#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
DPH5	51611	broad.mit.edu	37	1	101458271	101458271	+	Missense_Mutation	SNP	G	G	A	rs116634893	byFrequency	TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:101458271G>A	ENST00000370109.3	-	7	668	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	RP11-421L21.2_ENST00000414686.1_RNA|DPH5_ENST00000342173.7_Missense_Mutation_p.R186W|DPH5_ENST00000427040.2_Intron|DPH5_ENST00000488176.1_Missense_Mutation_p.R186W|DPH5_ENST00000370105.3_5'UTR	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	186					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CTCATATACCGTGGAGGTTCA	0.418													G|||	20	0.00399361	0.0144	0.0014	5008	,	,		19229	0.0		0.0	False		,,,				2504	0.0					ENST00000370109.3																			0				endometrium(2)|large_intestine(1)|lung(4)	7						c.(556-558)Cgg>Tgg		diphthamide biosynthesis 5		G	TRP/ARG,TRP/ARG,TRP/ARG	43,3693		0,43,1825	146.0	141.0	143.0		556,556,556	4.2	0.6	1	dbSNP_132	143	0,8214		0,0,4107	yes	missense,missense,missense	DPH5	NM_001077394.1,NM_001077395.1,NM_015958.2	101,101,101	0,43,5932	AA,AG,GG		0.0,1.151,0.3598	probably-damaging,probably-damaging,probably-damaging	186/286,186/285,186/286	101458271	43,11907	1868	4107	5975	SO:0001583	missense	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101458271G>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.556C>T	1.37:g.101458271G>A	ENSP00000359127:p.Arg186Trp					DPH5_ENST00000427040.2_Intron|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Missense_Mutation_p.R186W|DPH5_ENST00000342173.7_Missense_Mutation_p.R186W	p.R186W	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	7	668	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	186					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Missense_Mutation	SNP	ENST00000370109.3	37	c.556C>T	CCDS41358.1	5	0.0022893772893772895	4	0.008130081300813009	1	0.0027624309392265192	0	0.0	0	0.0	G	17.97	3.517458	0.64634	0.01151	0.0	ENSG00000117543	ENST00000370109;ENST00000434818;ENST00000422396;ENST00000342173;ENST00000488176	.	.	.	6.06	4.16	0.48862	Tetrapyrrole methylase, subdomain 2 (1);Tetrapyrrole methylase (2);	0.097401	0.64402	D	0.000001	T	0.81612	0.4859	H	0.94698	3.57	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.98;0.988	D	0.85581	0.1240	9	0.87932	D	0	-1.3497	11.1189	0.48277	0.0667:0.0:0.8045:0.1288	.	186;186	Q9H2P9;A8JZY6	DPH5_HUMAN;.	W	186;185;135;186;186	.	ENSP00000339630:R186W	R	-	1	2	DPH5	101230859	1.000000	0.71417	0.584000	0.28653	0.444000	0.32077	5.484000	0.66844	0.855000	0.35359	0.655000	0.94253	CGG		0.418	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		23	48	0	0	0	1	0	23	48				
RBL2	5934	broad.mit.edu	37	16	53504686	53504686	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr16:53504686G>A	ENST00000262133.6	+	17	2692	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	852	Domain B.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)	p.R852L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCGCCTTCGGGATCTCTGT	0.383																																						ENST00000262133.6																			1	Substitution - Missense(1)	p.R852L(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2554-2556)cGg>cAg		retinoblastoma-like 2 (p130)							127.0	136.0	133.0					16																	53504686		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53504686G>A	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.2555G>A	16.37:g.53504686G>A	ENSP00000262133:p.Arg852Gln					RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	p.R852Q	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			17	2692	+			852			Domain B.|Pocket; binds E1A.		B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.2555G>A	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219707	0.39201	.	.	ENSG00000103479	ENST00000262133;ENST00000379935	D	0.91351	-2.83	5.98	5.98	0.97165	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.052233	0.64402	D	0.000001	D	0.89483	0.6728	N	0.25647	0.755	0.80722	D	1	D;D	0.71674	0.975;0.998	P;P	0.57548	0.607;0.823	D	0.87100	0.2178	10	0.27785	T	0.31	-14.6339	13.3011	0.60326	0.0725:0.0:0.9275:0.0	.	562;852	E9PG04;Q08999	.;RBL2_HUMAN	Q	852;562	ENSP00000262133:R852Q	ENSP00000262133:R852Q	R	+	2	0	RBL2	52062187	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	7.787000	0.85759	2.835000	0.97688	0.650000	0.86243	CGG		0.383	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		28	119	0	0	0	1	0	28	119				
ROS1	6098	broad.mit.edu	37	6	117704543	117704543	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:117704543G>T	ENST00000368508.3	-	16	2631	c.2433C>A	c.(2431-2433)agC>agA	p.S811R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S806R	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	811					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTAGTCTGGTGCTTTCCACTG	0.418			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(2431-2433)agC>agA		c-ros oncogene 1 , receptor tyrosine kinase							220.0	204.0	210.0					6																	117704543		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117704543G>T	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2433C>A	6.37:g.117704543G>T	ENSP00000357494:p.Ser811Arg					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S806R	p.S811R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	16	2631	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	811					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.2433C>A	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177509	0.57692	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.89123	-2.47;-2.47	4.76	2.98	0.34508	.	0.000000	0.64402	D	0.000001	T	0.82181	0.4981	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.69307	0.963	T	0.83080	-0.0138	10	0.51188	T	0.08	.	8.4185	0.32685	0.257:0.0:0.743:0.0	.	811	P08922	ROS1_HUMAN	R	811;806	ENSP00000357494:S811R;ENSP00000357493:S806R	ENSP00000357493:S806R	S	-	3	2	ROS1	117811236	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.288000	0.18939	0.555000	0.29079	0.655000	0.94253	AGC		0.418	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			4	135	1	0	0.00024832	1	0.00024832	4	135				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	130	0	0	0	1	0	4	130				
TTC30B	150737	broad.mit.edu	37	2	178416956	178416956	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr2:178416956G>A	ENST00000408939.3	-	1	786	c.536C>T	c.(535-537)gCc>gTc	p.A179V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	179				Missing (in Ref. 1; BAB70953). {ECO:0000305}.	cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTGCAGGGCGGCAAAAAACTT	0.542																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(535-537)gCc>gTc		tetratricopeptide repeat domain 30B							115.0	127.0	123.0					2																	178416956		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416956G>A	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.536C>T	2.37:g.178416956G>A	ENSP00000386181:p.Ala179Val						p.A179V	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	786	-			179	Missing (in Ref. 1; BAB70953).				Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.536C>T	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	G	7.756	0.704449	0.15172	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.60299	0.2	4.51	4.51	0.55191	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.247267	0.40818	N	0.001008	T	0.51312	0.1667	L	0.42245	1.32	0.20638	N	0.999874	B	0.14805	0.011	B	0.25759	0.063	T	0.45056	-0.9287	10	0.38643	T	0.18	.	14.578	0.68265	0.0:0.1577:0.8423:0.0	.	179	Q8N4P2	TT30B_HUMAN	V	132;179	ENSP00000386181:A179V	ENSP00000386181:A179V	A	-	2	0	TTC30B	178125202	0.007000	0.16637	0.731000	0.30826	0.099000	0.18886	1.796000	0.38794	2.487000	0.83934	0.655000	0.94253	GCC		0.542	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		6	147	0	0	0	1	0	6	147				
