#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
PTPN23	25930	broad.mit.edu	37	3	47454084	47454084	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr3:47454084C>G	ENST00000265562.4	+	24	4475	c.4398C>G	c.(4396-4398)tgC>tgG	p.C1466W	PTPN23_ENST00000431726.1_Missense_Mutation_p.C1340W	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1466					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCTCCATGCAAACCCTTGG	0.602																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(4396-4398)tgC>tgG		protein tyrosine phosphatase, non-receptor type 23							94.0	87.0	89.0					3																	47454084		2203	4300	6503	SO:0001583	missense	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47454084C>G	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.4398C>G	3.37:g.47454084C>G	ENSP00000265562:p.Cys1466Trp					PTPN23_ENST00000431726.1_Missense_Mutation_p.C1340W	p.C1466W	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	24	4475	+			1466					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	c.4398C>G	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183160	0.38511	.	.	ENSG00000076201	ENST00000265562	T	0.02631	4.22	4.25	1.33	0.21861	.	0.904364	0.09473	N	0.797475	T	0.01800	0.0057	N	0.14661	0.345	0.40040	D	0.975641	P	0.41643	0.758	B	0.32980	0.156	T	0.61608	-0.7028	10	0.36615	T	0.2	-6.3802	8.0202	0.30404	0.0:0.7117:0.0:0.2883	.	1466	Q9H3S7	PTN23_HUMAN	W	1466	ENSP00000265562:C1466W	ENSP00000265562:C1466W	C	+	3	2	PTPN23	47429088	0.915000	0.31059	0.026000	0.17262	0.767000	0.43475	0.756000	0.26419	0.062000	0.16340	0.557000	0.71058	TGC		0.602	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		10	29	0	0	0	1	0	10	29				
AGPAT9	84803	broad.mit.edu	37	4	84519225	84519225	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr4:84519225G>T	ENST00000395226.2	+	11	1236	c.1018G>T	c.(1018-1020)Gca>Tca	p.A340S	AGPAT9_ENST00000264409.4_Missense_Mutation_p.A340S	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	340					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GTTCGGTGATGCATTTTGGAA	0.448																																						ENST00000395226.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(1018-1020)Gca>Tca		1-acylglycerol-3-phosphate O-acyltransferase 9							132.0	121.0	125.0					4																	84519225		2203	4300	6503	SO:0001583	missense	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84519225G>T	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.1018G>T	4.37:g.84519225G>T	ENSP00000378651:p.Ala340Ser					AGPAT9_ENST00000264409.4_Missense_Mutation_p.A340S	p.A340S	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN			11	1236	+		Hepatocellular(203;0.114)	340					Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	c.1018G>T	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854015	0.71719	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.49432	0.78;0.78	5.62	5.62	0.85841	.	0.046704	0.85682	D	0.000000	T	0.56978	0.2022	M	0.81614	2.55	0.80722	D	1	P	0.40050	0.7	B	0.40038	0.317	T	0.61987	-0.6949	10	0.49607	T	0.09	-10.3612	19.6718	0.95914	0.0:0.0:1.0:0.0	.	340	Q53EU6	GPAT3_HUMAN	S	340	ENSP00000378651:A340S;ENSP00000264409:A340S	ENSP00000264409:A340S	A	+	1	0	AGPAT9	84738249	1.000000	0.71417	0.997000	0.53966	0.560000	0.35617	9.764000	0.98949	2.639000	0.89480	0.557000	0.71058	GCA		0.448	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		17	69	1	0	1.56452e-12	1	1.76425e-12	17	69				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		3	11	0	0	0	1	0	3	11				
FLNC	2318	broad.mit.edu	37	7	128494226	128494226	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr7:128494226G>A	ENST00000325888.8	+	40	6944	c.6683G>A	c.(6682-6684)cGg>cAg	p.R2228Q	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2195Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2228	Intradomain insert; mediate targeting to Z lines.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTCCTGGGCCGGGAGCGCCTG	0.716																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(6682-6684)cGg>cAg		filamin C, gamma							20.0	27.0	25.0					7																	128494226		1968	4135	6103	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128494226G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6683G>A	7.37:g.128494226G>A	ENSP00000327145:p.Arg2228Gln					RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2195Q	p.R2228Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			40	6944	+			2228			Intradomain insert.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6683G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594690	0.86953	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.85013	-1.93;-1.93	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	D	0.87497	0.6192	N	0.22421	0.69	0.53688	D	0.999973	D;P	0.71674	0.998;0.888	D;B	0.72982	0.979;0.392	D	0.88864	0.3328	10	0.66056	D	0.02	.	17.1975	0.86897	0.0:0.0:1.0:0.0	.	2195;2228	Q14315-2;Q14315	.;FLNC_HUMAN	Q	2228;2195	ENSP00000327145:R2228Q;ENSP00000344002:R2195Q	ENSP00000327145:R2228Q	R	+	2	0	FLNC	128281462	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.525000	0.81892	2.655000	0.90218	0.655000	0.94253	CGG		0.716	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			7	21	0	0	0	1	0	7	21				
KIAA1244	57221	broad.mit.edu	37	6	138601154	138601154	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr6:138601154G>A	ENST00000251691.4	+	14	2480	c.2314G>A	c.(2314-2316)Gtg>Atg	p.V772M		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CATGAAGCAGGTGCAGACCAG	0.542																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(2314-2316)Gtg>Atg		KIAA1244							128.0	111.0	117.0					6																	138601154		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138601154G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2314G>A	6.37:g.138601154G>A	ENSP00000251691:p.Val772Met						p.V772M	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	14	2480	+	Breast(32;0.135)		772			SEC7.			Missense_Mutation	SNP	ENST00000251691.4	37	c.2314G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	13.96	2.394007	0.42410	.	.	ENSG00000112379	ENST00000251691	T	0.44482	0.92	5.86	1.98	0.26296	SEC7-like (1);	0.493587	0.23157	N	0.051289	T	0.18087	0.0434	L	0.59436	1.845	0.44048	D	0.996781	B	0.12013	0.005	B	0.12837	0.008	T	0.07635	-1.0762	10	0.59425	D	0.04	-26.6235	4.0092	0.09615	0.1293:0.2351:0.5141:0.1214	.	772	Q5TH69	BIG3_HUMAN	M	772	ENSP00000251691:V772M	ENSP00000251691:V772M	V	+	1	0	KIAA1244	138642847	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	1.554000	0.36266	0.364000	0.24374	-0.169000	0.13324	GTG		0.542	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		3	37	0	0	0	1	0	3	37				
ARID1B	57492	broad.mit.edu	37	6	157454311	157454311	+	Missense_Mutation	SNP	G	G	A	rs150249745		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr6:157454311G>A	ENST00000350026.5	+	7	2483	c.2482G>A	c.(2482-2484)Ggt>Agt	p.G828S	ARID1B_ENST00000275248.4_Missense_Mutation_p.G770S|ARID1B_ENST00000367148.1_Missense_Mutation_p.G828S|ARID1B_ENST00000346085.5_Missense_Mutation_p.G841S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	828					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGGGACTTACGGTCCACAGAT	0.473																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(2521-2523)Ggt>Agt		AT rich interactive domain 1B (SWI1-like)		G	SER/GLY,SER/GLY	0,4406		0,0,2203	70.0	61.0	64.0		2482,2521	5.2	1.0	6	dbSNP_134	64	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ARID1B	NM_017519.2,NM_020732.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	828/2237,841/2250	157454311	1,13005	2203	4300	6503	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157454311G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2482G>A	6.37:g.157454311G>A	ENSP00000055163:p.Gly828Ser					ARID1B_ENST00000275248.4_Missense_Mutation_p.G770S|ARID1B_ENST00000367148.1_Missense_Mutation_p.G828S|ARID1B_ENST00000350026.5_Missense_Mutation_p.G828S	p.G841S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	8	2522	+		Breast(66;0.000162)|Ovarian(120;0.0265)	828					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.2521G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	32	5.182273	0.94885	0.0	1.16E-4	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85	6.06	5.19	0.71726	.	0.170568	0.52532	D	0.000079	T	0.35595	0.0937	L	0.52011	1.625	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.998;0.999;0.999	D;P;P;P	0.91635	0.999;0.739;0.866;0.866	T	0.20638	-1.0269	10	0.59425	D	0.04	.	15.2413	0.73471	0.0671:0.0:0.9329:0.0	.	212;828;841;770	F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	S	841;828;828;770;245;212;297;250	ENSP00000344546:G841S;ENSP00000055163:G828S;ENSP00000356116:G828S;ENSP00000275248:G770S;ENSP00000412835:G297S;ENSP00000313006:G250S	ENSP00000275248:G770S	G	+	1	0	ARID1B	157496003	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.621000	0.83083	1.555000	0.49500	0.655000	0.94253	GGT		0.473	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		15	15	0	0	0	1	0	15	15				
NIN	51199	broad.mit.edu	37	14	51224910	51224910	+	Silent	SNP	C	C	T			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr14:51224910C>T	ENST00000382041.3	-	18	3028	c.2838G>A	c.(2836-2838)agG>agA	p.R946R	NIN_ENST00000382043.4_Intron|NIN_ENST00000324330.9_Silent_p.R946R|NIN_ENST00000530997.2_Silent_p.R946R|NIN_ENST00000245441.5_Silent_p.R946R|NIN_ENST00000453196.1_Silent_p.R946R|NIN_ENST00000389868.3_Intron	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	946					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCCTCAGTTCCCTTTTGTGAC	0.537			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(2836-2838)agG>agA		ninein (GSK3B interacting protein)							128.0	129.0	129.0					14																	51224910		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51224910C>T	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.2838G>A	14.37:g.51224910C>T						NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Silent_p.R946R|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Silent_p.R946R|NIN_ENST00000530997.2_Silent_p.R946R|NIN_ENST00000453196.1_Silent_p.R946R	p.R946R	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			18	3028	-	all_epithelial(31;0.00244)|Breast(41;0.127)		946					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.2838G>A	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.894019	0.00522	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.61	1.75	0.24633	.	.	.	.	.	T	0.25044	0.0608	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	T	0.21314	-1.0249	4	.	.	.	-0.5126	4.6952	0.12800	0.1328:0.2915:0.0:0.5757	.	.	.	.	R	437	.	.	G	-	1	0	NIN	50294660	0.001000	0.12720	0.005000	0.12908	0.001000	0.01503	-0.317000	0.08060	0.399000	0.25367	-0.285000	0.09966	GGA		0.537	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		46	63	0	0	0	1	0	46	63				
