#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
DUSP2	1844	broad.mit.edu	37	2	96811088	96811088	+	Silent	SNP	C	C	A	rs557719539		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:96811088C>A	ENST00000288943.4	-	1	91	c.6G>T	c.(4-6)ggG>ggT	p.G2G	AC012307.2_ENST00000449242.1_lincRNA	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN	dual specificity phosphatase 2	2					endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(1)|lung(2)|skin(1)	5		Ovarian(717;0.0228)				CCGCCTCCAGCCCCATGGCCA	0.746																																						ENST00000288943.4																			0				NS(1)|breast(1)|lung(2)|skin(1)	5						c.(4-6)ggG>ggT		dual specificity phosphatase 2							5.0	7.0	6.0					2																	96811088		1370	2739	4109	SO:0001819	synonymous_variant	1844				endoderm formation|inactivation of MAPK activity|regulation of apoptosis	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr2:96811088C>A	L11329	CCDS2016.1	2q11	2011-06-09			ENSG00000158050	ENSG00000158050		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3068	protein-coding gene	gene with protein product		603068				7806236, 7590752, 12673251	Standard	NM_004418		Approved	PAC-1	uc002svk.4	Q05923	OTTHUMG00000130456	ENST00000288943.4:c.6G>T	2.37:g.96811088C>A							p.G2G	NM_004418.3	NP_004409.1	Q05923	DUS2_HUMAN			1	91	-		Ovarian(717;0.0228)	2					Q53T45	Silent	SNP	ENST00000288943.4	37	c.6G>T	CCDS2016.1																																																																																				0.746	DUSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252847.1	NM_004418		4	15	1	0	0.014758	1	0.0151605	4	15				
MC1R	4157	broad.mit.edu	37	16	89986383	89986383	+	Silent	SNP	C	C	T	rs34490506		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr16:89986383C>T	ENST00000555147.1	+	1	2097	c.717C>T	c.(715-717)ggC>ggT	p.G239G	TUBB3_ENST00000556922.1_Silent_p.G239G|TUBB3_ENST00000554444.1_5'Flank|RP11-566K11.4_ENST00000554623.1_RNA|RP11-566K11.7_ENST00000570217.1_RNA|MC1R_ENST00000555427.1_Silent_p.G239G	NM_002386.3	NP_002377.4	Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	239					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCCTTAAAGGCGCTGTCACCC	0.652									Melanoma, Familial Clustering of				C|||	1	0.000199681	0.0	0.0	5008	,	,		18681	0.0		0.0	False		,,,				2504	0.001					ENST00000555427.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(715-717)ggC>ggT		melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)		C		0,4156		0,0,2078	42.0	47.0	45.0		717	-9.6	0.1	16	dbSNP_126	45	2,8376		0,2,4187	yes	coding-synonymous	MC1R	NM_002386.3		0,2,6265	TT,TC,CC		0.0239,0.0,0.016		239/318	89986383	2,12532	2078	4189	6267	SO:0001819	synonymous_variant	4157	Melanoma, Familial Clustering of	Familial Cancer Database					g.chr16:89986383C>T		CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555147.1:c.717C>T	16.37:g.89986383C>T						TUBB3_ENST00000556922.1_Silent_p.G239G|MC1R_ENST00000555147.1_Silent_p.G239G|RP11-566K11.4_ENST00000554623.1_RNA	p.G239G						BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	3020	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)						Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	Silent	SNP	ENST00000555147.1	37	c.717C>T	CCDS56011.1																																																																																				0.652	MC1R-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412014.1	NM_002386		27	54	0	0	0	1	0	27	54				
FAM217B	63939	broad.mit.edu	37	20	58519756	58519756	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr20:58519756A>G	ENST00000358293.3	+	5	1173	c.758A>G	c.(757-759)cAc>cGc	p.H253R	FAM217B_ENST00000360816.3_Missense_Mutation_p.H253R|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	253																	AAAGCTTTTCACCATGAAGAA	0.488																																						ENST00000358293.3																			0											c.(757-759)cAc>cGc		family with sequence similarity 217, member B							89.0	93.0	92.0					20																	58519756		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58519756A>G	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.758A>G	20.37:g.58519756A>G	ENSP00000351040:p.His253Arg					FAM217B_ENST00000360816.3_Missense_Mutation_p.H253R|FAM217B_ENST00000469084.1_3'UTR	p.H253R	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN			5	1173	+			253					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.758A>G	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	A	1.383	-0.582815	0.03827	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.21031	2.03;2.03	5.8	-11.6	0.00059	.	1.343030	0.04931	N	0.456803	T	0.06050	0.0157	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10683	-1.0619	10	0.07030	T	0.85	0.2452	8.186	0.31339	0.1433:0.4744:0.3091:0.0733	.	253	Q9NTX9	CT177_HUMAN	R	253	ENSP00000351040:H253R;ENSP00000354056:H253R	ENSP00000351040:H253R	H	+	2	0	C20orf177	57953151	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.017000	0.00644	-3.869000	0.00097	-0.274000	0.10170	CAC		0.488	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		38	86	0	0	0	1	0	38	86				
PARD3B	117583	broad.mit.edu	37	2	206037056	206037056	+	Missense_Mutation	SNP	G	G	A	rs370874606		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:206037056G>A	ENST00000406610.2	+	12	1949	c.1742G>A	c.(1741-1743)cGa>cAa	p.R581Q	PARD3B_ENST00000358768.2_Missense_Mutation_p.R519Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.R581Q|PARD3B_ENST00000462231.1_Missense_Mutation_p.R581Q|PARD3B_ENST00000349953.3_Missense_Mutation_p.R581Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	581	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GGAAACATCCGAGGGATGATC	0.493																																						ENST00000406610.2																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65						c.(1741-1743)cGa>cAa		par-3 family cell polarity regulator beta		G	GLN/ARG,GLN/ARG,GLN/ARG	0,3926		0,0,1963	114.0	115.0	114.0		1742,1556,1742	5.4	1.0	2		114	1,8341		0,1,4170	no	missense,missense,missense	PARD3B	NM_057177.6,NM_152526.5,NM_205863.3	43,43,43	0,1,6133	AA,AG,GG		0.012,0.0,0.0082	probably-damaging,probably-damaging,probably-damaging	581/1137,519/1144,581/1105	206037056	1,12267	1963	4171	6134	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206037056G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1742G>A	2.37:g.206037056G>A	ENSP00000385848:p.Arg581Gln					PARD3B_ENST00000462231.1_Missense_Mutation_p.R581Q|PARD3B_ENST00000349953.3_Missense_Mutation_p.R581Q|PARD3B_ENST00000358768.2_Missense_Mutation_p.R519Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.R581Q	p.R581Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	12	1949	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	581			PDZ 3.		E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.1742G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.176939	0.94846	0.0	1.2E-4	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.41	5.41	0.78517	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	L	0.35644	1.08	0.53005	D	0.999962	D;D;D;D;D	0.89917	0.999;1.0;0.99;1.0;1.0	D;D;D;D;D	0.97110	0.992;0.997;0.932;1.0;0.998	T	0.02202	-1.1196	10	0.46703	T	0.11	.	19.2046	0.93724	0.0:0.0:1.0:0.0	.	581;581;581;519;581	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	Q	581;519;581;581	ENSP00000385848:R581Q;ENSP00000351618:R519Q;ENSP00000317261:R581Q;ENSP00000340280:R581Q	ENSP00000340280:R581Q	R	+	2	0	PARD3B	205745301	1.000000	0.71417	0.988000	0.46212	0.875000	0.50365	9.476000	0.97823	2.548000	0.85928	0.585000	0.79938	CGA		0.493	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		19	34	0	0	0	1	0	19	34				
RAC1	5879	broad.mit.edu	37	7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000356142.4_Missense_Mutation_p.A178V|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GAGTGCTCGGCGCTCACACAG	0.567																																						ENST00000348035.4																			2	Substitution - Missense(2)	p.A159V(1)|p.A178V(1)	endometrium(2)	cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(475-477)gCg>gTg		ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	Pravastatin(DB00175)|Simvastatin(DB00641)						133.0	110.0	118.0					7																	6441974		2203	4300	6503	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6441974C>T	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.476C>T	7.37:g.6441974C>T	ENSP00000258737:p.Ala159Val					RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	p.A159V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	6	689	+		Ovarian(82;0.0776)	159					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.476C>T	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	.	36	5.951588	0.97139	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	D;D	0.88818	-2.43;-2.43	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	D	0.96470	0.8848	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.75484	0.965;0.986	D	0.96554	0.9410	10	0.87932	D	0	.	20.731	0.99711	0.0:1.0:0.0:0.0	.	159;178	P63000;A4D2P0	RAC1_HUMAN;.	V	159;178	ENSP00000258737:A159V;ENSP00000348461:A178V	ENSP00000258737:A159V	A	+	2	0	RAC1	6408499	1.000000	0.71417	0.391000	0.26233	0.929000	0.56500	7.715000	0.84713	2.907000	0.99374	0.609000	0.83330	GCG		0.567	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		29	71	0	0	0	1	0	29	71				
PCDH9	5101	broad.mit.edu	37	13	67205374	67205374	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr13:67205374G>T	ENST00000377865.2	-	3	3442	c.3308C>A	c.(3307-3309)aCt>aAt	p.T1103N	PCDH9_ENST00000456367.1_Missense_Mutation_p.T1069N|PCDH9_ENST00000544246.1_Missense_Mutation_p.T1103N|RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.T1069N			Q9HC56	PCDH9_HUMAN	protocadherin 9	1103					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ATCTGCTTCAGTCCTCTTGTC	0.502																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3307-3309)aCt>aAt		protocadherin 9							112.0	110.0	111.0					13																	67205374		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67205374G>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3308C>A	13.37:g.67205374G>T	ENSP00000367096:p.Thr1103Asn					PCDH9_ENST00000377865.2_Missense_Mutation_p.T1103N|PCDH9_ENST00000328454.5_Missense_Mutation_p.T1069N|PCDH9_ENST00000456367.1_Missense_Mutation_p.T1069N	p.T1103N	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	4	3999	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1103					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.3308C>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590336	0.86851	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.56776	0.5;0.5;0.44;0.44	5.49	5.49	0.81192	.	0.170537	0.41712	D	0.000827	T	0.70413	0.3221	L	0.55213	1.73	0.48452	D	0.99965	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	T	0.72301	-0.4334	10	0.87932	D	0	.	19.3656	0.94460	0.0:0.0:1.0:0.0	.	1061;1069;1103	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	N	1103;1103;1069;1069	ENSP00000442186:T1103N;ENSP00000367096:T1103N;ENSP00000401699:T1069N;ENSP00000332060:T1069N	ENSP00000332060:T1069N	T	-	2	0	PCDH9	66103375	1.000000	0.71417	0.992000	0.48379	0.956000	0.61745	9.429000	0.97481	2.573000	0.86826	0.655000	0.94253	ACT		0.502	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		23	87	1	0	1.26454e-06	1	1.37397e-06	23	87				
HLA-B	3106	broad.mit.edu	37	6	31324917	31324917	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr6:31324917G>A	ENST00000412585.2	-	1	47	c.19C>T	c.(19-21)Cga>Tga	p.R7*		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	7					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGGACGGTTCGGGGCGCCATG	0.682									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.(19-21)Cga>Tga		major histocompatibility complex, class I, B							14.0	12.0	13.0					6																	31324917		2100	4078	6178	SO:0001587	stop_gained	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31324917G>A	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.19C>T	6.37:g.31324917G>A	ENSP00000399168:p.Arg7*						p.R7*	NM_005514.6	NP_005505.2					1	47	-								Q29764	Nonsense_Mutation	SNP	ENST00000412585.2	37	c.19C>T	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	18.82	3.705596	0.68615	.	.	ENSG00000234745	ENST00000412585	.	.	.	3.34	0.474	0.16768	.	5.945680	0.01256	U	0.009039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.23	0.06745	0.2623:0.227:0.5107:0.0	.	.	.	.	X	7	.	ENSP00000399168:R7X	R	-	1	2	HLA-B	31432896	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.153000	0.10144	0.244000	0.21351	0.442000	0.29010	CGA		0.682	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		10	6	0	0	0	1	0	10	6				
HTR1E	3354	broad.mit.edu	37	6	87725712	87725712	+	Silent	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr6:87725712G>A	ENST00000305344.5	+	2	1363	c.660G>A	c.(658-660)cgG>cgA	p.R220R		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	220					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATCAAGTCGGCACTTAAGCA	0.458																																						ENST00000305344.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(658-660)cgG>cgA		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						105.0	106.0	106.0					6																	87725712		2203	4300	6503	SO:0001819	synonymous_variant	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725712G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.660G>A	6.37:g.87725712G>A						HTR1E_ENST00000369584.1_Silent_p.R220R	p.R220R	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1363	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	220					E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	c.660G>A	CCDS5006.1																																																																																				0.458	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		39	99	0	0	0	1	0	39	99				
TIMM23	100287932	broad.mit.edu	37	10	51592529	51592529	+	Missense_Mutation	SNP	C	C	T	rs150556806		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr10:51592529C>T	ENST00000260867.4	-	7	728	c.605G>A	c.(604-606)gGc>gAc	p.G202D	TIMM23_ENST00000485812.1_5'UTR|TIMM23_ENST00000374065.3_Missense_Mutation_p.G165D|TIMM23_ENST00000374064.3_Missense_Mutation_p.G154D	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN	translocase of inner mitochondrial membrane 23 homolog (yeast)	202					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			endometrium(1)|large_intestine(1)|pancreas(1)	3						GAGCAAGGAGCCTTTCATGTG	0.443																																						ENST00000260867.4																			0				endometrium(1)|large_intestine(1)|pancreas(1)	3						c.(604-606)gGc>gAc		translocase of inner mitochondrial membrane 23 homolog (yeast)							139.0	133.0	135.0					10																	51592529		2203	4300	6503	SO:0001583	missense	100287932				protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding	g.chr10:51592529C>T	AF030162	CCDS73091.1	10q11.21-q11.23	2010-03-17			ENSG00000138297				17312	protein-coding gene	gene with protein product		605034				10339406	Standard	NM_006327		Approved	TIM23	uc010qha.2	O14925	OTTHUMG00000018213	ENST00000260867.4:c.605G>A	10.37:g.51592529C>T	ENSP00000260867:p.Gly202Asp					TIMM23_ENST00000485812.1_5'UTR|TIMM23_ENST00000374065.3_Missense_Mutation_p.G165D|TIMM23_ENST00000374064.3_Missense_Mutation_p.G154D	p.G202D	NM_006327.3	NP_006318.1	O14925	TIM23_HUMAN			7	728	-			202					Q53FF8|Q5T1E6|Q6P5S5	Missense_Mutation	SNP	ENST00000260867.4	37	c.605G>A	CCDS7238.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949084	0.53186	.	.	ENSG00000138297	ENST00000260867;ENST00000374064;ENST00000374065	.	.	.	5.55	4.65	0.58169	.	0.123173	0.52532	D	0.000061	T	0.74245	0.3691	L	0.54323	1.7	0.46725	D	0.999178	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74873	-0.3516	9	0.45353	T	0.12	-15.4867	14.5407	0.67990	0.0:0.9303:0.0:0.0697	.	165;202	B1APJ0;O14925	.;TIM23_HUMAN	D	202;154;165	.	ENSP00000260867:G202D	G	-	2	0	TIMM23	51262535	1.000000	0.71417	0.998000	0.56505	0.047000	0.14425	3.165000	0.50778	1.578000	0.49821	0.655000	0.94253	GGC		0.443	TIMM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048040.1	NM_006327.2		13	44	0	0	0	1	0	13	44				
TNIP1	10318	broad.mit.edu	37	5	150436431	150436431	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr5:150436431G>A	ENST00000389378.2	-	6	1111	c.523C>T	c.(523-525)Ccg>Tcg	p.P175S	TNIP1_ENST00000521591.1_Missense_Mutation_p.P175S|TNIP1_ENST00000522226.1_Missense_Mutation_p.P175S|TNIP1_ENST00000523200.1_Missense_Mutation_p.P175S|TNIP1_ENST00000315050.7_Missense_Mutation_p.P175S|TNIP1_ENST00000524280.1_Missense_Mutation_p.P175S|TNIP1_ENST00000518977.1_Missense_Mutation_p.P175S|TNIP1_ENST00000520931.1_Missense_Mutation_p.P122S|TNIP1_ENST00000523338.1_Missense_Mutation_p.P175S	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	175	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGTGGTCCGGCTCCTCGGCA	0.652																																						ENST00000389378.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23						c.(523-525)Ccg>Tcg		TNFAIP3 interacting protein 1							39.0	39.0	39.0					5																	150436431		2203	4300	6503	SO:0001583	missense	10318				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding	g.chr5:150436431G>A	AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.523C>T	5.37:g.150436431G>A	ENSP00000374029:p.Pro175Ser					TNIP1_ENST00000524280.1_Missense_Mutation_p.P175S|TNIP1_ENST00000523200.1_Missense_Mutation_p.P175S|TNIP1_ENST00000521591.1_Missense_Mutation_p.P175S|TNIP1_ENST00000523338.1_Missense_Mutation_p.P175S|TNIP1_ENST00000518977.1_Missense_Mutation_p.P175S|TNIP1_ENST00000520931.1_Missense_Mutation_p.P122S|TNIP1_ENST00000315050.7_Missense_Mutation_p.P175S|TNIP1_ENST00000522226.1_Missense_Mutation_p.P175S	p.P175S	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	1111	-		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	175			Interacts with Nef.		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	ENST00000389378.2	37	c.523C>T	CCDS34280.1	.	.	.	.	.	.	.	.	.	.	G	8.241	0.806913	0.16467	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840;ENST00000522100	T;T;T;T;T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95;1.95	5.03	5.03	0.67393	.	0.114763	0.64402	D	0.000009	T	0.14614	0.0353	L	0.35723	1.085	0.45528	D	0.998489	B;B;B;B;B;B;B	0.21688	0.027;0.034;0.047;0.034;0.059;0.032;0.008	B;B;B;B;B;B;B	0.20955	0.015;0.026;0.015;0.026;0.028;0.032;0.02	T	0.07578	-1.0765	10	0.11182	T	0.66	-17.4889	9.5132	0.39089	0.081:0.1563:0.7627:0.0	.	175;129;129;175;175;175;175	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	S	122;175;175;175;132;132;137;175;175;175;175;175;132;122	ENSP00000429891:P122S;ENSP00000374029:P175S;ENSP00000317891:P175S;ENSP00000428243:P175S;ENSP00000428187:P175S;ENSP00000430760:P175S;ENSP00000430971:P175S;ENSP00000429912:P175S;ENSP00000431105:P175S;ENSP00000428487:P122S	ENSP00000317891:P175S	P	-	1	0	TNIP1	150416624	1.000000	0.71417	0.998000	0.56505	0.591000	0.36615	3.110000	0.50352	2.489000	0.83994	0.655000	0.94253	CCG		0.652	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374914.1	NM_006058		12	48	0	0	0	1	0	12	48				
RIMBP2	23504	broad.mit.edu	37	12	130926628	130926628	+	Silent	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:130926628G>A	ENST00000261655.4	-	8	1381	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S	RIMBP2_ENST00000535703.1_Silent_p.S314S|RIMBP2_ENST00000536002.1_Silent_p.S314S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	406	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGAGCTGGGCGGAGATCTGCG	0.627																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(1216-1218)tcC>tcT		RIMS binding protein 2							103.0	75.0	84.0					12																	130926628		2203	4300	6503	SO:0001819	synonymous_variant	23504					cell junction|synapse		g.chr12:130926628G>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1218C>T	12.37:g.130926628G>A						RIMBP2_ENST00000536002.1_Silent_p.S314S|RIMBP2_ENST00000535703.1_Silent_p.S314S	p.S406S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	8	1381	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	406			Fibronectin type-III 2.		Q96ID2	Silent	SNP	ENST00000261655.4	37	c.1218C>T	CCDS31925.1																																																																																				0.627	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		3	33	0	0	0	1	0	3	33				
COL3A1	1281	broad.mit.edu	37	2	189850437	189850437	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:189850437G>A	ENST00000304636.3	+	4	550	c.380G>A	c.(379-381)gGa>gAa	p.G127E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G127E	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	127					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)	GGTATTCCAGGACAACCAGGG	0.443																																						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.(379-381)gGa>gAa		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						41.0	44.0	43.0					2																	189850437		2203	4300	6503	SO:0001583	missense	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.chr2:189850437G>A	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.380G>A	2.37:g.189850437G>A	ENSP00000304408:p.Gly127Glu					COL3A1_ENST00000317840.5_Missense_Mutation_p.G127E	p.G127E	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		4	550	+			127					D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.380G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592688	0.86953	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99353	-5.77;-5.77	4.62	4.62	0.57501	.	0.000000	0.47455	D	0.000238	D	0.99563	0.9843	H	0.94847	3.59	0.51767	D	0.999934	D	0.89917	1.0	D	0.97110	1.0	D	0.97875	1.0288	10	0.87932	D	0	.	15.8159	0.78599	0.0:0.0:1.0:0.0	.	127	P02461	CO3A1_HUMAN	E	127	ENSP00000304408:G127E;ENSP00000315243:G127E	ENSP00000304408:G127E	G	+	2	0	COL3A1	189558682	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	9.010000	0.93611	2.414000	0.81942	0.313000	0.20887	GGA		0.443	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		6	34	0	0	0	1	0	6	34				
CSTF2	1478	broad.mit.edu	37	X	100087838	100087838	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:100087838C>A	ENST00000372972.2	+	10	1163	c.1147C>A	c.(1147-1149)Cta>Ata	p.L383I	CSTF2_ENST00000415585.2_Missense_Mutation_p.L403I	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	383	Gly/Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GCCCAGACCTCTAATGGCAGA	0.562																																						ENST00000415585.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(1207-1209)Cta>Ata		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa							40.0	33.0	35.0					X																	100087838		2203	4299	6502	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100087838C>A	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1147C>A	X.37:g.100087838C>A	ENSP00000362063:p.Leu383Ile					CSTF2_ENST00000486615.1_3'UTR|CSTF2_ENST00000372972.2_Missense_Mutation_p.L383I	p.L403I			P33240	CSTF2_HUMAN			11	1229	+			383			Gly/Pro-rich.		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.1207C>A	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.506441	0.44558	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.14022	2.54;2.54	5.02	3.24	0.37175	.	0.055575	0.64402	D	0.000002	T	0.13457	0.0326	L	0.48642	1.525	0.29094	N	0.881898	P;P;P	0.44776	0.773;0.843;0.757	B;P;B	0.47346	0.407;0.544;0.293	T	0.08289	-1.0729	10	0.18710	T	0.47	-9.7713	4.7102	0.12868	0.2932:0.5396:0.0:0.1671	.	403;366;383	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	I	403;383;359	ENSP00000387996:L403I;ENSP00000362063:L383I	ENSP00000362063:L383I	L	+	1	2	CSTF2	99974494	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	0.750000	0.26334	0.369000	0.24510	0.506000	0.49869	CTA		0.562	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		7	13	1	0	0.0293803	1	0.0299097	7	13				
EP300	2033	broad.mit.edu	37	22	41569760	41569760	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr22:41569760T>C	ENST00000263253.7	+	29	5970	c.4751T>C	c.(4750-4752)cTa>cCa	p.L1584P	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1584	Binding region for E1A adenovirus.|CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCACAGAAACTATATGCCACC	0.468			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(4750-4752)cTa>cCa		E1A binding protein p300							149.0	157.0	154.0					22																	41569760		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41569760T>C	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4751T>C	22.37:g.41569760T>C	ENSP00000263253:p.Leu1584Pro					RP1-85F18.6_ENST00000415054.1_RNA	p.L1584P	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			29	5970	+			1584			Binding region for E1A adenovirus.		B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4751T>C	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045638	0.75846	.	.	ENSG00000100393	ENST00000263253	D	0.95137	-3.62	5.52	5.52	0.82312	.	0.000000	0.36815	N	0.002391	D	0.97679	0.9239	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98643	1.0676	10	0.87932	D	0	-9.2173	15.643	0.77020	0.0:0.0:0.0:1.0	.	1584	Q09472	EP300_HUMAN	P	1584	ENSP00000263253:L1584P	ENSP00000263253:L1584P	L	+	2	0	EP300	39899706	1.000000	0.71417	0.920000	0.36463	0.997000	0.91878	7.953000	0.87836	2.094000	0.63399	0.533000	0.62120	CTA		0.468	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		69	166	0	0	0	1	0	69	166				
