1		OTTHUMG00000020216		9.37:g.94903918C>G								NR_027341.1						0	170	+									RNA	SNP	ENST00000416438.2	37																																																																																						0.662	LINC00475-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000053051.2			5	5	0	0	0	1	0	5	5				
NCAPH2	29781	broad.mit.edu	37	22	50960821	50960821	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr22:50960821C>G	ENST00000420993.2	+	15	1405	c.1283C>G	c.(1282-1284)tCc>tGc	p.S428C	NCAPH2_ENST00000299821.11_Missense_Mutation_p.S428C|NCAPH2_ENST00000395701.3_Missense_Mutation_p.S428C|NCAPH2_ENST00000520297.1_3'UTR|CTA-384D8.36_ENST00000608319.1_RNA	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	428					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CTGGAGGATTCCCTGGAAGAC	0.657																																						ENST00000395701.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24						c.(1282-1284)tCc>tGc		non-SMC condensin II complex, subunit H2							39.0	44.0	42.0					22																	50960821		2203	4300	6503	SO:0001583	missense	29781				chromosome condensation	chromosome|nucleus		g.chr22:50960821C>G	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.1283C>G	22.37:g.50960821C>G	ENSP00000410088:p.Ser428Cys					NCAPH2_ENST00000299821.11_Missense_Mutation_p.S428C|NCAPH2_ENST00000520297.1_3'UTR|NCAPH2_ENST00000420993.2_Missense_Mutation_p.S428C	p.S428C			Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	15	1377	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	428					B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	ENST00000420993.2	37	c.1283C>G	CCDS14094.2	.	.	.	.	.	.	.	.	.	.	C	7.645	0.681632	0.14907	.	.	ENSG00000025770	ENST00000420993;ENST00000395701;ENST00000299821	.	.	.	5.1	5.1	0.69264	.	0.514767	0.19147	N	0.121552	T	0.63355	0.2504	M	0.67953	2.075	0.09310	N	1	D;D;D	0.63046	0.99;0.979;0.992	P;P;P	0.61533	0.824;0.789;0.89	T	0.57412	-0.7816	9	0.51188	T	0.08	-23.7274	14.0133	0.64509	0.0:1.0:0.0:0.0	.	428;406;428	Q6IBW4-4;Q6IBW4-2;Q6IBW4	.;.;CNDH2_HUMAN	C	428	.	ENSP00000299821:S428C	S	+	2	0	NCAPH2	49307687	0.015000	0.18098	0.075000	0.20258	0.034000	0.12701	3.438000	0.52871	2.381000	0.81170	0.591000	0.81541	TCC		0.657	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299		15	51	0	0	0	1	0	15	51				
MMRN2	79812	broad.mit.edu	37	10	88696861	88696861	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:88696861G>A	ENST00000372027.5	-	7	2810	c.2489C>T	c.(2488-2490)gCc>gTc	p.A830V		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	830	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGAAAAGCTGGCATAGAAGGC	0.498																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(2488-2490)gCc>gTc		multimerin 2							87.0	70.0	76.0					10																	88696861		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88696861G>A	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.2489C>T	10.37:g.88696861G>A	ENSP00000361097:p.Ala830Val						p.A830V	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			7	2562	-			830			C1q.		Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.2489C>T	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643552	0.67244	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	D	0.85955	-2.05	4.9	4.9	0.64082	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.267572	0.31404	N	0.007701	D	0.88001	0.6320	M	0.66939	2.045	0.39845	D	0.973168	D;P	0.52996	0.957;0.95	P;P	0.58266	0.818;0.836	D	0.87963	0.2731	10	0.48119	T	0.1	-30.2795	7.553	0.27808	0.1481:0.0:0.8519:0.0	.	608;830	E7EN39;Q9H8L6	.;MMRN2_HUMAN	V	830;608	ENSP00000361097:A830V	ENSP00000361097:A830V	A	-	2	0	MMRN2	88686841	0.965000	0.33210	0.955000	0.39395	0.876000	0.50452	4.392000	0.59659	2.291000	0.77112	0.558000	0.71614	GCC		0.498	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		18	34	0	0	0	1	0	18	34				
