#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
ULK2	9706	broad.mit.edu	37	17	19720091	19720091	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:19720091A>C	ENST00000395544.4	-	13	1566	c.1067T>G	c.(1066-1068)gTg>gGg	p.V356G	ULK2_ENST00000361658.2_Missense_Mutation_p.V356G|ULK2_ENST00000580130.1_Intron	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	356					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|negative regulation of collateral sprouting (GO:0048671)|protein autophosphorylation (GO:0046777)|regulation of autophagy (GO:0010506)|response to starvation (GO:0042594)|signal transduction (GO:0007165)	ATG1/UKL1 signaling complex (GO:0034273)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|pre-autophagosomal structure membrane (GO:0034045)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTTGTGTGGCACCAAAACAAA	0.398																																						ENST00000395544.4																			0				large_intestine(1)|skin(4)|stomach(1)	6						c.(1066-1068)gTg>gGg		unc-51 like autophagy activating kinase 2							123.0	112.0	116.0					17																	19720091		2203	4300	6503	SO:0001583	missense	9706				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:19720091A>C	AB014523	CCDS11213.1	17p11.2	2014-02-12	2013-07-02		ENSG00000083290	ENSG00000083290	2.7.11.1		13480	protein-coding gene	gene with protein product		608650	"""unc-51 (C. elegans)-like kinase 2"", ""unc-51-like kinase 2 (C. elegans)"""			10557072	Standard	NM_014683		Approved	KIAA0623, Unc51.2, ATG1B	uc002gwn.3	Q8IYT8	OTTHUMG00000059511	ENST00000395544.4:c.1067T>G	17.37:g.19720091A>C	ENSP00000378914:p.Val356Gly					ULK2_ENST00000580130.1_Intron|ULK2_ENST00000361658.2_Missense_Mutation_p.V356G	p.V356G	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN			13	1566	-	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)		356					A8MY69|O75119	Missense_Mutation	SNP	ENST00000395544.4	37	c.1067T>G	CCDS11213.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.570267	0.86542	.	.	ENSG00000083290	ENST00000361658;ENST00000395544	T;T	0.79247	-1.25;-1.25	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.87337	0.6152	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.88888	0.3344	10	0.87932	D	0	-12.7927	14.726	0.69343	1.0:0.0:0.0:0.0	.	356	Q8IYT8	ULK2_HUMAN	G	356	ENSP00000354877:V356G;ENSP00000378914:V356G	ENSP00000354877:V356G	V	-	2	0	ULK2	19660683	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.701000	0.91331	2.047000	0.60756	0.455000	0.32223	GTG		0.398	ULK2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132375.2	NM_014683		37	44	0	0	0	0.008740	0	37	44				
HLA-F-AS1	285830	broad.mit.edu	37	6	29713481	29713481	+	RNA	SNP	G	G	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:29713481G>T	ENST00000458236.1	-	0	117									HLA-F antisense RNA 1																		AGCACCGTGAGGTTGTAACAA	0.507																																						ENST00000458236.1																			0																																																			0							g.chr6:29713481G>T	AK092748		6p22.1	2013-06-03	2012-08-15		ENSG00000214922	ENSG00000214922		"""Long non-coding RNAs"""	26645	non-coding RNA	RNA, long non-coding			"""HLA-F antisense RNA 1 (non-protein coding)"""				Standard	NR_026972		Approved		uc003nnp.2		OTTHUMG00000185970		6.37:g.29713481G>T														0	117	-									RNA	SNP	ENST00000458236.1	37																																																																																						0.507	HLA-F-AS1-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000471862.1	NR_026972		5	36	1	0	3.59834e-05	0.001168	3.90181e-05	5	36				
OR13A1	79290	broad.mit.edu	37	10	45799644	45799644	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:45799644G>C	ENST00000553795.1	-	4	535	c.227C>G	c.(226-228)cCt>cGt	p.P76R	OR13A1_ENST00000536058.1_Missense_Mutation_p.P76R|OR13A1_ENST00000374401.2_Missense_Mutation_p.P76R	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AAAGTACATAGGAGCGTGGAG	0.517																																						ENST00000553795.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						c.(226-228)cCt>cGt		olfactory receptor, family 13, subfamily A, member 1							93.0	103.0	99.0					10																	45799644		2203	4300	6503	SO:0001583	missense	79290				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr10:45799644G>C	AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.227C>G	10.37:g.45799644G>C	ENSP00000451950:p.Pro76Arg					OR13A1_ENST00000536058.1_Missense_Mutation_p.P76R|OR13A1_ENST00000374401.2_Missense_Mutation_p.P76R	p.P76R	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN			4	535	-			76					Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Missense_Mutation	SNP	ENST00000553795.1	37	c.227C>G	CCDS31188.1	.	.	.	.	.	.	.	.	.	.	g	11.45	1.642118	0.29157	.	.	ENSG00000256574	ENST00000553795;ENST00000536058;ENST00000374401	T;T;T	0.02032	4.49;4.49;4.49	5.14	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.177029	0.27366	N	0.019691	T	0.14056	0.0340	H	0.98426	4.23	0.30487	N	0.771727	P	0.34909	0.475	B	0.42995	0.404	T	0.15150	-1.0447	10	0.72032	D	0.01	-85.9096	14.6467	0.68767	0.0:0.4179:0.5821:0.0	.	76	Q8NGR1	O13A1_HUMAN	R	76	ENSP00000451950:P76R;ENSP00000438657:P76R;ENSP00000363522:P76R	ENSP00000311379:P76R	P	-	2	0	OR13A1	45119650	1.000000	0.71417	0.315000	0.25238	0.152000	0.21847	6.367000	0.73099	0.245000	0.21373	-0.162000	0.13425	CCT		0.517	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047779.2	NM_001004297		6	19	0	0	0	0.001984	0	6	19				
AURKA	6790	broad.mit.edu	37	20	54956513	54956513	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr20:54956513C>A	ENST00000347343.2	-	6	948	c.681G>T	c.(679-681)aaG>aaT	p.K227N	AURKA_ENST00000312783.6_Missense_Mutation_p.K227N|AURKA_ENST00000395915.3_Missense_Mutation_p.K227N|AURKA_ENST00000395911.1_Missense_Mutation_p.K227N|AURKA_ENST00000371356.2_Missense_Mutation_p.K227N|AURKA_ENST00000395913.3_Missense_Mutation_p.K227N|AURKA_ENST00000395914.1_Missense_Mutation_p.K227N|AURKA_ENST00000395907.1_Missense_Mutation_p.K227N|AURKA_ENST00000395909.4_Missense_Mutation_p.K227N	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	227	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GCTCATCAAACTTTGAAAGTT	0.373																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	ENST00000395909.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22						c.(679-681)aaG>aaT		aurora kinase A							120.0	116.0	117.0					20																	54956513		2203	4300	6503	SO:0001583	missense	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54956513C>A	BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.681G>T	20.37:g.54956513C>A	ENSP00000216911:p.Lys227Asn					AURKA_ENST00000395915.3_Missense_Mutation_p.K227N|AURKA_ENST00000347343.2_Missense_Mutation_p.K227N|AURKA_ENST00000371356.2_Missense_Mutation_p.K227N|AURKA_ENST00000395907.1_Missense_Mutation_p.K227N|AURKA_ENST00000395914.1_Missense_Mutation_p.K227N|AURKA_ENST00000312783.6_Missense_Mutation_p.K227N|AURKA_ENST00000395911.1_Missense_Mutation_p.K227N|AURKA_ENST00000395913.3_Missense_Mutation_p.K227N	p.K227N	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	Colorectal(105;0.202)		8	1246	-			227			Protein kinase.		E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Missense_Mutation	SNP	ENST00000347343.2	37	c.681G>T	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509284	0.44660	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357	T;T;T;T;T;T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1;3.1	5.5	2.5	0.30297	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.391441	0.26467	N	0.024219	T	0.12987	0.0315	L	0.41356	1.27	0.43936	D	0.996599	B;D;B;B;P	0.56521	0.126;0.976;0.229;0.382;0.582	B;P;B;P;P	0.54856	0.241;0.762;0.241;0.495;0.495	T	0.01869	-1.1257	10	0.72032	D	0.01	-46.7358	9.2265	0.37410	0.0:0.6023:0.0:0.3977	.	227;159;227;227;227	Q5QPD4;B4DX16;A3KFJ0;B2R6Z3;O14965	.;.;.;.;AURKA_HUMAN	N	227	ENSP00000379245:K227N;ENSP00000379250:K227N;ENSP00000216911:K227N;ENSP00000379251:K227N;ENSP00000321591:K227N;ENSP00000360407:K227N;ENSP00000379249:K227N;ENSP00000379247:K227N;ENSP00000379243:K227N;ENSP00000393452:K227N	ENSP00000321591:K227N	K	-	3	2	AURKA	54389920	0.195000	0.23338	0.973000	0.42090	0.993000	0.82548	0.230000	0.17852	0.805000	0.34159	-0.142000	0.14014	AAG		0.373	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600		15	81	1	0	9.16793e-09	0.004990	1.04445e-08	15	81				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			3	64	0	0	0	0.004672	0	3	64				
CLDN6	9074	broad.mit.edu	37	16	3065807	3065807	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:3065807C>T	ENST00000396925.1	-	3	644	c.216G>A	c.(214-216)gcG>gcA	p.A72A	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.A72A|TNFRSF12A_ENST00000573001.1_5'Flank			P56747	CLD6_HUMAN	claudin 6	72					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCTGTGGCAGCGCCAGCAGTG	0.642																																						ENST00000396925.1																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(214-216)gcG>gcA		claudin 6							97.0	72.0	80.0					16																	3065807		2198	4300	6498	SO:0001819	synonymous_variant	9074				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr16:3065807C>T	AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.216G>A	16.37:g.3065807C>T						CLDN6_ENST00000328796.4_Silent_p.A72A|CLDN6_ENST00000572154.1_Intron	p.A72A			P56747	CLD6_HUMAN			3	644	-			72					B3KQP9|D3DUA5	Silent	SNP	ENST00000396925.1	37	c.216G>A	CCDS10488.1																																																																																				0.642	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250988.1	NM_021195		22	28	0	0	0	0.010504	0	22	28				
C6orf222	389384	broad.mit.edu	37	6	36290199	36290199	+	Missense_Mutation	SNP	G	G	A	rs372110549		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:36290199G>A	ENST00000437635.2	-	9	1669	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	498										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AGGGGCTCCCGGCACTCGAGA	0.567																																						ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(1492-1494)Cgg>Tgg		chromosome 6 open reading frame 222		G	TRP/ARG	0,4406		0,0,2203	92.0	86.0	88.0		1492	3.9	0.0	6		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	C6orf222	NM_001010903.4	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	498/653	36290199	1,13005	2203	4300	6503	SO:0001583	missense	389384							g.chr6:36290199G>A		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.1492C>T	6.37:g.36290199G>A	ENSP00000418983:p.Arg498Trp						p.R498W	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			9	1669	-			498					B2RTY8	Missense_Mutation	SNP	ENST00000437635.2	37	c.1492C>T	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.196598	0.38806	0.0	1.16E-4	ENSG00000189325	ENST00000437635	T	0.49720	0.77	3.9	3.9	0.45041	.	0.834796	0.10323	N	0.688480	T	0.27313	0.0670	N	0.22421	0.69	0.09310	N	1	D	0.63880	0.993	P	0.47705	0.555	T	0.10042	-1.0647	10	0.87932	D	0	-21.1908	11.7078	0.51607	0.0:0.0:1.0:0.0	.	498	P0C671	CF222_HUMAN	W	498	ENSP00000418983:R498W	ENSP00000418983:R498W	R	-	1	2	C6orf222	36398177	0.836000	0.29430	0.040000	0.18447	0.001000	0.01503	2.392000	0.44433	2.465000	0.83290	0.563000	0.77884	CGG		0.567	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903		11	75	0	0	0	0.010729	0	11	75				
XPNPEP1	7511	broad.mit.edu	37	10	111647887	111647887	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:111647887T>C	ENST00000502935.1	-	7	691	c.572A>G	c.(571-573)gAg>gGg	p.E191G	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.E77G|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.E148G|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.E191G					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACGAGGTTCTCCTTGACAGG	0.522																																						ENST00000502935.1																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(571-573)gAg>gGg		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							83.0	72.0	76.0					10																	111647887		2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111647887T>C		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.572A>G	10.37:g.111647887T>C	ENSP00000421566:p.Glu191Gly					XPNPEP1_ENST00000322238.8_Missense_Mutation_p.E191G|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.E77G|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.E148G	p.E191G			Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	7	691	-		Breast(234;0.174)	148						Missense_Mutation	SNP	ENST00000502935.1	37	c.572A>G	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	T	16.44	3.124498	0.56613	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.74	5.74	0.90152	Creatinase (1);	0.150702	0.64402	D	0.000015	T	0.45696	0.1355	L	0.35723	1.085	0.46981	D	0.999277	B;B;B	0.13594	0.008;0.0;0.001	B;B;B	0.14578	0.011;0.002;0.004	T	0.36553	-0.9743	9	0.25751	T	0.34	-14.9707	10.5932	0.45321	0.0:0.0745:0.0:0.9255	.	191;191;148	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	G	191;77;191;148;148;148	.	ENSP00000324011:E191G	E	-	2	0	XPNPEP1	111637877	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.282000	0.65615	2.182000	0.69389	0.496000	0.49642	GAG		0.522	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			5	17	0	0	0	0.000602	0	5	17				
GPR125	166647	broad.mit.edu	37	4	22436987	22436987	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr4:22436987C>T	ENST00000334304.5	-	10	1659	c.1390G>A	c.(1390-1392)Gca>Aca	p.A464T	GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000502482.1_Missense_Mutation_p.A464T|GPR125_ENST00000508133.1_Missense_Mutation_p.A238T	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	464					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATCATTTCTGCCACAAATATA	0.393																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(1390-1392)Gca>Aca		G protein-coupled receptor 125							81.0	81.0	81.0					4																	22436987		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22436987C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1390G>A	4.37:g.22436987C>T	ENSP00000334952:p.Ala464Thr					GPR125_ENST00000502482.1_Missense_Mutation_p.A464T|GPR125_ENST00000508133.1_Missense_Mutation_p.A238T|GPR125_ENST00000282943.5_5'UTR	p.A464T	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			10	1659	-		Breast(46;0.198)	464					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.1390G>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	C	31	5.081468	0.94050	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T;T	0.51817	0.69;0.69;0.69	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.61837	0.2379	L	0.38175	1.15	0.80722	D	1	D;P;D;P	0.67145	0.985;0.938;0.996;0.456	D;P;D;B	0.79784	0.919;0.747;0.993;0.068	T	0.64236	-0.6455	10	0.72032	D	0.01	-44.5052	19.2098	0.93749	0.0:1.0:0.0:0.0	.	339;464;238;464	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	T	464;238;464	ENSP00000334952:A464T;ENSP00000422606:A238T;ENSP00000421006:A464T	ENSP00000334952:A464T	A	-	1	0	GPR125	22046085	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.440000	0.80464	2.528000	0.85240	0.563000	0.77884	GCA		0.393	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			11	49	0	0	0	0.008291	0	11	49				
ZNF833P	401898	broad.mit.edu	37	19	11796444	11796444	+	lincRNA	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:11796444A>G	ENST00000344893.3	+	0	2443					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						CACTTATCCCAGTGCCTTTCA	0.353																																						ENST00000344893.3																			0				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5															56.0	56.0	56.0					19																	11796444		2203	4300	6503			0							g.chr19:11796444A>G	BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11796444A>G								NR_028594.1						0	2443	+								B2RPA0	RNA	SNP	ENST00000344893.3	37																																																																																						0.353	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	lincRNA	OTTHUMT00000458891.1	NM_001013691		18	26	0	0	0	0.006122	0	18	26				
LDLRAD4	753	broad.mit.edu	37	18	13645353	13645353	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr18:13645353G>A	ENST00000359446.5	+	6	1086	c.618G>A	c.(616-618)agG>agA	p.R206R	LDLRAD4_ENST00000361205.4_Silent_p.R206R|LDLRAD4_ENST00000587757.1_Silent_p.R169R|LDLRAD4_ENST00000592991.1_Silent_p.R108R|LDLRAD4_ENST00000585931.1_Silent_p.R129R|LDLRAD4_ENST00000399848.3_Silent_p.R188R|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000586765.1_Silent_p.R151R	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	206					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										AGTCCGTGAGGGCCCCACCCA	0.582																																						ENST00000361205.4																			0											c.(616-618)agG>agA		low density lipoprotein receptor class A domain containing 4							79.0	87.0	84.0					18																	13645353		2203	4300	6503	SO:0001819	synonymous_variant	753							g.chr18:13645353G>A	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.618G>A	18.37:g.13645353G>A						RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000587757.1_Silent_p.R169R|LDLRAD4_ENST00000586765.1_Silent_p.R151R|LDLRAD4_ENST00000359446.5_Silent_p.R206R|LDLRAD4_ENST00000592991.1_Silent_p.R108R|LDLRAD4_ENST00000585931.1_Silent_p.R129R|LDLRAD4_ENST00000399848.3_Silent_p.R188R	p.R206R	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1					7	1286	+								B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Silent	SNP	ENST00000359446.5	37	c.618G>A	CCDS32793.1																																																																																				0.582	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		8	71	0	0	0	0.004482	0	8	71				