ATP13A3	79572	broad.mit.edu	37	3	194149619	194149619	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:194149619A>G	ENST00000439040.1	-	28	3693	c.2902T>C	c.(2902-2904)Ttt>Ctt	p.F968L	ATP13A3_ENST00000256031.4_Missense_Mutation_p.F968L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	968						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATGAAGAGAAACTGGAAGTCT	0.294																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2902-2904)Ttt>Ctt		ATPase type 13A3							59.0	55.0	56.0					3																	194149619		1809	4066	5875	SO:0001583	missense	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194149619A>G	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.2902T>C	3.37:g.194149619A>G	ENSP00000416508:p.Phe968Leu					ATP13A3_ENST00000256031.4_Missense_Mutation_p.F968L	p.F968L			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	28	3693	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	968					Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	c.2902T>C	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	A	32	5.177004	0.94846	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.86366	-2.11;-2.11	5.63	5.63	0.86233	.	0.048187	0.85682	D	0.000000	D	0.90219	0.6942	L	0.58810	1.83	0.80722	D	1	D	0.60160	0.987	P	0.56648	0.803	D	0.90729	0.4641	10	0.56958	D	0.05	-0.4031	15.3339	0.74234	1.0:0.0:0.0:0.0	.	968	Q9H7F0	AT133_HUMAN	L	968	ENSP00000416508:F968L;ENSP00000256031:F968L	ENSP00000256031:F968L	F	-	1	0	ATP13A3	195630908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.903000	0.92573	2.279000	0.76181	0.533000	0.62120	TTT		0.294	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		6	12	0	0	0	1	0	6	12				
STX1B	112755	broad.mit.edu	37	16	31012508	31012508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr16:31012508C>A	ENST00000215095.5	-	3	343	c.112G>T	c.(112-114)Gag>Tag	p.E38*	STX1B_ENST00000565419.1_Nonsense_Mutation_p.E38*	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B	38					intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						CCCCGGATCTCTTCCACCTGG	0.577																																						ENST00000215095.5																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						c.(112-114)Gag>Tag		syntaxin 1B							55.0	50.0	52.0					16																	31012508		2197	4300	6497	SO:0001587	stop_gained	112755				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity	g.chr16:31012508C>A	AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"""syntaxin 1B1"", ""syntaxin 1B2"""	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.112G>T	16.37:g.31012508C>A	ENSP00000215095:p.Glu38*					STX1B_ENST00000565419.1_Nonsense_Mutation_p.E38*	p.E38*	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN			3	343	-			38					Q15531|Q2VPS2	Nonsense_Mutation	SNP	ENST00000215095.5	37	c.112G>T	CCDS10699.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.358794	0.61403	.	.	ENSG00000099365	ENST00000215095	.	.	.	4.62	4.62	0.57501	.	0.058002	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	16.3745	0.83381	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000215095:E38X	E	-	1	0	STX1B	30920009	1.000000	0.71417	1.000000	0.80357	0.532000	0.34746	7.482000	0.81143	2.412000	0.81896	0.561000	0.74099	GAG		0.577	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255521.2			13	18	1	0	0.0135373	1	0.0140341	13	18				
PCSK6	5046	broad.mit.edu	37	15	101906469	101906469	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr15:101906469T>C	ENST00000348070.1	-	14	1786	c.1787A>G	c.(1786-1788)aAg>aGg	p.K596R	PCSK6_ENST00000358417.3_Missense_Mutation_p.K596R|PCSK6_ENST00000398181.2_Missense_Mutation_p.K596R|PCSK6_ENST00000331826.7_Missense_Mutation_p.K431R|PCSK6_ENST00000344273.2_Missense_Mutation_p.K596R|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	597					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCTTCAGCCTTTTCTCCCCA	0.507																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1786-1788)aAg>aGg		proprotein convertase subtilisin/kexin type 6							79.0	78.0	78.0					15																	101906469		1920	4129	6049	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101906469T>C		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1787A>G	15.37:g.101906469T>C	ENSP00000305056:p.Lys596Arg					PCSK6_ENST00000358417.3_Missense_Mutation_p.K596R|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Missense_Mutation_p.K431R|PCSK6_ENST00000344273.2_Missense_Mutation_p.K596R|PCSK6_ENST00000398181.2_Missense_Mutation_p.K596R	p.K596R	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		14	1786	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		597			Homo B/P.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1787A>G		.	.	.	.	.	.	.	.	.	.	T	9.967	1.224481	0.22457	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0	5.1	3.97	0.46021	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.376252	0.28665	N	0.014556	T	0.49167	0.1541	N	0.11064	0.09	0.32543	N	0.533386	B;P;B;B;B;B;B;B;B	0.34934	0.018;0.476;0.009;0.003;0.004;0.004;0.004;0.007;0.011	B;B;B;B;B;B;B;B;B	0.29267	0.021;0.1;0.018;0.005;0.009;0.009;0.013;0.017;0.03	T	0.55192	-0.8179	10	0.26408	T	0.33	-15.7421	7.614	0.28148	0.0:0.1863:0.0:0.8137	.	597;428;597;597;596;596;597;597;596	P29122;Q59H04;P29122-2;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	R	596;596;427;596;596;431	ENSP00000305056:K596R;ENSP00000351193:K596R;ENSP00000344410:K596R;ENSP00000381243:K596R;ENSP00000332052:K431R	ENSP00000332052:K431R	K	-	2	0	PCSK6	99723992	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.221000	0.42917	0.771000	0.33359	0.533000	0.62120	AAG		0.507	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		3	42	0	0	0	1	0	3	42				
ABCG4	64137	broad.mit.edu	37	11	119031072	119031072	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:119031072G>A	ENST00000449422.2	+	13	1761	c.1573G>A	c.(1573-1575)Gga>Aga	p.G525R	ABCG4_ENST00000531739.1_Missense_Mutation_p.G525R|ABCG4_ENST00000307417.3_Missense_Mutation_p.G525R	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	525	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTGCTGATCGGAGCTGCTTC	0.642																																						ENST00000307417.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44						c.(1573-1575)Gga>Aga		ATP-binding cassette, sub-family G (WHITE), member 4							46.0	48.0	47.0					11																	119031072		2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119031072G>A	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1573G>A	11.37:g.119031072G>A	ENSP00000406874:p.Gly525Arg					ABCG4_ENST00000531739.1_Missense_Mutation_p.G525R|ABCG4_ENST00000449422.2_Missense_Mutation_p.G525R	p.G525R	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	13	1937	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	525			ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1573G>A	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424151	0.96111	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.74315	-0.83;-0.83;-0.83	5.2	5.2	0.72013	ABC-2 type transporter (1);	0.144815	0.64402	D	0.000006	D	0.90553	0.7039	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.93014	0.6434	10	0.87932	D	0	-2.5061	18.9923	0.92798	0.0:0.0:1.0:0.0	.	525	Q9H172	ABCG4_HUMAN	R	525	ENSP00000304111:G525R;ENSP00000406874:G525R;ENSP00000434318:G525R	ENSP00000304111:G525R	G	+	1	0	ABCG4	118536282	1.000000	0.71417	0.876000	0.34364	0.984000	0.73092	9.648000	0.98483	2.720000	0.93068	0.558000	0.71614	GGA		0.642	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		32	47	0	0	0	1	0	32	47				
OR6K3	391114	broad.mit.edu	37	1	158687883	158687883	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:158687883G>A	ENST00000368146.1	-	1	70	c.71C>T	c.(70-72)aCa>aTa	p.T24I	OR6K3_ENST00000368145.1_Missense_Mutation_p.T8I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	24						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(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TTCAGTCACTGTTGATTGGTT	0.378																																						ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(70-72)aCa>aTa		olfactory receptor, family 6, subfamily K, member 3							52.0	51.0	51.0					1																	158687883		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687883G>A	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.71C>T	1.37:g.158687883G>A	ENSP00000357128:p.Thr24Ile					OR6K3_ENST00000368145.1_Missense_Mutation_p.T8I	p.T24I			Q8NGY3	OR6K3_HUMAN			1	70	-	all_hematologic(112;0.0378)		24					Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.71C>T		.	.	.	.	.	.	.	.	.	.	G	11.64	1.700014	0.30142	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.19394	2.15;2.15	3.89	0.862	0.19056	.	.	.	.	.	T	0.03053	0.0090	N	0.20807	0.61	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.44590	-0.9318	9	0.27785	T	0.31	.	2.2321	0.03999	0.145:0.2881:0.4203:0.1466	.	24	Q8NGY3	OR6K3_HUMAN	I	8;24	ENSP00000357127:T8I;ENSP00000357128:T24I	ENSP00000357127:T8I	T	-	2	0	OR6K3	156954507	0.000000	0.05858	0.002000	0.10522	0.542000	0.35054	-0.677000	0.05215	0.077000	0.16863	0.440000	0.28878	ACA		0.378	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				20	58	0	0	0	1	0	20	58				
MYOD1	4654	broad.mit.edu	37	11	17741780	17741780	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:17741780C>T	ENST00000250003.3	+	1	666	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	151	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						GGAGATCCTGCGCAACGCCAT	0.667																																						ENST00000250003.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						c.(451-453)Cgc>Tgc		myogenic differentiation 1							41.0	32.0	35.0					11																	17741780		2200	4293	6493	SO:0001583	missense	4654				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr11:17741780C>T	AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"""Basic helix-loop-helix proteins"""	7611	protein-coding gene	gene with protein product	"""myoblast determination protein 1"""	159970	"""myogenic factor 3"""	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.451C>T	11.37:g.17741780C>T	ENSP00000250003:p.Arg151Cys						p.R151C	NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN			1	666	+			151			Helix-loop-helix motif.		O75321	Missense_Mutation	SNP	ENST00000250003.3	37	c.451C>T	CCDS7826.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.339102	0.81911	.	.	ENSG00000129152	ENST00000250003	D	0.98280	-4.84	4.88	3.97	0.46021	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98432	0.9478	H	0.97465	4.01	0.80722	D	1	B	0.22414	0.069	B	0.23150	0.044	D	0.98457	1.0594	10	0.87932	D	0	-21.978	13.2365	0.59972	0.0:0.9233:0.0:0.0767	.	151	P15172	MYOD1_HUMAN	C	151	ENSP00000250003:R151C	ENSP00000250003:R151C	R	+	1	0	MYOD1	17698356	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.646000	0.37249	1.291000	0.44653	0.561000	0.74099	CGC		0.667	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1	NM_002478		7	37	0	0	0	1	0	7	37				
OR11A1	26531	broad.mit.edu	37	6	29394621	29394621	+	Silent	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr6:29394621G>T	ENST00000377149.1	-	5	1270	c.798C>A	c.(796-798)gtC>gtA	p.V266V	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Silent_p.V266V|OR11A1_ENST00000377148.1_Silent_p.V266V			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GCTGGGAATGGACAGCAGAGG	0.512																																						ENST00000377149.1																			0				cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(796-798)gtC>gtA		olfactory receptor, family 11, subfamily A, member 1							155.0	142.0	147.0					6																	29394621		1511	2708	4219	SO:0001819	synonymous_variant	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29394621G>T		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.798C>A	6.37:g.29394621G>T						OR11A1_ENST00000377148.1_Silent_p.V266V|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Silent_p.V266V	p.V266V			Q9GZK7	O11A1_HUMAN			5	1270	-			266					A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Silent	SNP	ENST00000377149.1	37	c.798C>A	CCDS34363.1																																																																																				0.512	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			18	66	1	0	6.94344e-10	1	7.92534e-10	18	66				
KCNQ5	56479	broad.mit.edu	37	6	73900322	73900322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr6:73900322G>A	ENST00000370398.1	+	12	1713	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q	KCNQ5_ENST00000342056.2_Missense_Mutation_p.R554Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R526Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R545Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R535Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R536Q|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R425Q	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	535					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GTTGCAAAACGGAAGTTTAAG	0.289																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1660-1662)cGg>cAg		potassium voltage-gated channel, KQT-like subfamily, member 5							77.0	68.0	71.0					6																	73900322		2203	4300	6503	SO:0001583	missense	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73900322G>A	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1604G>A	6.37:g.73900322G>A	ENSP00000359425:p.Arg535Gln					KCNQ5_ENST00000355194.4_Missense_Mutation_p.R535Q|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R535Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R545Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R536Q|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R425Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R526Q	p.R554Q	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	13	2059	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	535					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	c.1661G>A	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685768	0.88639	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99762	-6.67;-6.67;-6.67;-6.67;-6.67;-6.67;-6.67	4.93	4.93	0.64822	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.059611	0.64402	D	0.000003	D	0.99691	0.9883	M	0.78049	2.395	0.25356	N	0.988822	D;D;D;D;D	0.89917	0.996;0.999;1.0;1.0;0.999	P;D;D;D;D	0.80764	0.883;0.935;0.994;0.982;0.961	D	0.98748	1.0719	10	0.62326	D	0.03	.	18.1256	0.89584	0.0:0.0:1.0:0.0	.	425;545;554;526;535	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	Q	554;554;535;535;545;536;526;425	ENSP00000345055:R554Q;ENSP00000347326:R535Q;ENSP00000359425:R535Q;ENSP00000385501:R545Q;ENSP00000347853:R536Q;ENSP00000384453:R526Q;ENSP00000409861:R425Q	ENSP00000345055:R554Q	R	+	2	0	KCNQ5	73957043	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	6.430000	0.73391	2.253000	0.74438	0.643000	0.83706	CGG		0.289	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842		8	20	0	0	0	1	0	8	20				
PTPRT	11122	broad.mit.edu	37	20	40733281	40733281	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr20:40733281G>T	ENST00000373187.1	-	25	3467	c.3468C>A	c.(3466-3468)ttC>ttA	p.F1156L	PTPRT_ENST00000373184.1_Missense_Mutation_p.F1166L|PTPRT_ENST00000373198.4_Missense_Mutation_p.F1175L|PTPRT_ENST00000373201.1_Missense_Mutation_p.F1146L|PTPRT_ENST00000356100.2_Missense_Mutation_p.F1165L|PTPRT_ENST00000373190.1_Missense_Mutation_p.F1155L|PTPRT_ENST00000373193.3_Missense_Mutation_p.F1159L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1156					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGAGAGAACGGAACTCACACA	0.507																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(3532-3534)ttC>ttA		protein tyrosine phosphatase, receptor type, T							124.0	125.0	124.0					20																	40733281		2024	4194	6218	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40733281G>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3468C>A	20.37:g.40733281G>T	ENSP00000362283:p.Phe1156Leu					PTPRT_ENST00000373190.1_Missense_Mutation_p.F1155L|PTPRT_ENST00000373187.1_Missense_Mutation_p.F1156L|PTPRT_ENST00000373201.1_Missense_Mutation_p.F1146L|PTPRT_ENST00000356100.2_Missense_Mutation_p.F1165L|PTPRT_ENST00000373193.3_Missense_Mutation_p.F1159L|PTPRT_ENST00000373184.1_Missense_Mutation_p.F1166L	p.F1178L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			26	3769	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1156			Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.3534C>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097191	0.56075	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.14743	0.0356	N	0.04508	-0.205	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.001	T	0.09037	-1.0693	10	0.26408	T	0.33	.	18.4815	0.90813	0.0:0.0:1.0:0.0	.	1178;1156	O14522-1;O14522	.;PTPRT_HUMAN	L	1155;1156;1159;1165;1178;1166;1146	ENSP00000362286:F1155L;ENSP00000362283:F1156L;ENSP00000362289:F1159L;ENSP00000348408:F1165L;ENSP00000362294:F1178L;ENSP00000362280:F1166L;ENSP00000362297:F1146L	ENSP00000348408:F1165L	F	-	3	2	PTPRT	40166695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.974000	0.56852	2.359000	0.80004	0.655000	0.94253	TTC		0.507	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			22	50	1	0	1.55795e-14	1	1.81493e-14	22	50				
TP53	7157	broad.mit.edu	37	17	7579313	7579313	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:7579313G>A	ENST00000269305.4	-	4	563	c.374C>T	c.(373-375)aCg>aTg	p.T125M	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site_p.T125M|TP53_ENST00000420246.2_Splice_Site_p.T125M|TP53_ENST00000359597.4_Splice_Site_p.T125M|TP53_ENST00000455263.2_Splice_Site_p.T125M|TP53_ENST00000413465.2_Splice_Site_p.T125M	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	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125M(16)|p.0?(8)|p.T125K(6)|p.T125R(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)	GCAACTGACCGTGCAAGTCAC	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		42	Substitution - Missense(25)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(1)	p.T125M(16)|p.0?(8)|p.T125K(6)|p.T125R(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)	large_intestine(8)|upper_aerodigestive_tract(7)|lung(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|central_nervous_system(3)|urinary_tract(3)|breast(2)|stomach(1)|liver(1)|pancreas(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e4+1	Other conserved DNA damage response genes	tumor protein p53							66.0	62.0	63.0					17																	7579313		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.chr17:7579313G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1C>T	17.37:g.7579313G>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice|TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice	p.T125_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)	4	506	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	125		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430623	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	4.75	4.75	0.60458	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	0.99743	0.9898	M	0.70787	2.145	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.994;1.0;0.997;1.0	D;D;D;P;D;D;D	0.97110	1.0;0.956;0.986;0.868;0.985;0.981;1.0	D	0.96893	0.9654	10	0.87932	D	0	-16.188	15.6419	0.77012	0.0:0.0:1.0:0.0	.	86;125;125;125;125;125;125	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	125;125;125;125;125;125;114;125;125	ENSP00000410739:T125M;ENSP00000352610:T125M;ENSP00000269305:T125M;ENSP00000398846:T125M;ENSP00000391127:T125M;ENSP00000391478:T125M;ENSP00000424104:T125M;ENSP00000426252:T125M	ENSP00000269305:T125M	T	-	2	0	TP53	7520038	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.798000	0.85924	2.630000	0.89119	0.655000	0.94253	ACG		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	24	83	0	0	0	1	0	24	83				
SYT16	83851	broad.mit.edu	37	14	62551041	62551041	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr14:62551041G>A	ENST00000430451.2	+	5	1759	c.1562G>A	c.(1561-1563)cGa>cAa	p.R521Q		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	521	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACAACGGGGCGATTATCTGTG	0.537																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1561-1563)cGa>cAa		synaptotagmin XVI							70.0	69.0	69.0					14																	62551041		1977	4150	6127	SO:0001583	missense	83851							g.chr14:62551041G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1562G>A	14.37:g.62551041G>A	ENSP00000394700:p.Arg521Gln						p.R521Q	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	5	1759	+			521			C2 2.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.1562G>A	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	36	5.658758	0.96734	.	.	ENSG00000139973	ENST00000430451	T	0.71934	-0.61	5.44	5.44	0.79542	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83533	0.5275	M	0.77103	2.36	0.80722	D	1	D	0.61697	0.99	P	0.61201	0.885	D	0.84158	0.0427	10	0.56958	D	0.05	-6.6941	19.4718	0.94966	0.0:0.0:1.0:0.0	.	521	Q17RD7	SYT16_HUMAN	Q	521	ENSP00000394700:R521Q	ENSP00000394700:R521Q	R	+	2	0	SYT16	61620794	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.254000	0.95512	2.831000	0.97527	0.643000	0.83706	CGA		0.537	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		17	38	0	0	0	1	0	17	38				
AKAP4	8852	broad.mit.edu	37	X	49957167	49957167	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:49957167T>C	ENST00000376056.2	-	5	2320	c.2170A>G	c.(2170-2172)Aag>Gag	p.K724E	AKAP4_ENST00000376064.3_Missense_Mutation_p.K724E|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.K350E|AKAP4_ENST00000358526.2_Missense_Mutation_p.K733E					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AAATTGGGCTTATTTGCCGAG	0.463																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(2170-2172)Aag>Gag		A kinase (PRKA) anchor protein 4							100.0	70.0	80.0					X																	49957167		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957167T>C	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2170A>G	X.37:g.49957167T>C	ENSP00000365224:p.Lys724Glu					AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.K733E|AKAP4_ENST00000376064.3_Missense_Mutation_p.K724E|AKAP4_ENST00000376058.2_Missense_Mutation_p.K350E	p.K724E			Q5JQC9	AKAP4_HUMAN			5	2320	-	Ovarian(276;0.236)		733						Missense_Mutation	SNP	ENST00000376056.2	37	c.2170A>G	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	T	7.500	0.652450	0.14580	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.06768	3.26;3.26;3.26;3.26	4.82	0.538	0.17150	A-kinase anchor 110kDa, C-terminal (1);	0.551440	0.16471	N	0.212997	T	0.04588	0.0125	N	0.22421	0.69	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.17433	0.018;0.018	T	0.41610	-0.9499	9	.	.	.	.	4.4933	0.11824	0.3217:0.0:0.1624:0.5159	.	733;350	Q5JQC9;A6ND82	AKAP4_HUMAN;.	E	724;350;733;724	ENSP00000365224:K724E;ENSP00000365226:K350E;ENSP00000351327:K733E;ENSP00000365232:K724E	.	K	-	1	0	AKAP4	49843907	0.064000	0.20934	0.001000	0.08648	0.001000	0.01503	1.691000	0.37721	0.490000	0.27771	0.430000	0.28490	AAG		0.463	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		11	32	0	0	0	1	0	11	32				
CSMD3	114788	broad.mit.edu	37	8	113347648	113347648	+	Silent	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr8:113347648A>G	ENST00000297405.5	-	45	7319	c.7075T>C	c.(7075-7077)Ttg>Ctg	p.L2359L	CSMD3_ENST00000352409.3_Silent_p.L2289L|CSMD3_ENST00000343508.3_Silent_p.L2319L|CSMD3_ENST00000455883.2_Silent_p.L2255L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2359	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTGATTCCAAAGCGGTATTG	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7075-7077)Ttg>Ctg		CUB and Sushi multiple domains 3							130.0	118.0	122.0					8																	113347648		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113347648A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7075T>C	8.37:g.113347648A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Silent_p.L2319L|CSMD3_ENST00000352409.3_Silent_p.L2289L|CSMD3_ENST00000455883.2_Silent_p.L2255L	p.L2359L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			45	7319	-			2359			CUB 13.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.7075T>C	CCDS6315.1																																																																																				0.413	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		18	41	0	0	0	1	0	18	41				