INTU	27152	broad.mit.edu	37	4	128629783	128629783	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr4:128629783G>A	ENST00000335251.6	+	13	2432	c.2329G>A	c.(2329-2331)Gac>Aac	p.D777N		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	777					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTTGAAAAAGGACCTTCCAGA	0.303																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(2329-2331)Gac>Aac		inturned planar cell polarity protein							31.0	31.0	31.0					4																	128629783		2193	4281	6474	SO:0001583	missense	27152							g.chr4:128629783G>A	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2329G>A	4.37:g.128629783G>A	ENSP00000334003:p.Asp777Asn						p.D777N	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			13	2432	+			777					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.2329G>A	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	4.796	0.148007	0.09134	.	.	ENSG00000164066	ENST00000335251	.	.	.	4.76	3.92	0.45320	.	0.725044	0.13706	N	0.368473	T	0.25791	0.0628	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08310	-1.0728	9	0.08179	T	0.78	-1.1511	5.4648	0.16637	0.3415:0.0:0.6585:0.0	.	777	Q9ULD6	PDZD6_HUMAN	N	777	.	ENSP00000334003:D777N	D	+	1	0	INTU	128849233	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.503000	0.45407	1.235000	0.43724	0.655000	0.94253	GAC		0.303	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		12	24	0	0	0	1	0	12	24				
EIF4G3	8672	broad.mit.edu	37	1	21177847	21177847	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:21177847G>A	ENST00000264211.8	-	22	3702	c.3508C>T	c.(3508-3510)Cgg>Tgg	p.R1170W	EIF4G3_ENST00000602326.1_Missense_Mutation_p.R1176W|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R890W|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1176W|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R774W|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1170W|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R660W	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1170					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATCTCTCTCCGCTGCTCTTCT	0.522																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(3526-3528)Cgg>Tgg		eukaryotic translation initiation factor 4 gamma, 3							144.0	133.0	137.0					1																	21177847		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21177847G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3508C>T	1.37:g.21177847G>A	ENSP00000264211:p.Arg1170Trp					EIF4G3_ENST00000374935.3_Missense_Mutation_p.R890W|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1176W|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1170W|EIF4G3_ENST00000264211.8_Missense_Mutation_p.R1170W|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R660W|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R774W	p.R1176W	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	26	4109	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1170					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.3526C>T	CCDS214.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704695	0.88924	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.08634	3.61;3.61;3.45;3.07;3.6;3.3	5.73	4.8	0.61643	.	0.263775	0.39083	N	0.001466	T	0.17959	0.0431	N	0.22421	0.69	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.85130	0.991;0.997;0.949;0.988;0.965	T	0.03673	-1.1014	10	0.87932	D	0	-11.8661	15.9278	0.79632	0.0:0.0:0.8637:0.1363	.	1365;890;774;1176;1170	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	W	1170;1366;1170;890;660;1176;774	ENSP00000264211:R1170W;ENSP00000383274:R1170W;ENSP00000364071:R890W;ENSP00000442010:R660W;ENSP00000364073:R1176W;ENSP00000444693:R774W	ENSP00000264211:R1170W	R	-	1	2	EIF4G3	21050434	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	3.822000	0.55708	1.390000	0.46547	0.591000	0.81541	CGG		0.522	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		4	116	0	0	0	1	0	4	116				
PDE6G	5148	broad.mit.edu	37	17	79620303	79620303	+	Silent	SNP	C	C	G			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:79620303C>G	ENST00000331056.5	-	2	176	c.33G>C	c.(31-33)cgG>cgC	p.R11R	PDE6G_ENST00000571004.1_Silent_p.R11R|PDE6G_ENST00000573076.1_Silent_p.R61R|PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571224.1_Silent_p.R11R	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	11					activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Sildenafil(DB00203)|Vardenafil(DB00862)	TGGTGGCTGACCGGAACTCAG	0.637																																					GBM(189;38 2147 16440 40945 46567)	ENST00000573076.1																			0				lung(2)|urinary_tract(1)	3						c.(181-183)cgG>cgC		phosphodiesterase 6G, cGMP-specific, rod, gamma							44.0	48.0	46.0					17																	79620303		2203	4300	6503	SO:0001819	synonymous_variant	5148				platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	g.chr17:79620303C>G		CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"""Phosphodiesterases"""	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545		ENST00000331056.5:c.33G>C	17.37:g.79620303C>G						PDE6G_ENST00000571224.1_Silent_p.R11R|PDE6G_ENST00000571004.1_Silent_p.R11R|PDE6G_ENST00000331056.5_Silent_p.R11R|PDE6G_ENST00000574777.1_Intron	p.R61R			P18545	CNRG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	658	-	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		11					Q3KP63|Q7Z3U8	Silent	SNP	ENST00000331056.5	37	c.183G>C	CCDS11783.1																																																																																				0.637	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440314.1			30	66	0	0	0	1	0	30	66				
DSG2	1829	broad.mit.edu	37	18	29099814	29099814	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr18:29099814T>G	ENST00000261590.8	+	3	339	c.130T>G	c.(130-132)Tta>Gta	p.L44V	DSG2_ENST00000585206.1_Missense_Mutation_p.L44V	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	44					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ACATCCTCATTTAGTGCGGCA	0.423																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(130-132)Tta>Gta		desmoglein 2							69.0	70.0	70.0					18																	29099814		1860	4098	5958	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29099814T>G	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.130T>G	18.37:g.29099814T>G	ENSP00000261590:p.Leu44Val					DSG2_ENST00000585206.1_Missense_Mutation_p.L44V	p.L44V	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		3	339	+			44					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.130T>G	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.339375	0.24339	.	.	ENSG00000046604	ENST00000261590	T	0.63913	-0.07	4.79	-0.294	0.12831	.	0.495622	0.12215	U	0.488945	T	0.47544	0.1451	L	0.51853	1.615	0.09310	N	1	P	0.37781	0.608	B	0.32980	0.156	T	0.26052	-1.0114	10	0.22706	T	0.39	.	7.4976	0.27498	0.0:0.3645:0.0:0.6355	.	44	Q14126	DSG2_HUMAN	V	44	ENSP00000261590:L44V	ENSP00000261590:L44V	L	+	1	2	DSG2	27353812	0.000000	0.05858	0.001000	0.08648	0.255000	0.26057	-0.303000	0.08210	-0.215000	0.10063	0.459000	0.35465	TTA		0.423	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		17	40	0	0	0	1	0	17	40				