MDN1	23195	broad.mit.edu	37	6	90494821	90494821	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr6:90494821C>G	ENST00000369393.3	-	9	1474	c.1359G>C	c.(1357-1359)tgG>tgC	p.W453C	MDN1_ENST00000428876.1_Missense_Mutation_p.W453C			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	453					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCGGTCGATACCAATTTCCTC	0.383																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(1357-1359)tgG>tgC		MDN1, midasin homolog (yeast)							218.0	209.0	212.0					6																	90494821		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90494821C>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1359G>C	6.37:g.90494821C>G	ENSP00000358400:p.Trp453Cys					MDN1_ENST00000428876.1_Missense_Mutation_p.W453C	p.W453C			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	9	1474	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	453					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.1359G>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263142	0.59431	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.39229	1.09;1.09	5.57	5.57	0.84162	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.50531	0.1621	L	0.43152	1.355	0.80722	D	1	D;D	0.89917	1.0;0.979	D;D	0.75484	0.986;0.984	T	0.38243	-0.9670	10	0.38643	T	0.18	.	19.5322	0.95234	0.0:1.0:0.0:0.0	.	453;453	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	C	453	ENSP00000358400:W453C;ENSP00000413970:W453C	ENSP00000358400:W453C	W	-	3	0	MDN1	90551542	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.932000	0.75869	2.622000	0.88805	0.591000	0.81541	TGG		0.383	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			37	93	0	0	0	1	0	37	93				
ANKRD53	79998	broad.mit.edu	37	2	71206323	71206323	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr2:71206323C>G	ENST00000360589.3	+	2	301	c.267C>G	c.(265-267)gaC>gaG	p.D89E	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000457410.1_Intron|ANKRD53_ENST00000272421.6_Missense_Mutation_p.D89E|ANKRD53_ENST00000441349.1_Intron	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	89										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CCCGCGCTGACCCCAGCCCCA	0.716																																						ENST00000272421.6																			0				endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						c.(265-267)gaC>gaG		ankyrin repeat domain 53							38.0	41.0	40.0					2																	71206323		2199	4296	6495	SO:0001583	missense	79998							g.chr2:71206323C>G	BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.267C>G	2.37:g.71206323C>G	ENSP00000353796:p.Asp89Glu					ANKRD53_ENST00000360589.3_Missense_Mutation_p.D89E|ANKRD53_ENST00000441349.1_Intron|ANKRD53_ENST00000457410.1_Intron|AC007040.11_ENST00000606025.1_Intron	p.D89E	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN			2	533	+			89					Q8IYP8	Missense_Mutation	SNP	ENST00000360589.3	37	c.267C>G	CCDS46321.1	.	.	.	.	.	.	.	.	.	.	c	10.67	1.415738	0.25552	.	.	ENSG00000144031	ENST00000272421;ENST00000360589	T;T	0.65364	-0.15;-0.12	2.43	-0.583	0.11706	.	6.950280	0.00447	N	0.000086	T	0.42765	0.1217	N	0.19112	0.55	0.09310	N	1	P;P	0.41450	0.675;0.75	B;B	0.38755	0.037;0.281	T	0.21177	-1.0253	10	0.12430	T	0.62	6.9663	3.9417	0.09329	0.1858:0.5462:0.0:0.268	.	89;89	Q8N9V6;Q8N9V6-2	ANR53_HUMAN;.	E	89	ENSP00000272421:D89E;ENSP00000353796:D89E	ENSP00000272421:D89E	D	+	3	2	ANKRD53	71059831	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.325000	0.19628	-0.498000	0.06632	-2.311000	0.00256	GAC		0.716	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330275.2	NM_024933		23	54	0	0	0	1	0	23	54				
LTN1	26046	broad.mit.edu	37	21	30359240	30359240	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr21:30359240G>C	ENST00000361371.5	-	2	137	c.58C>G	c.(58-60)Cga>Gga	p.R20G	LTN1_ENST00000389195.2_Missense_Mutation_p.R66G|LTN1_ENST00000389194.2_Missense_Mutation_p.R66G			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	20					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCTGCAGCTCGGCCACTGTTT	0.433																																						ENST00000361371.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(58-60)Cga>Gga		listerin E3 ubiquitin protein ligase 1																																				SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30359240G>C	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.58C>G	21.37:g.30359240G>C	ENSP00000354977:p.Arg20Gly					LTN1_ENST00000389195.2_Missense_Mutation_p.R66G|LTN1_ENST00000389194.2_Missense_Mutation_p.R66G	p.R20G	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN			2	208	-			20					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.58C>G		.	.	.	.	.	.	.	.	.	.	G	17.32	3.359496	0.61403	.	.	ENSG00000198862	ENST00000389194;ENST00000361371;ENST00000446611;ENST00000389195	T;T;T	0.29397	1.91;1.93;1.57	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000004	T	0.56366	0.1980	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61118	-0.7127	10	0.62326	D	0.03	.	11.5883	0.50931	0.0:0.0:0.6934:0.3066	.	20	O94822	LTN1_HUMAN	G	66;20;20;66	ENSP00000373846:R66G;ENSP00000354977:R20G;ENSP00000373847:R66G	ENSP00000354977:R20G	R	-	1	2	LTN1	29281111	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.345000	0.59360	2.372000	0.80975	0.561000	0.74099	CGA		0.433	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		20	23	0	0	0	1	0	20	23				
JPH2	57158	broad.mit.edu	37	20	42815085	42815085	+	Silent	SNP	T	T	C			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr20:42815085T>C	ENST00000372980.3	-	1	1133	c.261A>G	c.(259-261)acA>acG	p.T87T	JPH2_ENST00000342272.3_Silent_p.T87T	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	87	Gly-rich.				calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGAAGCCATGTGTCCACTCGC	0.612																																						ENST00000372980.3																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(259-261)acA>acG		junctophilin 2							143.0	109.0	121.0					20																	42815085		2203	4300	6503	SO:0001819	synonymous_variant	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42815085T>C	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.261A>G	20.37:g.42815085T>C						JPH2_ENST00000342272.3_Silent_p.T87T	p.T87T	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	1133	-		Myeloproliferative disorder(115;0.0122)	87			Gly-rich.		E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	c.261A>G	CCDS13325.1																																																																																				0.612	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			16	34	0	0	0	1	0	16	34				
CDC45	8318	broad.mit.edu	37	22	19502368	19502368	+	Silent	SNP	C	C	T			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr22:19502368C>T	ENST00000407835.1	+	15	1570	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	CDC45_ENST00000404724.3_Silent_p.L392L|CDC45_ENST00000263201.1_Silent_p.L438L|CDC45_ENST00000437685.2_Silent_p.L470L			O75419	CDC45_HUMAN	cell division cycle 45	438					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GCACCAACCTCGTCATCTCCC	0.597																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(1312-1314)ctC>ctT		cell division cycle 45							132.0	116.0	121.0					22																	19502368		2203	4300	6503	SO:0001819	synonymous_variant	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19502368C>T	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1314C>T	22.37:g.19502368C>T						CDC45_ENST00000437685.2_Silent_p.L470L|CDC45_ENST00000263201.1_Silent_p.L438L|CDC45_ENST00000404724.3_Silent_p.L392L	p.L438L			O75419	CDC45_HUMAN			15	1570	+			438					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	c.1314C>T	CCDS13762.1																																																																																				0.597	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		13	46	0	0	0	1	0	13	46				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	64	0	0	0	1	0	3	64				
PA2G4	5036	broad.mit.edu	37	12	56503666	56503666	+	Silent	SNP	G	G	A			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr12:56503666G>A	ENST00000303305.6	+	7	995	c.576G>A	c.(574-576)caG>caA	p.Q192Q	PA2G4_ENST00000552766.1_Silent_p.Q192Q|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	192					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			AGTTGAAGCAGCATGTCATCG	0.443																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(574-576)caG>caA		proliferation-associated 2G4, 38kDa							126.0	117.0	120.0					12																	56503666		2203	4300	6503	SO:0001819	synonymous_variant	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56503666G>A	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.576G>A	12.37:g.56503666G>A						RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.Q192Q	p.Q192Q	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		7	995	+			192					O43846|Q9UM59	Silent	SNP	ENST00000303305.6	37	c.576G>A	CCDS8902.1																																																																																				0.443	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		3	55	0	0	0	1	0	3	55				