ZNF781	163115	broad.mit.edu	37	19	38160804	38160804	+	Silent	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:38160804A>G	ENST00000590008.1	-	5	1098	c.246T>C	c.(244-246)acT>acC	p.T82T	ZNF781_ENST00000593040.1_5'Flank|ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000358582.4_Silent_p.T82T			Q8N8C0	ZN781_HUMAN	zinc finger protein 781	82					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CACTAGTGTGAGTTCTCTTAT	0.388																																						ENST00000358582.4																			0				NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(244-246)acT>acC		zinc finger protein 781							116.0	116.0	116.0					19																	38160804		2203	4300	6503	SO:0001819	synonymous_variant	163115				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38160804A>G	AK097019	CCDS12507.1	19q13.12	2013-01-08				ENSG00000196381		"""Zinc fingers, C2H2-type"""	26745	protein-coding gene	gene with protein product							Standard	NM_152605		Approved	FLJ37549	uc002ogy.2	Q8N8C0		ENST00000590008.1:c.246T>C	19.37:g.38160804A>G						ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Silent_p.T82T	p.T82T	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN			4	994	-			82					Q2VPJ8	Silent	SNP	ENST00000590008.1	37	c.246T>C	CCDS12507.1																																																																																				0.388	ZNF781-002	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000459495.2	NM_152605		30	68	0	0	0	1	0	30	68				
SHROOM3	57619	broad.mit.edu	37	4	77660200	77660200	+	Nonsense_Mutation	SNP	C	C	T	rs202185868		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:77660200C>T	ENST00000296043.6	+	5	1827	c.874C>T	c.(874-876)Cga>Tga	p.R292*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	292					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TACTTCTGCTCGAGGTGGCCT	0.547																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(874-876)Cga>Tga		shroom family member 3							50.0	49.0	49.0					4																	77660200		2203	4300	6503	SO:0001587	stop_gained	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660200C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.874C>T	4.37:g.77660200C>T	ENSP00000296043:p.Arg292*						p.R292*	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	1827	+			292					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Nonsense_Mutation	SNP	ENST00000296043.6	37	c.874C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	45	11.398115	0.99556	.	.	ENSG00000138771	ENST00000296043	.	.	.	6.17	6.17	0.99709	.	0.389024	0.24334	N	0.039431	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.8083	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	292	.	ENSP00000296043:R292X	R	+	1	2	SHROOM3	77879224	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	2.624000	0.46444	2.941000	0.99782	0.655000	0.94253	CGA		0.547	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		12	43	0	0	0	1	0	12	43				
HTR2C	3358	broad.mit.edu	37	X	114141284	114141284	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:114141284C>T	ENST00000276198.1	+	6	1411	c.683C>T	c.(682-684)aCg>aTg	p.T228M	HTR2C_ENST00000371951.1_Missense_Mutation_p.T228M|HTR2C_ENST00000371950.3_Silent_p.D196D	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	228					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATACCGCTGACGATTATGGTG	0.502																																						ENST00000276198.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(682-684)aCg>aTg		5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)						373.0	316.0	336.0					X																	114141284		2203	4300	6503	SO:0001583	missense	3358				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	g.chrX:114141284C>T		CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.683C>T	X.37:g.114141284C>T	ENSP00000276198:p.Thr228Met					HTR2C_ENST00000371950.3_Silent_p.D196D|HTR2C_ENST00000371951.1_Missense_Mutation_p.T228M	p.T228M	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN			6	1411	+			228					B1AMW4|Q5VUF8|Q9NP28	Missense_Mutation	SNP	ENST00000276198.1	37	c.683C>T	CCDS14564.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923438	0.52653	.	.	ENSG00000147246	ENST00000276198;ENST00000371951	T;T	0.37752	1.18;1.18	4.87	3.74	0.42951	GPCR, rhodopsin-like superfamily (1);	0.226336	0.38164	N	0.001794	T	0.44008	0.1273	L	0.51422	1.61	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.35325	-0.9793	10	0.31617	T	0.26	.	4.3412	0.11110	0.0:0.6903:0.0:0.3097	.	228	P28335	5HT2C_HUMAN	M	228	ENSP00000276198:T228M;ENSP00000361019:T228M	ENSP00000276198:T228M	T	+	2	0	HTR2C	114047540	1.000000	0.71417	0.993000	0.49108	0.926000	0.56050	3.862000	0.56009	2.135000	0.66039	0.538000	0.68166	ACG		0.502	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1	NM_000868		123	290	0	0	0	1	0	123	290				
ARGFX	503582	broad.mit.edu	37	3	121305359	121305359	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:121305359T>C	ENST00000334384.3	+	4	870	c.860T>C	c.(859-861)aTg>aCg	p.M287T		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TGGCCCAATATGACAAGCCAA	0.488																																						ENST00000334384.3																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(859-861)aTg>aCg		arginine-fifty homeobox							55.0	57.0	57.0					3																	121305359		2203	4300	6503	SO:0001583	missense	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121305359T>C		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.860T>C	3.37:g.121305359T>C	ENSP00000335578:p.Met287Thr						p.M287T	NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	4	870	+			287						Missense_Mutation	SNP	ENST00000334384.3	37	c.860T>C	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	T	3.345	-0.133731	0.06711	.	.	ENSG00000186103	ENST00000334384	D	0.88741	-2.42	3.05	-2.73	0.05950	.	1.924320	0.02630	N	0.104194	T	0.80138	0.4568	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.65043	-0.6264	10	0.59425	D	0.04	2.4967	3.9235	0.09253	0.0:0.2817:0.4011:0.3172	.	287	A6NJG6	ARGFX_HUMAN	T	287	ENSP00000335578:M287T	ENSP00000335578:M287T	M	+	2	0	ARGFX	122788049	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.040000	0.13905	-0.552000	0.06167	-0.488000	0.04728	ATG		0.488	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		15	40	0	0	0	1	0	15	40				
CCDC158	339965	broad.mit.edu	37	4	77274320	77274320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:77274320G>A	ENST00000388914.3	-	15	2553	c.2401C>T	c.(2401-2403)Cgt>Tgt	p.R801C		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	801										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCTTTCAAACGGCGTTCCTGA	0.353																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(2401-2403)Cgt>Tgt		coiled-coil domain containing 158							117.0	111.0	113.0					4																	77274320		1838	4084	5922	SO:0001583	missense	339965							g.chr4:77274320G>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2401C>T	4.37:g.77274320G>A	ENSP00000373566:p.Arg801Cys						p.R801C	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			15	2553	-			801					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.2401C>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064978	0.55432	.	.	ENSG00000163749	ENST00000388914	T	0.34072	1.38	4.95	4.95	0.65309	.	0.103441	0.42053	D	0.000761	T	0.45538	0.1347	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.49062	-0.8978	10	0.72032	D	0.01	.	15.2105	0.73219	0.0:0.0:1.0:0.0	.	801	Q5M9N0	CD158_HUMAN	C	801	ENSP00000373566:R801C	ENSP00000373566:R801C	R	-	1	0	CCDC158	77493344	0.943000	0.32029	0.998000	0.56505	0.360000	0.29518	4.202000	0.58446	2.575000	0.86900	0.655000	0.94253	CGT		0.353	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		12	36	0	0	0	1	0	12	36				
ATF4	468	broad.mit.edu	37	22	39918110	39918110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr22:39918110G>A	ENST00000337304.2	+	2	1441	c.559G>A	c.(559-561)Gat>Aat	p.D187N	ATF4_ENST00000404241.2_Missense_Mutation_p.D187N|ATF4_ENST00000396680.1_Missense_Mutation_p.D187N	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	187					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CAGTGAAGTGGATATCACTGA	0.502																																						ENST00000337304.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11						c.(559-561)Gat>Aat		activating transcription factor 4							61.0	58.0	59.0					22																	39918110		2203	4300	6503	SO:0001583	missense	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39918110G>A	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.559G>A	22.37:g.39918110G>A	ENSP00000336790:p.Asp187Asn					ATF4_ENST00000396680.1_Missense_Mutation_p.D187N|ATF4_ENST00000404241.2_Missense_Mutation_p.D187N	p.D187N	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN			2	1441	+	Melanoma(58;0.04)		187					Q9UH31	Missense_Mutation	SNP	ENST00000337304.2	37	c.559G>A	CCDS13996.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807795	0.70797	.	.	ENSG00000128272	ENST00000404241;ENST00000337304;ENST00000396680	T;T;T	0.42900	0.96;0.96;0.96	5.06	5.06	0.68205	.	0.047719	0.85682	D	0.000000	T	0.50205	0.1602	M	0.70275	2.135	0.58432	D	0.999996	P	0.35575	0.51	B	0.38985	0.287	T	0.57774	-0.7753	10	0.87932	D	0	-31.4956	18.4337	0.90636	0.0:0.0:1.0:0.0	.	187	P18848	ATF4_HUMAN	N	187	ENSP00000384587:D187N;ENSP00000336790:D187N;ENSP00000379912:D187N	ENSP00000336790:D187N	D	+	1	0	ATF4	38248056	1.000000	0.71417	0.963000	0.40424	0.837000	0.47467	7.577000	0.82486	2.345000	0.79718	0.561000	0.74099	GAT		0.502	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		27	32	0	0	0	1	0	27	32				
PREX1	57580	broad.mit.edu	37	20	47261018	47261018	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr20:47261018C>T	ENST00000371941.3	-	27	3552	c.3530G>A	c.(3529-3531)cGa>cAa	p.R1177Q	PREX1_ENST00000396220.1_Missense_Mutation_p.R1177Q|PREX1_ENST00000496915.1_5'Flank	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1177					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GACCGAGTCTCGATTGCTGTT	0.587																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(3529-3531)cGa>cAa		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							94.0	75.0	81.0					20																	47261018		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47261018C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3530G>A	20.37:g.47261018C>T	ENSP00000361009:p.Arg1177Gln					PREX1_ENST00000371941.3_Missense_Mutation_p.R1177Q	p.R1177Q			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		27	3552	-			1177					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.3530G>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	35	5.484109	0.96307	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.38722	1.12;1.12	5.14	5.14	0.70334	.	0.000000	0.49305	U	0.000154	T	0.63885	0.2549	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61816	-0.6985	10	0.36615	T	0.2	.	18.626	0.91338	0.0:1.0:0.0:0.0	.	1177;474	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	Q	1177	ENSP00000361009:R1177Q;ENSP00000379522:R1177Q	ENSP00000361009:R1177Q	R	-	2	0	PREX1	46694425	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.398000	0.81561	0.655000	0.94253	CGA		0.587	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		13	27	0	0	0	1	0	13	27				
DZIP3	9666	broad.mit.edu	37	3	108391474	108391474	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:108391474G>A	ENST00000361582.3	+	23	2790	c.2560G>A	c.(2560-2562)Gca>Aca	p.A854T	DZIP3_ENST00000463306.1_Missense_Mutation_p.A854T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	854					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CAAACTGAACGCAGAAACTAG	0.393																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(2560-2562)Gca>Aca		DAZ interacting zinc finger protein 3							94.0	88.0	90.0					3																	108391474		2203	4299	6502	SO:0001583	missense	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108391474G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2560G>A	3.37:g.108391474G>A	ENSP00000355028:p.Ala854Thr					DZIP3_ENST00000463306.1_Missense_Mutation_p.A854T	p.A854T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			23	2790	+			854					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	ENST00000361582.3	37	c.2560G>A	CCDS2952.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256406	0.59321	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	D;D	0.84589	-1.87;-1.87	4.48	1.71	0.24356	.	0.252548	0.28317	N	0.015799	T	0.80093	0.4560	L	0.47716	1.5	0.26411	N	0.976263	D;D	0.63046	0.98;0.992	P;P	0.47470	0.548;0.46	T	0.70637	-0.4817	10	0.38643	T	0.18	-5.8321	6.4164	0.21719	0.3113:0.0:0.6887:0.0	.	472;854	D3DN61;Q86Y13	.;DZIP3_HUMAN	T	854	ENSP00000355028:A854T;ENSP00000419981:A854T	ENSP00000355028:A854T	A	+	1	0	DZIP3	109874164	1.000000	0.71417	0.990000	0.47175	0.851000	0.48451	1.254000	0.32897	0.243000	0.21327	-0.137000	0.14449	GCA		0.393	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		18	46	0	0	0	1	0	18	46				
NRP2	8828	broad.mit.edu	37	2	206588569	206588569	+	Missense_Mutation	SNP	C	C	T	rs138033888	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:206588569C>T	ENST00000357785.5	+	5	756	c.725C>T	c.(724-726)aCg>aTg	p.T242M	NRP2_ENST00000360409.3_Missense_Mutation_p.T242M|NRP2_ENST00000412873.2_Missense_Mutation_p.T242M|NRP2_ENST00000272849.3_Missense_Mutation_p.T242M|NRP2_ENST00000357118.4_Missense_Mutation_p.T242M|NRP2_ENST00000417189.1_Missense_Mutation_p.T242M|NRP2_ENST00000355117.4_Missense_Mutation_p.T242M|NRP2_ENST00000540178.1_Missense_Mutation_p.T242M|NRP2_ENST00000540841.1_Missense_Mutation_p.T242M			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CGTTCATCGACGGGGATCCTC	0.527													C|||	4	0.000798722	0.0008	0.0	5008	,	,		19766	0.0		0.001	False		,,,				2504	0.002					ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(724-726)aCg>aTg		neuropilin 2		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	107.0	93.0	98.0		725,725,725,725,725,725	5.9	0.1	2	dbSNP_134	98	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense,missense,missense,missense,missense	NRP2	NM_003872.2,NM_018534.3,NM_201264.1,NM_201266.1,NM_201267.1,NM_201279.1	81,81,81,81,81,81	0,11,6492	TT,TC,CC		0.1047,0.0454,0.0846	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	242/927,242/907,242/556,242/932,242/902,242/910	206588569	11,12995	2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206588569C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.725C>T	2.37:g.206588569C>T	ENSP00000350432:p.Thr242Met					NRP2_ENST00000357785.5_Missense_Mutation_p.T242M|NRP2_ENST00000540178.1_Missense_Mutation_p.T242M|NRP2_ENST00000540841.1_Missense_Mutation_p.T242M|NRP2_ENST00000412873.2_Missense_Mutation_p.T242M|NRP2_ENST00000355117.4_Missense_Mutation_p.T242M|NRP2_ENST00000357118.4_Missense_Mutation_p.T242M|NRP2_ENST00000272849.3_Missense_Mutation_p.T242M|NRP2_ENST00000417189.1_Missense_Mutation_p.T242M	p.T242M	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			5	1516	+			242			CUB 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.725C>T	CCDS46496.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	31	5.078327	0.94000	4.54E-4	0.001047	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.91	5.91	0.95273	CUB (5);	0.042615	0.85682	D	0.000000	T	0.67126	0.2860	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.995;0.997;1.0;0.998;0.998;0.998	T	0.73341	-0.4013	10	0.87932	D	0	-17.7752	20.2963	0.98556	0.0:1.0:0.0:0.0	.	242;242;242;242;242;242	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	M	242	ENSP00000353582:T242M;ENSP00000439658:T242M;ENSP00000439261:T242M;ENSP00000347238:T242M;ENSP00000387519:T242M;ENSP00000349632:T242M;ENSP00000350432:T242M;ENSP00000407626:T242M;ENSP00000272849:T242M	ENSP00000272849:T242M	T	+	2	0	NRP2	206296814	1.000000	0.71417	0.097000	0.21041	0.787000	0.44495	7.818000	0.86416	2.813000	0.96785	0.655000	0.94253	ACG		0.527	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			10	20	0	0	0	1	0	10	20				
NES	10763	broad.mit.edu	37	1	156640278	156640278	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:156640278C>T	ENST00000368223.3	-	4	3834	c.3702G>A	c.(3700-3702)ggG>ggA	p.G1234G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1234	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGGCTGAGGCCCAGGGGCAT	0.637																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(3700-3702)ggG>ggA		nestin							78.0	83.0	81.0					1																	156640278		2203	4300	6503	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640278C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3702G>A	1.37:g.156640278C>T							p.G1234G	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	3834	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1234			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.3702G>A	CCDS1151.1																																																																																				0.637	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		52	121	0	0	0	1	0	52	121				
NID2	22795	broad.mit.edu	37	14	52477629	52477629	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr14:52477629C>T	ENST00000216286.5	-	18	3686	c.3687G>A	c.(3685-3687)gtG>gtA	p.V1229V	NID2_ENST00000541773.1_Silent_p.V1128V	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1229					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CACGGGGATTCACCAGATCTG	0.527																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(3685-3687)gtG>gtA		nidogen 2 (osteonidogen)							124.0	117.0	119.0					14																	52477629		2203	4300	6503	SO:0001819	synonymous_variant	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52477629C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3687G>A	14.37:g.52477629C>T						NID2_ENST00000541773.1_Silent_p.V1128V	p.V1229V	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			18	3686	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1229					A8K6I7|B4DU19|O43710	Silent	SNP	ENST00000216286.5	37	c.3687G>A	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301401	0.23736	.	.	ENSG00000087303	ENST00000556572	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	T	0.72590	0.3479	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69386	-0.5159	4	.	.	.	.	16.2761	0.82644	0.0:0.8324:0.1676:0.0	.	.	.	.	K	498	.	.	E	-	1	0	NID2	51547379	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.683000	0.25349	2.873000	0.98535	0.561000	0.74099	GAA		0.527	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			34	84	0	0	0	1	0	34	84				
ANK2	287	broad.mit.edu	37	4	114254240	114254240	+	Silent	SNP	G	G	A	rs56173868	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:114254240G>A	ENST00000357077.4	+	29	3308	c.3255G>A	c.(3253-3255)gcG>gcA	p.A1085A	ANK2_ENST00000506722.1_Silent_p.A1076A|ANK2_ENST00000509550.1_Silent_p.A261A|ANK2_ENST00000264366.6_Silent_p.A1052A|ANK2_ENST00000394537.3_Silent_p.A1085A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1085	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCACTTTGCGGCCCTTCGAG	0.502													G|||	2	0.000399361	0.0	0.0	5008	,	,		21549	0.0		0.002	False		,,,				2504	0.0					ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(3253-3255)gcG>gcA		ankyrin 2, neuronal							168.0	150.0	156.0					4																	114254240		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114254240G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3255G>A	4.37:g.114254240G>A						ANK2_ENST00000264366.6_Silent_p.A1052A|ANK2_ENST00000394537.3_Silent_p.A1085A|ANK2_ENST00000509550.1_Silent_p.A261A|ANK2_ENST00000506722.1_Silent_p.A1076A	p.A1085A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	29	3308	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1052			Interaction with SPTBN1.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.3255G>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	7.565	0.665603	0.14710	.	.	ENSG00000145362	ENST00000514960	.	.	.	5.63	2.55	0.30701	.	.	.	.	.	T	0.58595	0.2133	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52457	-0.8573	4	.	.	.	.	9.4927	0.38969	0.0:0.2536:0.4737:0.2727	.	.	.	.	S	98	.	.	G	+	1	0	ANK2	114473689	0.005000	0.15991	1.000000	0.80357	0.984000	0.73092	-1.478000	0.02329	0.509000	0.28195	0.655000	0.94253	GGC		0.502	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		62	37	0	0	0	1	0	62	37				
BMS1P20	96610	broad.mit.edu	37	22	22661312	22661312	+	RNA	SNP	T	T	C	rs3855711		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr22:22661312T>C	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		TGAATTTGTGTAGAACTTTGA	0.473																																						ENST00000426066.1																			0																																																			96610							g.chr22:22661312T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661312T>C								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.473	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	47	0	0	0	1	0	3	47				
ARHGEF17	9828	broad.mit.edu	37	11	73064048	73064048	+	Silent	SNP	C	C	T	rs200939752	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:73064048C>T	ENST00000263674.3	+	3	3794	c.3444C>T	c.(3442-3444)ctC>ctT	p.L1148L	ARHGEF17_ENST00000536170.1_3'UTR	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1148	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGCCCTGCTCGTCCAGTCGG	0.657													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17866	0.0		0.0	False		,,,				2504	0.0					ENST00000263674.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(3442-3444)ctC>ctT		Rho guanine nucleotide exchange factor (GEF) 17		C		1,4399	4.2+/-10.8	0,1,2199	51.0	51.0	51.0		3444	-1.4	1.0	11		51	0,8586		0,0,4293	no	coding-synonymous	ARHGEF17	NM_014786.3		0,1,6492	TT,TC,CC		0.0,0.0227,0.0077		1148/2064	73064048	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73064048C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3444C>T	11.37:g.73064048C>T						ARHGEF17_ENST00000536170.1_3'UTR	p.L1148L	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN			3	3794	+			1148			DH.		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.3444C>T	CCDS8221.1																																																																																				0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		19	49	0	0	0	1	0	19	49				
THNSL2	55258	broad.mit.edu	37	2	88474336	88474336	+	Silent	SNP	C	C	T	rs149479181		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:88474336C>T	ENST00000324166.5	+	2	2093	c.402C>T	c.(400-402)caC>caT	p.H134H	THNSL2_ENST00000402102.1_Silent_p.H134H|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000358591.2_Silent_p.H134H|THNSL2_ENST00000377254.3_Silent_p.H134H|THNSL2_ENST00000343544.4_Silent_p.H134H|THNSL2_ENST00000449349.1_Silent_p.H102H	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	134					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GGGAGAAGCACGTCACTGTGG	0.512													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22695	0.0		0.0	False		,,,				2504	0.0					ENST00000324166.5																			0				breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(400-402)caC>caT		threonine synthase-like 2 (S. cerevisiae)		C		1,4405	2.1+/-5.4	0,1,2202	173.0	136.0	148.0		402	1.5	0.6	2	dbSNP_134	148	0,8600		0,0,4300	no	coding-synonymous	THNSL2	NM_018271.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		134/485	88474336	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55258				threonine biosynthetic process		threonine synthase activity	g.chr2:88474336C>T		CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.402C>T	2.37:g.88474336C>T						THNSL2_ENST00000402102.1_Silent_p.H134H|THNSL2_ENST00000343544.4_Silent_p.H134H|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000449349.1_Silent_p.H102H|THNSL2_ENST00000377254.3_Silent_p.H134H|THNSL2_ENST00000358591.2_Silent_p.H134H	p.H134H	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN			2	2093	+			134					B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	37	c.402C>T	CCDS2002.2																																																																																				0.512	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1	NM_018271		14	57	0	0	0	1	0	14	57				