POSTN	10631	broad.mit.edu	37	13	38153417	38153417	+	Silent	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr13:38153417A>G	ENST00000379747.4	-	13	1857	c.1740T>C	c.(1738-1740)ggT>ggC	p.G580G	POSTN_ENST00000379749.4_Silent_p.G580G|POSTN_ENST00000379742.4_Silent_p.G580G|POSTN_ENST00000379743.4_Silent_p.G580G|POSTN_ENST00000541179.1_Silent_p.G580G|POSTN_ENST00000541481.1_Silent_p.G580G	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	580	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGTTAGTAACACCAGGTTCAA	0.333																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1738-1740)ggT>ggC		periostin, osteoblast specific factor							78.0	77.0	77.0					13																	38153417		2203	4296	6499	SO:0001819	synonymous_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38153417A>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1740T>C	13.37:g.38153417A>G						POSTN_ENST00000541481.1_Silent_p.G580G|POSTN_ENST00000379743.4_Silent_p.G580G|POSTN_ENST00000541179.1_Silent_p.G580G|POSTN_ENST00000379749.4_Silent_p.G580G|POSTN_ENST00000379742.4_Silent_p.G580G	p.G580G	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	13	1857	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	580			FAS1 4.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	ENST00000379747.4	37	c.1740T>C	CCDS9364.1																																																																																				0.333	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		11	29	0	0	0	0.008291	0	11	29				
MAST2	23139	broad.mit.edu	37	1	46474027	46474027	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:46474027A>G	ENST00000361297.2	+	9	1245	c.962A>G	c.(961-963)aAa>aGa	p.K321R	MAST2_ENST00000372009.2_Missense_Mutation_p.K321R	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CATGTTTACAAAGAAAGATTC	0.433																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(961-963)aAa>aGa		microtubule associated serine/threonine kinase 2							65.0	59.0	61.0					1																	46474027		1831	4083	5914	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46474027A>G	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.962A>G	1.37:g.46474027A>G	ENSP00000354671:p.Lys321Arg					MAST2_ENST00000372008.1_Missense_Mutation_p.K206R|MAST2_ENST00000372009.2_Missense_Mutation_p.K321R	p.K321R	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			9	1245	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		321						Missense_Mutation	SNP	ENST00000361297.2	37	c.962A>G	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421410	0.83559	.	.	ENSG00000086015	ENST00000361297;ENST00000372009;ENST00000432341;ENST00000372008	T;T;T	0.34072	1.38;1.38;1.38	4.98	4.98	0.66077	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	L	0.42487	1.325	0.23624	N	0.997267	B;D;B;D;P	0.76494	0.092;0.974;0.092;0.999;0.815	B;D;B;D;P	0.83275	0.162;0.953;0.162;0.996;0.631	T	0.44375	-0.9332	10	0.40728	T	0.16	-13.0508	14.6657	0.68907	1.0:0.0:0.0:0.0	.	29;321;29;321;321	B3KU51;Q6P0Q8-2;E7EWL1;E7ERL6;Q6P0Q8	.;.;.;.;MAST2_HUMAN	R	321;321;29;206	ENSP00000354671:K321R;ENSP00000361079:K321R;ENSP00000361078:K206R	ENSP00000354671:K321R	K	+	2	0	MAST2	46246614	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.265000	0.95647	1.847000	0.53656	0.459000	0.35465	AAA		0.433	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		8	31	0	0	0	0.003080	0	8	31				
FRK	2444	broad.mit.edu	37	6	116381413	116381413	+	Missense_Mutation	SNP	G	G	A	rs377628003		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:116381413G>A	ENST00000606080.1	-	1	508	c.62C>T	c.(61-63)aCg>aTg	p.T21M		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	21					cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GTCTGCCTCCGTGGACAAACA	0.537																																						ENST00000606080.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(61-63)aCg>aTg		fyn-related kinase		G	MET/THR	0,4406		0,0,2203	109.0	101.0	104.0		62	-4.1	0.0	6		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	FRK	NM_002031.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	21/506	116381413	1,13005	2203	4300	6503	SO:0001583	missense	2444				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr6:116381413G>A	U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.62C>T	6.37:g.116381413G>A	ENSP00000476145:p.Thr21Met						p.T21M	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	1	508	-		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)	21					B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	c.62C>T	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	G	3.486	-0.104936	0.06967	0.0	1.16E-4	ENSG00000111816	ENST00000368626	T	0.73789	-0.78	4.61	-4.12	0.03916	.	1.658490	0.03707	N	0.249518	T	0.23171	0.0560	N	0.08118	0	0.19300	N	0.999977	B	0.31077	0.307	B	0.16289	0.015	T	0.09552	-1.0669	10	0.46703	T	0.11	.	1.8247	0.03118	0.1243:0.3036:0.1382:0.4338	.	21	P42685	FRK_HUMAN	M	21	ENSP00000357615:T21M	ENSP00000357615:T21M	T	-	2	0	FRK	116488106	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.388000	0.02533	-0.867000	0.04063	-1.086000	0.02197	ACG		0.537	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031		9	110	0	0	0	0.013537	0	9	110				
LRRIQ3	127255	broad.mit.edu	37	1	74507115	74507115	+	Silent	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:74507115T>C	ENST00000395089.1	-	6	1499	c.1500A>G	c.(1498-1500)agA>agG	p.R500R	LRRIQ3_ENST00000354431.4_Silent_p.R500R			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	500										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACAGAGCTTTTCTCTCTCTAG	0.338																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(1498-1500)agA>agG		leucine-rich repeats and IQ motif containing 3							109.0	105.0	106.0					1																	74507115		1799	4070	5869	SO:0001819	synonymous_variant	127255							g.chr1:74507115T>C	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1500A>G	1.37:g.74507115T>C						LRRIQ3_ENST00000395089.1_Silent_p.R500R	p.R500R	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			7	1691	-			500					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.1500A>G	CCDS41350.1																																																																																				0.338	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		6	136	0	0	0	0.001168	0	6	136				
RXRG	6258	broad.mit.edu	37	1	165386373	165386373	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:165386373C>T	ENST00000359842.5	-	4	829	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	176					gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TTTATTATCCCGACACGTGTA	0.498																																						ENST00000359842.5																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38						c.(526-528)cGg>cAg		retinoid X receptor, gamma	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						189.0	163.0	171.0					1																	165386373		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165386373C>T	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.527G>A	1.37:g.165386373C>T	ENSP00000352900:p.Arg176Gln					RXRG_ENST00000470566.1_5'UTR	p.R176Q	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN			4	829	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		176					A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.527G>A	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	35	5.540263	0.96474	.	.	ENSG00000143171	ENST00000359842	D	0.97161	-4.27	4.96	4.96	0.65561	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.85682	D	0.000000	D	0.97885	0.9305	M	0.67397	2.05	0.80722	D	1.000000	D	0.71674	0.998	D	0.73380	0.98	D	0.98802	1.0740	9	0.87932	D	0	.	16.9732	0.86306	0.0:1.0:0.0:0.0	.	176	P48443	RXRG_HUMAN	Q	176	ENSP00000352900:R176Q	ENSP00000352900:R176Q	R	-	2	0	RXRG	163652997	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	5.529000	0.67135	2.565000	0.86533	0.655000	0.94253	CGG		0.498	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		4	103	0	0	0	0.009096	0	4	103				
TC2N	123036	broad.mit.edu	37	14	92268712	92268712	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr14:92268712G>T	ENST00000435962.2	-	4	678	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	TC2N_ENST00000556018.1_Missense_Mutation_p.Q119K|TC2N_ENST00000340892.5_Missense_Mutation_p.Q119K|TC2N_ENST00000360594.5_Missense_Mutation_p.Q119K	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	119					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GGTCCGTGCTGGGATGAACTG	0.418																																						ENST00000435962.2																			0				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18						c.(355-357)Cag>Aag		tandem C2 domains, nuclear							126.0	101.0	110.0					14																	92268712		2203	4300	6503	SO:0001583	missense	123036					nucleus		g.chr14:92268712G>T	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.355C>A	14.37:g.92268712G>T	ENSP00000387882:p.Gln119Lys					TC2N_ENST00000556018.1_Missense_Mutation_p.Q119K|TC2N_ENST00000360594.5_Missense_Mutation_p.Q119K|TC2N_ENST00000340892.5_Missense_Mutation_p.Q119K	p.Q119K	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	4	678	-			119						Missense_Mutation	SNP	ENST00000435962.2	37	c.355C>A	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	G	8.335	0.827452	0.16749	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	T;T;T;T	0.14640	3.4;3.4;3.4;2.49	5.23	3.13	0.36017	.	0.594456	0.18094	N	0.151893	T	0.11239	0.0274	L	0.43152	1.355	0.09310	N	1	B;B	0.30281	0.275;0.181	B;B	0.24701	0.055;0.036	T	0.18429	-1.0337	10	0.27785	T	0.31	0.0118	10.6527	0.45657	0.2094:0.0:0.7906:0.0	.	119;119	Q8N9U0-2;Q8N9U0	.;TAC2N_HUMAN	K	119	ENSP00000387882:Q119K;ENSP00000343199:Q119K;ENSP00000353802:Q119K;ENSP00000451317:Q119K	ENSP00000343199:Q119K	Q	-	1	0	TC2N	91338465	0.743000	0.28239	0.087000	0.20705	0.642000	0.38348	2.511000	0.45476	1.185000	0.42971	0.557000	0.71058	CAG		0.418	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332		14	62	1	0	0.000151284	0.001855	0.000158321	14	62				
HMCN1	83872	broad.mit.edu	37	1	185951454	185951454	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:185951454C>T	ENST00000271588.4	+	18	2952	c.2723C>T	c.(2722-2724)aCt>aTt	p.T908I	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.T908I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	908	Ig-like C2-type 6.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGCAGCTTACTTTGCCCTGT	0.418																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(2722-2724)aCt>aTt		hemicentin 1							175.0	166.0	169.0					1																	185951454		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185951454C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2723C>T	1.37:g.185951454C>T	ENSP00000271588:p.Thr908Ile					HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.T908I	p.T908I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			18	2952	+			908			Ig-like C2-type 6.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.2723C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085621	0.76642	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.44083	0.93;0.93	4.79	4.79	0.61399	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.51907	0.1702	L	0.37697	1.125	0.80722	D	1	P;P	0.50066	0.871;0.931	P;P	0.61940	0.896;0.664	T	0.40496	-0.9560	10	0.22109	T	0.4	.	17.8111	0.88616	0.0:1.0:0.0:0.0	.	292;908	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	I	908	ENSP00000271588:T908I;ENSP00000356462:T908I	ENSP00000271588:T908I	T	+	2	0	HMCN1	184218077	1.000000	0.71417	0.954000	0.39281	0.874000	0.50279	5.294000	0.65687	2.203000	0.70933	0.585000	0.79938	ACT		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		36	108	0	0	0	0.003271	0	36	108				
TFRC	7037	broad.mit.edu	37	3	195800987	195800987	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:195800987A>G	ENST00000360110.4	-	4	417	c.248T>C	c.(247-249)aTt>aCt	p.I83T	TFRC_ENST00000535031.1_Intron|TFRC_ENST00000392396.3_Missense_Mutation_p.I83T|TFRC_ENST00000420415.1_Missense_Mutation_p.I2T|TFRC_ENST00000540528.1_3'UTR|RNU7-18P_ENST00000516365.1_RNA	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	83					cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|osteoclast differentiation (GO:0030316)|positive regulation of bone resorption (GO:0045780)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|vesicle (GO:0031982)	double-stranded RNA binding (GO:0003725)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transferrin receptor activity (GO:0004998)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	Gallium nitrate(DB05260)	CAAGTAGCCAATCATAAATCC	0.423			T	BCL6	NHL																																	ENST00000360110.4				Dom	yes		3	3q29	7037	T	"""transferrin receptor (p90, CD71)"""			L	BCL6		NHL		0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(247-249)aTt>aCt		transferrin receptor							70.0	73.0	72.0					3																	195800987		2203	4300	6503	SO:0001583	missense	7037				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	g.chr3:195800987A>G	X01060	CCDS3312.1	3q29	2013-09-19	2013-09-19		ENSG00000072274	ENSG00000072274		"""CD molecules"""	11763	protein-coding gene	gene with protein product		190010	"""transferrin receptor (p90, CD71)"""				Standard	NM_003234		Approved	CD71, TFR1, p90	uc003fwa.4	P02786	OTTHUMG00000155714	ENST00000360110.4:c.248T>C	3.37:g.195800987A>G	ENSP00000353224:p.Ile83Thr					TFRC_ENST00000420415.1_Missense_Mutation_p.I2T|TFRC_ENST00000535031.1_Intron|TFRC_ENST00000392396.3_Missense_Mutation_p.I83T|TFRC_ENST00000540528.1_3'UTR	p.I83T	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)	4	417	-	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		83					D3DXB0|Q1HE24|Q59G55|Q9UCN0|Q9UCU5|Q9UDF9|Q9UK21	Missense_Mutation	SNP	ENST00000360110.4	37	c.248T>C	CCDS3312.1	.	.	.	.	.	.	.	.	.	.	A	13.62	2.290351	0.40494	.	.	ENSG00000072274	ENST00000360110;ENST00000420415;ENST00000392396	T;T;T	0.55052	0.54;0.67;0.54	5.35	4.17	0.49024	.	0.328436	0.33419	N	0.004927	T	0.48370	0.1496	M	0.71036	2.16	0.80722	D	1	B	0.29988	0.264	B	0.20577	0.03	T	0.48636	-0.9018	10	0.62326	D	0.03	-10.2726	9.5028	0.39028	0.8229:0.1771:0.0:0.0	.	83	P02786	TFR1_HUMAN	T	83;2;83	ENSP00000353224:I83T;ENSP00000390133:I2T;ENSP00000376197:I83T	ENSP00000353224:I83T	I	-	2	0	TFRC	197285384	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	3.518000	0.53451	0.834000	0.34852	0.482000	0.46254	ATT		0.423	TFRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341346.1			11	45	0	0	0	0.008291	0	11	45				
KRTAP12-2	353323	broad.mit.edu	37	21	46086744	46086744	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:46086744G>A	ENST00000360770.3	-	1	100	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	20	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						AGGCTGGCTGGCAGGGGCTGG	0.667																																						ENST00000360770.3																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(58-60)tgC>tgT		keratin associated protein 12-2							25.0	31.0	29.0					21																	46086744		2152	4250	6402	SO:0001819	synonymous_variant	353323					keratin filament		g.chr21:46086744G>A	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"""Keratin associated proteins"""	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.60C>T	21.37:g.46086744G>A						TSPEAR_ENST00000323084.4_Intron	p.C20C	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN			1	100	-			20			23 X 5 AA approximate repeats.		A6NIS1|A6NMS9|Q0VAS4	Silent	SNP	ENST00000360770.3	37	c.60C>T	CCDS42965.1																																																																																				0.667	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684		11	11	0	0	0	0.001855	0	11	11				