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	rs201744589		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr17:7577046C>A	ENST00000269305.4	-	8	1081	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E298*	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	298	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(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)	GGGGGCAGCTCGTGGTGAGGC	0.567		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"""		67	Substitution - Nonsense(49)|Whole gene deletion(8)|Deletion - In frame(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	lung(21)|upper_aerodigestive_tract(13)|breast(6)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|central_nervous_system(2)|oesophagus(2)|ovary(2)|pancreas(2)|liver(2)|large_intestine(1)|stomach(1)|salivary_gland(1)|skin(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	CM031387	TP53	M		c.(892-894)Gag>Tag	Other conserved DNA damage response genes	tumor protein p53							110.0	96.0	101.0					17																	7577046		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7577046C>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.892G>T	17.37:g.7577046C>A	ENSP00000269305:p.Glu298*	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_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*	p.E298*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1024	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	298		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.892G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603544	0.66445	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	-4.03	0.04021	.	0.553557	0.18174	N	0.149346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.8318	5.9489	0.19234	0.0:0.2155:0.4162:0.3682	.	.	.	.	X	298;298;298;298;298;287;166	.	ENSP00000269305:E298X	E	-	1	0	TP53	7517771	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.441000	0.07201	-0.218000	0.12543	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	39	1	0	6.31663e-08	1	6.83227e-08	12	39				
RALBP1	10928	broad.mit.edu	37	18	9524699	9524699	+	Silent	SNP	G	G	A	rs150447479		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr18:9524699G>A	ENST00000019317.4	+	5	1384	c.1161G>A	c.(1159-1161)acG>acA	p.T387T	RALBP1_ENST00000383432.3_Silent_p.T387T			Q15311	RBP1_HUMAN	ralA binding protein 1	387					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	ACATGGCCACGATGCCCACGC	0.532																																						ENST00000019317.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						c.(1159-1161)acG>acA		ralA binding protein 1		G		1,4405	2.1+/-5.4	0,1,2202	53.0	46.0	49.0		1161	-11.0	0.2	18	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous	RALBP1	NM_006788.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		387/656	9524699	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10928				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	g.chr18:9524699G>A	L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1161G>A	18.37:g.9524699G>A						RALBP1_ENST00000383432.3_Silent_p.T387T	p.T387T			Q15311	RBP1_HUMAN			5	1384	+			387					D3DUI0	Silent	SNP	ENST00000019317.4	37	c.1161G>A	CCDS11845.1																																																																																				0.532	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254479.1	NM_006788		5	32	0	0	0	1	0	5	32				
RNF144A	9781	broad.mit.edu	37	2	7137191	7137191	+	Splice_Site	SNP	T	T	G			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr2:7137191T>G	ENST00000320892.6	+	3	576	c.134T>G	c.(133-135)cTg>cGg	p.L45R	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	45					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TTCTGTACTCTGGTTGGTCTT	0.458																																						ENST00000320892.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.e3+1		ring finger protein 144A							141.0	127.0	132.0					2																	7137191		2203	4300	6503	SO:0001630	splice_region_variant	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7137191T>G	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.135+1T>G	2.37:g.7137191T>G						RNF144A_ENST00000467276.1_Intron	p.L45_splice	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	3	576	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	45					D6W4Y6|Q585H5	Splice_Site	SNP	ENST00000320892.6	37	c.135_splice	CCDS1657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.43|15.43	2.831363|2.831363	0.50845|0.50845	.|.	.|.	ENSG00000151692|ENSG00000151692	ENST00000432850|ENST00000320892;ENST00000427092;ENST00000416587;ENST00000433456	.|T;T;T	.|0.44083	.|2.02;0.93;0.93	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Zinc finger, RING-type (2);	.|0.066923	.|0.64402	.|D	.|0.000007	T|T	0.42899|0.42899	0.1223|0.1223	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|P	.|0.41313	.|0.745	.|P	.|0.46758	.|0.526	T|T	0.14896|0.14896	-1.0456|-1.0456	5|10	.|0.25106	.|T	.|0.35	.|.	16.1189|16.1189	0.81329|0.81329	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|45	.|P50876	.|R144A_HUMAN	G|R	41|45	.|ENSP00000321330:L45R;ENSP00000414420:L45R;ENSP00000402645:L45R	.|ENSP00000321330:L45R	C|L	+|+	1|2	0|0	RNF144A|RNF144A	7054642|7054642	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.722000|0.722000	0.41435|0.41435	7.555000|7.555000	0.82223|0.82223	2.263000|2.263000	0.75096|0.75096	0.533000|0.533000	0.62120|0.62120	TGT|CTG		0.458	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746	Missense_Mutation	14	51	0	0	0	1	0	14	51				
PAEP	5047	broad.mit.edu	37	9	138454224	138454224	+	Missense_Mutation	SNP	A	A	C			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr9:138454224A>C	ENST00000479141.1	+	2	225	c.181A>C	c.(181-183)Atc>Ctc	p.I61L	PAEP_ENST00000277508.5_Missense_Mutation_p.I61L|PAEP_ENST00000371766.2_Missense_Mutation_p.I61L	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	61					multicellular organismal development (GO:0007275)|transport (GO:0006810)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GAGGGTCCACATCACCTCACT	0.617																																						ENST00000479141.1																			0				cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						c.(181-183)Atc>Ctc		progestagen-associated endometrial protein							116.0	95.0	102.0					9																	138454224		2203	4300	6503	SO:0001583	missense	5047				multicellular organismal development	extracellular region	binding|transporter activity	g.chr9:138454224A>C		CCDS35173.1	9q34	2011-11-15	2008-07-31		ENSG00000122133	ENSG00000122133		"""Lipocalins"""	8573	protein-coding gene	gene with protein product	"""glycodelin-A"", ""glycodelin-S"", ""glycodelin-F"", ""progesterone-associated endometrial protein"", ""glycodelin"", ""PP14 protein (placental protein 14)"", ""pregnancy-associated endometrial alpha-2-globulin"", ""alpha uterine protein"""	173310				3320533, 2016092	Standard	XM_005263405		Approved	PEP, PP14, GdA, GdS, GdF, PAEG, GD, MGC138509, MGC142288	uc004cgd.1	P09466	OTTHUMG00000020914	ENST00000479141.1:c.181A>C	9.37:g.138454224A>C	ENSP00000417898:p.Ile61Leu					PAEP_ENST00000277508.5_Missense_Mutation_p.I61L|PAEP_ENST00000371766.2_Missense_Mutation_p.I61L	p.I61L	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	2	225	+			61					Q5T6T1|Q9UG92	Missense_Mutation	SNP	ENST00000479141.1	37	c.181A>C	CCDS35173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	3.046|3.046	-0.196359|-0.196359	0.06259|0.06259	.|.	.|.	ENSG00000122133|ENSG00000122133	ENST00000433563;ENST00000454923|ENST00000479141;ENST00000371767;ENST00000371766;ENST00000277508;ENST00000418284	T;T|T;T;T;T	0.07114|0.08634	3.22;3.22|3.07;3.07;3.07;3.07	1.15|1.15	-2.3|-2.3	0.06785|0.06785	.|Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	.|.	.|.	.|.	.|.	T|T	0.09598|0.09598	0.0236|0.0236	L|L	0.57536|0.57536	1.79|1.79	0.09310|0.09310	N|N	1|1	.|B;P;B;B;P	.|0.41008	.|0.016;0.456;0.02;0.058;0.735	.|B;B;B;B;B	.|0.42495	.|0.004;0.301;0.038;0.038;0.389	T|T	0.08046|0.08046	-1.0741|-1.0741	7|9	0.87932|0.35671	D|T	0|0.21	.|.	6.186|6.186	0.20498|0.20498	0.6592:0.0:0.3408:0.0|0.6592:0.0:0.3408:0.0	.|.	.|39;43;61;39;61	.|P09466-2;B2R4F9;A6XNE0;E9PH67;P09466	.|.;.;.;.;PAEP_HUMAN	P|L	24;6|61;39;61;61;13	ENSP00000394216:H24P;ENSP00000404033:H6P|ENSP00000417898:I61L;ENSP00000360831:I61L;ENSP00000277508:I61L;ENSP00000401933:I13L	ENSP00000394216:H24P|ENSP00000277508:I61L	H|I	+|+	2|1	0|0	PAEP|PAEP	137594045|137594045	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-4.265000|-4.265000	0.00263|0.00263	-1.781000|-1.781000	0.01277|0.01277	-1.957000|-1.957000	0.00481|0.00481	CAT|ATC		0.617	PAEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055010.1	NM_001018049		13	32	0	0	0	1	0	13	32				
ZBTB9	221504	broad.mit.edu	37	6	33423655	33423655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr6:33423655C>T	ENST00000395064.2	+	2	1046	c.778C>T	c.(778-780)Cga>Tga	p.R260*		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	260	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGCTACTCCCCGAAAGCTTCC	0.577																																						ENST00000395064.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						c.(778-780)Cga>Tga		zinc finger and BTB domain containing 9							64.0	67.0	66.0					6																	33423655		2203	4300	6503	SO:0001587	stop_gained	221504				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33423655C>T	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.778C>T	6.37:g.33423655C>T	ENSP00000378503:p.Arg260*						p.R260*	NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN			2	1046	+			260			Pro-rich.		A2AB19	Nonsense_Mutation	SNP	ENST00000395064.2	37	c.778C>T	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.850927	0.51270	.	.	ENSG00000213588	ENST00000395064	.	.	.	5.28	-1.68	0.08212	.	2.093230	0.03826	U	0.268317	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	5.3805	0.16189	0.1332:0.4168:0.0:0.45	.	.	.	.	X	260	.	ENSP00000378503:R260X	R	+	1	2	ZBTB9	33531633	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.125000	0.10579	-0.563000	0.06078	-0.136000	0.14681	CGA		0.577	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735		9	43	0	0	0	1	0	9	43				