KIAA1211	57482	broad.mit.edu	37	4	57189692	57189692	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:57189692G>T	ENST00000504228.1	+	7	3442	c.3337G>T	c.(3337-3339)Gcc>Tcc	p.A1113S	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A1113S|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A1106S			Q6ZU35	K1211_HUMAN	KIAA1211	1113										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GAGAAAGCAAGCCAGAGAGGC	0.507																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3337-3339)Gcc>Tcc		KIAA1211							71.0	85.0	80.0					4																	57189692		1958	4138	6096	SO:0001583	missense	57482							g.chr4:57189692G>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3337G>T	4.37:g.57189692G>T	ENSP00000423366:p.Ala1113Ser					KIAA1211_ENST00000541073.1_Missense_Mutation_p.A1106S|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A1113S	p.A1113S			Q6ZU35	K1211_HUMAN			7	3442	+	Glioma(25;0.08)|all_neural(26;0.101)		1113					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.3337G>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.101383	0.76983	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.13778	2.61;2.61;2.56	5.5	5.5	0.81552	.	.	.	.	.	T	0.36166	0.0957	M	0.62723	1.935	0.39948	D	0.97449	D;D	0.69078	0.997;0.997	D;D	0.66196	0.942;0.942	T	0.07654	-1.0761	9	0.66056	D	0.02	-5.2529	19.4113	0.94673	0.0:0.0:1.0:0.0	.	1106;1113	F5H1N7;Q6ZU35	.;K1211_HUMAN	S	1113;1113;1106	ENSP00000264229:A1113S;ENSP00000423366:A1113S;ENSP00000444006:A1106S	ENSP00000264229:A1113S	A	+	1	0	KIAA1211	56884449	1.000000	0.71417	0.998000	0.56505	0.637000	0.38172	6.565000	0.73974	2.579000	0.87056	0.563000	0.77884	GCC		0.507	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		9	14	1	0	4.68919e-08	1	5.28143e-08	9	14				
PSMD2	5708	broad.mit.edu	37	3	184019655	184019655	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:184019655C>A	ENST00000310118.4	+	5	1058	c.500C>A	c.(499-501)gCt>gAt	p.A167D	PSMD2_ENST00000435761.1_Missense_Mutation_p.A8D|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000459910.1_3'UTR|PSMD2_ENST00000439383.1_Missense_Mutation_p.A37D	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	167					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GGAGAAGTGGCTAAGGAGTGG	0.552																																					Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(499-501)gCt>gAt		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						66.0	68.0	68.0					3																	184019655		2202	4300	6502	SO:0001583	missense	5708				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184019655C>A	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.500C>A	3.37:g.184019655C>A	ENSP00000310129:p.Ala167Asp					PSMD2_ENST00000435761.1_Missense_Mutation_p.A8D|PSMD2_ENST00000439383.1_Missense_Mutation_p.A37D|PSMD2_ENST00000459910.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	p.A167D	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	1058	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		167					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.500C>A	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683143	0.88542	.	.	ENSG00000175166	ENST00000310118;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.39997	1.43;1.75;1.05	4.69	4.69	0.59074	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.80616	2.505	0.80722	D	1	D;P	0.52996	0.957;0.596	P;B	0.50440	0.641;0.203	T	0.67565	-0.5638	10	0.87932	D	0	-9.5665	17.8158	0.88634	0.0:1.0:0.0:0.0	.	8;167	E9PCS3;Q13200	.;PSMD2_HUMAN	D	167;159;8;37	ENSP00000310129:A167D;ENSP00000402618:A8D;ENSP00000416028:A37D	ENSP00000310129:A167D	A	+	2	0	PSMD2	185502349	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.612000	0.82975	2.432000	0.82394	0.603000	0.83216	GCT		0.552	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		24	59	1	0	3.6726e-16	1	4.36846e-16	24	59				
MYBBP1A	10514	broad.mit.edu	37	17	4445797	4445797	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:4445797C>T	ENST00000254718.4	-	22	3355	c.3049G>A	c.(3049-3051)Gtc>Atc	p.V1017I	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.V1017I			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1017					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ATATGCTGGACCAGGATGGGG	0.632																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(3049-3051)Gtc>Atc		MYB binding protein (P160) 1a							77.0	82.0	80.0					17																	4445797		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4445797C>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3049G>A	17.37:g.4445797C>T	ENSP00000254718:p.Val1017Ile					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.V1017I	p.V1017I			Q9BQG0	MBB1A_HUMAN			22	3355	-			1017					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.3049G>A	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895751	0.33442	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.68624	-0.34;-0.34	5.3	-4.12	0.03916	Armadillo-type fold (1);	1.073890	0.07078	N	0.836641	T	0.47021	0.1423	L	0.33485	1.01	0.09310	N	1	B;B	0.21452	0.034;0.056	B;B	0.23275	0.02;0.045	T	0.30822	-0.9965	10	0.13470	T	0.59	-9.7407	5.6023	0.17361	0.0:0.2267:0.2941:0.4792	.	1017;1017	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	I	1017	ENSP00000370968:V1017I;ENSP00000254718:V1017I	ENSP00000254718:V1017I	V	-	1	0	MYBBP1A	4392546	0.000000	0.05858	0.001000	0.08648	0.082000	0.17680	-0.926000	0.03988	-0.291000	0.09012	0.561000	0.74099	GTC		0.632	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		22	78	0	0	0	1	0	22	78				
TTN	7273	broad.mit.edu	37	2	179537157	179537157	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:179537157T>A	ENST00000591111.1	-	150	34009	c.33785A>T	c.(33784-33786)aAg>aTg	p.K11262M	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K11636M|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.K10335M|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11262	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAGCTTCCTTTTTAGGCAC	0.353																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(34906-34908)aAg>aTg		titin							178.0	182.0	180.0					2																	179537157		1832	4074	5906	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179537157T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33785A>T	2.37:g.179537157T>A	ENSP00000465570:p.Lys11262Met					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.K11262M|TTN_ENST00000342992.6_Missense_Mutation_p.K10335M	p.K11636M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		154	35131	-			11472			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.34907A>T		.	.	.	.	.	.	.	.	.	.	T	11.59	1.684575	0.29872	.	.	ENSG00000155657	ENST00000342992	T	0.70749	-0.51	5.43	3.0	0.34707	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.63414	0.2509	L	0.55213	1.73	0.80722	D	1	P	0.43412	0.806	B	0.38954	0.286	T	0.62969	-0.6741	9	0.87932	D	0	.	9.6936	0.40143	0.0:0.1435:0.0:0.8565	.	11262	Q8WZ42	TITIN_HUMAN	M	10335	ENSP00000343764:K10335M	ENSP00000343764:K10335M	K	-	2	0	TTN	179245402	0.531000	0.26338	0.990000	0.47175	0.855000	0.48748	0.463000	0.21972	0.428000	0.26173	0.528000	0.53228	AAG		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		65	171	0	0	0	1	0	65	171				
MFSD3	113655	broad.mit.edu	37	8	145738640	145738640	+	IGR	SNP	G	G	A	rs377301609		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr8:145738640G>A	ENST00000301327.4	+	0	1548				CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Silent_p.D808D|RECQL4_ENST00000532237.1_5'UTR	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGGCTGCCCGTCACGCCCGG	0.726																																						ENST00000428558.2										"""N, F, S"""						"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(2422-2424)gaC>gaT	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4		G		1,3813		0,1,1906	8.0	11.0	10.0		2425	-9.7	0.2	8		10	0,8116		0,0,4058	no	coding-synonymous	RECQL4	NM_004260.3		0,1,5964	AA,AG,GG		0.0,0.0262,0.0084		808/1209	145738640	1,11929	1907	4058	5965	SO:0001628	intergenic_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145738640G>A		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145738640G>A						RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	p.D808D	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		15	2465	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		808			Helicase C-terminal.			Silent	SNP	ENST00000301327.4	37	c.2424C>T	CCDS6431.1																																																																																				0.726	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		17	25	0	0	0	1	0	17	25				
PCDHB7	56129	broad.mit.edu	37	5	140554045	140554045	+	Missense_Mutation	SNP	C	C	A	rs367613222		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr5:140554045C>A	ENST00000231137.3	+	1	1803	c.1629C>A	c.(1627-1629)agC>agA	p.S543R		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S543R(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGAGCAGCGAGGCGCTGG	0.701																																						ENST00000231137.3																			2	Substitution - Missense(2)	p.S543R(2)	skin(2)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1627-1629)agC>agA									40.0	44.0	43.0					5																	140554045		2201	4298	6499	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554045C>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1629C>A	5.37:g.140554045C>A	ENSP00000231137:p.Ser543Arg						p.S543R	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1803	+			543			Cadherin 5.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1629C>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	c	15.72	2.918239	0.52546	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.54866	0.55	4.3	3.41	0.39046	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.69260	0.3091	M	0.93898	3.47	0.33633	D	0.606314	P	0.41188	0.741	P	0.48982	0.597	T	0.79057	-0.1959	9	0.72032	D	0.01	.	8.4756	0.33012	0.1516:0.7631:0.0:0.0853	.	543	Q9Y5E2	PCDB7_HUMAN	R	543;326	ENSP00000231137:S543R	ENSP00000231137:S543R	S	+	3	2	PCDHB7	140534229	0.608000	0.26966	1.000000	0.80357	0.844000	0.47949	0.139000	0.16036	0.889000	0.36185	0.449000	0.29647	AGC		0.701	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	108	1	0	0.00909568	1	0.00951678	4	108				
C2orf73	129852	broad.mit.edu	37	2	54570915	54570915	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:54570915C>A	ENST00000398634.2	+	3	335	c.293C>A	c.(292-294)tCt>tAt	p.S98Y	C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Missense_Mutation_p.S40Y	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73	98										breast(2)	2						CCTTACGACTCTAAGAGCACC	0.438																																						ENST00000398634.2																			0				breast(2)	2						c.(292-294)tCt>tAt		chromosome 2 open reading frame 73							76.0	77.0	76.0					2																	54570915		1871	4101	5972	SO:0001583	missense	129852							g.chr2:54570915C>A	BC031669, AK097617	CCDS46285.1	2p16.2	2008-07-07			ENSG00000177994	ENSG00000177994			26861	protein-coding gene	gene with protein product						14702039	Standard	NM_001100396		Approved	FLJ40298	uc002rxt.1	Q8N5S3	OTTHUMG00000151826	ENST00000398634.2:c.293C>A	2.37:g.54570915C>A	ENSP00000381631:p.Ser98Tyr					C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Missense_Mutation_p.S40Y	p.S98Y	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN			3	335	+			98					A0AV79|A0AV81|Q8N7V4	Missense_Mutation	SNP	ENST00000398634.2	37	c.293C>A	CCDS46285.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753970	0.31046	.	.	ENSG00000177994	ENST00000486488;ENST00000405749;ENST00000398634;ENST00000447328	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.55	4.66	0.58398	.	0.180420	0.38837	N	0.001553	T	0.14917	0.0360	N	0.03608	-0.345	0.25114	N	0.990695	P;P	0.42649	0.786;0.786	B;B	0.44044	0.342;0.439	T	0.21348	-1.0248	10	0.02654	T	1	-12.5087	13.614	0.62097	0.0:0.8444:0.1556:0.0	.	40;98	B7ZM12;Q8N5S3	.;CB073_HUMAN	Y	104;40;98;40	ENSP00000417971:S104Y;ENSP00000385348:S40Y;ENSP00000381631:S98Y;ENSP00000389570:S40Y	ENSP00000381631:S98Y	S	+	2	0	C2orf73	54424419	0.147000	0.22687	0.994000	0.49952	0.759000	0.43091	1.601000	0.36773	1.538000	0.49270	0.655000	0.94253	TCT		0.438	C2orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324075.2	NM_001100396		10	20	1	0	2.17888e-05	1	2.30106e-05	10	20				
ZNF410	57862	broad.mit.edu	37	14	74360533	74360533	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr14:74360533C>T	ENST00000555044.1	+	3	261	c.67C>T	c.(67-69)Cca>Tca	p.P23S	ZNF410_ENST00000442160.3_Missense_Mutation_p.P23S|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000540593.1_Missense_Mutation_p.P23S|ZNF410_ENST00000556797.1_5'UTR|ZNF410_ENST00000324593.6_Missense_Mutation_p.P23S|ZNF410_ENST00000334521.4_5'UTR|RP5-1021I20.5_ENST00000554009.1_RNA	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	23					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TACGTCCATCCCATTGGGACA	0.438																																						ENST00000555044.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(67-69)Cca>Tca		zinc finger protein 410							127.0	113.0	118.0					14																	74360533		2203	4300	6503	SO:0001583	missense	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74360533C>T	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.67C>T	14.37:g.74360533C>T	ENSP00000451763:p.Pro23Ser					ZNF410_ENST00000556797.1_5'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.P23S|ZNF410_ENST00000324593.6_Missense_Mutation_p.P23S|ZNF410_ENST00000540593.1_Missense_Mutation_p.P23S|ZNF410_ENST00000334521.4_5'UTR|ZNF410_ENST00000412490.3_3'UTR	p.P23S	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	3	261	+			23					B4DDV5|B4DR78|O00153|Q9BQ19	Missense_Mutation	SNP	ENST00000555044.1	37	c.67C>T	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147428	0.94603	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000557495;ENST00000556659;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000556160;ENST00000554797	T;T;T;T	0.19669	2.13;2.57;2.44;2.47	5.78	5.78	0.91487	.	0.000000	0.43110	D	0.000617	T	0.39384	0.1076	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.76494	0.991;0.999;0.995;0.997	P;D;P;P	0.79784	0.766;0.993;0.882;0.829	T	0.12811	-1.0533	10	0.87932	D	0	.	20.0085	0.97443	0.0:1.0:0.0:0.0	.	23;23;23;23	B4DR78;B4DDV5;Q86VK4-3;Q86VK4	.;.;.;ZN410_HUMAN	S	23;23;30;23;23;23;23;23;23	ENSP00000442228:P23S;ENSP00000323293:P23S;ENSP00000407130:P23S;ENSP00000451763:P23S	ENSP00000323293:P23S	P	+	1	0	ZNF410	73430286	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	7.354000	0.79424	2.723000	0.93209	0.650000	0.86243	CCA		0.438	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		10	75	0	0	0	1	0	10	75				
SMG5	23381	broad.mit.edu	37	1	156235606	156235606	+	Silent	SNP	G	G	A	rs185984683		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:156235606G>A	ENST00000361813.5	-	12	1965	c.1821C>T	c.(1819-1821)tgC>tgT	p.C607C	SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	607					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCCCATTGACGCAAGGCCTGT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19585	0.001		0.0	False		,,,				2504	0.0					ENST00000361813.5																			0				NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48						c.(1819-1821)tgC>tgT		SMG5 nonsense mediated mRNA decay factor							121.0	120.0	120.0					1																	156235606		2203	4300	6503	SO:0001819	synonymous_variant	23381				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding	g.chr1:156235606G>A	AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1821C>T	1.37:g.156235606G>A						SMG5_ENST00000368267.4_Intron	p.C607C	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN			12	1965	-	Hepatocellular(266;0.158)		607					D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	c.1821C>T	CCDS1137.1																																																																																				0.572	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327		54	126	0	0	0	1	0	54	126				
FAT1	2195	broad.mit.edu	37	4	187630542	187630542	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:187630542G>A	ENST00000441802.2	-	2	649	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	147	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAGAATAACGGTCTCAAGTC	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(439-441)cCg>cTg		FAT atypical cadherin 1							180.0	188.0	185.0					4																	187630542		2142	4259	6401	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630542G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.440C>T	4.37:g.187630542G>A	ENSP00000406229:p.Pro147Leu	HNSCC(5;0.00058)					p.P147L	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	649	-			147			Cadherin 1.			Missense_Mutation	SNP	ENST00000441802.2	37	c.440C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132472	0.77662	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	D;D	0.84800	-1.9;-1.9	5.1	5.1	0.69264	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.95906	0.8667	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97450	1.0027	10	0.66056	D	0.02	.	18.2894	0.90124	0.0:0.0:1.0:0.0	.	147	Q14517	FAT1_HUMAN	L	147	ENSP00000406229:P147L;ENSP00000423736:P147L	ENSP00000260147:P147L	P	-	2	0	FAT1	187867536	1.000000	0.71417	0.369000	0.25952	0.901000	0.52897	9.657000	0.98554	2.657000	0.90304	0.591000	0.81541	CCG		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		98	80	0	0	0	1	0	98	80				
ATN1	1822	broad.mit.edu	37	12	7047737	7047737	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:7047737A>G	ENST00000356654.4	+	7	2848	c.2611A>G	c.(2611-2613)Aca>Gca	p.T871A	ATN1_ENST00000396684.2_Missense_Mutation_p.T871A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	871					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGCGGTGGCTACAGTGCCCCC	0.617											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2611-2613)Aca>Gca		atrophin 1							57.0	59.0	59.0					12																	7047737		2203	4300	6503	SO:0001583	missense	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7047737A>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2611A>G	12.37:g.7047737A>G	ENSP00000349076:p.Thr871Ala		OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	ATN1_ENST00000396684.2_Missense_Mutation_p.T871A	p.T871A	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			7	2848	+			871					Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	c.2611A>G	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	A	2.263	-0.368804	0.05069	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.38887	1.11;1.11;1.11	4.96	2.57	0.30868	.	0.250769	0.20538	U	0.090366	T	0.17195	0.0413	N	0.04508	-0.205	0.21527	N	0.999658	B	0.23185	0.081	B	0.32724	0.151	T	0.37979	-0.9682	10	0.02654	T	1	.	5.4118	0.16352	0.7017:0.149:0.1494:0.0	.	871	P54259	ATN1_HUMAN	A	871;871;871;456	ENSP00000349076:T871A;ENSP00000379915:T871A;ENSP00000441744:T871A	ENSP00000229279:T456A	T	+	1	0	ATN1	6917998	0.999000	0.42202	0.450000	0.26969	0.714000	0.41099	3.822000	0.55708	0.466000	0.27193	0.529000	0.55759	ACA		0.617	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		22	44	0	0	0	1	0	22	44				
TRO	7216	broad.mit.edu	37	X	54955077	54955077	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:54955077C>T	ENST00000173898.7	+	12	2032	c.1920C>T	c.(1918-1920)cgC>cgT	p.R640R	SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Silent_p.R171R|TRO_ENST00000375041.2_Silent_p.R243R|TRO_ENST00000319167.8_Silent_p.R640R|TRO_ENST00000399736.1_Silent_p.R243R|TRO_ENST00000375022.4_Silent_p.R640R	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	640	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGCAGTACCGCGAGGCAGTGG	0.512																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(1918-1920)cgC>cgT		trophinin							50.0	53.0	52.0					X																	54955077		2101	4226	6327	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955077C>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1920C>T	X.37:g.54955077C>T						TRO_ENST00000375041.2_Silent_p.R243R|TRO_ENST00000319167.8_Silent_p.R640R|TRO_ENST00000375022.4_Silent_p.R640R|TRO_ENST00000420798.2_Silent_p.R171R|TRO_ENST00000399736.1_Silent_p.R243R	p.R640R	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	2032	+			640			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.1920C>T	CCDS43959.1																																																																																				0.512	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		10	66	0	0	0	1	0	10	66				
DHRS11	79154	broad.mit.edu	37	17	34951506	34951506	+	Missense_Mutation	SNP	C	C	T	rs144559068		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:34951506C>T	ENST00000251312.5	+	2	465	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	DHRS11_ENST00000394445.1_3'UTR|DHRS11_ENST00000590554.1_Missense_Mutation_p.R6C	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	85						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						CTCAGCTATCCGTTCTCAGCA	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20735	0.0		0.0	False		,,,				2504	0.0					ENST00000251312.5																			0				endometrium(1)|lung(4)	5						c.(253-255)Cgt>Tgt		dehydrogenase/reductase (SDR family) member 11		C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	154.0	131.0	139.0		253	6.0	1.0	17	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	missense	DHRS11	NM_024308.3	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	85/261	34951506	2,13004	2203	4300	6503	SO:0001583	missense	79154					extracellular region	binding|oxidoreductase activity	g.chr17:34951506C>T		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442	ENST00000251312.5:c.253C>T	17.37:g.34951506C>T	ENSP00000251312:p.Arg85Cys					DHRS11_ENST00000590554.1_Missense_Mutation_p.R6C|DHRS11_ENST00000394445.1_3'UTR	p.R85C	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN			2	465	+			85					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.253C>T	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671571	0.88348	2.27E-4	1.16E-4	ENSG00000108272	ENST00000251312;ENST00000394445	D	0.88586	-2.4	5.97	5.97	0.96955	NAD(P)-binding domain (1);	0.102047	0.64402	D	0.000004	D	0.86698	0.5995	L	0.60067	1.865	0.44702	D	0.997692	B	0.18310	0.027	B	0.15484	0.013	T	0.82454	-0.0449	10	0.56958	D	0.05	-20.1107	12.9174	0.58213	0.2534:0.7466:0.0:0.0	.	85	Q6UWP2	DHR11_HUMAN	C	85	ENSP00000251312:R85C	ENSP00000251312:R85C	R	+	1	0	DHRS11	32025619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.055000	0.64282	2.828000	0.97474	0.655000	0.94253	CGT		0.537	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		24	78	0	0	0	1	0	24	78				
ST5	6764	broad.mit.edu	37	11	8751710	8751710	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:8751710G>T	ENST00000534127.1	-	6	1512	c.1127C>A	c.(1126-1128)tCg>tAg	p.S376*	ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Nonsense_Mutation_p.S376*|ST5_ENST00000357665.1_Nonsense_Mutation_p.S376*	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	376	Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGAACTCTTCGATGGCAGCCG	0.612																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1126-1128)tCg>tAg		suppression of tumorigenicity 5							109.0	111.0	111.0					11																	8751710		2201	4296	6497	SO:0001587	stop_gained	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8751710G>T	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1127C>A	11.37:g.8751710G>T	ENSP00000433528:p.Ser376*					ST5_ENST00000357665.1_Nonsense_Mutation_p.S376*|ST5_ENST00000313726.6_Nonsense_Mutation_p.S376*|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron	p.S376*	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	1512	-			376			Pro-rich.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Nonsense_Mutation	SNP	ENST00000534127.1	37	c.1127C>A	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512643	0.85389	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	.	.	.	5.32	4.41	0.53225	.	0.745603	0.13237	N	0.403192	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	1.0E-4	9.9316	0.41525	0.0911:0.0:0.9089:0.0	.	.	.	.	X	376	.	ENSP00000319678:S376X	S	-	2	0	ST5	8708286	0.932000	0.31603	0.286000	0.24833	0.907000	0.53573	4.084000	0.57650	1.627000	0.50400	0.655000	0.94253	TCG		0.612	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		58	159	1	0	1.39924e-13	1	1.61341e-13	58	159				