PTPRS	5802	broad.mit.edu	37	19	5218496	5218496	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:5218496G>A	ENST00000587303.1	-	24	4082	c.3983C>T	c.(3982-3984)gCc>gTc	p.A1328V	PTPRS_ENST00000262963.6_Missense_Mutation_p.A1324V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1306V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1306V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A897V|PTPRS_ENST00000357368.4_Missense_Mutation_p.A1328V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.A897V|PTPRS_ENST00000372412.4_Missense_Mutation_p.A1329V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1328					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGCGAGGTCGGCATTGTTCAG	0.527																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(3985-3987)gCc>gTc		protein tyrosine phosphatase, receptor type, S							241.0	212.0	222.0					19																	5218496		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5218496G>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3983C>T	19.37:g.5218496G>A	ENSP00000467537:p.Ala1328Val					PTPRS_ENST00000357368.4_Missense_Mutation_p.A1328V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1306V|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1306V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A897V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A897V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000587303.1_Missense_Mutation_p.A1328V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1324V	p.A1329V			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	25	4219	-			1328					O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3986C>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867332	0.72065	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.56776	0.59;0.58;0.56;0.44;0.53	4.3	4.3	0.51218	.	0.469026	0.18281	U	0.146037	T	0.67979	0.2951	L	0.52364	1.645	0.80722	D	1	P;P;D;B;D;D	0.89917	0.84;0.82;1.0;0.065;0.998;1.0	P;P;D;B;D;D	0.91635	0.709;0.535;0.999;0.059;0.968;0.997	T	0.70475	-0.4861	10	0.59425	D	0.04	.	16.9445	0.86227	0.0:0.0:1.0:0.0	.	910;897;901;1306;1328;923	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	V	923;1329;1328;1328;1319;1324;1306;910;901;897	ENSP00000361489:A1329V;ENSP00000349932:A1328V;ENSP00000262963:A1324V;ENSP00000269907:A1306V;ENSP00000327313:A897V	ENSP00000262963:A1324V	A	-	2	0	PTPRS	5169496	1.000000	0.71417	0.655000	0.29622	0.179000	0.23085	9.143000	0.94623	2.232000	0.73038	0.561000	0.74099	GCC		0.527	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			5	251	0	0	0	0.001168	0	5	251				
MALAT1	378938	broad.mit.edu	37	11	65265801	65265801	+	lincRNA	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:65265801C>T	ENST00000534336.1	+	0	569				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TCCGTGCGGGCCGTGGGGGGC	0.617																																						ENST00000534336.1																			0																				25.0	31.0	29.0					11																	65265801		873	1988	2861			0							g.chr11:65265801C>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65265801C>T						AP000769.7_ENST00000602344.1_lincRNA		NR_002819.2						0	569	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.617	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		13	12	0	0	0	0.003163	0	13	12				
SCN7A	6332	broad.mit.edu	37	2	167298214	167298214	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:167298214T>C	ENST00000409855.1	-	14	1975	c.1849A>G	c.(1849-1851)Atg>Gtg	p.M617V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	617					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AGAGACCACATCAAAATCTGG	0.383																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(1849-1851)Atg>Gtg		sodium channel, voltage-gated, type VII, alpha subunit							107.0	106.0	106.0					2																	167298214		2028	4231	6259	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167298214T>C	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.1849A>G	2.37:g.167298214T>C	ENSP00000386796:p.Met617Val						p.M617V	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			14	1975	-			617						Missense_Mutation	SNP	ENST00000409855.1	37	c.1849A>G	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	11.23	1.577310	0.28092	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992	D;D	0.97791	-4.54;-4.54	4.78	2.35	0.29111	Ion transport (1);	0.347158	0.28268	N	0.015970	D	0.92254	0.7543	N	0.12920	0.275	0.30241	N	0.795039	B	0.06786	0.001	B	0.08055	0.003	D	0.87504	0.2435	10	0.87932	D	0	.	6.2309	0.20734	0.0:0.087:0.1616:0.7515	.	617	Q01118	SCN7A_HUMAN	V	617	ENSP00000386796:M617V;ENSP00000413699:M617V	ENSP00000259060:M617V	M	-	1	0	SCN7A	167006460	0.995000	0.38212	0.045000	0.18777	0.011000	0.07611	2.167000	0.42415	0.403000	0.25479	0.477000	0.44152	ATG		0.383	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			16	36	0	0	0	0.004007	0	16	36				
SPCS2	9789	broad.mit.edu	37	11	74680630	74680630	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:74680630T>C	ENST00000263672.6	+	4	419	c.380T>C	c.(379-381)aTt>aCt	p.I127T	SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000526361.1_Intron|SPCS2_ENST00000530257.1_Intron|RNU6-216P_ENST00000363282.1_RNA	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	127					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			breast(1)	1						ATGATGGGGATTCTGACCATT	0.378																																						ENST00000263672.6																			0				breast(1)	1						c.(379-381)aTt>aCt		signal peptidase complex subunit 2 homolog (S. cerevisiae)							116.0	98.0	104.0					11																	74680630		1839	4077	5916	SO:0001583	missense	9789				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity	g.chr11:74680630T>C	D14658	CCDS44681.1	11q13.4	2008-02-05			ENSG00000118363	ENSG00000118363			28962	protein-coding gene	gene with protein product						7788527	Standard	NM_014752		Approved	KIAA0102	uc001ovu.2	Q15005	OTTHUMG00000165517	ENST00000263672.6:c.380T>C	11.37:g.74680630T>C	ENSP00000263672:p.Ile127Thr					SPCS2_ENST00000530257.1_Intron|SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000526361.1_Intron	p.I127T	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN			4	419	+			127					Q15507|Q3KQT0|Q641R4|Q6FG65|Q6IRX0|Q6P1P4|Q96HU9	Missense_Mutation	SNP	ENST00000263672.6	37	c.380T>C	CCDS44681.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182005	0.78677	.	.	ENSG00000118363	ENST00000263672;ENST00000532972;ENST00000526883	.	.	.	5.33	5.33	0.75918	.	0.896807	0.09766	N	0.758688	T	0.73148	0.3550	M	0.80422	2.495	0.80722	D	1	P	0.40970	0.734	P	0.46208	0.507	T	0.72456	-0.4288	9	0.72032	D	0.01	-21.2585	13.5556	0.61757	0.0:0.0:0.0:1.0	.	127	Q15005	SPCS2_HUMAN	T	127;158;131	.	ENSP00000263672:I127T	I	+	2	0	SPCS2	74358278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.971000	0.70440	2.141000	0.66446	0.528000	0.53228	ATT		0.378	SPCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384587.1	NM_014752		14	41	0	0	0	0.001855	0	14	41				
TPTE	7179	broad.mit.edu	37	21	10908895	10908895	+	Splice_Site	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:10908895T>C	ENST00000361285.4	-	23	1779	c.1450A>G	c.(1450-1452)Aat>Gat	p.N484D	TPTE_ENST00000298232.7_Splice_Site_p.N466D|TPTE_ENST00000342420.5_Splice_Site_p.N446D|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	484	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAGGAAGATTCTAAAAAGAA	0.254																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e22-1		transmembrane phosphatase with tensin homology							77.0	75.0	75.0					21																	10908895		2202	4295	6497	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10908895T>C	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1450-1A>G	21.37:g.10908895T>C						TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.N446_splice|TPTE_ENST00000361285.4_Splice_Site_p.N484_splice	p.N466_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	22	1763	-			484			C2 tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.1395_splice	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.743	-0.775511	0.02951	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.85088	-1.94;-1.94;-1.94	2.18	-0.746	0.11095	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.376195	0.26696	U	0.022979	T	0.75140	0.3809	L	0.47190	1.495	0.27551	N	0.950494	B;B;B	0.10296	0.002;0.002;0.003	B;B;B	0.18263	0.007;0.011;0.021	T	0.59841	-0.7378	10	0.29301	T	0.29	-0.4245	6.001	0.19521	0.0:0.3269:0.0:0.6731	.	446;466;484	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	D	466;484;446	ENSP00000298232:N466D;ENSP00000355208:N484D;ENSP00000344441:N446D	ENSP00000298232:N466D	N	-	1	0	TPTE	9930766	0.271000	0.24162	0.962000	0.40283	0.103000	0.19146	-0.281000	0.08456	-0.155000	0.11098	0.155000	0.16302	AAT		0.254	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Missense_Mutation	3	36	0	0	0	0.000602	0	3	36				
THSD7B	80731	broad.mit.edu	37	2	138320879	138320879	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:138320879T>A	ENST00000409968.1	+	16	3405	c.3227T>A	c.(3226-3228)cTg>cAg	p.L1076Q	THSD7B_ENST00000272643.3_Missense_Mutation_p.L1079Q|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.L1048Q			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1078	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACAATGAGCTGAGGTCCCTG	0.443																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(3226-3228)cTg>cAg		thrombospondin, type I, domain containing 7B							106.0	100.0	102.0					2																	138320879		1971	4153	6124	SO:0001583	missense	80731							g.chr2:138320879T>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3227T>A	2.37:g.138320879T>A	ENSP00000387145:p.Leu1076Gln					THSD7B_ENST00000272643.3_Missense_Mutation_p.L1079Q|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.L1048Q	p.L1076Q						BRCA - Breast invasive adenocarcinoma(221;0.19)	16	3405	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3227T>A		.	.	.	.	.	.	.	.	.	.	T	11.32	1.604347	0.28534	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.21932	2.49;2.37;1.98	5.41	4.25	0.50352	.	0.272156	0.36234	N	0.002718	T	0.07369	0.0186	N	0.03608	-0.345	0.80722	D	1	B	0.11235	0.004	B	0.16722	0.016	T	0.28202	-1.0051	10	0.13470	T	0.59	.	4.7863	0.13227	0.2864:0.0865:0.0:0.6271	.	1048	C9JKN6	.	Q	1076;1079;1048	ENSP00000387145:L1076Q;ENSP00000272643:L1079Q;ENSP00000413841:L1048Q	ENSP00000272643:L1079Q	L	+	2	0	THSD7B	138037349	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.208000	0.51114	2.190000	0.69967	0.477000	0.44152	CTG		0.443	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		4	33	0	0	0	0.009096	0	4	33				
POLR3A	11128	broad.mit.edu	37	10	79785906	79785906	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:79785906G>A	ENST00000372371.3	-	2	263	c.126C>T	c.(124-126)taC>taT	p.Y42Y		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	42					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TGTCCTGGCTGTACAGGTTCT	0.532																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(124-126)taC>taT		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							112.0	100.0	104.0					10																	79785906		2203	4300	6503	SO:0001819	synonymous_variant	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79785906G>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.126C>T	10.37:g.79785906G>A							p.Y42Y	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		2	263	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		42					Q8IW34|Q8TCW5	Silent	SNP	ENST00000372371.3	37	c.126C>T	CCDS7354.1																																																																																				0.532	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		3	53	0	0	0	0.004672	0	3	53				
WIPI2	26100	broad.mit.edu	37	7	5270498	5270498	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:5270498G>A	ENST00000288828.4	+	13	1517	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	WIPI2_ENST00000382384.2_Missense_Mutation_p.A400T|WIPI2_ENST00000401525.3_Missense_Mutation_p.A411T|WIPI2_ENST00000484262.1_Missense_Mutation_p.A359T|WIPI2_ENST00000404704.3_Missense_Mutation_p.A418T	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	429					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TGTGGGTGGCGCCTGCCTGGA	0.612																																						ENST00000288828.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16						c.(1285-1287)Gcc>Acc		WD repeat domain, phosphoinositide interacting 2							61.0	55.0	57.0					7																	5270498		2203	4300	6503	SO:0001583	missense	26100				autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr7:5270498G>A		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.1285G>A	7.37:g.5270498G>A	ENSP00000288828:p.Ala429Thr					WIPI2_ENST00000484262.1_Missense_Mutation_p.A359T|WIPI2_ENST00000382384.2_Missense_Mutation_p.A400T|WIPI2_ENST00000404704.3_Missense_Mutation_p.A418T|WIPI2_ENST00000401525.3_Missense_Mutation_p.A411T	p.A429T	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)	13	1517	+		Ovarian(82;0.0175)	429					B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	c.1285G>A	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.757023	0.31137	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.43688	1.24;1.25;1.25;1.26;0.94	5.78	-0.244	0.13031	.	0.109437	0.64402	N	0.000007	T	0.25901	0.0631	L	0.44542	1.39	0.24009	N	0.996185	B;B;B;B;B	0.33857	0.429;0.133;0.301;0.24;0.155	B;B;B;B;B	0.29440	0.039;0.026;0.102;0.102;0.047	T	0.10636	-1.0621	10	0.31617	T	0.26	-6.5803	5.3799	0.16186	0.3294:0.0:0.5466:0.124	.	412;400;411;418;429	E7EVF6;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;WIPI2_HUMAN	T	429;411;418;400;359;412	ENSP00000288828:A429T;ENSP00000384945:A411T;ENSP00000385297:A418T;ENSP00000371821:A400T;ENSP00000429654:A359T	ENSP00000288828:A429T	A	+	1	0	WIPI2	5237024	0.067000	0.21026	0.000000	0.03702	0.748000	0.42578	1.134000	0.31442	-0.351000	0.08249	-0.137000	0.14449	GCC		0.612	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		11	33	0	0	0	0.008291	0	11	33				
RPS6KA4	8986	broad.mit.edu	37	11	64137197	64137197	+	Silent	SNP	C	C	T	rs373556651	byFrequency	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:64137197C>T	ENST00000334205.4	+	14	1694	c.1629C>T	c.(1627-1629)ccC>ccT	p.P543P	RPS6KA4_ENST00000528057.1_Silent_p.P536P|MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000294261.4_Intron	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	543	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACGACACGCCCGGGGCCCCGG	0.721																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(1606-1608)ccC>ccT		ribosomal protein S6 kinase, 90kDa, polypeptide 4							19.0	30.0	26.0					11																	64137197		2196	4289	6485	SO:0001819	synonymous_variant	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64137197C>T	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1629C>T	11.37:g.64137197C>T						RPS6KA4_ENST00000334205.4_Silent_p.P543P|RPS6KA4_ENST00000294261.4_Intron	p.P536P	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			14	1696	+			543			Protein kinase 2.		A8K7Z8|O75585|Q53ES8	Silent	SNP	ENST00000334205.4	37	c.1608C>T	CCDS8073.1																																																																																				0.721	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		3	19	0	0	0	0.004672	0	3	19				
FILIP1	27145	broad.mit.edu	37	6	76124523	76124523	+	Missense_Mutation	SNP	T	T	C	rs200076124		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:76124523T>C	ENST00000237172.7	-	2	496	c.166A>G	c.(166-168)Aaa>Gaa	p.K56E	FILIP1_ENST00000393004.2_Missense_Mutation_p.K56E	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	56										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGGTGTCGTTTGACAGTTCCT	0.403																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(166-168)Aaa>Gaa		filamin A interacting protein 1		T	GLU/LYS	1,4405	2.1+/-5.4	0,1,2202	251.0	245.0	247.0		166	5.6	1.0	6		247	4,8596	3.7+/-12.6	0,4,4296	yes	missense	FILIP1	NM_015687.2	56	0,5,6498	CC,CT,TT		0.0465,0.0227,0.0384	benign	56/1214	76124523	5,13001	2203	4300	6503	SO:0001583	missense	27145							g.chr6:76124523T>C	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.166A>G	6.37:g.76124523T>C	ENSP00000237172:p.Lys56Glu					FILIP1_ENST00000237172.7_Missense_Mutation_p.K56E	p.K56E			Q7Z7B0	FLIP1_HUMAN			2	387	-			56					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.166A>G	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.540183	0.45176	2.27E-4	4.65E-4	ENSG00000118407	ENST00000393004;ENST00000237172	T;T	0.17854	2.25;2.25	5.55	5.55	0.83447	.	0.109696	0.64402	D	0.000008	T	0.04770	0.0129	L	0.34521	1.04	0.47245	D	0.999362	B;B;B	0.12013	0.002;0.003;0.005	B;B;B	0.08055	0.002;0.001;0.003	T	0.10520	-1.0626	10	0.02654	T	1	-26.8439	15.7041	0.77563	0.0:0.0:0.0:1.0	.	56;56;56	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	E	56	ENSP00000376728:K56E;ENSP00000237172:K56E	ENSP00000237172:K56E	K	-	1	0	FILIP1	76181243	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.902000	0.69869	2.099000	0.63709	0.528000	0.53228	AAA		0.403	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		104	138	0	0	0	0.014410	0	104	138				