OR1L4	254973	broad.mit.edu	37	9	125486633	125486633	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr9:125486633A>G	ENST00000259466.1	+	1	365	c.365A>G	c.(364-366)gAc>gGc	p.D122G		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ATGGCCATCGACCGGCTGGTG	0.498																																						ENST00000259466.1																			0				breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						c.(364-366)gAc>gGc		olfactory receptor, family 1, subfamily L, member 4							122.0	106.0	111.0					9																	125486633		2203	4297	6500	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486633A>G		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.365A>G	9.37:g.125486633A>G	ENSP00000259466:p.Asp122Gly						p.D122G	NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN			1	365	+			122					Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.365A>G	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	20.2	3.944477	0.73672	.	.	ENSG00000136939	ENST00000259466	T	0.18174	2.23	4.01	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.50956	0.1646	H	0.94964	3.605	0.51233	D	0.999912	D	0.76494	0.999	D	0.81914	0.995	T	0.64723	-0.6340	10	0.87932	D	0	-23.0389	12.0998	0.53776	1.0:0.0:0.0:0.0	.	122	Q8NGR5	OR1L4_HUMAN	G	122	ENSP00000259466:D122G	ENSP00000259466:D122G	D	+	2	0	OR1L4	124526454	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	9.055000	0.93873	1.690000	0.51089	0.248000	0.18094	GAC		0.498	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			57	95	0	0	0	1	0	57	95				
ABCB5	340273	broad.mit.edu	37	7	20721141	20721141	+	Missense_Mutation	SNP	G	G	A	rs147800155		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr7:20721141G>A	ENST00000404938.2	+	15	2373	c.1721G>A	c.(1720-1722)cGg>cAg	p.R574Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.R129Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	574	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGCAAAGGTCGGACTACAATC	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20895	0.0		0.0	False		,,,				2504	0.0					ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(1720-1722)cGg>cAg		ATP-binding cassette, sub-family B (MDR/TAP), member 5		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	125.0	112.0	117.0		1721,386	4.7	1.0	7	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ABCB5	NM_001163941.1,NM_178559.5	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	574/1258,129/813	20721141	1,13005	2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20721141G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1721G>A	7.37:g.20721141G>A	ENSP00000384881:p.Arg574Gln					ABCB5_ENST00000258738.6_Missense_Mutation_p.R129Q	p.R574Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			15	2373	+			129			ABC transporter 2.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.1721G>A	CCDS55090.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.7	4.190878	0.78789	0.0	1.16E-4	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.84873	-1.91;-1.91	4.67	4.67	0.58626	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.50627	D	0.000120	D	0.89181	0.6642	L	0.52126	1.63	0.51233	D	0.999912	D;D	0.89917	1.0;0.999	D;P	0.63793	0.918;0.869	D	0.89760	0.3946	10	0.87932	D	0	.	15.8947	0.79325	0.0:0.0:1.0:0.0	.	574;129	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	Q	574;129	ENSP00000384881:R574Q;ENSP00000258738:R129Q	ENSP00000258738:R129Q	R	+	2	0	ABCB5	20687666	1.000000	0.71417	0.996000	0.52242	0.500000	0.33767	6.012000	0.70767	2.882000	0.98803	0.655000	0.94253	CGG		0.413	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		19	45	0	0	0	1	0	19	45				
USH2A	7399	broad.mit.edu	37	1	215848559	215848559	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:215848559G>T	ENST00000307340.3	-	63	13080	c.12694C>A	c.(12694-12696)Cca>Aca	p.P4232T	USH2A_ENST00000366943.2_Missense_Mutation_p.P4232T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4232	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> R (in USH2A). {ECO:0000269|PubMed:18273898}.		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)			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)		TGCGTCCATGGTTGCAAACCT	0.423										HNSCC(13;0.011)																												ENST00000366943.2																			0				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.(12694-12696)Cca>Aca		Usher syndrome 2A (autosomal recessive, mild)							114.0	110.0	111.0					1																	215848559		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.chr1:215848559G>T	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.12694C>A	1.37:g.215848559G>T	ENSP00000305941:p.Pro4232Thr	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.P4232T	p.P4232T			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13080	-			4232		P -> R (in USH2A).	Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12694C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757886	0.69648	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.68479	-0.33;-0.33	5.26	4.34	0.51931	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.44688	D	0.000425	D	0.83677	0.5306	M	0.90309	3.105	0.58432	D	0.999999	D	0.76494	0.999	D	0.70716	0.97	D	0.86939	0.2078	10	0.72032	D	0.01	.	13.751	0.62908	0.0742:0.0:0.9258:0.0	.	4232	O75445	USH2A_HUMAN	T	4232	ENSP00000305941:P4232T;ENSP00000355910:P4232T	ENSP00000305941:P4232T	P	-	1	0	USH2A	213915182	1.000000	0.71417	0.951000	0.38953	0.768000	0.43524	7.474000	0.81024	1.211000	0.43351	0.655000	0.94253	CCA		0.423	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	100	1	0	4.7546e-09	1	4.89445e-09	16	100				
SP2	6668	broad.mit.edu	37	17	45994066	45994066	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:45994066T>C	ENST00000376741.4	+	3	766	c.629T>C	c.(628-630)gTg>gCg	p.V210A	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	210					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GGCGGCAATGTGACGCTCACT	0.627																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(628-630)gTg>gCg		Sp2 transcription factor							85.0	76.0	79.0					17																	45994066		2203	4300	6503	SO:0001583	missense	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45994066T>C		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.629T>C	17.37:g.45994066T>C	ENSP00000365931:p.Val210Ala					AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000585280.1_RNA	p.V210A	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			3	766	+			210					A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	c.629T>C	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	T	13.88	2.370332	0.42003	.	.	ENSG00000167182	ENST00000376741;ENST00000322172	T	0.11821	2.74	5.39	5.39	0.77823	.	0.205041	0.33253	N	0.005113	T	0.17109	0.0411	L	0.58101	1.795	0.31223	N	0.697197	B	0.12013	0.005	B	0.10450	0.005	T	0.03306	-1.1050	10	0.45353	T	0.12	.	14.5302	0.67920	0.0:0.0:0.0:1.0	.	210	Q02086	SP2_HUMAN	A	210;203	ENSP00000365931:V210A	ENSP00000316942:V203A	V	+	2	0	SP2	43349065	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	3.653000	0.54446	2.267000	0.75376	0.383000	0.25322	GTG		0.627	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		25	39	0	0	0	1	0	25	39				