RAD51AP1	10635	broad.mit.edu	37	12	4657910	4657910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:4657910C>T	ENST00000544927.1	+	6	474	c.464C>T	c.(463-465)gCa>gTa	p.A155V	RAD51AP1_ENST00000352618.4_Missense_Mutation_p.A155V|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.A37V|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.A172V|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.A172V					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AAAAGAAAAGCAGCATCTAAA	0.423																																						ENST00000228843.9																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13						c.(514-516)gCa>gTa		RAD51 associated protein 1							189.0	189.0	189.0					12																	4657910		2203	4300	6503	SO:0001583	missense	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4657910C>T	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.464C>T	12.37:g.4657910C>T	ENSP00000446296:p.Ala155Val					RAD51AP1_ENST00000544927.1_Missense_Mutation_p.A155V|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.A155V|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.A37V|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.A172V	p.A172V	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		7	565	+			172						Missense_Mutation	SNP	ENST00000544927.1	37	c.515C>T		.	.	.	.	.	.	.	.	.	.	C	24.4	4.529797	0.85706	.	.	ENSG00000111247	ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618;ENST00000544927	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	4.74	4.74	0.60224	.	0.548082	0.19534	N	0.111962	T	0.58148	0.2102	M	0.73217	2.22	0.35846	D	0.826396	D;D;D;P	0.71674	0.998;0.974;0.974;0.775	D;P;P;B	0.80764	0.994;0.595;0.595;0.177	T	0.68161	-0.5482	10	0.72032	D	0.01	-9.8454	13.1019	0.59224	0.0:1.0:0.0:0.0	.	37;172;172;155	B4DUS5;Q96B01;A8K313;Q96B01-2	.;R51A1_HUMAN;.;.	V	172;37;172;155;155	ENSP00000323750:A172V;ENSP00000439960:A37V;ENSP00000228843:A172V;ENSP00000309479:A155V;ENSP00000446296:A155V	ENSP00000228843:A172V	A	+	2	0	RAD51AP1	4528171	0.999000	0.42202	0.990000	0.47175	0.993000	0.82548	2.094000	0.41719	2.457000	0.83068	0.557000	0.71058	GCA		0.423	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	NM_006479		31	65	0	0	0	1	0	31	65				
CCNL1	57018	broad.mit.edu	37	3	156870850	156870850	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:156870850C>T	ENST00000295926.3	-	4	702	c.584G>A	c.(583-585)tGt>tAt	p.C195Y	CCNL1_ENST00000479052.1_5'UTR|Y_RNA_ENST00000364908.1_RNA|CCNL1_ENST00000461804.1_Missense_Mutation_p.C195Y	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	195					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GACATGAACACAAAATCCCAA	0.358																																						ENST00000295926.3																			0				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18						c.(583-585)tGt>tAt		cyclin L1							137.0	123.0	128.0					3																	156870850		2203	4300	6503	SO:0001583	missense	57018				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr3:156870850C>T	AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.584G>A	3.37:g.156870850C>T	ENSP00000295926:p.Cys195Tyr					CCNL1_ENST00000479052.1_5'UTR|CCNL1_ENST00000461804.1_Missense_Mutation_p.C195Y	p.C195Y	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)		4	702	-			195					B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	ENST00000295926.3	37	c.584G>A	CCDS3178.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669452	0.88348	.	.	ENSG00000163660	ENST00000461804;ENST00000295926	T;T	0.41758	0.99;0.99	5.9	5.9	0.94986	Cyclin, N-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.74099	0.3672	M	0.91354	3.2	0.80722	D	1	D;D;D	0.89917	0.983;1.0;1.0	P;D;D	0.85130	0.749;0.997;0.997	T	0.78523	-0.2171	10	0.66056	D	0.02	-14.2781	20.2704	0.98474	0.0:1.0:0.0:0.0	.	195;195;195	Q9UK58-4;Q9UK58;C9JPL0	.;CCNL1_HUMAN;.	Y	195	ENSP00000420277:C195Y;ENSP00000295926:C195Y	ENSP00000295926:C195Y	C	-	2	0	CCNL1	158353544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.380000	0.79704	2.793000	0.96121	0.591000	0.81541	TGT		0.358	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351859.1	NM_020307		30	62	0	0	0	1	0	30	62				
C5AR2	27202	broad.mit.edu	37	19	47844467	47844467	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:47844467C>T	ENST00000595464.1	+	2	629	c.411C>T	c.(409-411)ctC>ctT	p.L137L	C5AR2_ENST00000600626.1_Silent_p.L137L|C5AR2_ENST00000257267.2_Silent_p.L137L	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	137					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										TCCTGGCTCTCGGGCCTGCCT	0.682																																						ENST00000595464.1																			0											c.(409-411)ctC>ctT		complement component 5a receptor 2							75.0	73.0	74.0					19																	47844467		2203	4300	6503	SO:0001819	synonymous_variant	27202							g.chr19:47844467C>T	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.411C>T	19.37:g.47844467C>T						C5AR2_ENST00000600626.1_Silent_p.L137L|C5AR2_ENST00000257267.2_Silent_p.L137L	p.L137L	NM_001271749.1	NP_001258678.1					2	629	+								B2RA09	Silent	SNP	ENST00000595464.1	37	c.411C>T	CCDS12699.1																																																																																				0.682	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485		37	115	0	0	0	1	0	37	115				
STRIP2	57464	broad.mit.edu	37	7	129096483	129096483	+	Splice_Site	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr7:129096483G>T	ENST00000249344.2	+	9	1078	c.1038G>T	c.(1036-1038)agG>agT	p.R346S	STRIP2_ENST00000435494.2_Splice_Site_p.R346S	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	346					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											GCTCTCGAAGGGTATGGACTG	0.562																																						ENST00000249344.2																			0											c.e9+1		striatin interacting protein 2							35.0	29.0	31.0					7																	129096483		2203	4300	6503	SO:0001630	splice_region_variant	57464							g.chr7:129096483G>T	AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog B (yeast)"""		"""family with sequence similarity 40, member B"""	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.1038+1G>T	7.37:g.129096483G>T						STRIP2_ENST00000435494.2_Splice_Site_p.R346_splice	p.R346_splice	NM_020704.2	NP_065755.1					9	1078	+								Q8WUZ4	Splice_Site	SNP	ENST00000249344.2	37	c.1038_splice	CCDS34752.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009029	0.54361	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.48836	0.8;0.8	5.07	4.18	0.49190	.	0.382415	0.28021	N	0.016906	T	0.59985	0.2234	M	0.65498	2.005	0.58432	D	0.999998	D;B	0.62365	0.991;0.132	D;B	0.78314	0.991;0.209	T	0.52845	-0.8521	10	0.12430	T	0.62	-25.2213	10.5155	0.44887	0.0916:0.0:0.9084:0.0	.	346;346	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	S	346	ENSP00000249344:R346S;ENSP00000392393:R346S	ENSP00000249344:R346S	R	+	3	2	FAM40B	128883719	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.059000	0.64306	2.758000	0.94735	0.561000	0.74099	AGG		0.562	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349418.1	NM_001134336	Missense_Mutation	13	21	1	0	2.27111e-07	1	2.49161e-07	13	21				
P2RX3	5024	broad.mit.edu	37	11	57114139	57114139	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:57114139G>A	ENST00000263314.2	+	2	275	c.241G>A	c.(241-243)Gtg>Atg	p.V81M		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	81					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GTCTGATTACGTGACGCCACC	0.562																																						ENST00000263314.2																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						c.(241-243)Gtg>Atg		purinergic receptor P2X, ligand-gated ion channel, 3							119.0	83.0	95.0					11																	57114139		2201	4296	6497	SO:0001583	missense	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57114139G>A	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.241G>A	11.37:g.57114139G>A	ENSP00000263314:p.Val81Met						p.V81M	NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN			2	275	+			81					Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	c.241G>A	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027336	0.75390	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.08546	3.08	4.66	3.73	0.42828	.	0.139919	0.48286	D	0.000200	T	0.33294	0.0858	M	0.89968	3.075	0.43598	D	0.995959	D	0.89917	1.0	D	0.97110	1.0	T	0.27806	-1.0063	10	0.87932	D	0	-19.7782	11.3195	0.49412	0.0:0.0:0.8173:0.1827	.	81	P56373	P2RX3_HUMAN	M	81	ENSP00000263314:V81M	ENSP00000263314:V81M	V	+	1	0	P2RX3	56870715	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	8.420000	0.90256	1.135000	0.42183	0.561000	0.74099	GTG		0.562	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		12	22	0	0	0	1	0	12	22				
ABLIM3	22885	broad.mit.edu	37	5	148577823	148577823	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr5:148577823A>G	ENST00000506113.1	+	3	675	c.193A>G	c.(193-195)Aac>Gac	p.N65D	ABLIM3_ENST00000356541.3_Missense_Mutation_p.N65D|ABLIM3_ENST00000326685.7_Missense_Mutation_p.N65D|ABLIM3_ENST00000309868.7_Missense_Mutation_p.N65D|ABLIM3_ENST00000508983.1_Missense_Mutation_p.N65D|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.N65D|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	65	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTCAAGAACCAGGAGTA	0.572																																						ENST00000506113.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(193-195)Aac>Gac		actin binding LIM protein family, member 3							127.0	115.0	119.0					5																	148577823		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148577823A>G	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.193A>G	5.37:g.148577823A>G	ENSP00000425394:p.Asn65Asp					RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.N65D|ABLIM3_ENST00000356541.3_Missense_Mutation_p.N65D|ABLIM3_ENST00000326685.7_Missense_Mutation_p.N65D|ABLIM3_ENST00000508983.1_Missense_Mutation_p.N65D|ABLIM3_ENST00000504238.1_Missense_Mutation_p.N65D|RP11-331K21.1_ENST00000512647.2_RNA	p.N65D			O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	675	+			65			LIM zinc-binding 1.		A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.193A>G	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509429	0.64522	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	D;D;D;D;D;D	0.85171	-1.95;-1.95;-1.95;-1.95;-1.95;-1.95	5.06	5.06	0.68205	Zinc finger, LIM-type (4);	0.147151	0.64402	D	0.000008	T	0.69691	0.3139	N	0.05619	-0.005	0.53688	D	0.999978	P;P;B	0.39116	0.66;0.66;0.384	B;B;B	0.39379	0.279;0.298;0.245	T	0.72020	-0.4416	10	0.02654	T	1	.	15.1563	0.72746	1.0:0.0:0.0:0.0	.	65;65;65	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	D	65	ENSP00000315841:N65D;ENSP00000348938:N65D;ENSP00000310309:N65D;ENSP00000425394:N65D;ENSP00000421183:N65D;ENSP00000420855:N65D	ENSP00000310309:N65D	N	+	1	0	ABLIM3	148558016	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.203000	0.72137	2.043000	0.60533	0.454000	0.30748	AAC		0.572	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945		27	68	0	0	0	1	0	27	68				
OR6X1	390260	broad.mit.edu	37	11	123624313	123624313	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:123624313C>A	ENST00000327930.2	-	1	940	c.914G>T	c.(913-915)tGc>tTc	p.C305F		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	305						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGTCTTTGGGCAAGTCATTGC	0.393																																						ENST00000327930.2																			0				breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23						c.(913-915)tGc>tTc		olfactory receptor, family 6, subfamily X, member 1							134.0	144.0	141.0					11																	123624313		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624313C>A	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.914G>T	11.37:g.123624313C>A	ENSP00000333724:p.Cys305Phe						p.C305F	NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	940	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	305					B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.914G>T	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.290909	0.00248	.	.	ENSG00000221931	ENST00000327930	T	0.41758	0.99	3.82	0.602	0.17535	.	.	.	.	.	T	0.27765	0.0683	L	0.31420	0.93	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19516	-1.0303	9	0.44086	T	0.13	0.1925	6.4481	0.21887	0.3718:0.3148:0.3134:0.0	.	305	Q8NH79	OR6X1_HUMAN	F	305	ENSP00000333724:C305F	ENSP00000333724:C305F	C	-	2	0	OR6X1	123129523	0.007000	0.16637	0.014000	0.15608	0.058000	0.15608	0.878000	0.28126	-0.059000	0.13154	-0.172000	0.13284	TGC		0.393	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		15	78	1	0	6.31663e-08	1	6.99783e-08	15	78				
PBX4	80714	broad.mit.edu	37	19	19680382	19680382	+	Missense_Mutation	SNP	C	C	A	rs35516996	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:19680382C>A	ENST00000251203.9	-	5	930	c.644G>T	c.(643-645)cGg>cTg	p.R215L		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	215					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GCTGAAATTCCGCCGCTTGCG	0.512																																						ENST00000251203.8																			0				large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						c.(643-645)cGg>cTg		pre-B-cell leukemia homeobox 4							154.0	154.0	154.0					19																	19680382		2203	4300	6503	SO:0001583	missense	80714						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:19680382C>A	AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.644G>T	19.37:g.19680382C>A	ENSP00000251203:p.Arg215Leu						p.R215L	NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN			5	930	-			215					A5D8Y0|B3KUK9	Missense_Mutation	SNP	ENST00000251203.9	37	c.644G>T	CCDS12406.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465467	0.63513	.	.	ENSG00000105717	ENST00000251203	D	0.96200	-3.94	3.55	1.34	0.21922	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.128246	0.53938	D	0.000046	D	0.93527	0.7934	M	0.67953	2.075	0.80722	D	1	P	0.39665	0.682	B	0.42653	0.394	D	0.90051	0.4149	10	0.72032	D	0.01	-29.3164	6.9998	0.24803	0.0:0.7541:0.0:0.2459	.	215	Q9BYU1	PBX4_HUMAN	L	215	ENSP00000251203:R215L	ENSP00000251203:R215L	R	-	2	0	PBX4	19541382	0.969000	0.33509	0.968000	0.41197	0.855000	0.48748	2.459000	0.45023	0.197000	0.20387	-0.452000	0.05504	CGG		0.512	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417784.6			4	252	1	0	0.150653	1	0.151999	4	252				
SLC8B1	80024	broad.mit.edu	37	12	113770537	113770537	+	Silent	SNP	G	G	A	rs267603316		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:113770537G>A	ENST00000552014.1	-	3	662	c.147C>T	c.(145-147)ccC>ccT	p.P49P	SLC8B1_ENST00000553238.1_5'UTR|SLC8B1_ENST00000202831.3_Silent_p.P49P|SLC8B1_ENST00000546737.1_Silent_p.P49P			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	49					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										CGTCTACCACGGGGGTCTGGT	0.542																																						ENST00000552014.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						c.(145-147)ccC>ccT									47.0	44.0	45.0					12																	113770537		2203	4300	6503	SO:0001819	synonymous_variant	80024				response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	g.chr12:113770537G>A	AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.147C>T	12.37:g.113770537G>A						SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Silent_p.P49P|SLC24A6_ENST00000202831.3_Silent_p.P49P	p.P49P			Q6J4K2	NCKX6_HUMAN			3	662	-			49					A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Silent	SNP	ENST00000552014.1	37	c.147C>T	CCDS31909.1																																																																																				0.542	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404830.3	NM_024959		6	20	0	0	0	1	0	6	20				
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	G	rs104894228		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:534286C>G	ENST00000451590.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000417302.1_Missense_Mutation_p.G13R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		88	Substitution - Missense(87)|Insertion - In frame(1)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)	skin(26)|thyroid(17)|urinary_tract(13)|upper_aerodigestive_tract(11)|soft_tissue(8)|lung(5)|salivary_gland(3)|prostate(3)|adrenal_gland(1)|bone(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM060018	HRAS	M	rs104894228	c.(37-39)Ggt>Cgt		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						85.0	80.0	82.0					11																	534286		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534286C>G	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.37G>C	11.37:g.534286C>G	ENSP00000407586:p.Gly13Arg	HNSCC(11;0.0054)				HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R	p.G13R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	224	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> C (in FCSS).|G -> D (in FCSS).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.37G>C	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589995	0.66105	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.967;0.981	D	0.86952	0.2086	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	R	13	ENSP00000380722:G13R;ENSP00000380723:G13R;ENSP00000407586:G13R;ENSP00000388246:G13R;ENSP00000309845:G13R	ENSP00000309845:G13R	G	-	1	0	HRAS	524286	1.000000	0.71417	0.446000	0.26920	0.236000	0.25371	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		25	37	0	0	0	1	0	25	37				
UGT2B28	54490	broad.mit.edu	37	4	70160421	70160421	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:70160421G>T	ENST00000335568.5	+	6	1486	c.1484G>T	c.(1483-1485)gGg>gTg	p.G495V	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	495					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						GATGTGATTGGGTTTCTGCTG	0.453																																						ENST00000335568.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1483-1485)gGg>gTg		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)						100.0	106.0	104.0					4																	70160421		2032	4236	6268	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70160421G>T	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1484G>T	4.37:g.70160421G>T	ENSP00000334276:p.Gly495Val					UGT2B28_ENST00000511240.1_3'UTR	p.G495V	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			6	1486	+			495					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.1484G>T	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	8.326	0.825482	0.16749	.	.	ENSG00000135226	ENST00000335568	T	0.69040	-0.37	1.85	0.88	0.19161	.	0.281103	0.26658	U	0.023175	T	0.71230	0.3315	M	0.70842	2.15	0.80722	D	1	P	0.49185	0.92	P	0.54924	0.764	T	0.68985	-0.5265	10	0.62326	D	0.03	.	7.6052	0.28097	0.0:0.2687:0.7313:0.0	.	495	Q9BY64	UDB28_HUMAN	V	495	ENSP00000334276:G495V	ENSP00000334276:G495V	G	+	2	0	UGT2B28	70195010	0.459000	0.25768	0.699000	0.30290	0.075000	0.17131	0.919000	0.28692	0.075000	0.16796	0.184000	0.17185	GGG		0.453	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		32	86	1	0	7.72975e-29	1	9.29215e-29	32	86				
HCN1	348980	broad.mit.edu	37	5	45353264	45353264	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr5:45353264A>G	ENST00000303230.4	-	5	1372	c.1315T>C	c.(1315-1317)Tac>Cac	p.Y439H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	439					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGCCTTGGTATCTGTGTTCA	0.353																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1315-1317)Tac>Cac		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							154.0	140.0	145.0					5																	45353264		2203	4295	6498	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45353264A>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1315T>C	5.37:g.45353264A>G	ENSP00000307342:p.Tyr439His						p.Y439H	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			5	1372	-			439						Missense_Mutation	SNP	ENST00000303230.4	37	c.1315T>C	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.825067	0.90955	.	.	ENSG00000164588	ENST00000303230	D	0.96830	-4.14	5.97	5.97	0.96955	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000010	D	0.96926	0.8996	M	0.77103	2.36	0.80722	D	1	P	0.49253	0.921	P	0.49451	0.611	D	0.97341	0.9957	10	0.87932	D	0	.	16.4473	0.83942	1.0:0.0:0.0:0.0	.	439	O60741	HCN1_HUMAN	H	439	ENSP00000307342:Y439H	ENSP00000307342:Y439H	Y	-	1	0	HCN1	45389021	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.332000	0.96446	2.281000	0.76405	0.533000	0.62120	TAC		0.353	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		13	29	0	0	0	1	0	13	29				
RNF207	388591	broad.mit.edu	37	1	6266754	6266754	+	Silent	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:6266754G>A	ENST00000377939.4	+	2	286	c.159G>A	c.(157-159)gcG>gcA	p.A53A	RNF207_ENST00000377948.2_5'UTR|RP1-120G22.11_ENST00000455744.1_RNA	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	53						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GTGGCCGCGCGACCGACGGCC	0.682																																						ENST00000377939.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16						c.(157-159)gcG>gcA		ring finger protein 207							35.0	37.0	36.0					1																	6266754		2195	4291	6486	SO:0001819	synonymous_variant	388591					intracellular	zinc ion binding	g.chr1:6266754G>A	AK128246	CCDS59.2	1p36.31	2008-11-19			ENSG00000158286	ENSG00000158286		"""RING-type (C3HC4) zinc fingers"""	32947	protein-coding gene	gene with protein product	"""OTTHUMG00000001089"""		"""chromosome 1 open reading frame 188"""	C1orf188			Standard	NM_207396		Approved	FLJ46380, FLJ32096	uc001amg.3	Q6ZRF8	OTTHUMG00000001089	ENST00000377939.4:c.159G>A	1.37:g.6266754G>A						RNF207_ENST00000377948.2_5'UTR	p.A53A	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)	2	286	+	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)	53					A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2	Silent	SNP	ENST00000377939.4	37	c.159G>A	CCDS59.2																																																																																				0.682	RNF207-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003669.2	NM_207396		11	34	0	0	0	1	0	11	34				
HS3ST3A1	9955	broad.mit.edu	37	17	13400053	13400053	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:13400053G>A	ENST00000284110.1	-	2	1479	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.R26C	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	228					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCCGAGATGCGCGCGGGGGCC	0.637																																						ENST00000284110.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(682-684)Cgc>Tgc		heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1							72.0	93.0	86.0					17																	13400053		2203	4300	6503	SO:0001583	missense	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13400053G>A	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.682C>T	17.37:g.13400053G>A	ENSP00000284110:p.Arg228Cys					HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.R26C	p.R228C	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	2	1479	-		all_lung(20;0.114)	228					A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	c.682C>T	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364280	0.82463	.	.	ENSG00000153976	ENST00000284110	T	0.53423	0.62	5.32	5.32	0.75619	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	T	0.77909	0.4201	H	0.98276	4.19	0.80722	D	1	D	0.56746	0.977	P	0.54270	0.747	D	0.86800	0.1991	10	0.87932	D	0	.	19.4836	0.95020	0.0:0.0:1.0:0.0	.	228	Q9Y663	HS3SA_HUMAN	C	228	ENSP00000284110:R228C	ENSP00000284110:R228C	R	-	1	0	HS3ST3A1	13340778	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.316000	0.65815	2.873000	0.98535	0.563000	0.77884	CGC		0.637	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		28	127	0	0	0	1	0	28	127				
WDFY3	23001	broad.mit.edu	37	4	85642584	85642584	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:85642584C>T	ENST00000295888.4	-	47	7990	c.7583G>A	c.(7582-7584)cGc>cAc	p.R2528H	WDFY3_ENST00000322366.6_Missense_Mutation_p.R2511H	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2528	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTCTAACAGGCGCAGTAAGGT	0.428																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(7531-7533)cGc>cAc		WD repeat and FYVE domain containing 3							207.0	193.0	198.0					4																	85642584		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85642584C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7583G>A	4.37:g.85642584C>T	ENSP00000295888:p.Arg2528His					WDFY3_ENST00000295888.4_Missense_Mutation_p.R2528H	p.R2511H			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	46	7939	-		Hepatocellular(203;0.114)	2528					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.7532G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914565	0.92178	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.72505	-0.59;-0.66;-0.46	5.77	5.77	0.91146	.	0.048220	0.85682	D	0.000000	D	0.84165	0.5412	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84359	0.0537	10	0.87932	D	0	.	20.3559	0.98840	0.0:1.0:0.0:0.0	.	2528	Q8IZQ1	WDFY3_HUMAN	H	2511;2528;131	ENSP00000318466:R2511H;ENSP00000295888:R2528H;ENSP00000424987:R131H	ENSP00000295888:R2528H	R	-	2	0	WDFY3	85861608	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.445000	0.80570	2.890000	0.99128	0.585000	0.79938	CGC		0.428	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		30	76	0	0	0	1	0	30	76				