SLC22A2	6582	broad.mit.edu	37	6	160679569	160679569	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:160679569G>A	ENST00000366953.3	-	1	479	c.221C>T	c.(220-222)aCg>aTg	p.T74M	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366952.1_Missense_Mutation_p.T53M	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	74					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	GCCCGGCACCGTGTAGTTCAG	0.672																																						ENST00000366952.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27						c.(157-159)aCg>aTg		solute carrier family 22 (organic cation transporter), member 2							52.0	56.0	55.0					6																	160679569		2203	4300	6503	SO:0001583	missense	6582				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	g.chr6:160679569G>A	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.221C>T	6.37:g.160679569G>A	ENSP00000355920:p.Thr74Met					SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Missense_Mutation_p.T74M	p.T53M			O15244	S22A2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	3	1639	-		Breast(66;0.000776)|Ovarian(120;0.0303)	74					Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	ENST00000366953.3	37	c.158C>T	CCDS5276.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.356644	0.82243	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	T;T	0.74209	-0.82;-0.79	5.22	5.22	0.72569	Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88793	0.6533	M	0.92738	3.34	0.52099	D	0.999942	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90678	0.4603	10	0.72032	D	0.01	.	18.9747	0.92731	0.0:0.0:1.0:0.0	.	74;74;74	O15244-3;O15244;O15244-2	.;S22A2_HUMAN;.	M	74;53	ENSP00000355920:T74M;ENSP00000355919:T53M	ENSP00000355919:T53M	T	-	2	0	SLC22A2	160599559	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	6.874000	0.75546	2.701000	0.92244	0.557000	0.71058	ACG		0.672	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042943.1	NM_003058		8	44	0	0	0	0.003080	0	8	44				
COL3A1	1281	broad.mit.edu	37	2	189867065	189867065	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:189867065C>T	ENST00000304636.3	+	35	2603	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	COL3A1_ENST00000317840.5_Silent_p.F811F	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	811	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	CTGCTGGTTTCCCTGGTGCTC	0.438																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(2431-2433)ttC>ttT		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						124.0	117.0	120.0					2																	189867065		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189867065C>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2433C>T	2.37:g.189867065C>T						COL3A1_ENST00000317840.5_Silent_p.F811F	p.F811F	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		35	2603	+			811			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.2433C>T	CCDS2297.1																																																																																				0.438	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		4	39	0	0	0	0.000602	0	4	39				
SERPINB7	8710	broad.mit.edu	37	18	61465877	61465877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr18:61465877C>A	ENST00000398019.2	+	6	819	c.494C>A	c.(493-495)tCa>tAa	p.S165*	SERPINB7_ENST00000540675.1_Nonsense_Mutation_p.S148*|SERPINB7_ENST00000336429.2_Nonsense_Mutation_p.S165*|SERPINB7_ENST00000546027.1_Nonsense_Mutation_p.S165*	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	165					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGCATAAGCTCATCTGCTGTA	0.353																																						ENST00000398019.2																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27						c.(493-495)tCa>tAa		serpin peptidase inhibitor, clade B (ovalbumin), member 7							173.0	146.0	155.0					18																	61465877		2203	4300	6503	SO:0001587	stop_gained	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61465877C>A	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.494C>A	18.37:g.61465877C>A	ENSP00000381101:p.Ser165*					SERPINB7_ENST00000546027.1_Nonsense_Mutation_p.S165*|SERPINB7_ENST00000336429.2_Nonsense_Mutation_p.S165*|SERPINB7_ENST00000540675.1_Nonsense_Mutation_p.S148*	p.S165*	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN			6	819	+		Esophageal squamous(42;0.129)	165					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Nonsense_Mutation	SNP	ENST00000398019.2	37	c.494C>A	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297773	0.95574	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	.	.	.	5.68	5.68	0.88126	.	0.179783	0.31884	N	0.006903	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7234	0.69326	0.0:0.8556:0.1444:0.0	.	.	.	.	X	165;165;148;165	.	ENSP00000337212:S165X	S	+	2	0	SERPINB7	59616857	0.000000	0.05858	0.592000	0.28758	0.387000	0.30353	0.741000	0.26202	2.843000	0.97960	0.650000	0.86243	TCA		0.353	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784		6	86	1	0	8.12818e-05	0.001984	8.60631e-05	6	86				
ZNF292	23036	broad.mit.edu	37	6	87966561	87966561	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:87966561G>C	ENST00000369577.3	+	8	3257	c.3214G>C	c.(3214-3216)Gca>Cca	p.A1072P	ZNF292_ENST00000339907.4_Missense_Mutation_p.A1067P	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1072						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGAAAGTATTGCATTTGTTCC	0.373																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(3214-3216)Gca>Cca		zinc finger protein 292							97.0	96.0	96.0					6																	87966561		1858	4085	5943	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966561G>C	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.3214G>C	6.37:g.87966561G>C	ENSP00000358590:p.Ala1072Pro					ZNF292_ENST00000339907.4_Missense_Mutation_p.A1067P	p.A1072P	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	3257	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1072					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.3214G>C	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	9.254	1.041402	0.19669	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.08458	3.09;3.1	5.55	-3.17	0.05202	.	0.671285	0.14523	N	0.314349	T	0.01254	0.0041	N	0.22421	0.69	0.30042	N	0.81256	B	0.24721	0.11	B	0.24974	0.057	T	0.47156	-0.9139	10	0.25106	T	0.35	.	4.0424	0.09758	0.3651:0.1139:0.4102:0.1107	.	1072	O60281	ZN292_HUMAN	P	1072;1067	ENSP00000358590:A1072P;ENSP00000342847:A1067P	ENSP00000342847:A1067P	A	+	1	0	ZNF292	88023280	0.128000	0.22383	0.918000	0.36340	0.290000	0.27261	-0.227000	0.09126	-0.432000	0.07297	-0.469000	0.05056	GCA		0.373	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		6	76	0	0	0	0.001984	0	6	76				
UBN1	29855	broad.mit.edu	37	16	4927426	4927426	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:4927426G>A	ENST00000396658.4	+	16	4009	c.3306G>A	c.(3304-3306)gcG>gcA	p.A1102A	UBN1_ENST00000262376.6_Silent_p.A1102A|UBN1_ENST00000545171.1_Intron|UBN1_ENST00000590769.1_Intron	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1102					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCCATGCAGCGCCTCTCCCAC	0.592																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3304-3306)gcG>gcA		ubinuclein 1							149.0	156.0	154.0					16																	4927426		2197	4300	6497	SO:0001819	synonymous_variant	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4927426G>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.3306G>A	16.37:g.4927426G>A						UBN1_ENST00000262376.6_Silent_p.A1102A|UBN1_ENST00000590769.1_Intron|UBN1_ENST00000545171.1_Intron	p.A1102A	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			16	4009	+			1102					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	c.3306G>A	CCDS10525.1																																																																																				0.592	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		10	214	0	0	0	0.001855	0	10	214				
NTNG1	22854	broad.mit.edu	37	1	107973470	107973470	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:107973470T>C	ENST00000370068.1	+	6	2032	c.1186T>C	c.(1186-1188)Tgt>Cgt	p.C396R	NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.C396R|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370073.2_Missense_Mutation_p.C396R|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370072.3_Missense_Mutation_p.C396R|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370065.1_Missense_Mutation_p.C396R			Q9Y2I2	NTNG1_HUMAN	netrin G1	396	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGGGCAGCACTGTGAGTTATG	0.443																																						ENST00000370068.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37						c.(1186-1188)Tgt>Cgt		netrin G1							123.0	108.0	113.0					1																	107973470		1568	3582	5150	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107973470T>C	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1186T>C	1.37:g.107973470T>C	ENSP00000359085:p.Cys396Arg					NTNG1_ENST00000542803.1_Missense_Mutation_p.C396R|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000370065.1_Missense_Mutation_p.C396R|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370071.2_Intron|NTNG1_ENST00000370072.3_Missense_Mutation_p.C396R|NTNG1_ENST00000370073.2_Missense_Mutation_p.C396R|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370066.1_Intron	p.C396R			Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	6	2032	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	396			Laminin EGF-like 2.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.1186T>C	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.972184	0.74246	.	.	ENSG00000162631	ENST00000370073;ENST00000542803;ENST00000370072;ENST00000370064;ENST00000370068;ENST00000370065	D;D;D;D;D	0.97811	-4.55;-4.55;-3.97;-4.55;-3.97	5.36	5.36	0.76844	EGF-like, laminin (4);	0.000000	0.64402	D	0.000004	D	0.98544	0.9514	H	0.98769	4.325	0.80722	D	1	P	0.45176	0.852	P	0.45099	0.469	D	0.99585	1.0974	10	0.87932	D	0	.	15.3531	0.74405	0.0:0.0:0.0:1.0	.	396	Q9Y2I2	NTNG1_HUMAN	R	396;396;396;199;396;396	ENSP00000359090:C396R;ENSP00000440561:C396R;ENSP00000359089:C396R;ENSP00000359085:C396R;ENSP00000359082:C396R	ENSP00000359081:C199R	C	+	1	0	NTNG1	107774993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.033000	0.88852	2.033000	0.60031	0.533000	0.62120	TGT		0.443	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		3	33	0	0	0	0.004672	0	3	33				
TNRC6A	27327	broad.mit.edu	37	16	24802267	24802267	+	Silent	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:24802267T>C	ENST00000395799.3	+	6	2433	c.2304T>C	c.(2302-2304)gaT>gaC	p.D768D	TNRC6A_ENST00000315183.7_Silent_p.D768D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	768	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CATGTATAGATAAGACTAGCC	0.498																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(2302-2304)gaT>gaC		trinucleotide repeat containing 6A							45.0	49.0	48.0					16																	24802267		2196	4300	6496	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24802267T>C	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2304T>C	16.37:g.24802267T>C						TNRC6A_ENST00000315183.7_Silent_p.D768D	p.D768D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	2433	+			768			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.2304T>C	CCDS10624.2																																																																																				0.498	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		10	34	0	0	0	0.013537	0	10	34				
TMEM150B	284417	broad.mit.edu	37	19	55828207	55828207	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:55828207A>G	ENST00000326652.4	-	7	634	c.452T>C	c.(451-453)aTt>aCt	p.I151T	TMEM150B_ENST00000438693.1_Missense_Mutation_p.I151T	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	151						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3						GAGGGGCCCAATCCAGGCAGC	0.627																																						ENST00000326652.4																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(451-453)aTt>aCt		transmembrane protein 150B							17.0	20.0	19.0					19																	55828207		1944	4121	6065	SO:0001583	missense	284417					integral to membrane		g.chr19:55828207A>G	BC020862	CCDS42629.1	19q13.42	2009-06-12	2009-06-12	2009-06-12		ENSG00000180061			34415	protein-coding gene	gene with protein product			"""transmembrane protein 224"""	TMEM224			Standard	XM_005258812		Approved		uc010esw.1	A6NC51		ENST00000326652.4:c.452T>C	19.37:g.55828207A>G	ENSP00000320757:p.Ile151Thr					TMEM150B_ENST00000438693.1_Missense_Mutation_p.I151T	p.I151T			A6NC51	T150B_HUMAN			7	634	-			151					B7ZW71	Missense_Mutation	SNP	ENST00000326652.4	37	c.452T>C	CCDS42629.1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.009362	0.35415	.	.	ENSG00000180061	ENST00000326652;ENST00000438693	T;T	0.44881	0.91;0.91	4.77	4.77	0.60923	.	0.402562	0.25035	N	0.033652	T	0.42154	0.1190	L	0.42744	1.35	0.34832	D	0.739785	P	0.46064	0.872	P	0.48598	0.583	T	0.54337	-0.8309	10	0.35671	T	0.21	-6.9913	10.9851	0.47518	1.0:0.0:0.0:0.0	.	151	A6NC51	T150B_HUMAN	T	151	ENSP00000320757:I151T;ENSP00000412658:I151T	ENSP00000320757:I151T	I	-	2	0	TMEM150B	60520019	0.242000	0.23868	0.268000	0.24571	0.004000	0.04260	3.473000	0.53122	1.930000	0.55929	0.459000	0.35465	ATT		0.627	TMEM150B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452685.1	NM_001085488		2	2	0	0	0	0.004672	0	2	2				
A1BG	1	broad.mit.edu	37	19	58863737	58863737	+	Silent	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:58863737A>G	ENST00000263100.3	-	4	586	c.525T>C	c.(523-525)caT>caC	p.H175H	CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	175	Ig-like V-type 2.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TGCCAGGCTGATGGACTGGAA	0.622																																						ENST00000263100.3																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15						c.(523-525)caT>caC		alpha-1-B glycoprotein							121.0	111.0	115.0					19																	58863737		2203	4300	6503	SO:0001819	synonymous_variant	1					extracellular region		g.chr19:58863737A>G		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.525T>C	19.37:g.58863737A>G						A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA	p.H175H	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	4	586	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	175			Ig-like V-type 2.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Silent	SNP	ENST00000263100.3	37	c.525T>C	CCDS12976.1																																																																																				0.622	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		3	95	0	0	0	0.009096	0	3	95				
NLRP14	338323	broad.mit.edu	37	11	7061017	7061017	+	Splice_Site	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:7061017G>A	ENST00000299481.4	+	3	707		c.e3+1			NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAGTGCTGGGTGAGTAGTTA	0.468																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.e3+1		NLR family, pyrin domain containing 14							181.0	179.0	180.0					11																	7061017		2201	4296	6497	SO:0001630	splice_region_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7061017G>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.361+1G>A	11.37:g.7061017G>A								NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	3	707	+								Q7RTR6	Splice_Site	SNP	ENST00000299481.4	37		CCDS7776.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729627	0.48833	.	.	ENSG00000158077	ENST00000299481	.	.	.	3.6	2.67	0.31697	.	.	.	.	.	.	.	.	.	.	.	0.37078	D	0.898857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2569	0.37588	0.0:0.2192:0.7808:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP14	7017593	0.960000	0.32886	0.112000	0.21494	0.629000	0.37895	0.951000	0.29135	1.074000	0.40909	0.650000	0.86243	.		0.468	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822	Intron	5	114	0	0	0	0.000602	0	5	114				
TMEM63B	55362	broad.mit.edu	37	6	44116117	44116117	+	Silent	SNP	C	C	T	rs368199758		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:44116117C>T	ENST00000259746.9	+	13	1299	c.1116C>T	c.(1114-1116)acC>acT	p.T372T	TMEM63B_ENST00000323267.6_Silent_p.T372T			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	372					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AGACTATCACCGCCATGTGAG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		21040	0.0		0.001	False		,,,				2504	0.0					ENST00000259746.9																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35						c.(1114-1116)acC>acT		transmembrane protein 63B		C		0,4406		0,0,2203	113.0	101.0	105.0		1116	0.5	1.0	6		105	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM63B	NM_018426.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		372/833	44116117	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44116117C>T	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1116C>T	6.37:g.44116117C>T						TMEM63B_ENST00000323267.6_Silent_p.T372T	p.T372T			Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		13	1299	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		372					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Silent	SNP	ENST00000259746.9	37	c.1116C>T	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	C	9.970	1.225211	0.22457	0.0	1.16E-4	ENSG00000137216	ENST00000371893	.	.	.	4.61	0.49	0.16861	.	.	.	.	.	T	0.28466	0.0704	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.15549	-1.0433	4	.	.	.	.	3.7043	0.08394	0.2815:0.4051:0.2352:0.0782	.	.	.	.	L	301	.	.	P	+	2	0	TMEM63B	44224095	0.000000	0.05858	0.998000	0.56505	0.984000	0.73092	-2.586000	0.00902	-0.021000	0.14009	0.563000	0.77884	CCG		0.592	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410		6	83	0	0	0	0.001984	0	6	83				