FAM86A	196483	broad.mit.edu	37	16	5135731	5135731	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr16:5135731G>A	ENST00000427587.4	-	8	963	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	FAM86A_ENST00000587133.1_Missense_Mutation_p.R238W|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000458008.4_Missense_Mutation_p.R265W	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	299						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						ATCCCGGCCCGGCCTGGAAAC	0.567																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(895-897)Cgg>Tgg		family with sequence similarity 86, member A							101.0	94.0	96.0					16																	5135731		2197	4300	6497	SO:0001583	missense	196483							g.chr16:5135731G>A	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.895C>T	16.37:g.5135731G>A	ENSP00000398502:p.Arg299Trp					ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000458008.4_Missense_Mutation_p.R265W|FAM86A_ENST00000587133.1_Missense_Mutation_p.R238W	p.R299W	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			8	963	-			299					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.895C>T	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586119	0.28268	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.18338	2.22;2.22	4.36	-0.445	0.12242	.	0.620445	0.10184	U	0.705453	T	0.12433	0.0302	.	.	.	0.09310	N	1	B;B	0.13594	0.008;0.002	B;B	0.04013	0.001;0.0	T	0.30534	-0.9975	9	0.62326	D	0.03	.	7.7408	0.28841	0.0:0.1431:0.3061:0.5508	.	265;299	Q96G04-2;Q96G04	.;FA86A_HUMAN	W	265;299	ENSP00000389710:R265W;ENSP00000398502:R299W	ENSP00000398502:R299W	R	-	1	2	FAM86A	5075732	0.218000	0.23608	0.031000	0.17742	0.220000	0.24768	0.961000	0.29267	0.162000	0.19483	0.484000	0.47621	CGG		0.567	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		11	88	0	0	0	1	0	11	88				
TFDP1	7027	broad.mit.edu	37	13	114288328	114288328	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr13:114288328C>T	ENST00000375370.5	+	7	810	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	TFDP1_ENST00000544902.1_Nonsense_Mutation_p.Q105*|TFDP1_ENST00000538138.1_Nonsense_Mutation_p.Q105*	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	200					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CAACTCGGCTCAGGAATGTCA	0.502										TSP Lung(29;0.18)																												ENST00000375370.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(598-600)Cag>Tag		transcription factor Dp-1							110.0	94.0	100.0					13																	114288328		2203	4300	6503	SO:0001587	stop_gained	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114288328C>T	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.598C>T	13.37:g.114288328C>T	ENSP00000364519:p.Gln200*	TSP Lung(29;0.18)				TFDP1_ENST00000544902.1_Nonsense_Mutation_p.Q105*|TFDP1_ENST00000538138.1_Nonsense_Mutation_p.Q105*	p.Q200*	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		7	810	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	200					B4DLQ9|Q5JSB4|Q8IZL5	Nonsense_Mutation	SNP	ENST00000375370.5	37	c.598C>T	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395881	0.96009	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902;ENST00000408980	.	.	.	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.7831	0.85567	0.0:1.0:0.0:0.0	.	.	.	.	X	105;200;105;200	.	ENSP00000364519:Q200X	Q	+	1	0	TFDP1	113336329	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.340000	0.79292	1.958000	0.56883	0.491000	0.48974	CAG		0.502	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		31	41	0	0	0	1	0	31	41				
FBXL6	26233	broad.mit.edu	37	8	145579637	145579637	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr8:145579637C>A	ENST00000331890.5	-	8	1527	c.1463G>T	c.(1462-1464)aGc>aTc	p.S488I	SLC52A2_ENST00000527078.1_5'Flank|FBXL6_ENST00000526524.1_Intron|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000455319.2_Missense_Mutation_p.S482I|SLC52A2_ENST00000530047.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	488					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCTGACAGTGCTTGGTGTGAC	0.637																																						ENST00000331890.5																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(1462-1464)aGc>aTc		F-box and leucine-rich repeat protein 6							73.0	70.0	71.0					8																	145579637		2203	4300	6503	SO:0001583	missense	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145579637C>A	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1463G>T	8.37:g.145579637C>A	ENSP00000330098:p.Ser488Ile					FBXL6_ENST00000455319.2_Missense_Mutation_p.S482I|FBXL6_ENST00000526524.1_Intron	p.S488I	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		8	1527	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		488					Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	c.1463G>T	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	C	8.712	0.912383	0.17907	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.78364	-1.17;-1.17	5.06	3.21	0.36854	.	0.683468	0.13626	N	0.374080	T	0.70859	0.3272	L	0.45581	1.43	0.09310	N	1	P;P	0.39624	0.553;0.681	B;B	0.41988	0.205;0.372	T	0.61912	-0.6965	10	0.49607	T	0.09	-29.4124	5.8065	0.18442	0.0:0.6256:0.2607:0.1137	.	488;482	Q8N531;Q8N531-2	FBXL6_HUMAN;.	I	482;488	ENSP00000403873:S482I;ENSP00000330098:S488I	ENSP00000330098:S488I	S	-	2	0	FBXL6	145550445	0.033000	0.19621	0.150000	0.22450	0.288000	0.27193	0.110000	0.15437	1.130000	0.42092	0.563000	0.77884	AGC		0.637	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		15	29	1	0	4.14922e-12	1	4.58143e-12	15	29				
IGSF9	57549	broad.mit.edu	37	1	159912790	159912790	+	Silent	SNP	G	G	A	rs573559309	byFrequency	TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr1:159912790G>A	ENST00000368094.1	-	3	407	c.210C>T	c.(208-210)ttC>ttT	p.F70F	IGSF9_ENST00000361509.3_Silent_p.F70F	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	70	Ig-like 1.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.F70F(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGTAGAGGCCGAACTGGATGA	0.602													g|||	3	0.000599042	0.0	0.0	5008	,	,		17215	0.0		0.0	False		,,,				2504	0.0031					ENST00000368094.1																			1	Substitution - coding silent(1)	p.F70F(1)	large_intestine(1)	central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(208-210)ttC>ttT		immunoglobulin superfamily, member 9							58.0	60.0	59.0					1																	159912790		2203	4300	6503	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159912790G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.210C>T	1.37:g.159912790G>A						IGSF9_ENST00000361509.3_Silent_p.F70F	p.F70F	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	407	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	70			Ig-like 1.			Silent	SNP	ENST00000368094.1	37	c.210C>T	CCDS44254.1																																																																																				0.602	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		5	53	0	0	0	1	0	5	53				
BPIFB4	149954	broad.mit.edu	37	20	31671327	31671327	+	Silent	SNP	C	C	A			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr20:31671327C>A	ENST00000375483.3	+	3	324	c.324C>A	c.(322-324)atC>atA	p.I108I		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	108						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ATGGTGAGATCCTTGAGTCCG	0.532																																						ENST00000375483.3																			0											c.(322-324)atC>atA		BPI fold containing family B, member 4							82.0	74.0	76.0					20																	31671327		2203	4300	6503	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671327C>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.324C>A	20.37:g.31671327C>A							p.I108I	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN			3	324	+			108					Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.324C>A	CCDS13213.2																																																																																				0.532	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		28	70	1	0	1.08312e-15	1	1.24794e-15	28	70				
RPL3L	6123	broad.mit.edu	37	16	1996981	1996981	+	Silent	SNP	G	G	A	rs148725709		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr16:1996981G>A	ENST00000268661.7	-	6	901	c.807C>T	c.(805-807)gcC>gcT	p.A269A		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	269					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCTTCTGCCCGGCCCGAGCAA	0.662																																						ENST00000268661.7																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(805-807)gcC>gcT		ribosomal protein L3-like		G		1,4397	2.1+/-5.4	0,1,2198	52.0	53.0	52.0		807	-1.6	1.0	16	dbSNP_134	52	0,8600		0,0,4300	no	coding-synonymous	RPL3L	NM_005061.2		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		269/408	1996981	1,12997	2199	4300	6499	SO:0001819	synonymous_variant	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:1996981G>A	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.807C>T	16.37:g.1996981G>A							p.A269A	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN			6	901	-			269						Silent	SNP	ENST00000268661.7	37	c.807C>T	CCDS10450.1																																																																																				0.662	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061		28	78	0	0	0	1	0	28	78				