MTMR6	9107	broad.mit.edu	37	13	25840048	25840048	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr13:25840048C>T	ENST00000381801.5	-	5	1261	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	MTMR6_ENST00000540661.1_Missense_Mutation_p.R167Q	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	167	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GCTTGCTATCCGGGGAACATA	0.373																																						ENST00000381801.5																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36						c.(499-501)cGg>cAg		myotubularin related protein 6							100.0	111.0	107.0					13																	25840048		2203	4300	6503	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25840048C>T	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.500G>A	13.37:g.25840048C>T	ENSP00000371221:p.Arg167Gln					MTMR6_ENST00000540661.1_Missense_Mutation_p.R167Q	p.R167Q	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	5	1261	-		Lung SC(185;0.0225)|Breast(139;0.0351)	167			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.500G>A	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417900	0.25552	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.92699	-3.09;-3.09	5.59	0.724	0.18236	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.405915	0.27012	N	0.021375	D	0.84575	0.5502	L	0.39898	1.24	0.36820	D	0.886366	B;B	0.12013	0.0;0.005	B;B	0.08055	0.003;0.001	T	0.73861	-0.3849	10	0.35671	T	0.21	.	5.2662	0.15601	0.1238:0.5204:0.0:0.3557	.	167;167	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	Q	167	ENSP00000443161:R167Q;ENSP00000371221:R167Q	ENSP00000371221:R167Q	R	-	2	0	MTMR6	24738048	0.884000	0.30299	0.990000	0.47175	0.424000	0.31475	0.294000	0.19047	0.038000	0.15604	-0.300000	0.09419	CGG		0.373	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		17	41	0	0	0	1	0	17	41				
POLD1	5424	broad.mit.edu	37	19	50909674	50909674	+	Missense_Mutation	SNP	G	G	A	rs199700312		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:50909674G>A	ENST00000440232.2	+	12	1447	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	POLD1_ENST00000599857.1_Missense_Mutation_p.R465Q|POLD1_ENST00000595904.1_Missense_Mutation_p.R465Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	465					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTGCTGCTGCGGGAGTACAAG	0.652								DNA polymerases (catalytic subunits)					G|||	1	0.000199681	0.0	0.0	5008	,	,		16285	0.0		0.001	False		,,,				2504	0.0					ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1393-1395)cGg>cAg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							47.0	35.0	39.0					19																	50909674		2202	4297	6499	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50909674G>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1394G>A	19.37:g.50909674G>A	ENSP00000406046:p.Arg465Gln					POLD1_ENST00000595904.1_Missense_Mutation_p.R465Q|POLD1_ENST00000599857.1_Missense_Mutation_p.R465Q	p.R465Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	12	1447	+		all_neural(266;0.0571)	465					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.1394G>A	CCDS12795.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	35	5.460383	0.96240	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.11277	2.79	4.76	4.76	0.60689	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.060775	0.64402	D	0.000006	T	0.37237	0.0996	M	0.87827	2.91	0.80722	D	1	D;D	0.65815	0.995;0.995	D;P	0.64042	0.921;0.893	T	0.42344	-0.9457	10	0.72032	D	0.01	-28.9369	16.9104	0.86139	0.0:0.0:1.0:0.0	.	465;465	E7EVW0;P28340	.;DPOD1_HUMAN	Q	465;466	ENSP00000406046:R465Q	ENSP00000366129:R466Q	R	+	2	0	POLD1	55601486	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.912000	0.92726	2.372000	0.80975	0.655000	0.94253	CGG		0.652	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			3	10	0	0	0	1	0	3	10				
NUMA1	4926	broad.mit.edu	37	11	71724462	71724462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:71724462C>T	ENST00000393695.3	-	15	4418	c.4087G>A	c.(4087-4089)Gct>Act	p.A1363T	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.A1363T|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGGTGCTTAGCTGGCAGCAGC	0.657			T	RARA	APL																																	ENST00000393695.3				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						c.(4087-4089)Gct>Act		nuclear mitotic apparatus protein 1							18.0	19.0	19.0					11																	71724462		2186	4267	6453	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724462C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4087G>A	11.37:g.71724462C>T	ENSP00000377298:p.Ala1363Thr					NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Missense_Mutation_p.A1363T	p.A1363T	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN			15	4418	-			1363						Missense_Mutation	SNP	ENST00000393695.3	37	c.4087G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566604	0.28003	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T	0.12569	2.67;2.67	5.14	2.23	0.28157	.	0.919591	0.09225	N	0.831356	T	0.06508	0.0167	N	0.08118	0	0.09310	N	1	B;B;B;B	0.30973	0.152;0.302;0.13;0.152	B;B;B;B	0.24701	0.053;0.053;0.055;0.053	T	0.33954	-0.9848	10	0.46703	T	0.11	.	5.6076	0.17389	0.0:0.6127:0.1436:0.2437	.	1369;847;1363;1363	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	T	1363;1363;926;332	ENSP00000351851:A1363T;ENSP00000377298:A1363T	ENSP00000351851:A1363T	A	-	1	0	NUMA1	71402110	0.000000	0.05858	0.001000	0.08648	0.944000	0.59088	0.200000	0.17257	0.754000	0.32968	0.655000	0.94253	GCT		0.657	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			11	24	0	0	0	1	0	11	24				
JADE3	9767	broad.mit.edu	37	X	46887486	46887486	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:46887486G>T	ENST00000218343.4	+	6	966	c.668G>T	c.(667-669)tGt>tTt	p.C223F	PHF16_ENST00000397189.1_Missense_Mutation_p.C223F	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGTGATAAGTGTAACGTCTGT	0.493																																						ENST00000218343.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(667-669)tGt>tTt									375.0	226.0	276.0					X																	46887486		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46887486G>T																												ENST00000218343.4:c.668G>T	X.37:g.46887486G>T	ENSP00000218343:p.Cys223Phe					PHF16_ENST00000397189.1_Missense_Mutation_p.C223F	p.C223F	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN			6	966	+			223						Missense_Mutation	SNP	ENST00000218343.4	37	c.668G>T	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605890	0.87157	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	D;D	0.99938	-8.34;-8.34	5.78	5.78	0.91487	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.99964	0.9986	H	0.99668	4.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96349	0.9257	9	.	.	.	.	18.973	0.92722	0.0:0.0:1.0:0.0	.	223	Q92613	JADE3_HUMAN	F	223	ENSP00000380373:C223F;ENSP00000218343:C223F	.	C	+	2	0	PHF16	46772430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.732000	0.98816	2.428000	0.82296	0.594000	0.82650	TGT		0.493	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			12	26	1	0	5.50884e-06	1	5.87263e-06	12	26				
TP53	7157	broad.mit.edu	37	17	7578508	7578508	+	Missense_Mutation	SNP	C	C	A	rs587781288		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:7578508C>A	ENST00000269305.4	-	5	611	c.422G>T	c.(421-423)tGc>tTc	p.C141F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C141F|TP53_ENST00000420246.2_Missense_Mutation_p.C141F|TP53_ENST00000359597.4_Missense_Mutation_p.C141F|TP53_ENST00000455263.2_Missense_Mutation_p.C141F|TP53_ENST00000413465.2_Missense_Mutation_p.C141F	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	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and 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.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(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)	CTGCACAGGGCAGGTCTTGGC	0.572		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"""		121	Substitution - Missense(99)|Whole gene deletion(8)|Deletion - In frame(8)|Deletion - Frameshift(5)|Complex - deletion inframe(1)	p.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(1)	large_intestine(23)|breast(17)|ovary(12)|haematopoietic_and_lymphoid_tissue(7)|oesophagus(7)|liver(7)|upper_aerodigestive_tract(6)|central_nervous_system(6)|endometrium(6)|urinary_tract(6)|lung(5)|prostate(5)|bone(5)|stomach(4)|soft_tissue(2)|biliary_tract(1)|testis(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM993216	TP53	M		c.(421-423)tGc>tTc	Other conserved DNA damage response genes	tumor protein p53							56.0	55.0	55.0					17																	7578508		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578508C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.422G>T	17.37:g.7578508C>A	ENSP00000269305:p.Cys141Phe	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.C141F|TP53_ENST00000445888.2_Missense_Mutation_p.C141F|TP53_ENST00000455263.2_Missense_Mutation_p.C141F|TP53_ENST00000413465.2_Missense_Mutation_p.C141F|TP53_ENST00000359597.4_Missense_Mutation_p.C141F	p.C141F	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	554	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	141		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.422G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655690	0.47467	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.48	4.5	0.54988	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99694	0.9884	M	0.61703	1.905	0.58432	D	0.999999	D;D;P;D;D;D;D	0.89917	1.0;1.0;0.599;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	1.0;0.998;0.662;1.0;0.999;1.0;1.0	D	0.97280	0.9917	10	0.87932	D	0	-26.1094	13.743	0.62860	0.1552:0.8448:0.0:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141F;ENSP00000352610:C141F;ENSP00000269305:C141F;ENSP00000398846:C141F;ENSP00000391127:C141F;ENSP00000391478:C141F;ENSP00000425104:C9F;ENSP00000423862:C48F;ENSP00000424104:C141F	ENSP00000269305:C141F	C	-	2	0	TP53	7519233	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	6.016000	0.70798	1.427000	0.47276	-0.182000	0.12963	TGC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	38	1	0	4.72057e-08	1	5.28143e-08	23	38				
RBMXL2	27288	broad.mit.edu	37	11	7110628	7110628	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:7110628C>T	ENST00000306904.5	+	1	464	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W		NM_014469.4	NP_055284.3	O75526	RMXL2_HUMAN	RNA binding motif protein, X-linked-like 2	93	Arg/Gly/Pro-rich.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGAGAGCAGCCGGCGGGGCCC	0.756																																						ENST00000306904.5																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(277-279)Cgg>Tgg		RNA binding motif protein, X-linked-like 2							7.0	8.0	8.0					11																	7110628		2133	4196	6329	SO:0001583	missense	27288					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr11:7110628C>T	AF069682	CCDS7777.1	11p15	2013-07-16				ENSG00000170748		"""RNA binding motif (RRM) containing"""	17886	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G T"""	605444				10958650	Standard	NM_014469		Approved	HNRNPG-T, HNRPGT	uc001mfc.2	O75526		ENST00000306904.5:c.277C>T	11.37:g.7110628C>T	ENSP00000304139:p.Arg93Trp						p.R93W	NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN		Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	464	+			93			Arg/Gly/Pro-rich.		Q6PEZ2|Q9NQU0	Missense_Mutation	SNP	ENST00000306904.5	37	c.277C>T	CCDS7777.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747921	0.30955	.	.	ENSG00000170748	ENST00000306904	T	0.75260	-0.92	2.38	1.42	0.22433	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	U	0.000000	D	0.83982	0.5372	M	0.88031	2.925	0.39347	D	0.965681	D	0.89917	1.0	D	0.64321	0.924	D	0.83462	0.0054	10	0.52906	T	0.07	.	8.2356	0.31625	0.2394:0.7606:0.0:0.0	.	93	O75526	HNRGT_HUMAN	W	93	ENSP00000304139:R93W	ENSP00000304139:R93W	R	+	1	2	RBMXL2	7067204	1.000000	0.71417	0.876000	0.34364	0.266000	0.26442	1.493000	0.35605	0.512000	0.28257	0.305000	0.20034	CGG		0.756	RBMXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384552.1	NM_014469		12	10	0	0	0	1	0	12	10				
CAPN5	726	broad.mit.edu	37	11	76796060	76796060	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:76796060G>A	ENST00000278559.3	+	2	317	c.128G>A	c.(127-129)gGc>gAc	p.G43D	CAPN5_ENST00000456580.2_Missense_Mutation_p.G43D|CAPN5_ENST00000529629.1_Missense_Mutation_p.G43D|CAPN5_ENST00000531028.1_Missense_Mutation_p.G43D	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	43	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						TACTATAAGGGCACGCCGGGG	0.677																																						ENST00000278559.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						c.(127-129)gGc>gAc		calpain 5							25.0	29.0	28.0					11																	76796060		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76796060G>A		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.128G>A	11.37:g.76796060G>A	ENSP00000278559:p.Gly43Asp					CAPN5_ENST00000456580.2_Missense_Mutation_p.G43D|CAPN5_ENST00000529629.1_Missense_Mutation_p.G43D|CAPN5_ENST00000531028.1_Missense_Mutation_p.G43D	p.G43D	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN			2	317	+			43			Calpain catalytic.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.128G>A	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	G	5.097	0.203504	0.09704	.	.	ENSG00000149260	ENST00000278559;ENST00000527066;ENST00000360841;ENST00000529629;ENST00000456580;ENST00000544318	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.18	1.98	0.26296	Peptidase C2, calpain, catalytic domain (3);	0.414193	0.25291	N	0.031732	T	0.38799	0.1054	N	0.21282	0.65	0.36639	D	0.876721	B;B;B;B	0.29805	0.257;0.046;0.04;0.036	B;B;B;B	0.34536	0.185;0.028;0.102;0.119	T	0.36237	-0.9756	10	0.29301	T	0.29	.	12.6319	0.56663	0.0:0.5493:0.4507:0.0	.	81;43;83;43	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	D	43;43;83;43;43;43	ENSP00000278559:G43D;ENSP00000435894:G43D;ENSP00000432332:G43D;ENSP00000409996:G43D	ENSP00000278559:G43D	G	+	2	0	CAPN5	76473708	0.122000	0.22280	0.257000	0.24404	0.393000	0.30537	1.244000	0.32778	0.526000	0.28541	0.655000	0.94253	GGC		0.677	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		5	37	0	0	0	1	0	5	37				
CCDC180	100499483	broad.mit.edu	37	9	100076680	100076680	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:100076680G>A	ENST00000357054.1	+	20	1949	c.1014G>A	c.(1012-1014)atG>atA	p.M338I	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.M199I|CCDC180_ENST00000375202.2_Missense_Mutation_p.M199I|CCDC180_ENST00000395220.1_Missense_Mutation_p.M338I|CCDC180_ENST00000411667.2_Missense_Mutation_p.M196I|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	338						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGCAGGAAATGGAACCTCTCA	0.522																																						ENST00000375202.2																			0											c.(595-597)atG>atA		coiled-coil domain containing 180							70.0	66.0	67.0					9																	100076680		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100076680G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1014G>A	9.37:g.100076680G>A	ENSP00000349562:p.Met338Ile					RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.M338I|CCDC180_ENST00000411667.2_Missense_Mutation_p.M196I|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.M338I|CCDC180_ENST00000529487.1_Missense_Mutation_p.M199I	p.M199I							20	1949	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.597G>A		.	.	.	.	.	.	.	.	.	.	G	11.95	1.793099	0.31685	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94	4.98	4.08	0.47627	.	0.353602	0.30076	N	0.010480	T	0.21307	0.0513	M	0.67953	2.075	0.34171	D	0.669798	B;B;B	0.28713	0.22;0.077;0.077	B;B;B	0.31751	0.135;0.025;0.025	T	0.17048	-1.0382	10	0.10636	T	0.68	-19.7596	9.7626	0.40541	0.0973:0.0:0.9027:0.0	.	196;338;338	F5H149;B7ZMG3;Q9P1Z9	.;.;CI174_HUMAN	I	338;338;199;196;222;199	ENSP00000349562:M338I;ENSP00000378646:M338I;ENSP00000364348:M199I;ENSP00000414000:M196I;ENSP00000434727:M199I	ENSP00000349562:M338I	M	+	3	0	C9orf174	99116501	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	3.347000	0.52200	1.426000	0.47256	0.563000	0.77884	ATG		0.522	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		13	51	0	0	0	1	0	13	51				
BCAN	63827	broad.mit.edu	37	1	156622194	156622194	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:156622194C>T	ENST00000329117.5	+	8	1788	c.1452C>T	c.(1450-1452)agC>agT	p.S484S	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.S484S	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	484					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CATGGCCCAGCGAGCTCAGCA	0.602																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(1450-1452)agC>agT		brevican							16.0	15.0	15.0					1																	156622194		2203	4299	6502	SO:0001819	synonymous_variant	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156622194C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1452C>T	1.37:g.156622194C>T						BCAN_ENST00000361588.5_Silent_p.S484S|RP11-284F21.7_ENST00000448869.1_RNA	p.S484S	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			8	1788	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		484					D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Silent	SNP	ENST00000329117.5	37	c.1452C>T	CCDS1149.1																																																																																				0.602	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		7	9	0	0	0	1	0	7	9				
NONO	4841	broad.mit.edu	37	X	70517748	70517748	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:70517748G>A	ENST00000276079.8	+	9	1296	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	NONO_ENST00000535149.1_Missense_Mutation_p.R275Q|NONO_ENST00000373856.3_Missense_Mutation_p.R364Q|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.R364Q	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	364	DBHS.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GAAATGATGCGGCGACAGCAG	0.517			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(823-825)cGg>cAg		non-POU domain containing, octamer-binding							91.0	69.0	76.0					X																	70517748		2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70517748G>A	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.1091G>A	X.37:g.70517748G>A	ENSP00000276079:p.Arg364Gln					NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.R364Q|NONO_ENST00000373856.3_Missense_Mutation_p.R364Q|NONO_ENST00000276079.8_Missense_Mutation_p.R364Q	p.R275Q	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			7	1467	+	Renal(35;0.156)		364			DBHS.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.824G>A	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	21.2|21.2	4.107640|4.107640	0.77096|0.77096	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000418921|ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	.|T;T;T;T	.|0.29142	.|1.63;1.58;1.58;1.58	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.050066	.|0.85682	.|D	.|0.000000	T|T	0.28366|0.28366	0.0701|0.0701	L|L	0.40543|0.40543	1.245|1.245	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.53312	.|0.959	.|B	.|0.39299	.|0.296	T|T	0.14587|0.14587	-1.0467|-1.0467	5|10	.|0.87932	.|D	.|0	-11.2943|-11.2943	17.9427|17.9427	0.89030|0.89030	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|364	.|Q15233	.|NONO_HUMAN	S|Q	226|275;364;364;364	.|ENSP00000441364:R275Q;ENSP00000276079:R364Q;ENSP00000362963:R364Q;ENSP00000362947:R364Q	.|ENSP00000276079:R364Q	G|R	+|+	1|2	0|0	NONO|NONO	70434473|70434473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	5.064000|5.064000	0.64338|0.64338	2.427000|2.427000	0.82271|0.82271	0.529000|0.529000	0.55759|0.55759	GGC|CGG		0.517	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		10	28	0	0	0	1	0	10	28				
PHYHD1	254295	broad.mit.edu	37	9	131696336	131696336	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:131696336C>T	ENST00000372592.3	+	6	1248	c.315C>T	c.(313-315)caC>caT	p.H105H	PHYHD1_ENST00000353176.5_Splice_Site_p.H105H|PHYHD1_ENST00000308941.5_Splice_Site_p.H105H|PHYHD1_ENST00000421063.2_Splice_Site_p.H105H	NM_001100876.1	NP_001094346.1	Q5SRE7	PHYD1_HUMAN	phytanoyl-CoA dioxygenase domain containing 1	105							dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						AAATTGGCCACGGTGAGCAGG	0.507																																						ENST00000372592.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						c.e6+1		phytanoyl-CoA dioxygenase domain containing 1							63.0	62.0	62.0					9																	131696336		2203	4300	6503	SO:0001630	splice_region_variant	254295							g.chr9:131696336C>T	BC051300	CCDS6914.1, CCDS43885.1, CCDS43886.1	9q34.13	2010-08-13			ENSG00000175287	ENSG00000175287			23396	protein-coding gene	gene with protein product						12477932	Standard	NM_174933		Approved	MGC16638	uc004bwp.2	Q5SRE7	OTTHUMG00000020764	ENST00000372592.3:c.316+1C>T	9.37:g.131696336C>T						PHYHD1_ENST00000308941.5_Splice_Site_p.H105_splice|PHYHD1_ENST00000421063.2_Splice_Site_p.H105_splice|PHYHD1_ENST00000353176.5_Splice_Site_p.H105_splice	p.H105_splice	NM_001100876.1	NP_001094346.1					6	1248	+								A6PWN9|A6PWP0|B3KT57|B4E3X8|Q5SRE9|Q5SRF0|Q7Z623|Q7Z7P9|Q96GM4	Splice_Site	SNP	ENST00000372592.3	37	c.316_splice	CCDS43885.1																																																																																				0.507	PHYHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054506.2	NM_174933	Silent	21	66	0	0	0	1	0	21	66				
VAV2	7410	broad.mit.edu	37	9	136633698	136633698	+	Missense_Mutation	SNP	C	C	T	rs148033881	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:136633698C>T	ENST00000371850.3	-	29	2486	c.2455G>A	c.(2455-2457)Ggc>Agc	p.G819S	VAV2_ENST00000406606.3_Missense_Mutation_p.G780S|VAV2_ENST00000371851.1_Missense_Mutation_p.G809S	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	819	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		ACAGCTGTGCCGATGACGCGG	0.622													C|||	2	0.000399361	0.0	0.0	5008	,	,		20481	0.0		0.002	False		,,,				2504	0.0					ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(2425-2427)Ggc>Agc		vav 2 guanine nucleotide exchange factor		C	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	69.0	58.0	62.0		2455,2338	5.0	1.0	9	dbSNP_134	62	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	VAV2	NM_001134398.1,NM_003371.3	56,56	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign,benign	819/879,780/840	136633698	4,13002	2203	4300	6503	SO:0001583	missense	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136633698C>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.2455G>A	9.37:g.136633698C>T	ENSP00000360916:p.Gly819Ser					VAV2_ENST00000406606.3_Missense_Mutation_p.G780S|VAV2_ENST00000371850.3_Missense_Mutation_p.G819S	p.G809S			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	27	2750	-			819					A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Missense_Mutation	SNP	ENST00000371850.3	37	c.2425G>A	CCDS48053.1	111	0.050824175824175824	29	0.05894308943089431	7	0.019337016574585635	23	0.04020979020979021	52	0.06860158311345646	C	15.57	2.871738	0.51695	2.27E-4	3.49E-4	ENSG00000160293	ENST00000371850;ENST00000371851;ENST00000406606;ENST00000325440	T;T;D	0.81908	2.3;2.3;-1.55	4.98	4.98	0.66077	Src homology-3 domain (4);	0.047332	0.85682	D	0.000000	T	0.20740	0.0499	N	0.11789	0.175	0.51767	D	0.999938	P;P	0.49447	0.837;0.924	B;P	0.44561	0.138;0.453	T	0.61247	-0.7101	10	0.36615	T	0.2	.	18.227	0.89921	0.0:1.0:0.0:0.0	.	819;780	P52735;P52735-3	VAV2_HUMAN;.	S	819;809;780;809	ENSP00000360916:G819S;ENSP00000360917:G809S;ENSP00000385362:G780S	ENSP00000317258:G809S	G	-	1	0	VAV2	135623519	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	5.825000	0.69286	2.297000	0.77311	0.563000	0.77884	GGC		0.622	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			11	46	0	0	0	1	0	11	46				
KMT2A	4297	broad.mit.edu	37	11	118373361	118373361	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:118373361C>T	ENST00000389506.5	+	27	6745	c.6745C>T	c.(6745-6747)Cca>Tca	p.P2249S	KMT2A_ENST00000354520.4_Missense_Mutation_p.P2211S|KMT2A_ENST00000534358.1_Missense_Mutation_p.P2252S			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2249					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TGTCTTAGGGCCACTGAATTC	0.428																																						ENST00000534358.1																			0											c.(6754-6756)Cca>Tca		lysine (K)-specific methyltransferase 2A							101.0	95.0	97.0					11																	118373361		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118373361C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.6745C>T	11.37:g.118373361C>T	ENSP00000374157:p.Pro2249Ser					KMT2A_ENST00000354520.4_Missense_Mutation_p.P2211S|KMT2A_ENST00000389506.5_Missense_Mutation_p.P2249S	p.P2252S	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	6777	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.6754C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	8.452	0.853305	0.17106	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	T;T;T	0.80738	-1.41;-1.41;-1.38	6.07	1.49	0.22878	.	0.493945	0.23107	N	0.051843	T	0.43411	0.1246	N	0.01048	-1.04	0.23215	N	0.998103	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33420	-0.9869	10	0.12430	T	0.62	.	1.3755	0.02219	0.1503:0.2476:0.1473:0.4548	.	2252;2249	E9PQG7;Q03164	.;MLL1_HUMAN	S	2252;2249;2211;1159	ENSP00000436786:P2252S;ENSP00000374157:P2249S;ENSP00000346516:P2211S	ENSP00000346516:P2211S	P	+	1	0	MLL	117878571	0.001000	0.12720	0.996000	0.52242	0.996000	0.88848	-0.594000	0.05733	0.386000	0.24997	0.655000	0.94253	CCA		0.428	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		13	65	0	0	0	1	0	13	65				