DSCAML1	57453	broad.mit.edu	37	11	117374650	117374650	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:117374650C>T	ENST00000321322.6	-	11	2450	c.2449G>A	c.(2449-2451)Gtc>Atc	p.V817I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V547I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	757	Ig-like C2-type 9.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTCTAGGACGTGGCGGATC	0.617																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(2449-2451)Gtc>Atc		Down syndrome cell adhesion molecule like 1							110.0	89.0	96.0					11																	117374650		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117374650C>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2449G>A	11.37:g.117374650C>T	ENSP00000315465:p.Val817Ile					DSCAML1_ENST00000527706.1_Missense_Mutation_p.V547I	p.V817I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	11	2450	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	757			Ig-like C2-type 9.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.2449G>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745660	0.69418	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.69306	-0.39;-0.39	4.29	4.29	0.51040	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71846	0.3388	L	0.35723	1.085	0.80722	D	1	D	0.67145	0.996	D	0.64042	0.921	T	0.69363	-0.5165	9	0.27785	T	0.31	.	16.9369	0.86205	0.0:1.0:0.0:0.0	.	757	Q8TD84	DSCL1_HUMAN	I	547;817;524	ENSP00000434335:V547I;ENSP00000315465:V817I	ENSP00000315465:V817I	V	-	1	0	DSCAML1	116879860	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.877000	0.69675	2.237000	0.73441	0.462000	0.41574	GTC		0.617	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		30	38	0	0	0	1	0	30	38				
DNAJB8	165721	broad.mit.edu	37	3	128181452	128181452	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr3:128181452C>A	ENST00000469083.1	-	2	3194	c.637G>T	c.(637-639)Ggg>Tgg	p.G213W	DNAJB8_ENST00000319153.3_Missense_Mutation_p.G213W|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	213					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TTGAGCTGCCCGTCTTCCTCC	0.617																																						ENST00000469083.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(637-639)Ggg>Tgg		DnaJ (Hsp40) homolog, subfamily B, member 8							174.0	138.0	150.0					3																	128181452		2203	4300	6503	SO:0001583	missense	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181452C>A		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.637G>T	3.37:g.128181452C>A	ENSP00000417418:p.Gly213Trp					DNAJB8_ENST00000319153.3_Missense_Mutation_p.G213W	p.G213W			Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	3194	-			213					B3KWV7	Missense_Mutation	SNP	ENST00000469083.1	37	c.637G>T	CCDS3048.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737717	0.69304	.	.	ENSG00000179407	ENST00000469083;ENST00000319153	T;T	0.45668	0.89;0.89	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79855	-0.1627	10	0.87932	D	0	.	17.3833	0.87410	0.0:1.0:0.0:0.0	.	213	Q8NHS0	DNJB8_HUMAN	W	213	ENSP00000417418:G213W;ENSP00000316053:G213W	ENSP00000316053:G213W	G	-	1	0	DNAJB8	129664142	1.000000	0.71417	0.988000	0.46212	0.420000	0.31355	7.138000	0.77305	2.098000	0.63641	0.561000	0.74099	GGG		0.617	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		30	79	1	0	9.78306e-22	1	1.09656e-21	30	79				
SCARA3	51435	broad.mit.edu	37	8	27516175	27516175	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr8:27516175C>G	ENST00000301904.3	+	5	508	c.488C>G	c.(487-489)aCc>aGc	p.T163S	SCARA3_ENST00000337221.4_Missense_Mutation_p.T163S	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	163					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CTCTCCACCACCAGCAGACAA	0.597																																						ENST00000301904.3																			0				breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9						c.(487-489)aCc>aGc		scavenger receptor class A, member 3							73.0	75.0	74.0					8																	27516175		2203	4300	6503	SO:0001583	missense	51435				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	g.chr8:27516175C>G	AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"""macrophage scavenger receptor-like 1"""	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.488C>G	8.37:g.27516175C>G	ENSP00000301904:p.Thr163Ser					SCARA3_ENST00000337221.4_Missense_Mutation_p.T163S	p.T163S	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)	5	508	+		Ovarian(32;2.61e-05)	163					Q9UM15|Q9UM16	Missense_Mutation	SNP	ENST00000301904.3	37	c.488C>G	CCDS34871.1	.	.	.	.	.	.	.	.	.	.	C	3.973	-0.008030	0.07773	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;T	0.77229	-1.08;1.98	6.04	5.16	0.70880	.	0.203832	0.52532	D	0.000075	T	0.58481	0.2125	N	0.08118	0	0.32388	N	0.553592	B;B	0.14805	0.011;0.006	B;B	0.13407	0.009;0.004	T	0.56613	-0.7950	10	0.10111	T	0.7	-19.4381	15.3831	0.74676	0.0:0.8606:0.1394:0.0	.	163;163	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	S	163	ENSP00000337985:T163S;ENSP00000301904:T163S	ENSP00000301904:T163S	T	+	2	0	SCARA3	27572094	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	4.465000	0.60141	1.542000	0.49330	0.561000	0.74099	ACC		0.597	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376258.2	NM_016240		25	68	0	0	0	1	0	25	68				