KDM6A	7403	broad.mit.edu	37	X	44949994	44949994	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chrX:44949994C>T	ENST00000377967.4	+	26	3804	c.3763C>T	c.(3763-3765)Cgg>Tgg	p.R1255W	KDM6A_ENST00000543216.1_Missense_Mutation_p.R1176W|KDM6A_ENST00000382899.4_Missense_Mutation_p.R1262W|KDM6A_ENST00000536777.1_Missense_Mutation_p.R1210W	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1255	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.R1255W(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GGCAGTGGAACGGTACGAATG	0.388			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		7	Whole gene deletion(6)|Substitution - Missense(1)	p.0?(6)|p.R1255W(1)	breast(3)|oesophagus(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3763-3765)Cgg>Tgg		lysine (K)-specific demethylase 6A							148.0	123.0	131.0					X																	44949994		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44949994C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3763C>T	X.37:g.44949994C>T	ENSP00000367203:p.Arg1255Trp					KDM6A_ENST00000543216.1_Missense_Mutation_p.R1176W|KDM6A_ENST00000536777.1_Missense_Mutation_p.R1210W|KDM6A_ENST00000382899.4_Missense_Mutation_p.R1262W	p.R1255W	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			26	3804	+			1255			JmjC.		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.3763C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.944645|3.944645	0.73672|0.73672	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|.	0.71579|.	-0.58;-0.58;-0.58;-0.58|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Transcription factor jumonji/aspartyl beta-hydroxylase (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80226|0.80226	0.4584|0.4584	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.99;0.996;1.0;0.995;0.999|.	D|D	0.83541|0.83541	0.0096|0.0096	10|5	0.87932|.	D|.	0|.	-13.3423|-13.3423	14.3106|14.3106	0.66413|0.66413	0.1488:0.8512:0.0:0.0|0.1488:0.8512:0.0:0.0	.|.	894;1262;1210;1307;1255|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550|.	.;.;.;.;KDM6A_HUMAN|.	W|M	952;1255;1210;1262;1176|852;897	ENSP00000367203:R1255W;ENSP00000437405:R1210W;ENSP00000372355:R1262W;ENSP00000443078:R1176W|.	ENSP00000334340:R952W|.	R|T	+|+	1|2	2|0	KDM6A|KDM6A	44834938|44834938	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.676000|5.676000	0.68131|0.68131	2.361000|2.361000	0.80049|0.80049	0.529000|0.529000	0.55759|0.55759	CGG|ACG		0.388	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		3	38	0	0	0	1	0	3	38				
RAB33A	9363	broad.mit.edu	37	X	129318354	129318354	+	Silent	SNP	C	C	T			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chrX:129318354C>T	ENST00000257017.4	+	2	768	c.354C>T	c.(352-354)gaC>gaT	p.D118D		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	118					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						TCGTCTATGACGTCACCAAGA	0.517																																						ENST00000257017.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						c.(352-354)gaC>gaT		RAB33A, member RAS oncogene family							160.0	120.0	133.0					X																	129318354		2203	4300	6503	SO:0001819	synonymous_variant	9363				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chrX:129318354C>T	D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.354C>T	X.37:g.129318354C>T							p.D118D	NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN			2	768	+			118					Q5JUZ6|Q92465	Silent	SNP	ENST00000257017.4	37	c.354C>T	CCDS14621.1																																																																																				0.517	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058246.1	NM_004794		4	29	0	0	0	1	0	4	29				
FCGBP	8857	broad.mit.edu	37	19	40395884	40395884	+	Nonsense_Mutation	SNP	G	G	A	rs587719231		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr19:40395884G>A	ENST00000221347.6	-	15	7520	c.7513C>T	c.(7513-7515)Cga>Tga	p.R2505*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2505	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACACTGACTCGCCCATTACCC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		22912	0.0		0.001	False		,,,				2504	0.0					ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7513-7515)Cga>Tga		Fc fragment of IgG binding protein							104.0	93.0	97.0					19																	40395884		2166	3905	6071	SO:0001587	stop_gained	8857					extracellular region	protein binding	g.chr19:40395884G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7513C>T	19.37:g.40395884G>A	ENSP00000221347:p.Arg2505*						p.R2505*	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7520	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2505			VWFD 6.		O95784	Nonsense_Mutation	SNP	ENST00000221347.6	37	c.7513C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	47	13.703903	0.99758	.	.	ENSG00000090920	ENST00000221347	.	.	.	2.05	-4.11	0.03928	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	2.1228	0.03730	0.1316:0.1212:0.1928:0.5544	.	.	.	.	X	2505	.	ENSP00000221347:R2505X	R	-	1	2	FCGBP	45087724	0.000000	0.05858	0.001000	0.08648	0.667000	0.39255	-1.715000	0.01880	-1.126000	0.02929	0.298000	0.19748	CGA		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		18	101	0	0	0	1	0	18	101				
OR2J2	26707	broad.mit.edu	37	6	29141930	29141930	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr6:29141930G>A	ENST00000377167.2	+	1	620	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TGTGGACATCGCCTAGTGGAT	0.468																																						ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(517-519)cGc>cAc		olfactory receptor, family 2, subfamily J, member 2							194.0	175.0	181.0					6																	29141930		1946	4142	6088	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141930G>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.518G>A	6.37:g.29141930G>A	ENSP00000366372:p.Arg173His						p.R173H	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	620	+			173					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.518G>A	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	G	2.148	-0.395248	0.04899	.	.	ENSG00000204700	ENST00000377167	T	0.00107	8.72	2.3	-2.05	0.07321	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00039	0.0001	N	0.16307	0.4	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.01635	-1.1307	9	0.21540	T	0.41	.	8.1128	0.30924	0.7892:0.0:0.2108:0.0	.	173	O76002	OR2J2_HUMAN	H	173	ENSP00000366372:R173H	ENSP00000366372:R173H	R	+	2	0	OR2J2	29249909	0.000000	0.05858	0.981000	0.43875	0.440000	0.31957	0.289000	0.18957	-0.483000	0.06772	0.205000	0.17691	CGC		0.468	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			37	121	0	0	0	1	0	37	121				
TLN2	83660	broad.mit.edu	37	15	62993383	62993383	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr15:62993383G>A	ENST00000561311.1	+	16	1896	c.1666G>A	c.(1666-1668)Gga>Aga	p.G556R	TLN2_ENST00000306829.6_Missense_Mutation_p.G556R			Q9Y4G6	TLN2_HUMAN	talin 2	556					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TATCACGGCCGGAACGGCTTC	0.438																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(1666-1668)Gga>Aga		talin 2							88.0	74.0	79.0					15																	62993383		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62993383G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1666G>A	15.37:g.62993383G>A	ENSP00000453508:p.Gly556Arg					TLN2_ENST00000306829.6_Missense_Mutation_p.G556R	p.G556R			Q9Y4G6	TLN2_HUMAN			16	1896	+			556					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.1666G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511313	0.85389	.	.	ENSG00000171914	ENST00000306829	T	0.69175	-0.38	5.65	5.65	0.86999	Talin, central (3);	0.000000	0.85682	D	0.000000	T	0.81889	0.4918	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82456	-0.0448	10	0.87932	D	0	-21.0459	20.0965	0.97849	0.0:0.0:1.0:0.0	.	556	Q9Y4G6	TLN2_HUMAN	R	556	ENSP00000303476:G556R	ENSP00000303476:G556R	G	+	1	0	TLN2	60780675	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	8.009000	0.88606	2.824000	0.97209	0.655000	0.94253	GGA		0.438	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	58	0	0	0	1	0	3	58				
PRAMEF1	65121	broad.mit.edu	37	1	12855943	12855943	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr1:12855943G>T	ENST00000332296.7	+	4	1326	c.1223G>T	c.(1222-1224)aGc>aTc	p.S408I	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.S163I	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	408					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAAGTTAAGCCTGGAGACG	0.542																																						ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1222-1224)aGc>aTc		PRAME family member 1							34.0	35.0	35.0					1																	12855943		2198	4288	6486	SO:0001583	missense	65121							g.chr1:12855943G>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1223G>T	1.37:g.12855943G>T	ENSP00000332134:p.Ser408Ile					PRAMEF1_ENST00000400814.3_Missense_Mutation_p.S163I	p.S408I	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1326	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	408					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.1223G>T	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	11.86	1.763307	0.31228	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.07021	3.23;3.23	1.56	0.534	0.17127	.	1.433700	0.04128	N	0.317456	T	0.10594	0.0259	L	0.34521	1.04	0.09310	N	1	P	0.46952	0.887	P	0.48921	0.595	T	0.27606	-1.0069	10	0.33940	T	0.23	.	5.4772	0.16702	0.0:0.3576:0.6424:0.0	.	408	O95521	PRAM1_HUMAN	I	408;163	ENSP00000332134:S408I;ENSP00000383616:S163I	ENSP00000332134:S408I	S	+	2	0	PRAMEF1	12778530	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.343000	0.02642	0.178000	0.19917	0.205000	0.17691	AGC		0.542	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		5	106	1	0	0.00198382	1	0.00206161	5	106				