NRBP2	340371	broad.mit.edu	37	8	144917992	144917992	+	Missense_Mutation	SNP	C	C	T	rs370686102		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr8:144917992C>T	ENST00000442628.2	-	17	1574	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K	RP11-299M14.2_ENST00000534006.1_RNA|NRBP2_ENST00000327830.5_Missense_Mutation_p.E236K	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2											central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CAGCGCACCTCGTGGAGGAAG	0.751																																						ENST00000442628.2																			0				central_nervous_system(2)|kidney(1)|large_intestine(2)	5						c.(1435-1437)Gag>Aag		nuclear receptor binding protein 2		C	LYS/GLU	0,4324		0,0,2162	10.0	10.0	10.0		1435	4.0	1.0	8		10	1,8485		0,1,4242	no	missense	NRBP2	NM_178564.3	56	0,1,6404	TT,TC,CC		0.0118,0.0,0.0078	possibly-damaging	479/502	144917992	1,12809	2162	4243	6405	SO:0001583	missense	340371				negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity	g.chr8:144917992C>T	BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.1435G>A	8.37:g.144917992C>T	ENSP00000414055:p.Glu479Lys					NRBP2_ENST00000327830.5_Missense_Mutation_p.E236K	p.E479K	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		17	1574	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		479						Missense_Mutation	SNP	ENST00000442628.2	37	c.1435G>A	CCDS34959.2	.	.	.	.	.	.	.	.	.	.	C	19.38	3.817071	0.70912	0.0	1.18E-4	ENSG00000185189	ENST00000442628;ENST00000327830	T;T	0.34275	4.42;1.37	4.03	4.03	0.46877	.	0.853334	0.10112	N	0.714555	T	0.46073	0.1374	M	0.64997	1.995	0.50632	D	0.999884	P;D;D	0.65815	0.812;0.995;0.972	B;P;P	0.49332	0.149;0.607;0.552	T	0.39603	-0.9606	10	0.37606	T	0.19	-14.4945	13.708	0.62651	0.0:1.0:0.0:0.0	.	479;271;236	Q9NSY0;Q9NSY0-2;D3DWK9	NRBP2_HUMAN;.;.	K	479;236	ENSP00000414055:E479K;ENSP00000330271:E236K	ENSP00000330271:E236K	E	-	1	0	NRBP2	144989980	1.000000	0.71417	0.966000	0.40874	0.251000	0.25915	4.856000	0.62932	2.077000	0.62373	0.585000	0.79938	GAG		0.751	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382247.1	NM_178564		15	9	0	0	0	1	0	15	9				
CASP8	841	broad.mit.edu	37	2	202151283	202151283	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:202151283C>T	ENST00000432109.2	+	10	1595	c.1406C>T	c.(1405-1407)aCa>aTa	p.T469I	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.T385I|CASP8_ENST00000323492.7_Missense_Mutation_p.T454I|CASP8_ENST00000264275.5_Missense_Mutation_p.T486I|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000358485.4_Missense_Mutation_p.T528I	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	469					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTACTTTCACACTAAGAAAA	0.398										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1582-1584)aCa>aTa		caspase 8, apoptosis-related cysteine peptidase							204.0	181.0	189.0					2																	202151283		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202151283C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1406C>T	2.37:g.202151283C>T	ENSP00000412523:p.Thr469Ile	HNSCC(4;0.00038)				CASP8_ENST00000432109.2_Missense_Mutation_p.T469I|CASP8_ENST00000323492.7_Missense_Mutation_p.T454I|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.T486I|CASP8_ENST00000264274.9_Missense_Mutation_p.T385I	p.T528I	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			9	1779	+			469					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.1583C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.498561	0.64298	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.86	5.86	0.93980	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	0.048470	0.85682	D	0.000000	T	0.60495	0.2273	M	0.93197	3.39	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0	D;D;D;D;D	0.77004	0.987;0.989;0.982;0.943;0.989	T	0.70121	-0.4959	10	0.87932	D	0	.	20.1818	0.98206	0.0:1.0:0.0:0.0	.	385;528;469;454;486	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	I	454;385;469;486;528;454;248	ENSP00000376091:T454I;ENSP00000264274:T385I;ENSP00000412523:T469I;ENSP00000264275:T486I;ENSP00000351273:T528I;ENSP00000325722:T454I;ENSP00000394434:T248I	ENSP00000264274:T385I	T	+	2	0	CASP8	201859528	1.000000	0.71417	0.997000	0.53966	0.011000	0.07611	4.888000	0.63164	2.759000	0.94783	0.650000	0.86243	ACA		0.398	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		9	33	0	0	0	1	0	9	33				
MAGI2	9863	broad.mit.edu	37	7	77973170	77973170	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr7:77973170C>T	ENST00000354212.4	-	9	1586	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	MAGI2_ENST00000419488.1_Missense_Mutation_p.E445K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E445K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E282K|MAGI2_ENST00000536571.1_Missense_Mutation_p.E277K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	445	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCATCAGGCTCGTCTCCACCA	0.478																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1333-1335)Gag>Aag		membrane associated guanylate kinase, WW and PDZ domain containing 2							122.0	106.0	112.0					7																	77973170		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77973170C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1333G>A	7.37:g.77973170C>T	ENSP00000346151:p.Glu445Lys					MAGI2_ENST00000522391.1_Missense_Mutation_p.E445K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E282K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E445K|MAGI2_ENST00000536571.1_Missense_Mutation_p.E277K	p.E445K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			9	1586	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	445			PDZ 2.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1333G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	36	5.654438	0.96724	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.81	5.81	0.92471	PDZ/DHR/GLGF (4);	0.000000	0.36854	U	0.002372	T	0.57902	0.2085	L	0.35854	1.095	0.80722	D	1	P;B;D;D;D;D	0.89917	0.878;0.371;1.0;1.0;0.968;0.999	P;B;D;D;P;D	0.87578	0.627;0.311;0.998;0.998;0.699;0.996	T	0.58154	-0.7686	10	0.72032	D	0.01	.	19.0794	0.93175	0.0:1.0:0.0:0.0	.	282;277;445;445;445;445	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	K	445;445;445;445;277;282	ENSP00000405766:E445K;ENSP00000346151:E445K;ENSP00000428389:E445K;ENSP00000441584:E277K;ENSP00000441603:E282K	ENSP00000346151:E445K	E	-	1	0	MAGI2	77811106	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.818000	0.86416	2.746000	0.94184	0.591000	0.81541	GAG		0.478	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		17	36	0	0	0	1	0	17	36				
SEC31A	22872	broad.mit.edu	37	4	83785613	83785613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr4:83785613G>A	ENST00000395310.2	-	11	1518	c.1336C>T	c.(1336-1338)Cag>Tag	p.Q446*	SEC31A_ENST00000443462.2_Nonsense_Mutation_p.Q441*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000432794.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.Q218*|SEC31A_ENST00000500777.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.Q446*	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	446	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACAGCCTGCTGAAGTTGGTCT	0.438																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(1336-1338)Cag>Tag		SEC31 homolog A (S. cerevisiae)							134.0	130.0	131.0					4																	83785613		2203	4300	6503	SO:0001587	stop_gained	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83785613G>A	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1336C>T	4.37:g.83785613G>A	ENSP00000378721:p.Gln446*					SEC31A_ENST00000500777.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000448323.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000443462.2_Nonsense_Mutation_p.Q441*|SEC31A_ENST00000395310.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000348405.4_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000326950.5_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000311785.7_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000264405.5_Nonsense_Mutation_p.Q218*|SEC31A_ENST00000508479.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000513858.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000355196.2_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000509142.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000508502.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000505984.1_Nonsense_Mutation_p.Q446*|SEC31A_ENST00000505472.1_Nonsense_Mutation_p.Q446*	p.Q446*			O94979	SC31A_HUMAN			11	1499	-		Hepatocellular(203;0.114)	446			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Nonsense_Mutation	SNP	ENST00000395310.2	37	c.1336C>T	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.434647|7.434647	0.98282|0.98282	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167|ENST00000507828	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75975	.|0.3923	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74825	.|-0.3533	.|3	0.48119|.	T|.	0.1|.	-9.3051|-9.3051	19.1353|19.1353	0.93426|0.93426	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	446;446;446;441;446;446;446;446;446;446;446;446;446;218;446;446;47|88	.|.	ENSP00000264405:Q218X|.	Q|S	-|-	1|2	0|0	SEC31A|SEC31A	84004637|84004637	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.432000|0.432000	0.31715|0.31715	9.847000|9.847000	0.99503|0.99503	2.507000|2.507000	0.84556|0.84556	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.438	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		18	54	0	0	0	1	0	18	54				
FATE1	89885	broad.mit.edu	37	X	150889866	150889866	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:150889866G>A	ENST00000370350.3	+	3	319		c.e3-1			NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTCTTCAGGGGTCCCAGC	0.542																																						ENST00000370350.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15						c.e3-1		fetal and adult testis expressed 1							75.0	65.0	68.0					X																	150889866		2203	4300	6503	SO:0001630	splice_region_variant	89885					endoplasmic reticulum|integral to membrane		g.chrX:150889866G>A	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"""cancer/testis antigen 43"""	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.235-1G>A	X.37:g.150889866G>A								NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN			3	319	+	Acute lymphoblastic leukemia(192;6.56e-05)								Splice_Site	SNP	ENST00000370350.3	37		CCDS14700.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511449	0.27036	.	.	ENSG00000147378	ENST00000370350	.	.	.	3.69	2.78	0.32641	.	.	.	.	.	.	.	.	.	.	.	0.23876	N	0.996595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3387	0.26625	0.0:0.0:0.7396:0.2604	.	.	.	.	.	-1	.	.	.	+	.	.	FATE1	150640522	0.976000	0.34144	0.037000	0.18230	0.379000	0.30106	1.411000	0.34702	0.878000	0.35920	0.436000	0.28706	.		0.542	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060885.1	NM_033085	Intron	16	42	0	0	0	1	0	16	42				
HOXA7	3204	broad.mit.edu	37	7	27196070	27196070	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr7:27196070G>A	ENST00000242159.3	-	1	228	c.95C>T	c.(94-96)gCt>gTt	p.A32V	RP1-170O19.21_ENST00000602610.1_lincRNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA7_ENST00000523796.2_5'Flank	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	32					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						TGAGTTGGGAGCAAAGGAGCA	0.542																																						ENST00000242159.3																			0				endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						c.(94-96)gCt>gTt		homeobox A7							50.0	65.0	60.0					7																	27196070		2200	4295	6495	SO:0001583	missense	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27196070G>A		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.95C>T	7.37:g.27196070G>A	ENSP00000242159:p.Ala32Val						p.A32V	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN			1	228	-			32					A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	c.95C>T	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678465	0.88542	.	.	ENSG00000122592	ENST00000242159	T	0.36520	1.25	5.32	5.32	0.75619	.	0.133510	0.47852	D	0.000204	T	0.44201	0.1282	M	0.82517	2.595	0.50467	D	0.999879	P	0.40144	0.704	B	0.34536	0.185	T	0.53690	-0.8403	10	0.48119	T	0.1	.	18.9741	0.92728	0.0:0.0:1.0:0.0	.	32	P31268	HXA7_HUMAN	V	32	ENSP00000242159:A32V	ENSP00000242159:A32V	A	-	2	0	HOXA7	27162595	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.987000	0.63857	2.656000	0.90262	0.561000	0.74099	GCT		0.542	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			4	127	0	0	0	1	0	4	127				
ARHGEF19	128272	broad.mit.edu	37	1	16532081	16532081	+	Silent	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:16532081G>A	ENST00000270747.3	-	9	1669	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	511	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGGATAAGGAAGGAGGTAA	0.617																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(1531-1533)ttC>ttT		Rho guanine nucleotide exchange factor (GEF) 19							37.0	34.0	35.0					1																	16532081		2203	4300	6503	SO:0001819	synonymous_variant	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16532081G>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.1533C>T	1.37:g.16532081G>A						ARHGEF19_ENST00000421561.1_Intron|ARHGEF19_ENST00000478117.1_5'UTR	p.F511F	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	9	1669	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	511			DH.		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	ENST00000270747.3	37	c.1533C>T	CCDS170.1	.	.	.	.	.	.	.	.	.	.	G	8.208	0.799762	0.16397	.	.	ENSG00000142632	ENST00000449495	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	T	0.70859	0.3272	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70586	-0.4831	4	.	.	.	.	15.2428	0.73482	0.0:0.0:1.0:0.0	.	.	.	.	F	200	.	.	S	-	2	0	ARHGEF19	16404668	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.825000	0.48096	2.191000	0.70037	0.561000	0.74099	TCC		0.617	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		22	18	0	0	0	1	0	22	18				
NTRK2	4915	broad.mit.edu	37	9	87339194	87339194	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:87339194A>G	ENST00000323115.4	+	7	1129	c.776A>G	c.(775-777)gAc>gGc	p.D259G	NTRK2_ENST00000376208.1_Missense_Mutation_p.D259G|NTRK2_ENST00000277120.3_Missense_Mutation_p.D259G|NTRK2_ENST00000304053.6_Missense_Mutation_p.D259G|NTRK2_ENST00000395866.2_Missense_Mutation_p.D103G|NTRK2_ENST00000395882.1_Missense_Mutation_p.D259G|NTRK2_ENST00000376214.1_Missense_Mutation_p.D259G|NTRK2_ENST00000376213.1_Missense_Mutation_p.D259G|NTRK2_ENST00000359847.3_Missense_Mutation_p.D259G			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	259	Ig-like C2-type 1.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	TCATCCGATGACAGTGGGAAG	0.403										TSP Lung(25;0.17)																												ENST00000304053.6																			0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						c.(775-777)gAc>gGc		neurotrophic tyrosine kinase, receptor, type 2							190.0	179.0	183.0					9																	87339194		2203	4300	6503	SO:0001583	missense	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87339194A>G	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.776A>G	9.37:g.87339194A>G	ENSP00000314586:p.Asp259Gly	TSP Lung(25;0.17)				NTRK2_ENST00000323115.4_Missense_Mutation_p.D259G|NTRK2_ENST00000376214.1_Missense_Mutation_p.D259G|NTRK2_ENST00000376213.1_Missense_Mutation_p.D259G|NTRK2_ENST00000395866.2_Missense_Mutation_p.D103G|NTRK2_ENST00000376208.1_Missense_Mutation_p.D259G|NTRK2_ENST00000359847.3_Missense_Mutation_p.D259G|NTRK2_ENST00000277120.3_Missense_Mutation_p.D259G|NTRK2_ENST00000395882.1_Missense_Mutation_p.D259G	p.D259G	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN			8	1259	+			259			Ig-like C2-type 1.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.776A>G	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982338	0.74474	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	D;D;D;D;D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53;-1.53	5.27	5.27	0.74061	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92893	0.7739	H	0.96208	3.785	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D	0.95069	0.8202	10	0.87932	D	0	.	15.4917	0.75611	1.0:0.0:0.0:0.0	.	103;259;259;259;259;259;305;259	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	G	259;259;259;259;259;259;259;259;103	ENSP00000365387:D259G;ENSP00000365386:D259G;ENSP00000379221:D259G;ENSP00000365381:D259G;ENSP00000306167:D259G;ENSP00000277120:D259G;ENSP00000314586:D259G;ENSP00000352906:D259G;ENSP00000379207:D103G	ENSP00000277120:D259G	D	+	2	0	NTRK2	86529014	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.708000	0.84633	2.123000	0.65237	0.377000	0.23210	GAC		0.403	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			29	130	0	0	0	1	0	29	130				
NUP107	57122	broad.mit.edu	37	12	69115632	69115632	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:69115632C>T	ENST00000229179.4	+	16	1655	c.1323C>T	c.(1321-1323)gtC>gtT	p.V441V	NUP107_ENST00000378905.2_Silent_p.V290V|NUP107_ENST00000539906.1_Silent_p.V412V	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	441					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|structural constituent of nuclear pore (GO:0017056)		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TGCTTCCTGTCTGTGACACCT	0.418																																						ENST00000229179.4																		NUP107/LGR5(2)	0				breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(1321-1323)gtC>gtT		nucleoporin 107kDa							95.0	96.0	96.0					12																	69115632		2203	4300	6503	SO:0001819	synonymous_variant	57122				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr12:69115632C>T	AK055629	CCDS8985.1	12q14	2004-03-19			ENSG00000111581	ENSG00000111581			29914	protein-coding gene	gene with protein product		607617				12552102, 12705868	Standard	XM_005269037		Approved	NUP84	uc001suf.3	P57740	OTTHUMG00000169265	ENST00000229179.4:c.1323C>T	12.37:g.69115632C>T						NUP107_ENST00000378905.2_Silent_p.V290V|NUP107_ENST00000539906.1_Silent_p.V412V	p.V441V	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)		16	1655	+	Breast(13;6.25e-06)		441					B4DZ67|Q6PJE1	Silent	SNP	ENST00000229179.4	37	c.1323C>T	CCDS8985.1																																																																																				0.418	NUP107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403195.1	NM_020401		21	39	0	0	0	1	0	21	39				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*	p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	508	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		16	14	0	0	0	1	0	16	14				
XRCC3	7517	broad.mit.edu	37	14	104174902	104174902	+	Silent	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr14:104174902C>T	ENST00000553264.1	-	3	946	c.150G>A	c.(148-150)ctG>ctA	p.L50L	XRCC3_ENST00000352127.7_Silent_p.L50L|XRCC3_ENST00000554974.1_Intron|XRCC3_ENST00000554913.1_Silent_p.L50L|XRCC3_ENST00000445556.1_Silent_p.L50L|XRCC3_ENST00000555055.1_Silent_p.L50L|AL049840.1_ENST00000429169.1_5'Flank			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3	50					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		AGGCCGTTCTCAGCAAGTGCC	0.547								Direct reversal of damage;Homologous recombination																														ENST00000553264.1																			0				endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4						c.(148-150)ctG>ctA	Direct reversal of damage;Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 3							107.0	92.0	97.0					14																	104174902		2203	4300	6503	SO:0001819	synonymous_variant	7517				DNA recombination|DNA repair	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr14:104174902C>T	AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"""RAD51-like"""	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.150G>A	14.37:g.104174902C>T						XRCC3_ENST00000554913.1_Silent_p.L50L|XRCC3_ENST00000555055.1_Silent_p.L50L|XRCC3_ENST00000445556.1_Silent_p.L50L|XRCC3_ENST00000352127.7_Silent_p.L50L|XRCC3_ENST00000554974.1_Intron	p.L50L			O43542	XRCC3_HUMAN		Epithelial(152;0.239)	3	946	-		Melanoma(154;0.155)|all_epithelial(191;0.19)	50					O43568|Q9BU18	Silent	SNP	ENST00000553264.1	37	c.150G>A	CCDS9984.1																																																																																				0.547	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414631.1	NM_005432		17	25	0	0	0	1	0	17	25				
CHRNE	1145	broad.mit.edu	37	17	4799584	4799584	+	IGR	SNP	C	C	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:4799584C>A	ENST00000293780.4	-	0	2455				MINK1_ENST00000453408.3_Missense_Mutation_p.H1168N|MINK1_ENST00000355280.6_Missense_Mutation_p.H1188N|MINK1_ENST00000347992.7_Missense_Mutation_p.H1159N	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12					Galantamine(DB00674)	TGCTGGCTTCCATGCTGTGGA	0.632											OREG0024107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(3562-3564)Cat>Aat		misshapen-like kinase 1							102.0	120.0	114.0					17																	4799584		2163	4265	6428	SO:0001628	intergenic_variant	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4799584C>A	X66403	CCDS11058.1	17p13.2	2012-02-11	2012-02-07		ENSG00000108556	ENSG00000108556		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1966	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, epsilon (muscle)"""	100725	"""cholinergic receptor, nicotinic, epsilon"""			7688301	Standard	NM_000080		Approved	ACHRE	uc002fzk.1	Q04844	OTTHUMG00000090778		17.37:g.4799584C>A			OREG0024107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	621	MINK1_ENST00000453408.3_Missense_Mutation_p.H1168N|MINK1_ENST00000347992.7_Missense_Mutation_p.H1159N	p.H1188N	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			29	3758	+			1188			CNH.|Mediates interaction with RAP2A.		D3DTK6	Missense_Mutation	SNP	ENST00000293780.4	37	c.3562C>A	CCDS11058.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534782	0.64972	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992;ENST00000542906	T;T;T	0.04809	3.55;3.55;3.55	4.71	4.71	0.59529	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	M	0.86740	2.835	0.58432	D	0.999999	D;P;D;P	0.56287	0.975;0.908;0.968;0.908	D;P;D;P	0.68192	0.956;0.888;0.954;0.888	T	0.01956	-1.1240	10	0.87932	D	0	.	15.2058	0.73177	0.0:1.0:0.0:0.0	.	1151;1168;1188;1159	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	N	1188;1168;1159;148	ENSP00000347427:H1188N;ENSP00000406487:H1168N;ENSP00000269296:H1159N	ENSP00000269296:H1159N	H	+	1	0	MINK1	4740360	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	7.600000	0.82769	2.436000	0.82500	0.561000	0.74099	CAT		0.632	CHRNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207560.3			38	96	1	0	5.04308e-16	1	5.93612e-16	38	96				
KIAA1683	80726	broad.mit.edu	37	19	18368707	18368707	+	Silent	SNP	C	C	T	rs535880358		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:18368707C>T	ENST00000600328.3	-	4	3019	c.2826G>A	c.(2824-2826)gcG>gcA	p.A942A	KIAA1683_ENST00000600359.3_Silent_p.A896A|PDE4C_ENST00000596647.1_5'Flank|PDE4C_ENST00000355502.3_5'Flank|KIAA1683_ENST00000392413.4_Silent_p.A1129A			Q9H0B3	K1683_HUMAN	KIAA1683	942	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCCTGCGACGCGCCAGGTAGC	0.672																																						ENST00000392413.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3385-3387)gcG>gcA		KIAA1683							43.0	46.0	45.0					19																	18368707		2195	4288	6483	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18368707C>T	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2826G>A	19.37:g.18368707C>T						KIAA1683_ENST00000600328.2_Silent_p.A942A|KIAA1683_ENST00000600359.2_Silent_p.A896A	p.A1129A	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN			4	3602	-			1129			IQ 5.		B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.3387G>A	CCDS32958.1																																																																																				0.672	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			32	81	0	0	0	1	0	32	81				