LMO7	4008	broad.mit.edu	37	13	76427494	76427494	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr13:76427494C>A	ENST00000321797.8	+	26	4653	c.3932C>A	c.(3931-3933)gCt>gAt	p.A1311D	LMO7_ENST00000357063.3_Missense_Mutation_p.A1596D|LMO7_ENST00000377534.3_Missense_Mutation_p.A1596D|LMO7_ENST00000341547.4_Missense_Mutation_p.A1262D|LMO7_ENST00000465261.2_Missense_Mutation_p.A1311D|LMO7_ENST00000526202.1_Missense_Mutation_p.A1188D			Q8WWI1	LMO7_HUMAN	LIM domain 7	1596					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCCCCTTCAGCTTCACAGTCA	0.542																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(4786-4788)gCt>gAt		LIM domain 7							49.0	42.0	45.0					13																	76427494		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76427494C>A	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3932C>A	13.37:g.76427494C>A	ENSP00000317802:p.Ala1311Asp					LMO7_ENST00000321797.8_Missense_Mutation_p.A1311D|LMO7_ENST00000526202.1_Missense_Mutation_p.A1188D|LMO7_ENST00000341547.4_Missense_Mutation_p.A1262D|LMO7_ENST00000465261.2_Missense_Mutation_p.A1311D|LMO7_ENST00000377534.3_Missense_Mutation_p.A1596D	p.A1596D			Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	29	6047	+		Breast(118;0.0992)	1596					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.4787C>A		.	.	.	.	.	.	.	.	.	.	C	13.92	2.380052	0.42207	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.54	-0.478	0.12093	.	1.884520	0.01985	N	0.045124	T	0.41282	0.1152	L	0.56769	1.78	0.09310	N	1	B;B;B	0.34015	0.089;0.435;0.201	B;B;B	0.35413	0.07;0.202;0.1	T	0.20773	-1.0265	10	0.46703	T	0.11	10.9404	5.7426	0.18102	0.0:0.3556:0.233:0.4115	.	1188;1262;1311	E9PMS6;Q8WWI1-3;E9PLH4	.;.;.	D	1262;1596;1596;1311;1188;1311	ENSP00000342112:A1262D;ENSP00000349571:A1596D;ENSP00000366757:A1596D;ENSP00000317802:A1311D;ENSP00000431129:A1188D;ENSP00000433352:A1311D	ENSP00000317802:A1311D	A	+	2	0	LMO7	75325495	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.466000	0.22019	-0.491000	0.06697	-0.266000	0.10368	GCT		0.542	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		20	16	1	0	2.89027e-11	1	3.13625e-11	20	16				
SOX9	6662	broad.mit.edu	37	17	70118926	70118926	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:70118926G>C	ENST00000245479.2	+	2	870	c.498G>C	c.(496-498)aaG>aaC	p.K166N		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	166					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K166delK(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			TGCAGCACAAGAAGGACCACC	0.662																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			1	Deletion - In frame(1)	p.K166delK(1)	kidney(1)	breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(496-498)aaG>aaC		SRY (sex determining region Y)-box 9							50.0	52.0	51.0					17																	70118926		2203	4300	6503	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70118926G>C	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.498G>C	17.37:g.70118926G>C	ENSP00000245479:p.Lys166Asn						p.K166N	NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		2	870	+		Colorectal(1115;0.245)	166					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.498G>C	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.815429	0.90790	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.98105	-4.72	4.7	4.7	0.59300	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.048654	0.85682	D	0.000000	D	0.95017	0.8387	L	0.31804	0.96	0.80722	D	1	P	0.47484	0.896	B	0.43838	0.433	D	0.95259	0.8367	10	0.87932	D	0	.	12.1585	0.54091	0.0833:0.0:0.9167:0.0	.	166	P48436	SOX9_HUMAN	N	166	ENSP00000245479:K166N	ENSP00000245479:K166N	K	+	3	2	SOX9	67630521	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	3.856000	0.55964	2.161000	0.67846	0.561000	0.74099	AAG		0.662	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		25	61	0	0	0	1	0	25	61				