KCNK2	3776	broad.mit.edu	37	1	215408192	215408192	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr1:215408192G>A	ENST00000444842.2	+	7	1135	c.985G>A	c.(985-987)Gct>Act	p.A329T	KCNK2_ENST00000391895.2_Missense_Mutation_p.A325T|KCNK2_ENST00000391894.2_Missense_Mutation_p.A314T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	329					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	CAGAGCACACGCTGCTGAGTG	0.458																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(985-987)Gct>Act		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						102.0	103.0	103.0					1																	215408192		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408192G>A	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.985G>A	1.37:g.215408192G>A	ENSP00000394033:p.Ala329Thr					KCNK2_ENST00000391894.2_Missense_Mutation_p.A314T|KCNK2_ENST00000391895.2_Missense_Mutation_p.A325T	p.A329T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1135	+			329					A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.985G>A	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	G	33	5.216304	0.95104	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.22743	1.94;1.94;1.94	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.987;0.999	T	0.02683	-1.1124	10	0.45353	T	0.12	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	314;329;325	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	T	325;314;329	ENSP00000375765:A325T;ENSP00000375764:A314T;ENSP00000394033:A329T	ENSP00000375764:A314T	A	+	1	0	KCNK2	213474815	1.000000	0.71417	0.897000	0.35233	0.868000	0.49771	9.869000	0.99810	2.813000	0.96785	0.561000	0.74099	GCT		0.458	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		23	57	0	0	0	1	0	23	57				
LZTS1	11178	broad.mit.edu	37	8	20110316	20110316	+	Missense_Mutation	SNP	C	C	T	rs371854944		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr8:20110316C>T	ENST00000381569.1	-	3	1483	c.1126G>A	c.(1126-1128)Gcg>Acg	p.A376T	LZTS1_ENST00000265801.6_Missense_Mutation_p.A376T|LZTS1_ENST00000522290.1_Missense_Mutation_p.A376T			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	376					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCTCCAGCGCGGGGCCGAAG	0.662																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1126-1128)Gcg>Acg		leucine zipper, putative tumor suppressor 1		C	THR/ALA	2,4404		0,2,2201	32.0	34.0	33.0		1126	4.7	0.1	8		33	0,8600		0,0,4300	no	missense	LZTS1	NM_021020.2	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	376/597	20110316	2,13004	2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110316C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1126G>A	8.37:g.20110316C>T	ENSP00000370981:p.Ala376Thr					LZTS1_ENST00000522290.1_Missense_Mutation_p.A376T|LZTS1_ENST00000265801.6_Missense_Mutation_p.A376T	p.A376T			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	3	1483	-			376					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1126G>A	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	C	0.752	-0.772577	0.02951	4.54E-4	0.0	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.21031	2.34;2.34;2.03	5.6	4.73	0.59995	.	0.155847	0.64402	N	0.000018	T	0.15825	0.0381	L	0.36672	1.1	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.08055	0.003;0.002	T	0.15122	-1.0448	10	0.35671	T	0.21	-17.677	8.3432	0.32256	0.1539:0.7674:0.0:0.0788	.	376;376	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	T	376	ENSP00000370981:A376T;ENSP00000265801:A376T;ENSP00000429263:A376T	ENSP00000265801:A376T	A	-	1	0	LZTS1	20154596	0.096000	0.21769	0.136000	0.22124	0.871000	0.50021	0.649000	0.24843	1.378000	0.46305	0.561000	0.74099	GCG		0.662	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		8	26	0	0	0	1	0	8	26				
PARP8	79668	broad.mit.edu	37	5	50074463	50074463	+	Missense_Mutation	SNP	A	A	G	rs369907021		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr5:50074463A>G	ENST00000281631.5	+	9	807	c.649A>G	c.(649-651)Aca>Gca	p.T217A	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.T217A|PARP8_ENST00000505554.1_Missense_Mutation_p.T196A|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.T217A|PARP8_ENST00000514067.2_Missense_Mutation_p.T217A	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	217						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTGTTCACTTACACAGTATTT	0.318																																						ENST00000281631.5																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(649-651)Aca>Gca		poly (ADP-ribose) polymerase family, member 8		A	ALA/THR,ALA/THR,ALA/THR	1,4405	2.1+/-5.4	0,1,2202	44.0	46.0	45.0		649,649,649	5.7	1.0	5		45	0,8600		0,0,4300	no	missense,missense,missense	PARP8	NM_001178055.1,NM_001178056.1,NM_024615.3	58,58,58	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	217/855,217/813,217/855	50074463	1,13005	2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50074463A>G	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.649A>G	5.37:g.50074463A>G	ENSP00000281631:p.Thr217Ala					PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505554.1_Missense_Mutation_p.T196A|PARP8_ENST00000503750.2_Missense_Mutation_p.T217A|PARP8_ENST00000514067.2_Missense_Mutation_p.T217A|PARP8_ENST00000505697.2_Missense_Mutation_p.T217A|PARP8_ENST00000511363.2_3'UTR	p.T217A	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN			9	807	+		Lung NSC(810;0.0305)|Breast(144;0.222)	217					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.649A>G	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453682	0.63290	2.27E-4	0.0	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	L	0.29908	0.895	0.80722	D	1	P;P;P	0.52842	0.956;0.865;0.956	D;B;D	0.65010	0.931;0.354;0.931	T	0.60905	-0.7170	8	.	.	.	-15.1241	14.2659	0.66118	1.0:0.0:0.0:0.0	.	109;217;217	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	A	217;217;217;217;196	.	.	T	+	1	0	PARP8	50110220	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	4.858000	0.62947	2.302000	0.77476	0.533000	0.62120	ACA		0.318	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615		38	65	0	0	0	1	0	38	65				
TET3	200424	broad.mit.edu	37	2	74329100	74329100	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr2:74329100C>T	ENST00000409262.3	+	9	4780	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1594					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAGGCTGCCCGGCTGGGCCT	0.662																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(4780-4782)Cgg>Tgg		tet methylcytosine dioxygenase 3							11.0	15.0	14.0					2																	74329100		2009	4145	6154	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74329100C>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4780C>T	2.37:g.74329100C>T	ENSP00000386869:p.Arg1594Trp						p.R1594W	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			9	4780	+			1594					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.4780C>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.517283	0.44763	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.13901	2.55	5.18	4.29	0.51040	.	0.231264	0.37304	N	0.002150	T	0.28665	0.0710	L	0.54323	1.7	0.35730	D	0.817885	D	0.89917	1.0	D	0.64687	0.928	T	0.31024	-0.9958	10	0.54805	T	0.06	.	11.885	0.52598	0.3167:0.6833:0.0:0.0	.	1594	O43151	TET3_HUMAN	W	1594;1478	ENSP00000386869:R1594W	ENSP00000233310:R1478W	R	+	1	2	TET3	74182608	0.767000	0.28508	0.994000	0.49952	0.707000	0.40811	1.386000	0.34419	1.383000	0.46405	0.655000	0.94253	CGG		0.662	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			18	17	0	0	0	1	0	18	17				
CDK7	1022	broad.mit.edu	37	5	68565120	68565120	+	Splice_Site	SNP	G	G	A	rs111845256		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr5:68565120G>A	ENST00000256443.3	+	9	817	c.714G>A	c.(712-714)ccG>ccA	p.P238P	CDK7_ENST00000514676.1_Splice_Site_p.P201P|CDK7_ENST00000502604.1_Splice_Site_p.P145P|CDK7_ENST00000513629.1_3'UTR	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		AACAGTGGCCGGTAAGCCTTT	0.363								Nucleotide excision repair (NER)																														ENST00000502604.1																			0				endometrium(1)|lung(2)	3						c.e8+1	Nucleotide excision repair (NER)	cyclin-dependent kinase 7		G		0,4406		0,0,2203	92.0	85.0	87.0		714	1.3	1.0	5	dbSNP_132	87	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice	CDK7	NM_001799.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		238/347	68565120	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1022				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	g.chr5:68565120G>A		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.714+1G>A	5.37:g.68565120G>A						CDK7_ENST00000256443.3_Splice_Site_p.P238_splice|CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000514676.1_Splice_Site_p.P201_splice	p.P145_splice			P50613	CDK7_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)	8	925	+		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	238			Protein kinase.		Q9BS60|Q9UE19	Splice_Site	SNP	ENST00000256443.3	37	c.435_splice	CCDS3999.1																																																																																				0.363	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216802.3	NM_001799	Silent	4	77	0	0	0	1	0	4	77				
CLEC17A	388512	broad.mit.edu	37	19	14710850	14710850	+	Silent	SNP	C	C	T			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr19:14710850C>T	ENST00000417570.1	+	12	788	c.750C>T	c.(748-750)cgC>cgT	p.R250R	CLEC17A_ENST00000547437.1_Silent_p.R250R|CLEC17A_ENST00000397439.2_Silent_p.R233R	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	250						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										CAGACTGCCGCCGAATTACCT	0.552																																						ENST00000547437.1																			0											c.(748-750)cgC>cgT		C-type lectin domain family 17, member A							52.0	51.0	51.0					19																	14710850		1973	4160	6133	SO:0001819	synonymous_variant	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14710850C>T	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.750C>T	19.37:g.14710850C>T						CLEC17A_ENST00000417570.1_Silent_p.R250R|CLEC17A_ENST00000397439.2_Silent_p.R233R	p.R250R	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			12	827	+			250					A8MX68|B2RTX0|B7ZMM4	Silent	SNP	ENST00000417570.1	37	c.750C>T	CCDS56087.1																																																																																				0.552	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		28	41	0	0	0	1	0	28	41				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	88	0	0	0	1	0	5	88				