TMEM234	56063	broad.mit.edu	37	1	32682594	32682594	+	Intron	SNP	C	C	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:32682594C>T	ENST00000344461.3	-	5	344				TMEM234_ENST00000545122.1_Missense_Mutation_p.G154S|TMEM234_ENST00000485689.1_Intron|TMEM234_ENST00000373593.1_3'UTR|TMEM234_ENST00000309777.6_Intron			Q8WY98	TM234_HUMAN	transmembrane protein 234							integral component of membrane (GO:0016021)				kidney(2)|lung(3)	5						TCAGCCATGCCAGTAGGAGCT	0.552																																						ENST00000545122.1																			0				kidney(2)|lung(3)	5						c.(460-462)Ggc>Agc		transmembrane protein 234							37.0	34.0	35.0					1																	32682594		2203	4300	6503	SO:0001627	intron_variant	56063					integral to membrane		g.chr1:32682594C>T	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742	ENST00000344461.3:c.329-46G>A	1.37:g.32682594C>T						TMEM234_ENST00000485689.1_Intron|TMEM234_ENST00000373593.1_3'UTR|TMEM234_ENST00000309777.6_Intron|TMEM234_ENST00000344461.3_Intron	p.G154S			Q8WY98	TM234_HUMAN			5	508	-			40					B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Missense_Mutation	SNP	ENST00000344461.3	37	c.460G>A		.	.	.	.	.	.	.	.	.	.	C	17.70	3.455024	0.63290	.	.	ENSG00000160055	ENST00000545122	.	.	.	4.58	1.6	0.23607	.	.	.	.	.	T	0.39759	0.1090	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35525	-0.9785	5	0.87932	D	0	.	5.8256	0.18552	0.0:0.6499:0.0:0.3501	.	.	.	.	S	154	.	ENSP00000442664:G154S	G	-	1	0	TMEM234	32455181	0.000000	0.05858	0.030000	0.17652	0.174000	0.22865	0.006000	0.13152	0.628000	0.30357	0.563000	0.77884	GGC		0.552	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2	NM_019118		10	16	0	0	0	1	0	10	16				
PRSS3	5646	broad.mit.edu	37	9	33797829	33797829	+	Missense_Mutation	SNP	G	G	A	rs138654302		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr9:33797829G>A	ENST00000361005.5	+	3	374	c.374G>A	c.(373-375)cGc>cAc	p.R125H	PRSS3_ENST00000379405.3_Missense_Mutation_p.R68H|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.R61H|PRSS3_ENST00000342836.4_Missense_Mutation_p.R82H	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	125	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCCATCAGCCGCATCCAGGTG	0.577																																						ENST00000361005.5																			0				large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13						c.(373-375)cGc>cAc		protease, serine, 3		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	109.0	100.0	103.0		245,182,203,374	-1.0	0.9	9	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PRSS3	NM_001197097.2,NM_001197098.1,NM_002771.3,NM_007343.3	29,29,29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign,benign,benign	82/262,61/241,68/248,125/305	33797829	2,13004	2203	4300	6503	SO:0001583	missense	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33797829G>A		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.374G>A	9.37:g.33797829G>A	ENSP00000354280:p.Arg125His					RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.R82H|PRSS3_ENST00000379405.3_Missense_Mutation_p.R68H|PRSS3_ENST00000429677.3_Missense_Mutation_p.R61H	p.R125H	NM_007343.3	NP_031369.2	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		3	374	+			125			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	c.374G>A	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	G	8.689	0.906916	0.17833	2.27E-4	1.16E-4	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	3.38	-1.0	0.10196	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.193106	0.56097	N	0.000021	T	0.80210	0.4581	L	0.35644	1.08	0.39352	D	0.965773	B;B;B	0.21520	0.006;0.057;0.006	B;B;B	0.20184	0.009;0.028;0.007	T	0.66532	-0.5900	10	0.40728	T	0.16	.	8.2506	0.31715	0.4318:0.0:0.5682:0.0	.	68;125;82	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	H	125;80;82;61;68	ENSP00000354280:R125H;ENSP00000401249:R80H;ENSP00000340889:R82H;ENSP00000401828:R61H;ENSP00000368715:R68H	ENSP00000340889:R82H	R	+	2	0	PRSS3	33787829	0.962000	0.33011	0.872000	0.34217	0.074000	0.17049	2.182000	0.42556	-0.172000	0.10779	-0.671000	0.03813	CGC		0.577	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		4	85	0	0	0	1	0	4	85				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			24	61	0	0	0	1	0	24	61				
TMEM171	134285	broad.mit.edu	37	5	72419433	72419433	+	Missense_Mutation	SNP	G	G	A	rs151305324		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr5:72419433G>A	ENST00000454765.2	+	2	706	c.233G>A	c.(232-234)cGc>cAc	p.R78H	TMEM171_ENST00000287773.5_Missense_Mutation_p.R78H			Q8WVE6	TM171_HUMAN	transmembrane protein 171	78						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		ATCCTGGCCCGCTCCCGGGCG	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15666	0.0		0.0	False		,,,				2504	0.0				NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(232-234)cGc>cAc		transmembrane protein 171		G	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	54.0	53.0	53.0		233,233	5.2	1.0	5	dbSNP_134	53	0,8600		0,0,4300	yes	missense,missense	TMEM171	NM_001161342.1,NM_173490.6	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	78/324,78/325	72419433	2,13004	2203	4300	6503	SO:0001583	missense	134285					integral to membrane		g.chr5:72419433G>A	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.233G>A	5.37:g.72419433G>A	ENSP00000415030:p.Arg78His					TMEM171_ENST00000287773.5_Missense_Mutation_p.R78H	p.R78H			Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	2	706	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	78					Q8N0S1|Q8TDT7	Missense_Mutation	SNP	ENST00000454765.2	37	c.233G>A	CCDS4017.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	20.9	4.074277	0.76415	4.54E-4	0.0	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.37058	1.22;1.22	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000003	T	0.48786	0.1519	L	0.36672	1.1	0.39032	D	0.959967	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.52660	-0.8546	10	0.72032	D	0.01	-19.4353	13.0871	0.59146	0.0772:0.0:0.9228:0.0	.	78;78	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	H	78	ENSP00000415030:R78H;ENSP00000287773:R78H	ENSP00000287773:R78H	R	+	2	0	TMEM171	72455189	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	3.058000	0.49939	2.431000	0.82371	0.462000	0.41574	CGC		0.647	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		18	29	0	0	0	1	0	18	29				