RAB38	23682	broad.mit.edu	37	11	87883114	87883114	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:87883114C>A	ENST00000243662.6	-	2	294	c.212G>T	c.(211-213)aGa>aTa	p.R71I		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	71					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTTTCCAAATCTTTCTTGACC	0.383																																						ENST00000243662.6																			0				large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(211-213)aGa>aTa		RAB38, member RAS oncogene family							161.0	174.0	169.0					11																	87883114		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87883114C>A	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.212G>T	11.37:g.87883114C>A	ENSP00000243662:p.Arg71Ile						p.R71I	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN			2	294	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	71					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.212G>T	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.930274|4.930274	0.92389|0.92389	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000526372|ENST00000243662	.|T	.|0.79247	.|-1.25	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Small GTP-binding protein domain (1);	.|0.047164	.|0.85682	.|D	.|0.000000	D|D	0.89846|0.89846	0.6833|0.6833	M|M	0.86420|0.86420	2.815|2.815	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.90824|0.90824	0.4711|0.4711	5|9	.|.	.|.	.|.	-2.988|-2.988	18.7836|18.7836	0.91944|0.91944	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|71	.|P57729	.|RAB38_HUMAN	N|I	69|71	.|ENSP00000243662:R71I	.|.	K|R	-|-	3|2	2|0	RAB38|RAB38	87522762|87522762	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.395000|7.395000	0.79876|0.79876	2.446000|2.446000	0.82766|0.82766	0.591000|0.591000	0.81541|0.81541	AAG|AGA		0.383	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			19	275	1	0	5.35267e-07	0.007413	5.94741e-07	19	275				
ANKRD11	29123	broad.mit.edu	37	16	89348536	89348536	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:89348536C>T	ENST00000301030.4	-	9	4874	c.4414G>A	c.(4414-4416)Gag>Aag	p.E1472K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E1472K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1472	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ctctccttctcgtctctccat	0.532																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(4414-4416)Gag>Aag		ankyrin repeat domain 11							103.0	62.0	76.0					16																	89348536		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348536C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4414G>A	16.37:g.89348536C>T	ENSP00000301030:p.Glu1472Lys					ANKRD11_ENST00000378330.2_Missense_Mutation_p.E1472K	p.E1472K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4874	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1472			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4414G>A	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	9.813	1.183676	0.21870	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.38887	1.11;1.11	4.89	4.89	0.63831	.	0.127805	0.52532	D	0.000069	T	0.35068	0.0919	M	0.62723	1.935	0.80722	D	1	P	0.47302	0.893	B	0.35312	0.2	T	0.33214	-0.9877	10	0.09338	T	0.73	.	16.1886	0.81971	0.0:1.0:0.0:0.0	.	1472	Q6UB99	ANR11_HUMAN	K	1472	ENSP00000301030:E1472K;ENSP00000367581:E1472K	ENSP00000301030:E1472K	E	-	1	0	ANKRD11	87876037	1.000000	0.71417	0.051000	0.19133	0.089000	0.18198	5.129000	0.64739	2.411000	0.81874	0.563000	0.77884	GAG		0.532	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		10	31	0	0	0	0.006214	0	10	31				
OR5L1	219437	broad.mit.edu	37	11	55579456	55579456	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:55579456A>G	ENST00000333973.2	+	1	603	c.514A>G	c.(514-516)Aat>Gat	p.N172D		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTATAGATCTAATGTGATTAA	0.458																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(514-516)Aat>Gat		olfactory receptor, family 5, subfamily L, member 1							226.0	208.0	214.0					11																	55579456		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579456A>G	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.514A>G	11.37:g.55579456A>G	ENSP00000335529:p.Asn172Asp						p.N172D	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	603	+		all_epithelial(135;0.208)	172					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.514A>G	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	a	15.26	2.779850	0.49891	.	.	ENSG00000186117	ENST00000333973	T	0.00241	8.46	4.12	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.109140	0.41001	N	0.000980	T	0.00271	0.0008	M	0.84511	2.7	0.09310	N	1	B	0.23540	0.087	B	0.33799	0.17	T	0.47275	-0.9130	10	0.72032	D	0.01	-31.0195	1.7344	0.02938	0.5676:0.1697:0.0979:0.1647	.	172	Q8NGL2	OR5L1_HUMAN	D	172	ENSP00000335529:N172D	ENSP00000335529:N172D	N	+	1	0	OR5L1	55336032	0.000000	0.05858	0.003000	0.11579	0.594000	0.36715	0.866000	0.27954	0.474000	0.27392	0.352000	0.21897	AAT		0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		5	219	0	0	0	0.001168	0	5	219				
GPRC5A	9052	broad.mit.edu	37	12	13061477	13061477	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr12:13061477C>T	ENST00000014914.5	+	2	1184	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	98					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CCACACGCTTCTTCCTCTTTG	0.577																																						ENST00000014914.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(292-294)ttC>ttT		G protein-coupled receptor, family C, group 5, member A	Tretinoin(DB00755)						164.0	156.0	159.0					12																	13061477		2203	4300	6503	SO:0001819	synonymous_variant	0					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity	g.chr12:13061477C>T	AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.294C>T	12.37:g.13061477C>T						GPRC5A_ENST00000542056.1_Intron	p.F98F	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0708)	2	1184	+		Prostate(47;0.141)	98					B3KV45|O95357	Silent	SNP	ENST00000014914.5	37	c.294C>T	CCDS8657.1																																																																																				0.577	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400682.1			4	191	0	0	0	0.009096	0	4	191				
ALX1	8092	broad.mit.edu	37	12	85677644	85677644	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr12:85677644C>T	ENST00000316824.3	+	2	676	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	174					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CTCACTGAGGCCAGGGTCCAG	0.443																																						ENST00000316824.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26						c.(520-522)gCc>gTc		ALX homeobox 1							73.0	80.0	77.0					12																	85677644		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85677644C>T	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.521C>T	12.37:g.85677644C>T	ENSP00000315417:p.Ala174Val						p.A174V	NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	2	676	+			174					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.521C>T	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038458	0.93630	.	.	ENSG00000180318	ENST00000316824	D	0.96491	-4.03	5.93	5.93	0.95920	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	M	0.68728	2.09	0.80722	D	1	P	0.50272	0.933	P	0.58391	0.838	D	0.96432	0.9320	10	0.37606	T	0.19	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	174	Q15699	ALX1_HUMAN	V	174	ENSP00000315417:A174V	ENSP00000315417:A174V	A	+	2	0	ALX1	84201775	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.805000	0.96524	0.655000	0.94253	GCC		0.443	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		18	82	0	0	0	0.004990	0	18	82				
ZNF280A	129025	broad.mit.edu	37	22	22869695	22869695	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr22:22869695G>A	ENST00000302097.3	-	2	512	c.260C>T	c.(259-261)tCg>tTg	p.S87L	snoU13_ENST00000459485.1_RNA	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGCAGGCTGCGACACGTGAGC	0.468																																						ENST00000302097.3																			0				endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18						c.(259-261)tCg>tTg		zinc finger protein 280A							203.0	167.0	179.0					22																	22869695		2203	4300	6503	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22869695G>A	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.260C>T	22.37:g.22869695G>A	ENSP00000302855:p.Ser87Leu						p.S87L	NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	512	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	87						Missense_Mutation	SNP	ENST00000302097.3	37	c.260C>T	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.149631	0.00328	.	.	ENSG00000169548	ENST00000302097	T	0.36340	1.26	3.8	-7.59	0.01308	.	.	.	.	.	T	0.11367	0.0277	N	0.03324	-0.35	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.10800	-1.0614	9	0.17832	T	0.49	1.8036	4.54	0.12052	0.1277:0.2566:0.5314:0.0843	.	87	P59817	Z280A_HUMAN	L	87	ENSP00000302855:S87L	ENSP00000302855:S87L	S	-	2	0	ZNF280A	21199695	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.613000	0.05610	-3.985000	0.00084	-3.816000	0.00019	TCG		0.468	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740		21	90	0	0	0	0.002780	0	21	90				
ANKRD30A	91074	broad.mit.edu	37	10	37508692	37508692	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:37508692C>A	ENST00000602533.1	+	34	3983	c.3884C>A	c.(3883-3885)aCa>aAa	p.T1295K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T1295K|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T1414K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1351					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGCAAGATAACAATTGATATT	0.294																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(4240-4242)aCa>aAa		ankyrin repeat domain 30A							42.0	40.0	41.0					10																	37508692		1833	4084	5917	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508692C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3884C>A	10.37:g.37508692C>A	ENSP00000473551:p.Thr1295Lys					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T1295K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T1295K	p.T1414K			Q9BXX3	AN30A_HUMAN			40	4340	+			1351					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.4241C>A		.	.	.	.	.	.	.	.	.	.	c	7.223	0.597728	0.13875	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.14266	2.52;2.52	2.76	-1.35	0.09114	.	.	.	.	.	T	0.10766	0.0263	L	0.48642	1.525	0.09310	N	1	P	0.35139	0.486	B	0.31191	0.125	T	0.19943	-1.0290	9	0.59425	D	0.04	.	7.4886	0.27447	0.0:0.2672:0.0:0.7328	.	1351	Q9BXX3	AN30A_HUMAN	K	1295;1414	ENSP00000354432:T1295K;ENSP00000363792:T1414K	ENSP00000354432:T1295K	T	+	2	0	ANKRD30A	37548698	0.878000	0.30173	0.000000	0.03702	0.001000	0.01503	1.619000	0.36965	-0.170000	0.10816	-1.287000	0.01368	ACA		0.294	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		9	24	1	0	2.17888e-05	0.006214	2.39145e-05	9	24				
DNAH9	1770	broad.mit.edu	37	17	11827172	11827172	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:11827172A>G	ENST00000262442.4	+	62	11859	c.11791A>G	c.(11791-11793)Aac>Gac	p.N3931D	DNAH9_ENST00000454412.2_Missense_Mutation_p.N3931D|DNAH9_ENST00000608377.1_Missense_Mutation_p.N243D|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3931	AAA 6. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACTTTCACAACGTGTCTTT	0.458																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(11791-11793)Aac>Gac		dynein, axonemal, heavy chain 9							155.0	127.0	136.0					17																	11827172		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11827172A>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.11791A>G	17.37:g.11827172A>G	ENSP00000262442:p.Asn3931Asp					DNAH9_ENST00000396001.2_Missense_Mutation_p.N243D|DNAH9_ENST00000454412.2_Missense_Mutation_p.N3931D	p.N3931D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	62	11859	+		Breast(5;0.0122)|all_epithelial(5;0.131)	3931			AAA 6 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.11791A>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.960316	0.92791	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001;ENST00000361801	T;T;T	0.09255	3.0;3.0;3.0	4.98	4.98	0.66077	Dynein heavy chain (1);	0.198002	0.32106	N	0.006574	T	0.38268	0.1034	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.75484	0.981;0.986	T	0.42172	-0.9467	10	0.72032	D	0.01	.	14.8283	0.70130	1.0:0.0:0.0:0.0	.	284;3931	B7Z7H0;Q9NYC9	.;DYH9_HUMAN	D	3931;3931;2513;243;284	ENSP00000262442:N3931D;ENSP00000414874:N3931D;ENSP00000379323:N243D	ENSP00000262442:N3931D	N	+	1	0	DNAH9	11767897	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.066000	0.93949	2.093000	0.63338	0.459000	0.35465	AAC		0.458	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		11	53	0	0	0	0.008291	0	11	53				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			3	24	0	0	0	0.009096	0	3	24				
PPARG	5468	broad.mit.edu	37	3	12458613	12458613	+	Silent	SNP	C	C	T	rs148844673		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:12458613C>T	ENST00000287820.6	+	6	1351	c.1230C>T	c.(1228-1230)agC>agT	p.S410S	PPARG_ENST00000397026.2_Silent_p.S388S|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000309576.6_Silent_p.S382S|PPARG_ENST00000397010.2_Silent_p.S382S|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397012.2_Silent_p.S382S|PPARG_ENST00000397015.2_Silent_p.S382S	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	410	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	TAGATGACAGCGACTTGGCAA	0.428			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						C|||	1	0.000199681	0.0	0.0	5008	,	,		19965	0.0		0.0	False		,,,				2504	0.001					ENST00000397026.2				Dom	yes		3	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""	E	PAX8		follicular thyroid	PAX8/PPARG(117)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(1162-1164)agC>agT		peroxisome proliferator-activated receptor gamma	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						39.0	40.0	40.0					3																	12458613		2203	4300	6503	SO:0001819	synonymous_variant	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12458613C>T	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1230C>T	3.37:g.12458613C>T						PPARG_ENST00000397015.2_Silent_p.S382S|PPARG_ENST00000397010.2_Silent_p.S382S|PPARG_ENST00000287820.6_Silent_p.S410S|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397012.2_Silent_p.S382S|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000309576.6_Silent_p.S382S	p.S388S			P37231	PPARG_HUMAN			8	1547	+			410		F -> L (in FPLD3).	Ligand-binding.		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Silent	SNP	ENST00000287820.6	37	c.1164C>T	CCDS2609.1																																																																																				0.428	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		7	44	0	0	0	0.001984	0	7	44				
ZDHHC4	55146	broad.mit.edu	37	7	6624735	6624735	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:6624735C>T	ENST00000396706.2	+	7	1028	c.585C>T	c.(583-585)ctC>ctT	p.L195L	ZDHHC4_ENST00000405731.3_Silent_p.L195L|ZDHHC4_ENST00000396709.1_Silent_p.L195L|ZDHHC4_ENST00000396707.2_Silent_p.L195L|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000335965.6_Silent_p.L195L|ZDHHC4_ENST00000396713.2_Silent_p.L195L			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	195						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GGTACTTCCTCATCTACGTCT	0.527																																						ENST00000396706.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(583-585)ctC>ctT		zinc finger, DHHC-type containing 4							204.0	132.0	156.0					7																	6624735		2203	4300	6503	SO:0001819	synonymous_variant	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6624735C>T	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.585C>T	7.37:g.6624735C>T						ZDHHC4_ENST00000396707.2_Silent_p.L195L|ZDHHC4_ENST00000405731.3_Silent_p.L195L|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Silent_p.L195L|ZDHHC4_ENST00000396709.1_Silent_p.L195L|ZDHHC4_ENST00000335965.6_Silent_p.L195L	p.L195L			Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	7	1028	+		Ovarian(82;0.232)	195					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Silent	SNP	ENST00000396706.2	37	c.585C>T	CCDS5352.1																																																																																				0.527	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		3	42	0	0	0	0.004672	0	3	42				