GOLGA2P9	440518	broad.mit.edu	37	19	22783087	22783087	+	RNA	SNP	A	A	T			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr19:22783087A>T	ENST00000599738.1	+	0	0				AC011467.1_ENST00000408863.1_RNA|RN7SL860P_ENST00000473738.2_RNA|CTC-457E21.3_ENST00000600260.1_RNA																							CTCCAAGCCCAGGTACAGGAC	0.642																																						ENST00000600260.1																			0																																																			0							g.chr19:22783087A>T																													19.37:g.22783087A>T								NR_033899.1						0	594	+									RNA	SNP	ENST00000599738.1	37																																																																																						0.642	CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000464575.1			5	12	0	0	0	1	0	5	12				
ZC2HC1A	51101	broad.mit.edu	37	8	79598725	79598725	+	Silent	SNP	T	T	C			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr8:79598725T>C	ENST00000263849.4	+	4	336	c.234T>C	c.(232-234)tcT>tcC	p.S78S	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	78							metal ion binding (GO:0046872)										AGAAACCATCTAATTGGAGAA	0.338																																						ENST00000263849.4																			0											c.(232-234)tcT>tcC		zinc finger, C2HC-type containing 1A							54.0	48.0	50.0					8																	79598725		2202	4300	6502	SO:0001819	synonymous_variant	51101							g.chr8:79598725T>C		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.234T>C	8.37:g.79598725T>C						ZC2HC1A_ENST00000521176.1_3'UTR	p.S78S	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			4	336	+			78					Q9Y372	Silent	SNP	ENST00000263849.4	37	c.234T>C	CCDS6223.1																																																																																				0.338	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		4	7	0	0	0	1	0	4	7				
RIN3	79890	broad.mit.edu	37	14	93125791	93125791	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr14:93125791A>T	ENST00000216487.7	+	7	2471	c.2312A>T	c.(2311-2313)gAc>gTc	p.D771V	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	771	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CTCATCTACGACTCCATGGCC	0.567																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(2311-2313)gAc>gTc		Ras and Rab interactor 3							105.0	87.0	93.0					14																	93125791		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93125791A>T	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.2312A>T	14.37:g.93125791A>T	ENSP00000216487:p.Asp771Val					RIN3_ENST00000418924.2_3'UTR	p.D771V	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			7	2471	+		all_cancers(154;0.0701)	771			VPS9.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.2312A>T	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791483	0.70452	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.29397	1.57	5.84	5.84	0.93424	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.52108	0.1714	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.995;0.998;0.998;1.0	D;D;D;D	0.81914	0.941;0.985;0.977;0.995	T	0.53330	-0.8454	10	0.87932	D	0	-39.74	16.2045	0.82114	1.0:0.0:0.0:0.0	.	771;817;696;771	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	V	771;695	ENSP00000216487:D771V	ENSP00000216487:D771V	D	+	2	0	RIN3	92195544	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.995000	0.70631	2.234000	0.73211	0.459000	0.35465	GAC		0.567	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			9	49	0	0	0	1	0	9	49				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G	rs188158697		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr15:22473333A>G	ENST00000557788.2	-	0	20							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											CCAGGAGGAGAAAGAACCACA	0.512																																						ENST00000557788.2																			0																																																			0							g.chr15:22473333A>G	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473333A>G														0	20	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.512	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			3	56	0	0	0	1	0	3	56				
ITFG1	81533	broad.mit.edu	37	16	47196504	47196504	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr16:47196504C>T	ENST00000320640.6	-	15	1753	c.1525G>A	c.(1525-1527)Gca>Aca	p.A509T	RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	509						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGAAAATTTGCGCTCCGACCT	0.358																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1525-1527)Gca>Aca		integrin alpha FG-GAP repeat containing 1							101.0	103.0	102.0					16																	47196504		2202	4300	6502	SO:0001583	missense	81533					extracellular region|integral to membrane		g.chr16:47196504C>T	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1525G>A	16.37:g.47196504C>T	ENSP00000319918:p.Ala509Thr					ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.A396T|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA	p.A509T	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			15	1753	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	509					Q96SR4|Q9BRE2|Q9H2V9	Missense_Mutation	SNP	ENST00000320640.6	37	c.1525G>A	CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	35	5.478197	0.96291	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	T;T	0.62498	0.02;0.02	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	L	0.45581	1.43	0.80722	D	1	P;D	0.89917	0.953;1.0	B;D	0.66084	0.292;0.941	T	0.62469	-0.6848	10	0.02654	T	1	-17.4271	19.4863	0.95030	0.0:1.0:0.0:0.0	.	396;509	F5GXC5;Q8TB96	.;TIP_HUMAN	T	509;169;254;396	ENSP00000319918:A509T;ENSP00000441062:A396T	ENSP00000319918:A509T	A	-	1	0	ITFG1	45754005	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	5.177000	0.65032	2.618000	0.88619	0.591000	0.81541	GCA		0.358	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		3	62	0	0	0	1	0	3	62				
NDN	4692	broad.mit.edu	37	15	23932059	23932059	+	Silent	SNP	C	C	T			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr15:23932059C>T	ENST00000331837.4	-	1	391	c.306G>A	c.(304-306)gcG>gcA	p.A102A		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	102	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGAGCTCGTGCGCCTTCTGCA	0.657									Prader-Willi syndrome																													ENST00000331837.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39						c.(304-306)gcG>gcA		necdin, melanoma antigen (MAGE) family member							58.0	54.0	55.0					15																	23932059		2203	4300	6503	SO:0001819	synonymous_variant	4692	Prader-Willi syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932059C>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.306G>A	15.37:g.23932059C>T							p.A102A	NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	391	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	102			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.306G>A	CCDS10014.1																																																																																				0.657	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		19	96	0	0	0	1	0	19	96				
DOCK8	81704	broad.mit.edu	37	9	449902	449902	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr9:449902G>A	ENST00000453981.1	+	45	6048	c.5936G>A	c.(5935-5937)gGc>gAc	p.G1979D	DOCK8_ENST00000469391.1_Missense_Mutation_p.G1879D|DOCK8_ENST00000382329.1_Missense_Mutation_p.G1446D|DOCK8_ENST00000432829.2_Missense_Mutation_p.G1911D			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1979	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GTGCTGCAAGGCTCTGTGGGA	0.473																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(5731-5733)gGc>gAc		dedicator of cytokinesis 8							90.0	86.0	87.0					9																	449902		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:449902G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5936G>A	9.37:g.449902G>A	ENSP00000408464:p.Gly1979Asp					DOCK8_ENST00000382329.1_Missense_Mutation_p.G1446D|DOCK8_ENST00000469391.1_Missense_Mutation_p.G1879D|DOCK8_ENST00000453981.1_Missense_Mutation_p.G1979D	p.G1911D	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	45	6048	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1979					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.5732G>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	34	5.300997	0.95601	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80051	-0.1544	10	0.87932	D	0	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	1879;1446;1979	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	D	1979;1947;1911;1879;1446	ENSP00000408464:G1979D;ENSP00000394888:G1911D;ENSP00000419438:G1879D;ENSP00000371766:G1446D	ENSP00000287364:G1947D	G	+	2	0	DOCK8	439902	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.446000	0.97590	2.882000	0.98803	0.655000	0.94253	GGC		0.473	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		36	25	0	0	0	1	0	36	25				
JUND	3727	broad.mit.edu	37	19	18391896	18391896	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr19:18391896C>A	ENST00000252818.3	-	1	536	c.399G>T	c.(397-399)gaG>gaT	p.E133D	MIR3188_ENST00000583494.1_RNA	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	133					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|circadian rhythm (GO:0007623)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|nucleus (GO:0005634)|protein complex (GO:0043234)	double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			lung(2)|prostate(1)	3						CGAACTCCTGCTCCTCGCTGG	0.706																																						ENST00000252818.3																			0				lung(2)|prostate(1)	3						c.(397-399)gaG>gaT		jun D proto-oncogene							17.0	18.0	17.0					19																	18391896		2196	4288	6484	SO:0001583	missense	3727				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr19:18391896C>A		CCDS32959.1	19p13.2	2013-01-10				ENSG00000130522		"""basic leucine zipper proteins"""	6206	protein-coding gene	gene with protein product	"""transcription factor jun-D"", ""JunD-FL isoform"", ""activator protein 1"""	165162				2112242, 1903194	Standard	NM_005354		Approved	AP-1	uc002nip.2	P17535		ENST00000252818.3:c.399G>T	19.37:g.18391896C>A	ENSP00000252818:p.Glu133Asp						p.E133D	NM_005354.4	NP_005345.3	P17535	JUND_HUMAN			1	536	-			133					Q53EK9	Missense_Mutation	SNP	ENST00000252818.3	37	c.399G>T	CCDS32959.1	.	.	.	.	.	.	.	.	.	.	.	24.8	4.575454	0.86645	.	.	ENSG00000130522	ENST00000252818	T	0.33654	1.4	3.06	3.06	0.35304	Jun-like transcription factor (1);	0.152965	0.43416	U	0.000577	T	0.32133	0.0819	L	0.36672	1.1	0.50813	D	0.999893	P	0.38711	0.643	B	0.42245	0.381	T	0.20107	-1.0285	10	0.51188	T	0.08	.	11.9982	0.53216	0.0:1.0:0.0:0.0	.	133	P17535	JUND_HUMAN	D	133	ENSP00000252818:E133D	ENSP00000252818:E133D	E	-	3	2	JUND	18252896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.958000	0.40402	1.741000	0.51731	0.537000	0.68136	GAG		0.706	JUND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466318.2	NM_005354		4	11	1	0	0.184627	1	0.184627	4	11				