ELOVL2	54898	broad.mit.edu	37	6	11005622	11005622	+	Missense_Mutation	SNP	C	C	T	rs146714276	byFrequency	TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:11005622C>T	ENST00000354666.3	-	3	321	c.238G>A	c.(238-240)Gcg>Acg	p.A80T		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	80					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AGCATGTACGCGGAGAGAAGT	0.438													C|||	2	0.000399361	0.0015	0.0	5008	,	,		20819	0.0		0.0	False		,,,				2504	0.0					ENST00000354666.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14						c.(238-240)Gcg>Acg		ELOVL fatty acid elongase 2		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	91.0	87.0	89.0		238	-2.5	0.0	6	dbSNP_134	89	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ELOVL2	NM_017770.3	58	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	benign	80/297	11005622	4,13002	2203	4300	6503	SO:0001583	missense	54898				fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr6:11005622C>T	AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.238G>A	6.37:g.11005622C>T	ENSP00000346693:p.Ala80Thr						p.A80T	NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	Epithelial(50;0.176)		3	321	-	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	80					Q6P9E1|Q86W94	Missense_Mutation	SNP	ENST00000354666.3	37	c.238G>A	CCDS4518.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.11	1.261060	0.23051	4.54E-4	2.33E-4	ENSG00000197977	ENST00000354666	T	0.24723	1.84	5.63	-2.46	0.06461	.	0.840462	0.10564	N	0.659995	T	0.04363	0.0120	L	0.33792	1.035	0.09310	N	1	B	0.24132	0.098	B	0.26202	0.067	T	0.41502	-0.9505	10	0.25106	T	0.35	-1.5827	0.4305	0.00470	0.2462:0.2147:0.2851:0.254	.	80	Q9NXB9	ELOV2_HUMAN	T	80	ENSP00000346693:A80T	ENSP00000346693:A80T	A	-	1	0	ELOVL2	11113608	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	-0.166000	0.09954	-0.215000	0.10063	-0.136000	0.14681	GCG		0.438	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039849.1			17	48	0	0	0	1	0	17	48				
RUFY3	22902	broad.mit.edu	37	4	71659525	71659525	+	IGR	SNP	G	G	A	rs376846064		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr4:71659525G>A	ENST00000226328.4	+	0	4233				RUFY3_ENST00000502653.1_Missense_Mutation_p.R401H|RUFY3_ENST00000381006.3_Missense_Mutation_p.R454H	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GAGCGAAGCCGCCAATCTGCT	0.507																																						ENST00000381006.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(1360-1362)cGc>cAc		RUN and FYVE domain containing 3		G	HIS/ARG	0,4406		0,0,2203	51.0	49.0	50.0		1361	5.0	1.0	4		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	RUFY3	NM_001037442.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	454/621	71659525	1,13005	2203	4300	6503	SO:0001628	intergenic_variant	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71659525G>A	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910		4.37:g.71659525G>A						RUFY3_ENST00000502653.1_Missense_Mutation_p.R401H	p.R454H	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		13	1940	+		all_hematologic(202;0.248)	291					B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.1361G>A	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107199	0.77096	0.0	1.16E-4	ENSG00000018189	ENST00000381006;ENST00000502653	T;T	0.10288	2.91;2.89	5.88	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	.	.	.	0.80722	D	1	D	0.64830	0.994	P	0.54499	0.754	T	0.01480	-1.1344	9	0.66056	D	0.02	0.6659	15.2103	0.73219	0.0676:0.0:0.9324:0.0	.	454	Q7L099-3	.	H	454;401	ENSP00000370394:R454H;ENSP00000425400:R401H	ENSP00000370394:R454H	R	+	2	0	RUFY3	71878389	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.508000	0.81686	1.488000	0.48433	0.655000	0.94253	CGC		0.507	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		24	18	0	0	0	1	0	24	18				
MYLK4	340156	broad.mit.edu	37	6	2679602	2679602	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:2679602G>C	ENST00000274643.7	-	9	1141	c.799C>G	c.(799-801)Cca>Gca	p.P267A	MYLK4_ENST00000268446.5_Missense_Mutation_p.P267A	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGAAATTCTGGGGTTCCAAAG	0.448																																						ENST00000274643.7																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23						c.(799-801)Cca>Gca		myosin light chain kinase family, member 4							201.0	205.0	204.0					6																	2679602		2203	4300	6503	SO:0001583	missense	340156						ATP binding|protein serine/threonine kinase activity	g.chr6:2679602G>C		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.799C>G	6.37:g.2679602G>C	ENSP00000274643:p.Pro267Ala					MYLK4_ENST00000268446.5_Missense_Mutation_p.P267A	p.P267A	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN			9	1141	-	Ovarian(93;0.0412)	all_hematologic(90;0.0897)	267			Protein kinase.		A2RUC0|Q5TAW2	Missense_Mutation	SNP	ENST00000274643.7	37	c.799C>G	CCDS34330.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046900	0.75846	.	.	ENSG00000145949	ENST00000268446;ENST00000274643	T;T	0.46063	0.88;0.88	5.11	5.11	0.69529	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45606	D	0.000358	T	0.55386	0.1917	M	0.64080	1.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52815	-0.8525	10	0.42905	T	0.14	.	17.8881	0.88863	0.0:0.0:1.0:0.0	.	267	Q86YV6	MYLK4_HUMAN	A	267	ENSP00000268446:P267A;ENSP00000274643:P267A	ENSP00000268446:P267A	P	-	1	0	MYLK4	2624601	1.000000	0.71417	0.945000	0.38365	0.789000	0.44602	9.869000	0.99810	2.532000	0.85374	0.655000	0.94253	CCA		0.448	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418		15	194	0	0	0	1	0	15	194				
CXCR6	10663	broad.mit.edu	37	3	45988956	45988956	+	Missense_Mutation	SNP	T	T	C	rs528341308		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr3:45988956T>C	ENST00000458629.1	+	1	2446	c.983T>C	c.(982-984)tTt>tCt	p.F328S	CXCR6_ENST00000438735.1_Missense_Mutation_p.F328S|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000296137.2_Intron|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.F328S|CXCR6_ENST00000457814.1_Missense_Mutation_p.F328S			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	328					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|viral genome replication (GO:0019079)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TCCAAGACTTTTTCTGCCTCC	0.483													T|||	1	0.000199681	0.0	0.0	5008	,	,		22037	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(63;1005 1117 15521 45762 47089)	ENST00000458629.1																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8						c.(982-984)tTt>tCt		chemokine (C-X-C motif) receptor 6							91.0	85.0	87.0					3																	45988956		2203	4300	6503	SO:0001583	missense	10663				viral genome replication	integral to plasma membrane	coreceptor activity	g.chr3:45988956T>C	AF007545	CCDS2735.1	3p21	2012-08-08			ENSG00000172215	ENSG00000172215		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	16647	protein-coding gene	gene with protein product		605163				9166430, 9230441	Standard	XM_005264809		Approved	TYMSTR, STRL33, BONZO, CD186	uc003cpc.1	O00574	OTTHUMG00000133448	ENST00000458629.1:c.983T>C	3.37:g.45988956T>C	ENSP00000395704:p.Phe328Ser					CXCR6_ENST00000438735.1_Missense_Mutation_p.F328S|CXCR6_ENST00000457814.1_Missense_Mutation_p.F328S|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.F328S|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000438446.1_Intron	p.F328S			O00574	CXCR6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	1	2446	+			328					O00575|Q9HCA5	Missense_Mutation	SNP	ENST00000458629.1	37	c.983T>C	CCDS2735.1	.	.	.	.	.	.	.	.	.	.	T	6.410	0.443853	0.12164	.	.	ENSG00000172215	ENST00000438735;ENST00000304552;ENST00000458629;ENST00000457814	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.46	-5.84	0.02318	.	.	.	.	.	T	0.35068	0.0919	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19451	-1.0305	9	0.21540	T	0.41	.	6.199	0.20565	0.0601:0.1893:0.2246:0.5259	.	328	O00574	CXCR6_HUMAN	S	328	ENSP00000396218:F328S;ENSP00000304414:F328S;ENSP00000395704:F328S;ENSP00000396886:F328S	ENSP00000304414:F328S	F	+	2	0	CXCR6	45963960	0.000000	0.05858	0.000000	0.03702	0.512000	0.34134	-1.159000	0.03150	-0.617000	0.05664	-0.429000	0.05907	TTT		0.483	CXCR6-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344395.1			23	69	0	0	0	1	0	23	69				