NEU2	4759	broad.mit.edu	37	2	233899633	233899633	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:233899633C>A	ENST00000233840.3	+	2	1009	c.1009C>A	c.(1009-1011)Ctc>Atc	p.L337I		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	337					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	Oseltamivir(DB00198)|Zanamivir(DB00558)	CTACTCAGACCTCCAGAGCAT	0.607																																						ENST00000233840.3																			0				endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18						c.(1009-1011)Ctc>Atc		sialidase 2 (cytosolic sialidase)							105.0	114.0	111.0					2																	233899633		2203	4300	6503	SO:0001583	missense	4759						exo-alpha-sialidase activity	g.chr2:233899633C>A	Y16535	CCDS2501.1	2q37	2008-05-27			ENSG00000115488	ENSG00000115488			7759	protein-coding gene	gene with protein product	"""N-acetyl-alpha-neuraminidase 2"""	605528				10191093, 14613940	Standard	NM_005383		Approved	SIAL2	uc010zmn.2	Q9Y3R4	OTTHUMG00000133274	ENST00000233840.3:c.1009C>A	2.37:g.233899633C>A	ENSP00000233840:p.Leu337Ile						p.L337I	NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)	2	1009	+		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)	337					Q3KNW4|Q6NTB4	Missense_Mutation	SNP	ENST00000233840.3	37	c.1009C>A	CCDS2501.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683415	0.68157	.	.	ENSG00000115488	ENST00000233840	D	0.87887	-2.31	4.94	3.1	0.35709	Neuraminidase (2);	0.000000	0.52532	D	0.000079	D	0.92107	0.7498	M	0.85710	2.77	0.40767	D	0.983058	D	0.61080	0.989	D	0.73708	0.981	D	0.89488	0.3755	10	0.32370	T	0.25	-27.1085	8.2369	0.31631	0.1562:0.76:0.0:0.0838	.	337	Q9Y3R4	NEUR2_HUMAN	I	337	ENSP00000233840:L337I	ENSP00000233840:L337I	L	+	1	0	NEU2	233607877	1.000000	0.71417	0.828000	0.32881	0.689000	0.40095	2.464000	0.45067	0.456000	0.26937	0.655000	0.94253	CTC		0.607	NEU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257053.2	NM_005383		18	128	1	0	5.01169e-05	0.004990	5.36967e-05	18	128				
RP1	6101	broad.mit.edu	37	8	55541622	55541622	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr8:55541622A>G	ENST00000220676.1	+	4	5328	c.5180A>G	c.(5179-5181)gAt>gGt	p.D1727G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1727					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAACAAAATGATGATAGCAGA	0.393																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5179-5181)gAt>gGt		retinitis pigmentosa 1 (autosomal dominant)							126.0	122.0	123.0					8																	55541622		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541622A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5180A>G	8.37:g.55541622A>G	ENSP00000220676:p.Asp1727Gly						p.D1727G	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5328	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1727						Missense_Mutation	SNP	ENST00000220676.1	37	c.5180A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	4.511	0.094819	0.08681	.	.	ENSG00000104237	ENST00000220676	T	0.21543	2.0	5.93	0.824	0.18818	.	0.703453	0.12849	N	0.434153	T	0.19406	0.0466	L	0.57536	1.79	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.23332	-1.0191	10	0.66056	D	0.02	-1.471	6.4187	0.21732	0.6142:0.1226:0.2632:0.0	.	1727	P56715	RP1_HUMAN	G	1727	ENSP00000220676:D1727G	ENSP00000220676:D1727G	D	+	2	0	RP1	55704175	.	.	0.000000	0.03702	0.131000	0.20780	.	.	0.122000	0.18314	0.533000	0.62120	GAT		0.393	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		6	72	0	0	0	0.001168	0	6	72				
COBL	23242	broad.mit.edu	37	7	51287614	51287614	+	Silent	SNP	T	T	G	rs145775268		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:51287614T>G	ENST00000265136.7	-	2	234	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_ENST00000395542.2_Silent_p.P23P|COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000441453.1_Silent_p.P23P	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	23	Poly-Pro.				actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000395542.2																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(67-69)ccA>ccC		cordon-bleu WH2 repeat protein							20.0	22.0	21.0					7																	51287614		2174	4248	6422	SO:0001819	synonymous_variant	23242							g.chr7:51287614T>G	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.69A>C	7.37:g.51287614T>G						COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000441453.1_Silent_p.P23P|COBL_ENST00000265136.7_Silent_p.P23P	p.P23P			O75128	COBL_HUMAN			2	253	-	Glioma(55;0.08)		23			Poly-Pro.		A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Silent	SNP	ENST00000265136.7	37	c.69A>C	CCDS34637.1																																																																																				0.552	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		4	36	0	0	0	0.000602	0	4	36				
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	lincRNA	SNP	G	G	A	rs62287990	byFrequency	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:195395399G>A	ENST00000445430.1	+	0	806									long intergenic non-protein coding RNA 969																		GGCTACGGGCGCACCTACTTG	0.607																																						ENST00000445430.1																			0																																																			0							g.chr3:195395399G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395399G>A														0	806	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.607	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	33	0	0	0	0.001168	0	5	33				
TOR1AIP2	163590	broad.mit.edu	37	1	179815253	179815253	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:179815253G>A	ENST00000367612.3	-	6	1753	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.P456S	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	0										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GGCTGGACTGGCAGTACCAGG	0.463																																						ENST00000367612.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						c.(1366-1368)Cca>Tca		torsin A interacting protein 2							95.0	96.0	96.0					1																	179815253		2203	4300	6503	SO:0001583	missense	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179815253G>A		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.1366C>T	1.37:g.179815253G>A	ENSP00000356584:p.Pro456Ser						p.P456S	NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN			6	1753	-			456					Q05BU2	Missense_Mutation	SNP	ENST00000367612.3	37	c.1366C>T	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712383	0.89112	.	.	ENSG00000169905	ENST00000367612	T	0.41758	0.99	5.91	5.91	0.95273	.	0.058618	0.64402	D	0.000001	T	0.69726	0.3143	M	0.84326	2.69	0.80722	D	1	D	0.65815	0.995	D	0.73380	0.98	T	0.72450	-0.4290	10	0.87932	D	0	-16.0033	19.8936	0.96942	0.0:0.0:1.0:0.0	.	456	Q8NFQ8	TOIP2_HUMAN	S	456	ENSP00000356584:P456S	ENSP00000356584:P456S	P	-	1	0	TOR1AIP2	178081876	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.229000	0.95273	2.793000	0.96121	0.655000	0.94253	CCA		0.463	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		3	71	0	0	0	0.004672	0	3	71				
XKR9	389668	broad.mit.edu	37	8	71646325	71646325	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr8:71646325A>G	ENST00000408926.3	+	5	1322	c.788A>G	c.(787-789)tAt>tGt	p.Y263C	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.Y263C	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	263						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GAATTCTTATATAGGATTGTT	0.289																																						ENST00000408926.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(787-789)tAt>tGt		XK, Kell blood group complex subunit-related family, member 9							99.0	98.0	99.0					8																	71646325		2202	4298	6500	SO:0001583	missense	389668					integral to membrane		g.chr8:71646325A>G	AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.788A>G	8.37:g.71646325A>G	ENSP00000386141:p.Tyr263Cys					XKR9_ENST00000520030.1_Missense_Mutation_p.Y263C|XKR9_ENST00000520273.1_Intron	p.Y263C	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)		5	1322	+	Breast(64;0.0716)		263					B2RNS9|B9EH74	Missense_Mutation	SNP	ENST00000408926.3	37	c.788A>G	CCDS34905.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905666	0.52333	.	.	ENSG00000221947	ENST00000408926;ENST00000520030	T;T	0.67698	-0.28;-0.28	4.99	4.99	0.66335	.	0.062606	0.64402	D	0.000003	D	0.82623	0.5077	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85706	0.1316	10	0.87932	D	0	-11.0758	14.8626	0.70392	1.0:0.0:0.0:0.0	.	263	Q5GH70	XKR9_HUMAN	C	263	ENSP00000386141:Y263C;ENSP00000431088:Y263C	ENSP00000386141:Y263C	Y	+	2	0	XKR9	71808879	1.000000	0.71417	0.702000	0.30337	0.493000	0.33554	5.152000	0.64882	2.100000	0.63781	0.460000	0.39030	TAT		0.289	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378752.1	NM_001011720		20	56	0	0	0	0.007413	0	20	56				
MUC16	94025	broad.mit.edu	37	19	9070400	9070400	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:9070400G>A	ENST00000397910.4	-	3	17249	c.17046C>T	c.(17044-17046)ccC>ccT	p.P5682P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5684	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P5682P(2)|p.P1315P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTCGTTACGGGCTCTGGGC	0.512																																						ENST00000397910.4																			3	Substitution - coding silent(3)	p.P5682P(2)|p.P1315P(1)	endometrium(3)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17044-17046)ccC>ccT		mucin 16, cell surface associated							146.0	140.0	142.0					19																	9070400		2007	4173	6180	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9070400G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17046C>T	19.37:g.9070400G>A							p.P5682P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	17249	-			5684			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.17046C>T	CCDS54212.1																																																																																				0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		18	27	0	0	0	0.006122	0	18	27				
ARHGEF10L	55160	broad.mit.edu	37	1	17950915	17950915	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:17950915G>A	ENST00000361221.3	+	13	1393	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D373N|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.D190N|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D373N|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.D170N|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D412N|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	412	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGTGTACAGTGACTACGTGAA	0.557																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1234-1236)Gac>Aac		Rho guanine nucleotide exchange factor (GEF) 10-like							272.0	209.0	231.0					1																	17950915		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17950915G>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1234G>A	1.37:g.17950915G>A	ENSP00000355060:p.Asp412Asn					ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D373N|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.D170N|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D373N|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.D190N|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D412N	p.D412N	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	13	1393	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	412			DH.		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.1234G>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233973	0.95207	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829	T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03	4.7	4.7	0.59300	Dbl homology (DH) domain (5);	0.055929	0.64402	D	0.000002	T	0.68952	0.3057	L	0.39085	1.19	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.993;0.98;0.998;0.958;0.996;0.999;0.999	D;P;D;P;P;D;D	0.77004	0.944;0.906;0.962;0.875;0.908;0.981;0.989	T	0.63730	-0.6571	10	0.17369	T	0.5	-35.6	16.2112	0.82164	0.0:0.0:1.0:0.0	.	190;170;412;178;373;373;412	Q5VXI4;B4DTE2;Q9HCE6-5;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	N	412;373;412;373;170;190;190	ENSP00000355060:D412N;ENSP00000399401:D373N;ENSP00000394621:D412N;ENSP00000364564:D373N;ENSP00000364569:D170N;ENSP00000364557:D190N	ENSP00000355060:D412N	D	+	1	0	ARHGEF10L	17823502	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.373000	0.97168	2.166000	0.68216	0.561000	0.74099	GAC		0.557	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		4	105	0	0	0	0.009096	0	4	105				
NOTCH1	4851	broad.mit.edu	37	9	139413214	139413214	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr9:139413214C>T	ENST00000277541.6	-	6	1003	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	310	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G310R(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCAGGTCCCGCCGTTCTGG	0.627			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.G310R(2)	upper_aerodigestive_tract(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(928-930)Ggg>Agg		notch 1							41.0	52.0	48.0					9																	139413214		2200	4292	6492	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413214C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.928G>A	9.37:g.139413214C>T	ENSP00000277541:p.Gly310Arg	HNSCC(8;0.001)					p.G310R	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1003	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	310			EGF-like 8; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.928G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301348	0.95601	.	.	ENSG00000148400	ENST00000277541	D	0.91521	-2.86	5.3	5.3	0.74995	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96334	0.8804	M	0.91920	3.255	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.97142	0.9825	10	0.87932	D	0	.	17.5056	0.87745	0.0:1.0:0.0:0.0	.	310	P46531	NOTC1_HUMAN	R	310	ENSP00000277541:G310R	ENSP00000277541:G310R	G	-	1	0	NOTCH1	138533035	0.993000	0.37304	0.996000	0.52242	0.997000	0.91878	3.834000	0.55798	2.477000	0.83638	0.561000	0.74099	GGG		0.627	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	16	0	0	0	0.003080	0	6	16				
REEP6	92840	broad.mit.edu	37	19	1495534	1495534	+	Silent	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:1495534C>T	ENST00000233596.3	+	3	380	c.276C>T	c.(274-276)taC>taT	p.Y92Y		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	92					regulation of intracellular transport (GO:0032386)	apical part of cell (GO:0045177)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTGGTGTACGCCCTGTTTG	0.622																																						ENST00000233596.3																			0				lung(1)|ovary(1)	2						c.(274-276)taC>taT		receptor accessory protein 6							180.0	145.0	157.0					19																	1495534		2202	4300	6502	SO:0001819	synonymous_variant	92840					integral to membrane		g.chr19:1495534C>T	BC008201	CCDS12070.1	19p13.3	2012-12-20	2006-02-08	2006-02-07	ENSG00000115255	ENSG00000115255		"""Receptor accessory proteins"""	30078	protein-coding gene	gene with protein product	"""polyposis locus protein 1-like 1"", ""deleted in polyposis 1-like 1"""	609346	"""chromosome 19 open reading frame 32"""	C19orf32		16271481, 15550249	Standard	NM_138393		Approved	DP1L1, FLJ25383	uc002ltc.3	Q96HR9	OTTHUMG00000180072	ENST00000233596.3:c.276C>T	19.37:g.1495534C>T							p.Y92Y	NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	380	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	92					B2RE01|D6W5Z0|Q96LM0	Silent	SNP	ENST00000233596.3	37	c.276C>T	CCDS12070.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192152	0.38707	.	.	ENSG00000115255	ENST00000395484	.	.	.	4.53	1.24	0.21308	.	.	.	.	.	T	0.61640	0.2363	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63479	-0.6628	5	0.72032	D	0.01	-5.0262	7.8149	0.29254	0.0:0.5918:0.0:0.4082	.	.	.	.	C	160	.	ENSP00000378865:R160C	R	+	1	0	REEP6	1446534	0.942000	0.31987	0.974000	0.42286	0.166000	0.22503	0.064000	0.14437	0.902000	0.36520	-0.141000	0.14075	CGC		0.622	REEP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449623.1	NM_138393		5	68	0	0	0	0.001168	0	5	68				