C16orf89	146556	broad.mit.edu	37	16	5115822	5115822	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr16:5115822C>T	ENST00000315997.5	-	1	289	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	C16orf89_ENST00000472572.3_Missense_Mutation_p.E30K|C16orf89_ENST00000474471.3_Missense_Mutation_p.E30K|C16orf89_ENST00000422873.1_Missense_Mutation_p.E68K|C16orf89_ENST00000350219.4_Missense_Mutation_p.E68K|ALG1_ENST00000588623.1_Intron	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	30						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GCTTTACTTTCAGCAGTGTCC	0.602																																						ENST00000315997.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(88-90)Gaa>Aaa		chromosome 16 open reading frame 89							56.0	61.0	59.0					16																	5115822		2120	4250	6370	SO:0001583	missense	146556					extracellular region		g.chr16:5115822C>T		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.88G>A	16.37:g.5115822C>T	ENSP00000324672:p.Glu30Lys					ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_Missense_Mutation_p.E30K|C16orf89_ENST00000472572.3_Missense_Mutation_p.E30K|C16orf89_ENST00000350219.4_Missense_Mutation_p.E68K|C16orf89_ENST00000422873.1_Missense_Mutation_p.E68K	p.E30K	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN			1	289	-			30					B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	c.88G>A	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	C	14.91	2.675297	0.47781	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.08	4.11	0.48088	.	0.404333	0.24957	N	0.034253	T	0.40694	0.1127	L	0.50333	1.59	0.22280	N	0.999233	D;D	0.60575	0.988;0.976	P;P	0.57204	0.815;0.652	T	0.16958	-1.0385	10	0.35671	T	0.21	-19.6387	11.1651	0.48539	0.0:0.8045:0.1955:0.0	.	30;68	Q6UX73;G3V0F0	CP089_HUMAN;.	K	30;30;30;68;68;30	ENSP00000417158:E30K;ENSP00000420566:E30K;ENSP00000390402:E68K;ENSP00000283478:E68K;ENSP00000324672:E30K	ENSP00000324672:E30K	E	-	1	0	C16orf89	5055823	0.321000	0.24625	0.052000	0.19188	0.002000	0.02628	1.103000	0.31062	1.094000	0.41399	0.650000	0.86243	GAA		0.602	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354524.1	NM_152459		10	35	0	0	0	1	0	10	35				
PTPRU	10076	broad.mit.edu	37	1	29585137	29585137	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:29585137G>A	ENST00000345512.3	+	3	455	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	PTPRU_ENST00000460170.2_Missense_Mutation_p.R109Q|PTPRU_ENST00000323874.8_Missense_Mutation_p.R109Q|PTPRU_ENST00000373779.3_Missense_Mutation_p.R109Q|PTPRU_ENST00000428026.2_Missense_Mutation_p.R109Q|PTPRU_ENST00000356870.3_Missense_Mutation_p.R109Q	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	109	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R109L(3)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTGTACAGCCGGGACGGGCAC	0.627																																						ENST00000356870.3																			3	Substitution - Missense(3)	p.R109L(3)	lung(3)	breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(325-327)cGg>cAg		protein tyrosine phosphatase, receptor type, U							131.0	147.0	141.0					1																	29585137		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29585137G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.326G>A	1.37:g.29585137G>A	ENSP00000334941:p.Arg109Gln					PTPRU_ENST00000345512.3_Missense_Mutation_p.R109Q|PTPRU_ENST00000373779.3_Missense_Mutation_p.R109Q|PTPRU_ENST00000323874.8_Missense_Mutation_p.R109Q|PTPRU_ENST00000460170.2_Missense_Mutation_p.R109Q|PTPRU_ENST00000428026.2_Missense_Mutation_p.R109Q	p.R109Q	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	3	436	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	109			MAM.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.326G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944088	0.92593	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.02085	4.46;4.46;4.46;4.46;4.46;4.46	5.72	3.75	0.43078	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.64402	D	0.000001	T	0.08313	0.0207	L	0.56769	1.78	0.45490	D	0.998459	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.77557	0.983;0.983;0.983;0.99;0.99	T	0.13335	-1.0513	9	.	.	.	.	10.2192	0.43188	0.0737:0.1364:0.7899:0.0	.	109;109;109;109;109	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	Q	109	ENSP00000334941:R109Q;ENSP00000362884:R109Q;ENSP00000349333:R109Q;ENSP00000314987:R109Q;ENSP00000392332:R109Q;ENSP00000432906:R109Q	.	R	+	2	0	PTPRU	29457724	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.597000	0.67577	1.426000	0.47256	0.591000	0.81541	CGG		0.627	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			148	96	0	0	0	1	0	148	96				
OR5D14	219436	broad.mit.edu	37	11	55563925	55563925	+	Silent	SNP	C	C	T	rs141238594	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr11:55563925C>T	ENST00000335605.1	+	1	894	c.894C>T	c.(892-894)gaC>gaT	p.D298D		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GGAATAAAGACGTGAAGGATG	0.413																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(892-894)gaC>gaT		olfactory receptor, family 5, subfamily D, member 14		C		1,4399	2.1+/-5.4	0,1,2199	48.0	48.0	48.0		894	1.5	1.0	11	dbSNP_134	48	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR5D14	NM_001004735.1		0,2,6494	TT,TC,CC		0.0116,0.0227,0.0154		298/315	55563925	2,12990	2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563925C>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.894C>T	11.37:g.55563925C>T							p.D298D	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	894	+		all_epithelial(135;0.196)	298					Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.894C>T	CCDS31508.1																																																																																				0.413	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		12	39	0	0	0	1	0	12	39				
CCDC74A	90557	broad.mit.edu	37	2	132290593	132290593	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr2:132290593G>A	ENST00000295171.6	+	7	1096	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	CCDC74A_ENST00000409856.3_Missense_Mutation_p.E254K|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	320										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAGGGACCAAGAAGCCACGCA	0.617																																						ENST00000295171.6																			0				endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(958-960)Gaa>Aaa		coiled-coil domain containing 74A							70.0	81.0	77.0					2																	132290593		2203	4298	6501	SO:0001583	missense	90557							g.chr2:132290593G>A		CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.958G>A	2.37:g.132290593G>A	ENSP00000295171:p.Glu320Lys					CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Missense_Mutation_p.E254K	p.E320K	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN			7	1096	+			320					Q6P4I5	Missense_Mutation	SNP	ENST00000295171.6	37	c.958G>A	CCDS2167.1	.	.	.	.	.	.	.	.	.	.	.	14.62	2.590499	0.46214	.	.	ENSG00000163040	ENST00000295171;ENST00000409856	T;T	0.35048	1.33;1.33	3.35	3.35	0.38373	.	0.000000	0.36628	U	0.002494	T	0.41511	0.1162	M	0.66939	2.045	0.80722	D	1	P;P	0.49961	0.93;0.914	P;P	0.47102	0.537;0.533	T	0.44847	-0.9301	10	0.62326	D	0.03	.	10.5645	0.45165	0.0:0.0:1.0:0.0	.	254;320	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	K	320;254	ENSP00000295171:E320K;ENSP00000387009:E254K	ENSP00000295171:E320K	E	+	1	0	CCDC74A	132007063	1.000000	0.71417	0.997000	0.53966	0.141000	0.21300	4.443000	0.59994	1.586000	0.49944	0.430000	0.28490	GAA		0.617	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254570.2	NM_138770		21	103	0	0	0	1	0	21	103				
BRWD1	54014	broad.mit.edu	37	21	40559107	40559107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr21:40559107G>A	ENST00000333229.2	-	42	7135	c.6808C>T	c.(6808-6810)Cga>Tga	p.R2270*	AF129408.17_ENST00000608767.1_RNA	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2270					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAAGCATTTCGATGGGGCAGT	0.338																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000333229.2																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(6808-6810)Cga>Tga		bromodomain and WD repeat domain containing 1							80.0	84.0	82.0					21																	40559107		2201	4296	6497	SO:0001587	stop_gained	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40559107G>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6808C>T	21.37:g.40559107G>A	ENSP00000330753:p.Arg2270*						p.R2270*	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN			42	7135	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	2270					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Nonsense_Mutation	SNP	ENST00000333229.2	37	c.6808C>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	G	48	14.030389	0.99776	.	.	ENSG00000185658	ENST00000333229	.	.	.	5.64	3.77	0.43336	.	0.159818	0.29314	N	0.012508	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8337	9.7264	0.40335	0.0715:0.2639:0.6646:0.0	.	.	.	.	X	2270	.	ENSP00000330753:R2270X	R	-	1	2	BRWD1	39480977	0.576000	0.26700	1.000000	0.80357	0.998000	0.95712	0.412000	0.21131	0.797000	0.33971	0.650000	0.86243	CGA		0.338	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		13	23	0	0	0	1	0	13	23				
PRR19	284338	broad.mit.edu	37	19	42814088	42814088	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:42814088C>G	ENST00000499536.2	+	1	1163	c.352C>G	c.(352-354)Cca>Gca	p.P118A	PRR19_ENST00000341747.3_Missense_Mutation_p.P118A|PRR19_ENST00000598490.1_Missense_Mutation_p.P118A			A6NJB7	PRR19_HUMAN	proline rich 19	118										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GGAACCAGCCCCACGGTCCAG	0.672																																						ENST00000499536.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10						c.(352-354)Cca>Gca		proline rich 19							35.0	44.0	41.0					19																	42814088		2203	4300	6503	SO:0001583	missense	284338							g.chr19:42814088C>G	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.352C>G	19.37:g.42814088C>G	ENSP00000445247:p.Pro118Ala					PRR19_ENST00000341747.3_Missense_Mutation_p.P118A|PRR19_ENST00000598490.1_Missense_Mutation_p.P118A	p.P118A			A6NJB7	PRR19_HUMAN			1	1163	+		Prostate(69;0.00682)	118					A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	c.352C>G	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.999929	0.00044	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	4.29	-0.236	0.13067	.	1.209420	0.06283	N	0.697670	T	0.22742	0.0549	N	0.19112	0.55	0.09310	N	1	B;B	0.18741	0.03;0.03	B;B	0.18561	0.022;0.022	T	0.21008	-1.0258	9	0.02654	T	1	-3.8251	6.7197	0.23323	0.0:0.5998:0.0:0.4002	.	118;118	A6NJB7;A6NJB7-2	PRR19_HUMAN;.	A	118	.	ENSP00000342709:P118A	P	+	1	0	PRR19	47505928	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.806000	0.04525	-0.031000	0.13781	-0.254000	0.11334	CCA		0.672	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		26	42	0	0	0	1	0	26	42				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	30	0	0	0	1	0	3	30				
PTPN14	5784	broad.mit.edu	37	1	214557023	214557023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr1:214557023delG	ENST00000366956.5	-	13	2369	c.2175delC	c.(2173-2175)cccfs	p.P725fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	725					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CCCGGAGCATGGGGATCTGGG	0.612																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2173-2175)ccfs		protein tyrosine phosphatase, non-receptor type 14							42.0	47.0	45.0					1																	214557023		2203	4299	6502	SO:0001589	frameshift_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557023delG	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2175delC	1.37:g.214557023delG	ENSP00000355923:p.Pro725fs					PTPN14_ENST00000543945.1_3'UTR	p.P725fs	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2369	-			725					Q5VSI0	Frame_Shift_Del	DEL	ENST00000366956.5	37	c.2175delC	CCDS1514.1																																																																																				0.612	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		19	51						19	51	---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62258702	62258702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr3:62258702delC	ENST00000474889.1	+	22	3641	c.3264delC	c.(3262-3264)gtcfs	p.V1088fs	PTPRG_ENST00000295874.10_Frame_Shift_Del_p.V1059fs|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1088	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGTTAACGTCCTGGGATTCC	0.478																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(3262-3264)gtfs		protein tyrosine phosphatase, receptor type, G							161.0	135.0	144.0					3																	62258702		2203	4300	6503	SO:0001589	frameshift_variant	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62258702delC	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3264delC	3.37:g.62258702delC	ENSP00000418112:p.Val1088fs					PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Frame_Shift_Del_p.V1059fs	p.V1088fs	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	22	3641	+			1088			Tyrosine-protein phosphatase 1.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Frame_Shift_Del	DEL	ENST00000474889.1	37	c.3264delC	CCDS2895.1																																																																																				0.478	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		7	32						7	32	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143960853	143960854	+	Intron	INS	-	-	TGCA			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr8:143960853_143960854insTGCA	ENST00000292427.4	-	1	272				CYP11B1_ENST00000377675.3_Frame_Shift_Ins_p.A95fs|CYP11B1_ENST00000517471.1_Intron	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1						aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CCAGCACGTGCTGCACTCCTTC	0.634									Familial Hyperaldosteronism type I																													ENST00000377675.3																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(280-285)gccacgfs		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)																																			SO:0001627	intron_variant	1584	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143960853_143960854insTGCA	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.239+136->TGCA	8.37:g.143960854_143960857dupTGCA						CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000292427.4_Intron	p.T95fs			P15538	C11B1_HUMAN			2	288_289	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		80					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Frame_Shift_Ins	INS	ENST00000292427.4	37	c.282_283insTGCA	CCDS6392.1																																																																																				0.634	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			27	38						27	38	---	---	---	---
NPR2	4882	broad.mit.edu	37	9	35811864	35811884	+	IGR	DEL	GCTGCAGCAGCTGATGCAGCC	GCTGCAGCAGCTGATGCAGCC	-	rs143976174|rs374621231|rs151256946|rs149894384|rs574588474|rs368220820	byFrequency	TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr9:35811864_35811884delGCTGCAGCAGCTGATGCAGCC	ENST00000342694.2	+	0	3686				HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000484764.1_In_Frame_Del_p.51_58AAASAAAA>A|TMEM8B_ENST00000377996.1_5'Flank|SPAG8_ENST00000340291.2_In_Frame_Del_p.53_60AAASAAAA>A|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000396638.2_In_Frame_Del_p.53_60AAASAAAA>A	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	Ggctgcagtagctgcagcagctgatgcagccgctgcagctg	0.602																																						ENST00000340291.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(157-180)gct>gc		sperm associated antigen 8																																				SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35811864_35811884delGCTGCAGCAGCTGATGCAGCC	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811864_35811884delGCTGCAGCAGCTGATGCAGCC						SPAG8_ENST00000396638.2_In_Frame_Del_p.AAASAAAA53del|SPAG8_ENST00000484764.1_In_Frame_Del_p.AAASAAAA51del	p.AAASAAAA53del	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	283_303	-	all_epithelial(49;0.161)		53			Ala-rich.		B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	In_Frame_Del	DEL	ENST00000342694.2	37	c.159_179delGGCTGCATCAGCTGCTGCAGC	CCDS6590.1																																																																																				0.602	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			18	59						18	59	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)cccaagfs	p.K490fs	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.K486fs|STAT2_ENST00000418572.2_3'UTR			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|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)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1465-1470)ccaggcfs		signal transducer and activator of transcription 2, 113kDa																																				SO:0001589	frameshift_variant	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742816_56742817insG	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1468dupC	12.37:g.56742823_56742823dupG	ENSP00000315768:p.Lys490fs					STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR	p.G490fs			P52630	STAT2_HUMAN			17	1490_1491	-			490					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Frame_Shift_Ins	INS	ENST00000314128.4	37	c.1467_1468insC	CCDS8917.1																																																																																				0.594	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		23	82						23	82	---	---	---	---
HMHA1	23526	broad.mit.edu	37	19	1078011	1078013	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr19:1078011_1078013delGCG	ENST00000313093.2	+	11	1572_1574	c.1341_1343delGCG	c.(1339-1344)aagcgg>aag	p.R450del	HMHA1_ENST00000543365.1_In_Frame_Del_p.R333del|HMHA1_ENST00000590214.1_In_Frame_Del_p.R477del|HMHA1_ENST00000536472.1_In_Frame_Del_p.R290del|HMHA1_ENST00000590577.1_In_Frame_Del_p.R85del|HMHA1_ENST00000586866.1_In_Frame_Del_p.R454del|HMHA1_ENST00000539243.2_In_Frame_Del_p.R466del	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	450					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGGACAAGCGGCGGCGGCTG	0.665																																						ENST00000313093.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(1339-1344)aag>aa		histocompatibility (minor) HA-1				5,4013		1,3,2005						4.9	1.0			17	9,7941		0,9,3966	no	coding	HMHA1	NM_012292.2		1,12,5971	A1A1,A1R,RR		0.1132,0.1244,0.117				14,11954				SO:0001651	inframe_deletion	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1078011_1078013delGCG	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1341_1343delGCG	19.37:g.1078017_1078019delGCG	ENSP00000316772:p.Arg450del					HMHA1_ENST00000539243.2_In_Frame_Del_p.KR463del|HMHA1_ENST00000543365.1_In_Frame_Del_p.KR330del|HMHA1_ENST00000590577.1_In_Frame_Del_p.KR82del|HMHA1_ENST00000590214.1_In_Frame_Del_p.KR474del|HMHA1_ENST00000586866.1_In_Frame_Del_p.KR451del|HMHA1_ENST00000536472.1_In_Frame_Del_p.KR287del	p.KR447del	NM_012292.3	NP_036424.2	Q92619	HMHA1_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)	11	1572_1574	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	447					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	In_Frame_Del	DEL	ENST00000313093.2	37	c.1341_1343delGCG	CCDS32863.1																																																																																				0.665	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			2	4						2	4	---	---	---	---
NFATC2	4773	broad.mit.edu	37	20	50139652	50139652	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr20:50139652delG	ENST00000396009.3	-	2	1347	c.1128delC	c.(1126-1128)cccfs	p.P376fs	NFATC2_ENST00000610033.1_Frame_Shift_Del_p.P157fs|NFATC2_ENST00000414705.1_Frame_Shift_Del_p.P356fs|NFATC2_ENST00000609507.1_Frame_Shift_Del_p.P157fs|NFATC2_ENST00000371564.3_Frame_Shift_Del_p.P376fs|NFATC2_ENST00000609943.1_Frame_Shift_Del_p.P356fs	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	376					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCAGCGGCTTGGGCCAAGTGG	0.562																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1126-1128)ccfs		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							82.0	97.0	92.0					20																	50139652		2202	4299	6501	SO:0001589	frameshift_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50139652delG	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1128delC	20.37:g.50139652delG	ENSP00000379330:p.Pro376fs					NFATC2_ENST00000414705.1_Frame_Shift_Del_p.P356fs|NFATC2_ENST00000396009.3_Frame_Shift_Del_p.P376fs	p.P376fs	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			2	1347	-	Hepatocellular(150;0.248)		376					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Frame_Shift_Del	DEL	ENST00000396009.3	37	c.1128delC	CCDS13437.1																																																																																				0.562	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		55	154						55	154	---	---	---	---
GTPBP1	9567	broad.mit.edu	37	22	39112081	39112081	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chr22:39112081delC	ENST00000216044.5	+	3	707	c.474delC	c.(472-474)ttcfs	p.F158fs		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	158	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					ACAATGACTTCCTGGAGGTCA	0.582																																						ENST00000216044.5																			0				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18						c.(472-474)ttfs		GTP binding protein 1							58.0	48.0	52.0					22																	39112081		2202	4298	6500	SO:0001589	frameshift_variant	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39112081delC	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.474delC	22.37:g.39112081delC	ENSP00000216044:p.Phe158fs						p.F158fs	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN			3	707	+	Melanoma(58;0.04)		158					Q6IC67	Frame_Shift_Del	DEL	ENST00000216044.5	37	c.474delC	CCDS13977.2																																																																																				0.582	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		4	7						4	7	---	---	---	---
RP1-154K9.2	0	broad.mit.edu	37	X	42384560	42384562	+	lincRNA	DEL	AAA	AAA	-	rs370030451		TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:42384560_42384562delAAA	ENST00000411879.1	+	0	523																											CAGCCAAGGGAAAAAAAAAAAAA	0.325																																						ENST00000411879.1																			0																																																			0							g.chrX:42384560_42384562delAAA																													X.37:g.42384569_42384571delAAA														0	523	+									RNA	DEL	ENST00000411879.1	37																																																																																						0.325	RP1-154K9.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000056295.1			2	4						2	4	---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53241082	53241083	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6JD-01A-11D-A31L-08	TCGA-CV-A6JD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	713d72ab-d960-4312-a161-63a6a511373c	7e108f9d-5612-49bb-9872-36decdc172a3	g.chrX:53241082_53241083insA	ENST00000375401.3	-	9	1660_1661	c.1128_1129insT	c.(1126-1131)tgtaagfs	p.K377fs	KDM5C_ENST00000404049.3_Frame_Shift_Ins_p.K376fs|KDM5C_ENST00000375379.3_Frame_Shift_Ins_p.K377fs|KDM5C_ENST00000452825.3_Frame_Shift_Ins_p.K310fs|KDM5C_ENST00000375383.3_Frame_Shift_Ins_p.K336fs|KDM5C_ENST00000465402.1_5'Flank|KDM5C-IT1_ENST00000412242.1_RNA	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	377					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGGGGCCGCTTACACTCCTGAA	0.51			"""N, F, S"""		clear cell renal carcinoma																																	ENST00000452825.3				Rec	yes		X	Xp11.22-p11.21	8242	"""N, F, S"""	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						c.(925-930)tgagcgfs		lysine (K)-specific demethylase 5C																																				SO:0001589	frameshift_variant	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53241082_53241083insA	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1129dupT	X.37:g.53241083_53241083dupA	ENSP00000364550:p.Lys377fs					KDM5C_ENST00000404049.3_Frame_Shift_Ins_p.*A375fs|KDM5C_ENST00000375383.3_Frame_Shift_Ins_p.*A335fs|KDM5C_ENST00000375379.3_Frame_Shift_Ins_p.*A376fs|KDM5C_ENST00000375401.3_Frame_Shift_Ins_p.*A376fs	p.*A309fs	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN			7	1459_1460	-			376					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Ins	INS	ENST00000375401.3	37	c.927_928insT	CCDS14351.1																																																																																				0.510	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		9	18						9	18	---	---	---	---