TP53	7157	broad.mit.edu	37	17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:7578208T>C	ENST00000269305.4	-	6	830	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000420246.2_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R	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	214	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)	CACCACACTATGTCGAAAAGT	0.542		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"""		98	Substitution - Missense(69)|Deletion - Frameshift(12)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)	lung(27)|liver(12)|ovary(8)|biliary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|large_intestine(5)|urinary_tract(5)|prostate(4)|bone(4)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|skin(1)|pancreas(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						c.(640-642)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							127.0	114.0	119.0					17																	7578208		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.chr17:7578208T>C	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.641A>G	17.37:g.7578208T>C	ENSP00000269305:p.His214Arg	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_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R	p.H214R	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)	6	773	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	214		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.641A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	35	5.548167	0.96488	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052737	0.85682	D	0.000000	D	0.99664	0.9875	M	0.75615	2.305	0.80722	D	1	D;D;P;D;D;D;D	0.76494	0.999;0.992;0.733;0.999;0.994;0.994;0.999	D;D;B;D;D;D;D	0.74674	0.984;0.947;0.376;0.982;0.95;0.968;0.962	D	0.97475	1.0043	10	0.72032	D	0.01	-26.1151	13.4753	0.61306	0.0:0.0:0.0:1.0	.	175;214;214;121;214;214;214	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	214;214;214;214;214;214;203;121;82;121;82	ENSP00000410739:H214R;ENSP00000352610:H214R;ENSP00000269305:H214R;ENSP00000398846:H214R;ENSP00000391127:H214R;ENSP00000391478:H214R;ENSP00000425104:H82R;ENSP00000423862:H121R	ENSP00000269305:H214R	H	-	2	0	TP53	7518933	1.000000	0.71417	0.283000	0.24790	0.961000	0.63080	7.996000	0.88334	2.128000	0.65567	0.460000	0.39030	CAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	18	0	0	0	1	0	11	18				
UBXN11	91544	broad.mit.edu	37	1	26629321	26629321	+	Silent	SNP	C	C	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:26629321C>T	ENST00000374222.1	-	3	518	c.54G>A	c.(52-54)tcG>tcA	p.S18S	UBXN11_ENST00000357089.4_Silent_p.S18S|UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000314675.7_Silent_p.S18S|UBXN11_ENST00000374221.3_Silent_p.S18S|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374217.2_Silent_p.S18S			Q5T124	UBX11_HUMAN	UBX domain protein 11	18						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S18S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCATAGGCTCCGAGGGCAGGG	0.547																																						ENST00000314675.7																			1	Substitution - coding silent(1)	p.S18S(1)	endometrium(1)	endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(52-54)tcG>tcA		UBX domain protein 11							55.0	58.0	57.0					1																	26629321		1867	4100	5967	SO:0001819	synonymous_variant	91544					cytoplasm|cytoskeleton		g.chr1:26629321C>T	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.54G>A	1.37:g.26629321C>T						UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000374221.3_Silent_p.S18S|UBXN11_ENST00000374223.1_Intron|UBXN11_ENST00000374217.2_Silent_p.S18S|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374222.1_Silent_p.S18S|UBXN11_ENST00000357089.4_Silent_p.S18S	p.S18S	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			2	133	-			18					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Silent	SNP	ENST00000374222.1	37	c.54G>A	CCDS41288.1																																																																																				0.547	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		16	19	0	0	0	1	0	16	19				
TRERF1	55809	broad.mit.edu	37	6	42210985	42210985	+	Splice_Site	SNP	C	C	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:42210985C>T	ENST00000372922.4	-	15	3422		c.e15+1		TRERF1_ENST00000541110.1_Splice_Site|TRERF1_ENST00000354325.2_Splice_Site|TRERF1_ENST00000372917.4_Splice_Site|TRERF1_ENST00000340840.2_Splice_Site	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1						cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTTCACTCACCACACAATCG	0.542																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.e15+1		transcriptional regulating factor 1							189.0	149.0	162.0					6																	42210985		2203	4300	6503	SO:0001630	splice_region_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42210985C>T	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2859+1G>A	6.37:g.42210985C>T						TRERF1_ENST00000372922.4_Splice_Site|TRERF1_ENST00000372917.4_Splice_Site|TRERF1_ENST00000354325.2_Splice_Site|TRERF1_ENST00000340840.2_Splice_Site				Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		15	3488	-	Colorectal(47;0.196)							Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Splice_Site	SNP	ENST00000372922.4	37		CCDS4867.1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.869830	0.51588	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	.	.	.	5.86	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0501	0.71862	0.0:0.9313:0.0:0.0687	.	.	.	.	.	-1	.	.	.	-	.	.	TRERF1	42318963	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	4.959000	0.63666	1.633000	0.50488	0.651000	0.88453	.		0.542	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	Intron	25	61	0	0	0	1	0	25	61				