IFNAR2	3455	broad.mit.edu	37	21	34625023	34625023	+	Silent	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:34625023G>A	ENST00000342136.4	+	7	923	c.597G>A	c.(595-597)aaG>aaA	p.K199K	IFNAR2_ENST00000404220.3_Silent_p.K199K|IFNAR2_ENST00000382264.3_Silent_p.K199K|IFNAR2_ENST00000342101.3_Silent_p.K199K|IFNAR2_ENST00000413881.1_Silent_p.K127K|AP000295.9_ENST00000433395.2_Missense_Mutation_p.S107N|IFNAR2_ENST00000382241.3_Silent_p.K199K			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	199					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	TCATTGACAAGTTAATTCCAA	0.353																																						ENST00000433395.2																			0											c.(319-321)aGt>aAt									101.0	91.0	94.0					21																	34625023		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr21:34625023G>A		CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.597G>A	21.37:g.34625023G>A						IFNAR2_ENST00000382264.3_Silent_p.K199K|IFNAR2_ENST00000382241.3_Silent_p.K199K|IFNAR2_ENST00000342101.3_Silent_p.K199K|IFNAR2_ENST00000413881.1_Silent_p.K127K|IFNAR2_ENST00000342136.4_Silent_p.K199K|IFNAR2_ENST00000404220.3_Silent_p.K199K	p.S107N							3	320	+								A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	ENST00000342136.4	37	c.320G>A	CCDS13621.1	.	.	.	.	.	.	.	.	.	.	G	6.321	0.427372	0.11987	.	.	ENSG00000249624	ENST00000433395	.	.	.	4.13	-0.107	0.13592	.	.	.	.	.	T	0.21145	0.0509	.	.	.	0.19300	N	0.99997	.	.	.	.	.	.	T	0.24012	-1.0172	4	.	.	.	.	2.3709	0.04331	0.1023:0.312:0.3584:0.2272	.	.	.	.	N	107	.	.	S	+	2	0	AP000295.9	33546893	0.010000	0.17322	0.036000	0.18154	0.926000	0.56050	-0.313000	0.08103	-0.035000	0.13691	-0.304000	0.09214	AGT		0.353	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139825.1			29	31	0	0	0	0.009535	0	29	31				
DNAH2	146754	broad.mit.edu	37	17	7662866	7662866	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7662866C>T	ENST00000572933.1	+	16	4035	c.2575C>T	c.(2575-2577)Cca>Tca	p.P859S	DNAH2_ENST00000389173.2_Missense_Mutation_p.P859S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	859	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAAGACCAGCCCAAACCCACT	0.502																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(2575-2577)Cca>Tca		dynein, axonemal, heavy chain 2							124.0	114.0	118.0					17																	7662866		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7662866C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2575C>T	17.37:g.7662866C>T	ENSP00000458355:p.Pro859Ser					DNAH2_ENST00000389173.2_Missense_Mutation_p.P859S	p.P859S			Q9P225	DYH2_HUMAN			16	4035	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	859			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.2575C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080712	0.55753	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.21543	2.0	5.8	5.8	0.92144	.	0.231018	0.36374	N	0.002640	T	0.24431	0.0592	M	0.73962	2.25	0.80722	D	1	P	0.39376	0.67	B	0.37692	0.256	T	0.04796	-1.0926	10	0.08381	T	0.77	.	14.4363	0.67282	0.0:0.8524:0.1475:0.0	.	859	Q9P225	DYH2_HUMAN	S	859	ENSP00000373825:P859S	ENSP00000353818:P859S	P	+	1	0	DNAH2	7603591	0.986000	0.35501	0.853000	0.33588	0.957000	0.61999	3.753000	0.55180	2.745000	0.94114	0.491000	0.48974	CCA		0.502	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		26	35	0	0	0	0.005443	0	26	35				
ESR2	2100	broad.mit.edu	37	14	64735545	64735545	+	Missense_Mutation	SNP	C	C	T	rs368924653		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr14:64735545C>T	ENST00000341099.4	-	4	1037	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000557772.1_Missense_Mutation_p.R207Q|ESR2_ENST00000267525.6_Missense_Mutation_p.R207Q|ESR2_ENST00000358599.5_Missense_Mutation_p.R207Q|ESR2_ENST00000553796.1_Missense_Mutation_p.R207Q|ESR2_ENST00000357782.2_Missense_Mutation_p.R207Q|ESR2_ENST00000554572.1_Missense_Mutation_p.R207Q|ESR2_ENST00000555278.1_Missense_Mutation_p.R207Q|ESR2_ENST00000542956.1_Missense_Mutation_p.R207Q|ESR2_ENST00000353772.3_Missense_Mutation_p.R207Q	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	207					brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTAACACTTCCGAAGTCGGCA	0.478																																						ENST00000557772.1																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23						c.(619-621)cGg>cAg		estrogen receptor 2 (ER beta)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	1,0,2202	128.0	125.0	126.0		620,620,620,620,620	5.7	1.0	14		126	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ESR2	NM_001040275.1,NM_001040276.1,NM_001214902.1,NM_001214903.1,NM_001437.2	43,43,43,43,43	1,0,6502	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	207/496,207/496,207/482,207/473,207/531	64735545	2,13004	2203	4300	6503	SO:0001583	missense	0				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64735545C>T	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.620G>A	14.37:g.64735545C>T	ENSP00000343925:p.Arg207Gln					ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000542956.1_Missense_Mutation_p.R207Q|ESR2_ENST00000353772.3_Missense_Mutation_p.R207Q|ESR2_ENST00000358599.5_Missense_Mutation_p.R207Q|ESR2_ENST00000357782.2_Missense_Mutation_p.R207Q|ESR2_ENST00000554572.1_Missense_Mutation_p.R207Q|ESR2_ENST00000555278.1_Missense_Mutation_p.R207Q|ESR2_ENST00000553796.1_Missense_Mutation_p.R207Q|ESR2_ENST00000341099.4_Missense_Mutation_p.R207Q|ESR2_ENST00000267525.6_Missense_Mutation_p.R207Q	p.R207Q	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	3	619	-			207					A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Missense_Mutation	SNP	ENST00000341099.4	37	c.620G>A	CCDS9762.1	.	.	.	.	.	.	.	.	.	.	C	36	5.839260	0.97009	4.54E-4	0.0	ENSG00000140009	ENST00000556275;ENST00000542956;ENST00000554572;ENST00000353772;ENST00000358599;ENST00000555278;ENST00000553796;ENST00000357782;ENST00000557772;ENST00000341099;ENST00000267525	D;D;D;D;D;D;D;D;D;D;T	0.97303	-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;-4.33;0.47	5.67	5.67	0.87782	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (4);	0.057351	0.64402	D	0.000001	D	0.95865	0.8654	N	0.03948	-0.315	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.997;0.999	D;D;D;P;D	0.70227	0.95;0.968;0.928;0.897;0.957	D	0.97988	1.0353	10	0.87932	D	0	.	19.7793	0.96412	0.0:1.0:0.0:0.0	.	207;207;207;207;207	Q92731-7;Q92731;Q92731-6;Q92731-5;F1D8N3	.;ESR2_HUMAN;.;.;.	Q	207	ENSP00000452485:R207Q;ENSP00000441792:R207Q;ENSP00000450699:R207Q;ENSP00000335551:R207Q;ENSP00000351412:R207Q;ENSP00000450488:R207Q;ENSP00000452426:R207Q;ENSP00000350427:R207Q;ENSP00000451582:R207Q;ENSP00000343925:R207Q;ENSP00000267525:R207Q	ENSP00000267525:R207Q	R	-	2	0	ESR2	63805298	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.731000	0.84895	2.678000	0.91216	0.555000	0.69702	CGG		0.478	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1			12	90	0	0	0	0.001855	0	12	90				
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	lincRNA	SNP	G	G	A	rs7635172		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395									long intergenic non-protein coding RNA 969																		CAAACTCGCTGTTGGACCTGG	0.597																																						ENST00000445430.1																			0																																																			0							g.chr3:195400799G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400799G>A														0	1395	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	22	0	0	0	0.009096	0	3	22				
ZMPSTE24	10269	broad.mit.edu	37	1	40758165	40758165	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:40758165G>A	ENST00000372759.3	+	10	1417	c.1252G>A	c.(1252-1254)Gct>Act	p.A418T		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	418					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TGAGTTTCAAGCTGATGCATT	0.388																																						ENST00000372759.3																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16						c.(1252-1254)Gct>Act		zinc metallopeptidase STE24							108.0	115.0	113.0					1																	40758165		2203	4300	6503	SO:0001583	missense	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40758165G>A	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.1252G>A	1.37:g.40758165G>A	ENSP00000361845:p.Ala418Thr						p.A418T	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		10	1417	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	418					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	37	c.1252G>A	CCDS449.1	.	.	.	.	.	.	.	.	.	.	G	33	5.233047	0.95207	.	.	ENSG00000084073	ENST00000372759	D	0.89485	-2.52	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97360	0.9969	10	0.87932	D	0	-23.5882	18.79	0.91969	0.0:0.0:1.0:0.0	.	418	O75844	FACE1_HUMAN	T	418	ENSP00000361845:A418T	ENSP00000361845:A418T	A	+	1	0	ZMPSTE24	40530752	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.388000	0.97237	2.442000	0.82660	0.467000	0.42956	GCT		0.388	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			23	108	0	0	0	0.014323	0	23	108				
C3	718	broad.mit.edu	37	19	6678249	6678249	+	Silent	SNP	G	G	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:6678249G>T	ENST00000245907.6	-	40	4856	c.4764C>A	c.(4762-4764)atC>atA	p.I1588I	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1588	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTCTGCACTTGATGGGGCTGA	0.587																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(4762-4764)atC>atA		complement component 3							86.0	67.0	73.0					19																	6678249		2203	4300	6503	SO:0001819	synonymous_variant	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6678249G>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4764C>A	19.37:g.6678249G>T						C3_ENST00000599668.1_5'UTR	p.I1588I	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	40	4856	-			1588			NTR.		A7E236	Silent	SNP	ENST00000245907.6	37	c.4764C>A	CCDS32883.1																																																																																				0.587	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		7	29	1	0	2.7689e-08	0.001984	3.11501e-08	7	29				
GRIN2A	2903	broad.mit.edu	37	16	9928049	9928049	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:9928049T>A	ENST00000396573.2	-	9	1999	c.1690A>T	c.(1690-1692)Atg>Ttg	p.M564L	GRIN2A_ENST00000396575.2_Missense_Mutation_p.M564L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M564L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M407L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M564L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M564L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	564					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGAGCAGCATCACAAACATC	0.428																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(1690-1692)Atg>Ttg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						152.0	141.0	145.0					16																	9928049		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9928049T>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1690A>T	16.37:g.9928049T>A	ENSP00000379818:p.Met564Leu					GRIN2A_ENST00000396575.2_Missense_Mutation_p.M564L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M407L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M564L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M564L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M564L	p.M564L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			9	1999	-			564					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1690A>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284608	0.59867	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	4.55	4.55	0.56014	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.074942	0.85682	D	0.000000	T	0.35740	0.0942	L	0.33485	1.01	0.53688	D	0.999978	B;B;B	0.23442	0.017;0.085;0.047	B;B;B	0.20577	0.01;0.03;0.022	T	0.13335	-1.0513	9	.	.	.	.	13.3819	0.60773	0.0:0.0:0.0:1.0	.	407;564;564	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	564;564;407;564;564	ENSP00000379818:M564L;ENSP00000385872:M564L;ENSP00000441572:M407L;ENSP00000332549:M564L;ENSP00000379820:M564L	.	M	-	1	0	GRIN2A	9835550	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	5.913000	0.69957	1.816000	0.52996	0.455000	0.32223	ATG		0.428	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			4	128	0	0	0	0.009096	0	4	128				
DMD	1756	broad.mit.edu	37	X	32380909	32380909	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:32380909C>T	ENST00000357033.4	-	37	5527	c.5321G>A	c.(5320-5322)gGa>gAa	p.G1774E	DMD_ENST00000378677.2_Missense_Mutation_p.G1770E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1774	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTACCTTTCCAGTCTTAAT	0.483																																						ENST00000357033.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77						c.(5320-5322)gGa>gAa		dystrophin							172.0	135.0	148.0					X																	32380909		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32380909C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5321G>A	X.37:g.32380909C>T	ENSP00000354923:p.Gly1774Glu					DMD_ENST00000378677.2_Missense_Mutation_p.G1770E	p.G1774E	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN			37	5527	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1774			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5321G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.697644	0.48307	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48522	0.81;0.81	5.36	4.49	0.54785	.	0.000000	0.34223	U	0.004157	T	0.30008	0.0751	L	0.38531	1.155	0.80722	D	1	B;B;B;B;B	0.24768	0.019;0.111;0.024;0.024;0.024	B;B;B;B;B	0.26094	0.015;0.066;0.025;0.017;0.017	T	0.11767	-1.0574	10	0.02654	T	1	.	6.768	0.23579	0.1524:0.6958:0.0:0.1518	.	1766;1774;1770;433;430	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	E	1766;433;430;1770;1774;1774;1651	ENSP00000367948:G1770E;ENSP00000354923:G1774E	ENSP00000354923:G1774E	G	-	2	0	DMD	32290830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.000000	0.40816	2.218000	0.71995	0.544000	0.68410	GGA		0.483	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		16	26	0	0	0	0.004007	0	16	26				
LMX1A	4009	broad.mit.edu	37	1	165183011	165183011	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:165183011T>C	ENST00000342310.3	-	5	918	c.536A>G	c.(535-537)cAt>cGt	p.H179R	RP11-38C18.3_ENST00000441773.1_RNA|LMX1A_ENST00000367893.4_Missense_Mutation_p.H179R|LMX1A_ENST00000489443.2_5'Flank|LMX1A_ENST00000294816.2_Missense_Mutation_p.H179R|RP11-38C18.2_ENST00000457106.1_RNA	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	179					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCCTGCCCCATGGGCTGACTT	0.498																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(535-537)cAt>cGt		LIM homeobox transcription factor 1, alpha							192.0	177.0	182.0					1																	165183011		2203	4300	6503	SO:0001583	missense	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165183011T>C	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.536A>G	1.37:g.165183011T>C	ENSP00000340226:p.His179Arg					LMX1A_ENST00000294816.2_Missense_Mutation_p.H179R|LMX1A_ENST00000367893.4_Missense_Mutation_p.H179R	p.H179R	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			5	918	-	all_hematologic(923;0.248)		179					B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	c.536A>G	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	T	9.754	1.168368	0.21621	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.86497	-2.13;-2.13;-2.13	5.64	4.45	0.53987	Homeodomain-related (1);Homeodomain-like (1);	0.450771	0.25148	N	0.032768	T	0.56601	0.1996	N	0.08118	0	0.31077	N	0.712343	B	0.02656	0.0	B	0.04013	0.001	T	0.47923	-0.9079	9	0.14252	T	0.57	.	10.8972	0.47029	0.0:0.0:0.2464:0.7536	.	179	Q8TE12	LMX1A_HUMAN	R	179	ENSP00000340226:H179R;ENSP00000294816:H179R;ENSP00000356868:H179R	ENSP00000294816:H179R	H	-	2	0	LMX1A	163449635	0.995000	0.38212	0.929000	0.37066	0.978000	0.69477	2.430000	0.44766	2.131000	0.65755	0.528000	0.53228	CAT		0.498	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		91	97	0	0	0	0.014410	0	91	97				
OR9G1	390174	broad.mit.edu	37	11	56468711	56468711	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:56468711T>G	ENST00000312153.1	+	1	848	c.848T>G	c.(847-849)aTg>aGg	p.M283R		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GTATTCCCCATGTTGAATCTC	0.388																																						ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(847-849)aTg>aGg		olfactory receptor, family 9, subfamily G, member 1							120.0	128.0	125.0					11																	56468711		2201	4296	6497	SO:0001583	missense	390174							g.chr11:56468711T>G	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.848T>G	11.37:g.56468711T>G	ENSP00000309012:p.Met283Arg						p.M283R	NM_001005213.1	NP_001005213.1					1	848	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.848T>G	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.859267	0.51376	.	.	ENSG00000174914	ENST00000312153	T	0.38887	1.11	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.194994	0.37178	N	0.002203	T	0.64789	0.2630	H	0.97611	4.04	0.34126	D	0.664709	P	0.41475	0.751	B	0.44044	0.439	D	0.83659	0.0160	10	0.87932	D	0	-30.6036	14.1253	0.65215	0.0:0.0:0.0:1.0	.	283	Q8NH87	OR9G1_HUMAN	R	283	ENSP00000309012:M283R	ENSP00000309012:M283R	M	+	2	0	OR9G1	56225287	0.043000	0.20138	1.000000	0.80357	0.911000	0.54048	1.829000	0.39121	2.044000	0.60594	0.519000	0.50382	ATG		0.388	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		19	91	0	0	0	0.006122	0	19	91				