TRIM2	23321	broad.mit.edu	37	4	154216657	154216657	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr4:154216657G>C	ENST00000437508.2	+	6	1099	c.898G>C	c.(898-900)Gat>Cat	p.D300H	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000338700.5_Missense_Mutation_p.D327H	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	300					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CGACCAGCTGGATTTCATCGT	0.597																																						ENST00000338700.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19						c.(979-981)Gat>Cat		tripartite motif containing 2							76.0	66.0	69.0					4																	154216657		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154216657G>C	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.898G>C	4.37:g.154216657G>C	ENSP00000415812:p.Asp300His					TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.D300H	p.D327H	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	6	1044	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	300					D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.979G>C	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852739	0.91355	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	T;T	0.70986	-0.52;-0.53	5.53	5.53	0.82687	.	0.080350	0.85682	D	0.000000	T	0.77308	0.4111	L	0.59436	1.845	0.80722	D	1	P;P	0.52316	0.952;0.952	P;P	0.51453	0.67;0.67	T	0.77250	-0.2657	10	0.49607	T	0.09	-1.7979	19.8189	0.96583	0.0:0.0:1.0:0.0	.	327;300	D3DP09;Q9C040	.;TRIM2_HUMAN	H	300;327	ENSP00000415812:D300H;ENSP00000339659:D327H	ENSP00000339659:D327H	D	+	1	0	TRIM2	154436107	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.375000	0.97178	2.756000	0.94617	0.561000	0.74099	GAT		0.597	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			13	32	0	0	0	1	0	13	32				
NUP214	8021	broad.mit.edu	37	9	134010363	134010363	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr9:134010363C>A	ENST00000359428.5	+	8	1054	c.910C>A	c.(910-912)Cat>Aat	p.H304N	RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.H304N|NUP214_ENST00000411637.2_Missense_Mutation_p.H304N|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	304	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GAGACAGCATCATTACTACCT	0.453			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(910-912)Cat>Aat		nucleoporin 214kDa							78.0	71.0	73.0					9																	134010363		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134010363C>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.910C>A	9.37:g.134010363C>A	ENSP00000352400:p.His304Asn					RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.H304N|RP11-544A12.4_ENST00000587264.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.H304N|RP11-544A12.4_ENST00000587408.1_RNA	p.H304N			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	8	1054	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	304					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.910C>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667620	0.88348	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	D;D;D	0.95412	-3.7;-3.7;-3.7	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);	0.156624	0.29987	N	0.010691	D	0.96842	0.8969	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.54207	0.965;0.965	P;P	0.58210	0.835;0.835	D	0.96017	0.9006	10	0.41790	T	0.15	-22.9671	19.1263	0.93386	0.0:1.0:0.0:0.0	.	304;304	P35658-4;P35658	.;NU214_HUMAN	N	304	ENSP00000352400:H304N;ENSP00000396576:H304N;ENSP00000405014:H304N	ENSP00000352400:H304N	H	+	1	0	NUP214	133000184	1.000000	0.71417	0.935000	0.37517	0.659000	0.38960	6.996000	0.76263	2.763000	0.94921	0.650000	0.86243	CAT		0.453	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		19	75	1	0	8.28177e-16	1	9.18196e-16	19	75				
IGLV2-28	28812	broad.mit.edu	37	22	23006950	23006950	+	RNA	SNP	G	G	A			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr22:23006950G>A	ENST00000385099.1	+	0	53																											ACCATGGCCTGGGCTCTGCTC	0.637																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006950G>A																													22.37:g.23006950G>A														0	53	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.637	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	2	0	0	0	1	0	3	2				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	71	0	0	0	1	0	4	71				
RP11-423O2.5	0	broad.mit.edu	37	1	142803276	142803278	+	lincRNA	DEL	AAC	AAC	-	rs140309984|rs145869340		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr1:142803276_142803278delAAC	ENST00000423385.1	-	0	1687_1689																											ACCAAACCAAaacaacaacaaca	0.345																																						ENST00000423385.1																			0																																																			0							g.chr1:142803276_142803278delAAC																													1.37:g.142803285_142803287delAAC														0	1687_1689	-									RNA	DEL	ENST00000423385.1	37																																																																																						0.345	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	5						3	5	---	---	---	---