FAM208A	23272	broad.mit.edu	37	3	56675529	56675529	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr3:56675529T>C	ENST00000493960.2	-	15	2477	c.2467A>G	c.(2467-2469)Aaa>Gaa	p.K823E	FAM208A_ENST00000355628.5_Missense_Mutation_p.K823E|FAM208A_ENST00000431842.2_Missense_Mutation_p.K427E	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	823							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TCATAGTCTTTCTTATCTGGG	0.403																																						ENST00000431842.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						c.(1279-1281)Aaa>Gaa		family with sequence similarity 208, member A							150.0	130.0	137.0					3																	56675529		2203	4300	6503	SO:0001583	missense	23272							g.chr3:56675529T>C	AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.2467A>G	3.37:g.56675529T>C	ENSP00000417509:p.Lys823Glu					FAM208A_ENST00000493960.2_Missense_Mutation_p.K823E|FAM208A_ENST00000355628.5_Missense_Mutation_p.K823E	p.K427E	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN			8	2203	-			823					A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	ENST00000493960.2	37	c.1279A>G	CCDS46853.1	.	.	.	.	.	.	.	.	.	.	T	1.636	-0.517849	0.04171	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.11063	2.81;2.99;3.02	5.99	3.65	0.41850	.	0.175624	0.41294	D	0.000918	T	0.05227	0.0139	N	0.22421	0.69	0.34028	D	0.65353	B;B;B	0.20052	0.041;0.017;0.005	B;B;B	0.22386	0.039;0.015;0.012	T	0.28681	-1.0036	10	0.02654	T	1	-22.1943	4.3581	0.11188	0.0:0.349:0.0:0.651	.	823;823;427	Q9UK61-3;Q9UK61-4;Q9UK61-2	.;.;.	E	427;823;823	ENSP00000399410:K427E;ENSP00000417509:K823E;ENSP00000347845:K823E	ENSP00000347845:K823E	K	-	1	0	C3orf63	56650569	1.000000	0.71417	1.000000	0.80357	0.502000	0.33828	3.369000	0.52365	1.091000	0.41335	-0.256000	0.11100	AAA		0.403	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352352.2	NM_015224		41	75	0	0	0	1	0	41	75				
RAD51AP2	729475	broad.mit.edu	37	2	17697556	17697556	+	Silent	SNP	C	C	T			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr2:17697556C>T	ENST00000399080.2	-	1	2150	c.2127G>A	c.(2125-2127)caG>caA	p.Q709Q		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	709								p.Q709H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACTCATATTCTGACAAGTAA	0.313																																						ENST00000399080.2																			1	Substitution - Missense(1)	p.Q709H(1)	lung(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2125-2127)caG>caA		RAD51 associated protein 2							65.0	62.0	63.0					2																	17697556		1811	4072	5883	SO:0001819	synonymous_variant	729475							g.chr2:17697556C>T	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.2127G>A	2.37:g.17697556C>T							p.Q709Q	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	2150	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		709						Silent	SNP	ENST00000399080.2	37	c.2127G>A	CCDS42656.1																																																																																				0.313	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		4	84	0	0	0	1	0	4	84				
APOBEC3F	200316	broad.mit.edu	37	22	39448228	39448228	+	Silent	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr22:39448228G>A	ENST00000308521.5	+	6	1230	c.873G>A	c.(871-873)ctG>ctA	p.L291L	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	291					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCGAGTTCCTGGCCAGGCACA	0.567																																						ENST00000308521.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.(871-873)ctG>ctA		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F							55.0	62.0	59.0					22																	39448228		2203	4296	6499	SO:0001819	synonymous_variant	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39448228G>A	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.873G>A	22.37:g.39448228G>A						APOBEC3G_ENST00000452957.2_Intron	p.L291L	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN			6	1230	+	Melanoma(58;0.04)		299					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP	ENST00000308521.5	37	c.873G>A	CCDS33648.1																																																																																				0.567	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298		30	67	0	0	0	1	0	30	67				
ATRX	546	broad.mit.edu	37	X	76938326	76938326	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chrX:76938326G>A	ENST00000373344.5	-	9	2636	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R770*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	808					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						tGGGTTTGTCGTTTCTTTTTA	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2422-2424)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						96.0	104.0	101.0					X																	76938326		2202	4294	6496	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938326G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2422C>T	X.37:g.76938326G>A	ENSP00000362441:p.Arg808*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R770*	p.R808*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2636	-			808					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2422C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	41	8.693234	0.98916	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.73	5.73	0.89815	.	0.077314	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1692	14.4194	0.67173	0.0:0.1432:0.8568:0.0	.	.	.	.	X	808;770;735	.	ENSP00000362441:R808X	R	-	1	2	ATRX	76824982	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.064000	0.64338	2.399000	0.81585	0.466000	0.42574	CGA		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		86	44	0	0	0	1	0	86	44				
PTPN12	5782	broad.mit.edu	37	7	77256458	77256458	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr7:77256458G>A	ENST00000248594.6	+	13	1734	c.1462G>A	c.(1462-1464)Ggt>Agt	p.G488S	PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S|PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	488					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCTAAATGTCGGTGATACTTC	0.383																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(1462-1464)Ggt>Agt		protein tyrosine phosphatase, non-receptor type 12							70.0	69.0	69.0					7																	77256458		2203	4300	6503	SO:0001583	missense	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256458G>A		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1462G>A	7.37:g.77256458G>A	ENSP00000248594:p.Gly488Ser					PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S|PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S	p.G488S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			13	1734	+			488					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.1462G>A	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	g	0.064	-1.216375	0.01542	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495	T;T;T	0.05925	3.96;3.37;3.37	5.92	0.738	0.18319	.	0.610150	0.17747	N	0.163343	T	0.02418	0.0074	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.48536	-0.9027	10	0.10377	T	0.69	.	8.9549	0.35812	0.1963:0.192:0.6117:0.0	.	488	Q05209	PTN12_HUMAN	S	488;369;369;358	ENSP00000248594:G488S;ENSP00000392429:G369S;ENSP00000397991:G358S	ENSP00000248594:G488S	G	+	1	0	PTPN12	77094394	0.014000	0.17966	0.000000	0.03702	0.227000	0.25037	1.413000	0.34725	-0.342000	0.08363	-1.972000	0.00464	GGT		0.383	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			21	45	0	0	0	1	0	21	45				