MCF2	4168	broad.mit.edu	37	X	138678852	138678852	+	Silent	SNP	T	T	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:138678852T>C	ENST00000370576.4	-	19	2342	c.2133A>G	c.(2131-2133)acA>acG	p.T711T	MCF2_ENST00000338585.6_Silent_p.T727T|MCF2_ENST00000520602.1_Silent_p.T771T|MCF2_ENST00000536274.1_Silent_p.T672T|MCF2_ENST00000414978.1_Silent_p.T771T|MCF2_ENST00000519895.1_Silent_p.T787T|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Silent_p.T711T|MCF2_ENST00000370578.4_Silent_p.T856T	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	711	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCTTCATTTTTGTAGCACCTT	0.398																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2311-2313)acA>acG		MCF.2 cell line derived transforming sequence							197.0	165.0	176.0					X																	138678852		2203	4300	6503	SO:0001819	synonymous_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138678852T>C		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2133A>G	X.37:g.138678852T>C						MCF2_ENST00000414978.1_Silent_p.T771T|MCF2_ENST00000370573.4_Silent_p.T711T|MCF2_ENST00000536274.1_Silent_p.T672T|MCF2_ENST00000370578.4_Silent_p.T856T|MCF2_ENST00000338585.6_Silent_p.T727T|MCF2_ENST00000370576.4_Silent_p.T711T|MCF2_ENST00000519895.1_Silent_p.T787T	p.T771T			P10911	MCF2_HUMAN			22	2598	-	Acute lymphoblastic leukemia(192;0.000127)		711			PH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	c.2313A>G	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	T	8.437	0.849867	0.17034	.	.	ENSG00000101977	ENST00000437564	.	.	.	5.78	-7.23	0.01480	.	.	.	.	.	T	0.50034	0.1592	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.55749	-0.8092	4	.	.	.	.	9.5387	0.39237	0.0:0.1878:0.4212:0.391	.	.	.	.	E	215	.	.	K	-	1	0	MCF2	138506518	0.002000	0.14202	0.924000	0.36721	0.984000	0.73092	-2.107000	0.01337	-1.118000	0.02961	-0.335000	0.08231	AAA		0.398	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		30	46	0	0	0	0.009535	0	30	46				
TP53	7157	broad.mit.edu	37	17	7578554	7578554	+	Splice_Site	SNP	A	A	C			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7578554A>C	ENST00000269305.4	-	5	565	c.376T>G	c.(376-378)Tac>Gac	p.Y126D	TP53_ENST00000359597.4_Splice_Site_p.Y126D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site_p.Y126D|TP53_ENST00000455263.2_Splice_Site_p.Y126D|TP53_ENST00000420246.2_Splice_Site_p.Y126D|TP53_ENST00000445888.2_Splice_Site_p.Y126D	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	126	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(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)	GCAGGGGAGTACTGTAGGAAG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		40	Substitution - Missense(17)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(4)|Insertion - In frame(1)|Unknown(1)	p.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(1)	central_nervous_system(6)|haematopoietic_and_lymphoid_tissue(6)|upper_aerodigestive_tract(4)|large_intestine(4)|lung(4)|prostate(4)|bone(4)|breast(3)|ovary(2)|stomach(1)|liver(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CI004819	TP53	I		c.e5-1	Other conserved DNA damage response genes	tumor protein p53							42.0	43.0	43.0					17																	7578554		2203	4300	6503	SO:0001630	splice_region_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.chr17:7578554A>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.376-1T>G	17.37:g.7578554A>C		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_ENST00000445888.2_Splice_Site_p.Y126_splice|TP53_ENST00000455263.2_Splice_Site_p.Y126_splice|TP53_ENST00000269305.4_Splice_Site_p.Y126_splice|TP53_ENST00000359597.4_Splice_Site_p.Y126_splice|TP53_ENST00000413465.2_Splice_Site_p.Y126_splice	p.Y126_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	126		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.375_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443641	0.83993	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.971;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-28.2517	13.8301	0.63375	1.0:0.0:0.0:0.0	.	87;126;126;33;126;126;126	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	126;126;126;126;126;126;115;33;33;126;126	ENSP00000410739:Y126D;ENSP00000352610:Y126D;ENSP00000269305:Y126D;ENSP00000398846:Y126D;ENSP00000391127:Y126D;ENSP00000391478:Y126D;ENSP00000423862:Y33D;ENSP00000424104:Y126D;ENSP00000426252:Y126D	ENSP00000269305:Y126D	Y	-	1	0	TP53	7519279	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.240000	0.95396	2.206000	0.71126	0.533000	0.62120	TAC		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	8	15	0	0	0	0.003080	0	8	15				
OR9G4	283189	broad.mit.edu	37	11	56511045	56511045	+	Silent	SNP	C	C	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:56511045C>G	ENST00000302957.3	-	1	242	c.243G>C	c.(241-243)ctG>ctC	p.L81L		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCAAAAAAGACAGATTGCCAA	0.428																																						ENST00000302957.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(241-243)ctG>ctC		olfactory receptor, family 9, subfamily G, member 4							96.0	98.0	98.0					11																	56511045		2201	4296	6497	SO:0001819	synonymous_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56511045C>G	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.243G>C	11.37:g.56511045C>G							p.L81L	NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN			1	242	-			81					Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	c.243G>C	CCDS31537.1																																																																																				0.428	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		12	76	0	0	0	0.001855	0	12	76				
SLC17A7	57030	broad.mit.edu	37	19	49933968	49933968	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:49933968C>G	ENST00000221485.3	-	12	1662	c.1491G>C	c.(1489-1491)tgG>tgC	p.W497C	SLC17A7_ENST00000543531.1_Missense_Mutation_p.W485C|SLC17A7_ENST00000600601.1_Missense_Mutation_p.W430C	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	497					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CAGGCTCTGCCCACGGCTGCT	0.587																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(1489-1491)tgG>tgC		solute carrier family 17 (vesicular glutamate transporter), member 7							71.0	62.0	65.0					19																	49933968		2203	4300	6503	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49933968C>G	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1491G>C	19.37:g.49933968C>G	ENSP00000221485:p.Trp497Cys					SLC17A7_ENST00000600601.1_Missense_Mutation_p.W430C|SLC17A7_ENST00000543531.1_Missense_Mutation_p.W485C	p.W497C	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	12	1662	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	497					B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.1491G>C	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969392	0.74246	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.59083	0.29;0.29	4.68	4.68	0.58851	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000020	T	0.80053	0.4553	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.84339	0.0526	10	0.87932	D	0	.	15.4824	0.75537	0.0:1.0:0.0:0.0	.	497;339	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	C	497;485	ENSP00000221485:W497C;ENSP00000441767:W485C	ENSP00000221485:W497C	W	-	3	0	SLC17A7	54625780	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.536000	0.82023	2.614000	0.88457	0.585000	0.79938	TGG		0.587	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			4	52	0	0	0	0.009096	0	4	52				
HCRTR2	3062	broad.mit.edu	37	6	55147128	55147128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:55147128delG	ENST00000370862.3	+	7	1547	c.1211delG	c.(1210-1212)cggfs	p.R404fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	404					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGAGAGCCGGAAGTCCTTG	0.483																																						ENST00000370862.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(1210-1212)cgfs		hypocretin (orexin) receptor 2							90.0	79.0	83.0					6																	55147128		2203	4300	6503	SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55147128delG	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.1211delG	6.37:g.55147128delG	ENSP00000359899:p.Arg404fs						p.R404fs	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		7	1547	+	Lung NSC(77;0.107)|Renal(3;0.122)		404					Q5VTM0	Frame_Shift_Del	DEL	ENST00000370862.3	37	c.1211delG	CCDS4956.1																																																																																				0.483	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			12	25						12	25	---	---	---	---
ASCL4	121549	broad.mit.edu	37	12	108169502	108169502	+	Frame_Shift_Del	DEL	G	G	-	rs201513808	byFrequency	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr12:108169502delG	ENST00000342331.4	+	1	1341	c.510delG	c.(508-510)gagfs	p.E170fs		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	169					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						AGCCCGAGGAGGGGGGCAGCT	0.736													GGGGGG|GGGGGG|GGGGG|deletion	51	0.0101837	0.0015	0.0504	5008	,	,		8915	0.0		0.005	False		,,,				2504	0.0092				GBM(170;776 3695 11650)	ENST00000342331.4																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						c.(508-510)gafs		achaete-scute family bHLH transcription factor 4				8,2980		0,8,1486	5.0	6.0	6.0			3.5	1.0	12		6	61,6519		8,45,3237	no	frameshift	ASCL4	NM_203436.2		8,53,4723	A1A1,A1R,RR		0.9271,0.2677,0.7212			108169502	69,9499	1618	3565	5183	SO:0001589	frameshift_variant	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169502delG	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.510delG	12.37:g.108169502delG	ENSP00000345420:p.Glu170fs						p.E170fs	NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN			1	1341	+			169					Q7RTS2	Frame_Shift_Del	DEL	ENST00000342331.4	37	c.510delG	CCDS31894.2																																																																																				0.736	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		4	7						4	7	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577081	7577099	+	Frame_Shift_Del	DEL	TCCTCTGTGCGCCGGTCTC	TCCTCTGTGCGCCGGTCTC	-	rs149633775|rs121912667|rs371409680|rs121912660|rs28934574|rs112431538|rs587781525	byFrequency	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7577081_7577099delTCCTCTGTGCGCCGGTCTC	ENST00000269305.4	-	8	1028_1046	c.839_857delGAGACCGGCGCACAGAGGA	c.(838-858)agagaccggcgcacagaggaafs	p.RDRRTEE280fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.RDRRTEE280fs	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	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.E285K(111)|p.R280T(65)|p.E286K(58)|p.R280K(49)|p.R282G(29)|p.D281E(28)|p.R283P(27)|p.R282Q(27)|p.D281N(25)|p.E285*(24)|p.E286*(22)|p.D281H(19)|p.E286G(18)|p.R283C(17)|p.R282P(17)|p.R280I(16)|p.D281Y(16)|p.E285V(15)|p.R280S(15)|p.R283H(13)|p.R282R(10)|p.D281G(10)|p.E286V(9)|p.T284P(9)|p.0?(8)|p.E285G(5)|p.E286Q(5)|p.D281V(5)|p.D281D(5)|p.E285Q(4)|p.R283R(4)|p.R283L(4)|p.R282fs*24(4)|p.R283fs*62(4)|p.E285E(3)|p.T284T(3)|p.R282L(3)|p.R282H(3)|p.R280R(3)|p.T284A(3)|p.R283G(2)|p.E285A(2)|p.D281fs*63(2)|p.E286fs*59(2)|p.D281_R282>EW(2)|p.R283fs*23(2)|p.D281A(2)|p.T284fs*21(2)|p.D281>AGPY(2)|p.R280_D281delRD(2)|p.R283fs*16(2)|p.E286fs*17(2)|p.T284fs*61(2)|p.T284fs*62(2)|p.R283fs*63(2)|p.?(2)|p.R283S(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.R283fs*56(1)|p.E286A(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_N288delEEEN(1)|p.R283del(1)|p.R283fs*22(1)|p.V272_K292del21(1)|p.D281R(1)|p.E285fs*60(1)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.T284_G293del10(1)|p.D281fs*24(1)|p.E285fs*13(1)|p.T284I(1)|p.L265_K305del41(1)|p.R283_T284>T(1)|p.R282fs*63(1)|p.A276fs*64(1)|p.E285_L289delEEENL(1)|p.R282_E287delRRTEEE(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.T284fs*57(1)|p.D281_R282delDR(1)|p.E285fs*20(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)	GAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACA	0.553		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"""		1180	Substitution - Missense(1036)|Substitution - Nonsense(46)|Deletion - Frameshift(28)|Substitution - coding silent(28)|Deletion - In frame(14)|Insertion - Frameshift(10)|Whole gene deletion(8)|Unknown(2)|Complex - frameshift(2)|Complex - insertion inframe(2)|Complex - compound substitution(2)|Complex - deletion inframe(1)|Insertion - In frame(1)	p.R282W(401)|p.E285K(111)|p.R280T(65)|p.E286K(58)|p.R280K(49)|p.R282G(29)|p.D281E(28)|p.R283P(27)|p.R282Q(27)|p.D281N(25)|p.E285*(24)|p.E286*(22)|p.D281H(19)|p.E286G(18)|p.R283C(17)|p.R282P(17)|p.R280I(16)|p.D281Y(16)|p.E285V(15)|p.R280S(15)|p.R283H(13)|p.R282R(10)|p.D281G(10)|p.E286V(9)|p.T284P(9)|p.0?(8)|p.E285G(5)|p.E286Q(5)|p.D281V(5)|p.D281D(5)|p.E285Q(4)|p.R283R(4)|p.R283L(4)|p.R282fs*24(4)|p.R283fs*62(4)|p.E285E(3)|p.T284T(3)|p.R282L(3)|p.R282H(3)|p.R280R(3)|p.T284A(3)|p.R283G(2)|p.E285A(2)|p.D281fs*63(2)|p.E286fs*59(2)|p.D281_R282>EW(2)|p.R283fs*23(2)|p.D281A(2)|p.T284fs*21(2)|p.D281>AGPY(2)|p.R280_D281delRD(2)|p.R283fs*16(2)|p.E286fs*17(2)|p.T284fs*61(2)|p.T284fs*62(2)|p.R283fs*63(2)|p.?(2)|p.R283S(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.R283fs*56(1)|p.E286A(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_N288delEEEN(1)|p.R283del(1)|p.R283fs*22(1)|p.V272_K292del21(1)|p.D281R(1)|p.E285fs*60(1)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.T284_G293del10(1)|p.D281fs*24(1)|p.E285fs*13(1)|p.T284I(1)|p.L265_K305del41(1)|p.R283_T284>T(1)|p.R282fs*63(1)|p.A276fs*64(1)|p.E285_L289delEEENL(1)|p.R282_E287delRRTEEE(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.T284fs*57(1)|p.D281_R282delDR(1)|p.E285fs*20(1)	large_intestine(188)|urinary_tract(159)|lung(138)|breast(101)|upper_aerodigestive_tract(99)|oesophagus(82)|haematopoietic_and_lymphoid_tissue(63)|ovary(55)|stomach(52)|skin(48)|central_nervous_system(48)|liver(41)|pancreas(18)|biliary_tract(16)|prostate(13)|soft_tissue(10)|bone(10)|endometrium(8)|vulva(7)|thyroid(4)|peritoneum(3)|autonomic_ganglia(3)|kidney(2)|eye(2)|NS(2)|adrenal_gland(2)|salivary_gland(2)|cervix(1)|genital_tract(1)|vagina(1)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD003107|CM004343|CM004344|CM021154|CM041458|CM056068|CM056413|CM076566|CM076567|CM083790|CM920678|CM920679|CM993218|CM995136	TP53	D|M	rs112431538|rs121912660|rs121912667|rs149633775|rs28934574	c.(838-858)aafs	Other conserved DNA damage response genes	tumor protein p53																																				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.chr17:7577081_7577099delTCCTCTGTGCGCCGGTCTC	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.839_857delGAGACCGGCGCACAGAGGA	17.37:g.7577081_7577099delTCCTCTGTGCGCCGGTCTC	ENSP00000269305:p.Arg280fs	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_ENST00000359597.4_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.RDRRTEE280fs	p.RDRRTEE280fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	971_989	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	280		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.839_857delGAGACCGGCGCACAGAGGA	CCDS11118.1																																																																																				0.553	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	48						15	48	---	---	---	---
RP11-271K11.5	0	broad.mit.edu	37	17	29369492	29369493	+	RNA	DEL	CA	CA	-	rs541473329	byFrequency	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:29369492_29369493delCA	ENST00000583112.1	-	0	628																		p.?(1)									cacaggcaagcacacacacaca	0.51																																						ENST00000583112.1																			1	Unknown(1)	p.?(1)	central_nervous_system(1)																																																0							g.chr17:29369492_29369493delCA																													17.37:g.29369502_29369503delCA														0	628	-									RNA	DEL	ENST00000583112.1	37																																																																																						0.510	RP11-271K11.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444574.1			2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76939864	76939864	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:76939864delT	ENST00000373344.5	-	9	1098	c.884delA	c.(883-885)aagfs	p.K297fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K259fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	297					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						TATCTTCTTCTTATTTTGCTG	0.348			"""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.(883-885)agfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						131.0	122.0	125.0					X																	76939864		2203	4294	6497	SO:0001589	frameshift_variant	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:76939864delT	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.884delA	X.37:g.76939864delT	ENSP00000362441:p.Lys297fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K259fs	p.K297fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1098	-			297					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.884delA	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		85	11						85	11	---	---	---	---