POU3F2	5454	broad.mit.edu	37	6	99283427	99283427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr6:99283427delC	ENST00000328345.5	+	1	848	c.678delC	c.(676-678)gacfs	p.D226fs		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	226					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		ACCATGCCGACCACCACCCGC	0.771																																						ENST00000328345.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(676-678)gafs		POU class 3 homeobox 2							6.0	7.0	6.0					6																	99283427		1819	3599	5418	SO:0001589	frameshift_variant	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99283427delC	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.678delC	6.37:g.99283427delC	ENSP00000329170:p.Asp226fs						p.D226fs	NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	848	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	226					Q14960|Q86V54|Q9UJL0	Frame_Shift_Del	DEL	ENST00000328345.5	37	c.678delC	CCDS5040.1																																																																																				0.771	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			2	4						2	4	---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCATGGGACATTTTTTTTCGC	0.577																																						ENST00000222673.5																			1	Deletion - Frameshift(1)	p.R81fs*19(1)	breast(1)	breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(232-234)atfs		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)						127.0	121.0	123.0					7																	44684936		2203	4300	6503	SO:0001589	frameshift_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44684936delT	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.233delT	7.37:g.44684936delT	ENSP00000222673:p.Ile78fs					OGDH_ENST00000439616.2_Intron|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs	p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			3	275	+			78					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Del	DEL	ENST00000222673.5	37	c.233delT	CCDS34627.1																																																																																				0.577	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			7	230						7	230	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300804	74300804	+	RNA	DEL	A	A	-			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458																																						ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														442582					nucleus	binding	g.chr7:74300804delA			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300804delA										P0CL84	ST3L2_HUMAN			0	499	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.458	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		2	4						2	4	---	---	---	---
AC006988.1	0	broad.mit.edu	37	7	88269890	88269891	+	RNA	INS	-	-	T	rs200675201|rs113056340		TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr7:88269890_88269891insT	ENST00000390184.1	+	0	56_57																											AGAAGGAGCACTTTTTTTTTTT	0.317																																						ENST00000390184.1																			0																																																			0							g.chr7:88269890_88269891insT																													7.37:g.88269901_88269901dupT														0	56_57	+									RNA	INS	ENST00000390184.1	37																																																																																						0.317	AC006988.1-201	NOVEL	basic	miRNA	miRNA				5	5						5	5	---	---	---	---
ZNF503-AS1	253264	broad.mit.edu	37	10	77054516	77054517	+	lincRNA	INS	-	-	AGAA	rs59167361|rs10684333|rs34927423	byFrequency	TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:77054516_77054517insAGAA	ENST00000416398.1	+	0	0				RP11-399K21.11_ENST00000418818.2_lincRNA	NR_038223.1				ZNF503 antisense RNA 1																		ggagcccggagagaaagaaggg	0.718														1254	0.250399	0.6082	0.1686	5008	,	,		8909	0.0407		0.2217	False		,,,				2504	0.0706					ENST00000418818.2																			0																																																			253264							g.chr10:77054516_77054517insAGAA			10q22.2	2012-10-12	2012-08-15		ENSG00000226051	ENSG00000226051		"""Long non-coding RNAs"""	27370	non-coding RNA	RNA, long non-coding			"""ZNF503 antisense RNA 1 (non-protein coding)"""				Standard	NR_038223		Approved		uc001jxd.2		OTTHUMG00000018524		10.37:g.77054521_77054524dupAGAA														0	142	-									RNA	INS	ENST00000416398.1	37																																																																																						0.718	ZNF503-AS1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000048824.2			4	4						4	4	---	---	---	---