PRSS3P2	154754	broad.mit.edu	37	7	142481923	142481925	+	RNA	DEL	CAA	CAA	-	rs201697815		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr7:142481923_142481925delCAA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GTGATTAGACCAACCCTTCCCAT	0.537																																						ENST00000603901.1																			0																																																			0							g.chr7:142481923_142481925delCAA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481923_142481925delCAA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.537	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		8	48						8	48	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7196263	7196264	+	lincRNA	DEL	AC	AC	-			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		ACTGAGGGGTacacacacacac	0.5																																						ENST00000606573.1																			0																																																			0							g.chr8:7196263_7196264delAC			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7196273_7196274delAC														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.500	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		2	4						2	4	---	---	---	---
LOC101928823	101928823	broad.mit.edu	37	11	112332120	112332121	+	lincRNA	INS	-	-	T	rs545871933|rs111710457	byFrequency	TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr11:112332120_112332121insT	ENST00000528496.1	+	0	231																											CTGATTTTATGTTTTTTTTTTT	0.376																																						ENST00000528496.1																			0																																																			0							g.chr11:112332120_112332121insT																													11.37:g.112332131_112332131dupT														0	231	+									RNA	INS	ENST00000528496.1	37																																																																																						0.376	RP11-65M17.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000393672.1			2	4						2	4	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21392085	21392086	+	Frame_Shift_Ins	INS	-	-	T	rs375293385		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr12:21392085_21392086insT	ENST00000256958.2	+	15	2134_2135	c.2038_2039insT	c.(2038-2040)gtcfs	p.V680fs		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	680					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TAAACATTTTGTCCCTTCTGCT	0.351																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(2038-2040)cccfs		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)																																			SO:0001589	frameshift_variant	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21392085_21392086insT		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.2039dupT	12.37:g.21392086_21392086dupT	ENSP00000256958:p.Val680fs						p.P680fs	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			15	2134_2135	+			680					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Frame_Shift_Ins	INS	ENST00000256958.2	37	c.2038_2039insT	CCDS8685.1																																																																																				0.351	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		29	73						29	73	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49442512	49442514	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr12:49442512_49442514delTCC	ENST00000301067.7	-	13	4058_4060	c.4059_4061delGGA	c.(4057-4062)gaggaa>gaa	p.1353_1354EE>E		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1353	Poly-Glu.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATCATCTTCTTCCTCCTCCTCCT	0.478																																						ENST00000301067.7																			0											c.(4057-4062)gaa>ga		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49442512_49442514delTCC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4059_4061delGGA	12.37:g.49442521_49442523delTCC	ENSP00000301067:p.Glu1355del						p.EE1353del	NM_003482.3	NP_003473.3					13	4058_4060	-								O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.4059_4061delGGA	CCDS44873.1																																																																																				0.478	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	307						7	307	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578250	7578250	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:7578250delT	ENST00000269305.4	-	6	788	c.599delA	c.(598-600)aatfs	p.N200fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N200fs	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	200	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; 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.0?(8)|p.?(5)|p.N200fs*47(2)|p.N200I(2)|p.N200S(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*9(1)|p.N200fs*8(1)|p.P191fs*6(1)|p.N200T(1)|p.G199fs*42(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)	CACACGCAAATTTCCTTCCAC	0.547		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"""		27	Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(6)|Substitution - Missense(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.0?(8)|p.?(5)|p.N200fs*47(2)|p.N200I(2)|p.N200S(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*9(1)|p.N200fs*8(1)|p.P191fs*6(1)|p.N200T(1)|p.G199fs*42(1)	biliary_tract(5)|central_nervous_system(4)|bone(4)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|skin(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(1)|pancreas(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						c.(598-600)atfs	Other conserved DNA damage response genes	tumor protein p53							119.0	107.0	111.0					17																	7578250		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7578250delT	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.599delA	17.37:g.7578250delT	ENSP00000269305:p.Asn200fs	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_ENST00000413465.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.N200fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N200fs	p.N200fs	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)	6	731	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	200		N -> D (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; 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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.599delA	CCDS11118.1																																																																																				0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	30						11	30	---	---	---	---
LRP3	4037	broad.mit.edu	37	19	33698349	33698349	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr19:33698349delC	ENST00000253193.7	+	7	2383	c.2181delC	c.(2179-2181)cacfs	p.H727fs	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	727					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGGACCCGCACCCCCAGGTCT	0.701																																						ENST00000253193.7																			0				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15						c.(2179-2181)cafs		low density lipoprotein receptor-related protein 3							9.0	9.0	9.0					19																	33698349		2168	4254	6422	SO:0001589	frameshift_variant	4037				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity	g.chr19:33698349delC	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.2181delC	19.37:g.33698349delC	ENSP00000253193:p.His727fs						p.H727fs	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN			7	2383	+	Esophageal squamous(110;0.137)		727					B3KQD6|B4DKF2	Frame_Shift_Del	DEL	ENST00000253193.7	37	c.2181delC	CCDS12430.1																																																																																				0.701	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4			2	4						2	4	---	---	---	---