HELLS	3070	broad.mit.edu	37	10	96322571	96322571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:96322571delA	ENST00000348459.5	+	6	478	c.373delA	c.(373-375)atgfs	p.M125fs	HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000394036.1_Intron|HELLS_ENST00000371332.4_Frame_Shift_Del_p.M125fs|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394044.1_Frame_Shift_Del_p.M125fs|HELLS_ENST00000394045.1_Frame_Shift_Del_p.M125fs	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		ttttataGTTATGAGGAAAAA	0.284																																						ENST00000348459.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(373-375)tgfs		helicase, lymphoid-specific							28.0	32.0	31.0					10																	96322571		2185	4268	6453	SO:0001589	frameshift_variant	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96322571delA	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.373delA	10.37:g.96322571delA	ENSP00000239027:p.Met125fs					HELLS_ENST00000371332.4_Frame_Shift_Del_p.M125fs|HELLS_ENST00000394045.1_Frame_Shift_Del_p.M125fs|HELLS_ENST00000394036.1_Intron|HELLS_ENST00000394044.1_Frame_Shift_Del_p.M125fs|HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000239026.6_3'UTR	p.M125fs	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	6	478	+		Colorectal(252;0.0429)	125						Frame_Shift_Del	DEL	ENST00000348459.5	37	c.373delA	CCDS7434.1																																																																																				0.284	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		25	58						25	58	---	---	---	---
CWF19L1	55280	broad.mit.edu	37	10	101997803	101997804	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr10:101997803_101997804insT	ENST00000354105.4	-	11	1315_1316	c.1229_1230insA	c.(1228-1230)tatfs	p.Y410fs	CWF19L1_ENST00000478047.1_5'UTR|SNORA12_ENST00000391162.1_RNA|CWF19L1_ENST00000370379.1_Frame_Shift_Ins_p.Y165fs	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	410							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GATGGCTCTTATAATTTCTCTC	0.431																																						ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(1228-1230)taafs		CWF19-like 1, cell cycle control (S. pombe)																																				SO:0001589	frameshift_variant	55280						catalytic activity	g.chr10:101997803_101997804insT	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1230dupA	10.37:g.101997804_101997804dupT	ENSP00000326411:p.Tyr410fs					CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Frame_Shift_Ins_p.*165fs	p.*410fs	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	11	1315_1316	-		Colorectal(252;0.117)	410					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Frame_Shift_Ins	INS	ENST00000354105.4	37	c.1229_1230insA	CCDS7489.1																																																																																				0.431	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		47	111						47	111	---	---	---	---
MMP1	4312	broad.mit.edu	37	11	102668791	102668793	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr11:102668791_102668793delCAG	ENST00000315274.6	-	1	98_100	c.31_33delCTG	c.(31-33)ctgdel	p.L11del	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	11					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	CACCCCAGAACAGCAGCAGCAGC	0.498																																						ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(31-33)del		matrix metallopeptidase 1 (interstitial collagenase)																																				SO:0001651	inframe_deletion	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102668791_102668793delCAG	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.31_33delCTG	11.37:g.102668800_102668802delCAG	ENSP00000322788:p.Leu11del					WTAPP1_ENST00000525739.2_RNA	p.L11del	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	1	98_100	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	11					P08156	In_Frame_Del	DEL	ENST00000315274.6	37	c.31_33delCTG	CCDS8322.1																																																																																				0.498	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		7	294						7	294	---	---	---	---
HERC2P4	100289574	broad.mit.edu	37	16	32182027	32182028	+	RNA	INS	-	-	T	rs547436411|rs201605848	byFrequency	TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr16:32182027_32182028insT	ENST00000564730.1	-	0	388_389									hect domain and RLD 2 pseudogene 4																		AGACCTCCTTGTAAGAACGGCC	0.391													?|T|TT|unsure	165	0.0329473	0.0537	0.0288	5008	,	,		25491	0.0595		0.008	False		,,,				2504	0.0061					ENST00000564730.1																			0																																																			100289574							g.chr16:32182027_32182028insT			16p11.2	2014-03-18			ENSG00000230267	ENSG00000230267			4872	pseudogene	pseudogene							Standard	NR_109773		Approved	D16F37S5	uc002ecx.4		OTTHUMG00000176563		16.37:g.32182028_32182028dupT														0	388_389	-									RNA	INS	ENST00000564730.1	37																																																																																						0.391	HERC2P4-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432538.1	NR_002827		2	4						2	4	---	---	---	---
UPF3AP2	147150	broad.mit.edu	37	17	20279655	20279655	+	RNA	DEL	T	T	-	rs200407551|rs530996042	byFrequency	TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr17:20279655delT	ENST00000578315.1	-	0	51									UPF3A pseudogene 2																		tctgtctctcttttttttttt	0.383														1002	0.20008	0.264	0.1715	5008	,	,		16984	0.1964		0.175	False		,,,				2504	0.1636					ENST00000578315.1																			0																																																			147150							g.chr17:20279655delT			17p11.2	2013-09-13	2013-09-13			ENSG00000214832			30567	pseudogene	pseudogene			"""UPF3 regulator of nonsense transcripts homolog A (yeast) pseudogene 2"""			11997339	Standard	NG_001546		Approved						17.37:g.20279655delT														0	51	-									RNA	DEL	ENST00000578315.1	37																																																																																						0.383	UPF3AP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000443627.1	NG_001546		6	7						6	7	---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50155567	50155569	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:50155567_50155569delAAG	ENST00000360565.3	+	7	2045_2047	c.1921_1923delAAG	c.(1921-1923)aagdel	p.K645del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	645	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGCGGCAGCAAGAAGAAGAAGA	0.744																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(1921-1923)del		SR-related CTD-associated factor 1				45,2899		7,31,1434						4.0	1.0			2	109,6037		13,83,2977	no	coding	SCAF1	NM_021228.2		20,114,4411	A1A1,A1R,RR		1.7735,1.5285,1.6942				154,8936				SO:0001651	inframe_deletion	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50155567_50155569delAAG	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.1921_1923delAAG	19.37:g.50155576_50155578delAAG	ENSP00000353769:p.Lys645del						p.K645del	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2045_2047	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	645			Arg-rich.|Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	In_Frame_Del	DEL	ENST00000360565.3	37	c.1921_1923delAAG	CCDS33074.1																																																																																				0.744	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		2	4						2	4	---	---	---	---
VN1R4	317703	broad.mit.edu	37	19	53770579	53770580	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A7JS-01A-11D-A34J-08	TCGA-UF-A7JS-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6358b47-cc06-4332-b171-834eb449a94a	13d69351-f2bf-4c0c-b7aa-f4d05c68b7c8	g.chr19:53770579_53770580insT	ENST00000311170.4	-	1	392_393	c.339_340insA	c.(337-342)aaatccfs	p.S114fs	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	114					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GCCCACCTGGATTTCCTGGAGC	0.495										HNSCC(26;0.072)																												ENST00000311170.4																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22						c.(337-342)aaccagfs		vomeronasal 1 receptor 4																																				SO:0001589	frameshift_variant	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770579_53770580insT	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.340dupA	19.37:g.53770582_53770582dupT	ENSP00000310856:p.Ser114fs	HNSCC(26;0.072)					p.NQ113fs	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	392_393	-			113					Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Frame_Shift_Ins	INS	ENST00000311170.4	37	c.339_340insA	CCDS33099.1																																																																																				0.495	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		9	44						9	44	---	---	---	---