CCDC88A	55704	broad.mit.edu	37	2	55523004	55523004	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr2:55523004T>G	ENST00000436346.1	-	31	6121	c.5280A>C	c.(5278-5280)aaA>aaC	p.K1760N	CCDC88A_ENST00000263630.8_Missense_Mutation_p.K1732N|CCDC88A_ENST00000413716.2_Intron|CCDC88A_ENST00000422883.2_Missense_Mutation_p.K261N|CCDC88A_ENST00000336838.6_Missense_Mutation_p.K1759N	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1760					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TATCTTCAGTTTTTCGAGGAC	0.428																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(5278-5280)aaA>aaC		coiled-coil domain containing 88A							84.0	86.0	85.0					2																	55523004		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55523004T>G	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.5280A>C	2.37:g.55523004T>G	ENSP00000410608:p.Lys1760Asn					CCDC88A_ENST00000263630.8_Missense_Mutation_p.K1732N|CCDC88A_ENST00000413716.2_Intron|CCDC88A_ENST00000422883.2_Missense_Mutation_p.K261N|CCDC88A_ENST00000336838.6_Missense_Mutation_p.K1759N	p.K1760N	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			31	6121	-			1760					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.5280A>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	12.02|12.02|12.02	1.813264|1.813264|1.813264	0.32053|0.32053|0.32053	.|.|.	.|.|.	ENSG00000115355|ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000426576|ENST00000444458|ENST00000456975	T;T;T;T;T|.|.	0.55052|.|.	2.25;2.22;2.48;0.54;1.16|.|.	5.08|5.08|5.08	3.26|3.26|3.26	0.37387|0.37387|0.37387	.|.|.	0.125790|0.125790|.	0.34906|0.34906|.	U|U|.	0.003589|0.003589|.	T|T|T	0.49949|0.49949|0.49949	0.1587|0.1587|0.1587	L|L|L	0.46157|0.46157|0.46157	1.445|1.445|1.445	0.34227|0.34227|0.34227	D|D|D	0.676069|0.676069|0.676069	P;P;D;P;D;P|.|.	0.67145|.|.	0.928;0.905;0.996;0.756;0.973;0.928|.|.	P;P;D;B;P;P|.|.	0.77557|.|.	0.647;0.526;0.99;0.287;0.798;0.647|.|.	T|T|T	0.57248|0.57248|0.57248	-0.7844|-0.7844|-0.7844	10|7|5	0.38643|0.72032|.	T|D|.	0.18|0.01|.	-15.6596|-15.6596|-15.6596	8.3706|8.3706|8.3706	0.32412|0.32412|0.32412	0.0:0.6128:0.0:0.3872|0.0:0.6128:0.0:0.3872|0.0:0.6128:0.0:0.3872	.|.|.	1732;1677;261;1760;1759;1731|.|.	Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.|.	.;.;.;GRDN_HUMAN;.;.|.|.	N|T|H	1759;1732;1760;261;777;935|263|713	ENSP00000338728:K1759N;ENSP00000263630:K1732N;ENSP00000410608:K1760N;ENSP00000390012:K777N;ENSP00000405080:K935N|.|.	ENSP00000263630:K1732N|ENSP00000413401:K263T|.	K|K|N	-|-|-	3|2|1	2|0|0	CCDC88A|CCDC88A|CCDC88A	55376508|55376508|55376508	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.977000|0.977000|0.977000	0.68977|0.68977|0.68977	0.997000|0.997000|0.997000	0.29731|0.29731|0.29731	0.618000|0.618000|0.618000	0.30179|0.30179|0.30179	-0.468000|-0.468000|-0.468000	0.05107|0.05107|0.05107	AAA|AAA|AAC		0.428	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		26	66	0	0	0	1	0	26	66				
SCN7A	6332	broad.mit.edu	37	2	167328878	167328878	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr2:167328878G>A	ENST00000409855.1	-	5	647	c.521C>T	c.(520-522)tCc>tTc	p.S174F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	174					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ACCGAGGAAGGAAAATGATCC	0.348																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(520-522)tCc>tTc		sodium channel, voltage-gated, type VII, alpha subunit							51.0	51.0	51.0					2																	167328878		1888	4150	6038	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167328878G>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.521C>T	2.37:g.167328878G>A	ENSP00000386796:p.Ser174Phe						p.S174F	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			5	647	-			174						Missense_Mutation	SNP	ENST00000409855.1	37	c.521C>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929664	0.52759	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.97279	-4.32;-4.32;-4.32	5.37	3.45	0.39498	Ion transport (1);	0.502069	0.18563	N	0.137562	D	0.95345	0.8489	M	0.70595	2.14	0.32279	N	0.567884	B	0.15930	0.015	B	0.18263	0.021	D	0.94153	0.7407	10	0.72032	D	0.01	.	8.0343	0.30482	0.0885:0.0:0.7065:0.2051	.	174	Q01118	SCN7A_HUMAN	F	174	ENSP00000386796:S174F;ENSP00000413699:S174F;ENSP00000403846:S174F	ENSP00000259060:S174F	S	-	2	0	SCN7A	167037124	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	5.894000	0.69806	0.635000	0.30488	0.655000	0.94253	TCC		0.348	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			8	5	0	0	0	1	0	8	5				
SRSF4	6429	broad.mit.edu	37	1	29475219	29475221	+	In_Frame_Del	DEL	CTT	CTT	-	rs138237342		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr1:29475219_29475221delCTT	ENST00000373795.4	-	6	1420_1422	c.1186_1188delAAG	c.(1186-1188)aagdel	p.K396del	SRSF4_ENST00000466448.1_5'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	396	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CAGTGTCTTCCTTCTTCTTCTTC	0.601																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(1186-1188)del		serine/arginine-rich splicing factor 4				32,4234		1,30,2102						4.8	1.0			113	49,8205		3,43,4081	no	coding	SRSF4	NM_005626.4		4,73,6183	A1A1,A1R,RR		0.5937,0.7501,0.647				81,12439				SO:0001651	inframe_deletion	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475219_29475221delCTT	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1186_1188delAAG	1.37:g.29475228_29475230delCTT	ENSP00000362900:p.Lys396del					SRSF4_ENST00000546138.1_3'UTR|SRSF4_ENST00000466448.1_5'UTR	p.K396del	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			6	1420_1422	-			396			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	In_Frame_Del	DEL	ENST00000373795.4	37	c.1186_1188delAAG	CCDS333.1																																																																																				0.601	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		7	174						7	174	---	---	---	---
CCT4	10575	broad.mit.edu	37	2	62099679	62099681	+	In_Frame_Del	DEL	AAC	AAC	-	rs201767216		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr2:62099679_62099681delAAC	ENST00000394440.3	-	11	1464_1466	c.1168_1170delGTT	c.(1168-1170)gttdel	p.V390del	CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544079.1_In_Frame_Del_p.V360del|CCT4_ENST00000544185.1_In_Frame_Del_p.V240del|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_In_Frame_Del_p.V334del	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	390					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TAGAACCACGAACAACAATTGTA	0.404																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(1168-1170)del		chaperonin containing TCP1, subunit 4 (delta)																																				SO:0001651	inframe_deletion	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62099679_62099681delAAC		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1168_1170delGTT	2.37:g.62099682_62099684delAAC	ENSP00000377958:p.Val390del					AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_In_Frame_Del_p.V360del|CCT4_ENST00000538252.1_In_Frame_Del_p.V334del|CCT4_ENST00000544185.1_In_Frame_Del_p.V240del|CCT4_ENST00000461540.2_Intron	p.V390del	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		11	1464_1466	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		390					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	In_Frame_Del	DEL	ENST00000394440.3	37	c.1168_1170delGTT	CCDS33206.1																																																																																				0.404	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			9	94						9	94	---	---	---	---
C16orf90	646174	broad.mit.edu	37	16	3546140	3546141	+	5'Flank	INS	-	-	A	rs200618809|rs74546027		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr16:3546140_3546141insA	ENST00000437192.3	-	0	0				LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90											large_intestine(1)	1						gactccgtctcaaaaaaaaaaa	0.559																																						ENST00000574423.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:3546140_3546141insA		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627		16.37:g.3546151_3546151dupA	Exception_encountered													0	111	+									RNA	INS	ENST00000437192.3	37		CCDS45397.1																																																																																				0.559	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		2	4						2	4	---	---	---	---
PPL	5493	broad.mit.edu	37	16	4960866	4960867	+	Frame_Shift_Del	DEL	CT	CT	-	rs200460600		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr16:4960866_4960867delCT	ENST00000345988.2	-	2	235_236	c.146_147delAG	c.(145-147)gagfs	p.E49fs	PPL_ENST00000590782.2_Frame_Shift_Del_p.E49fs	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	49					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCATCTTGGCCTCTGTGTCCAC	0.589																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(145-147)gfs		periplakin																																				SO:0001589	frameshift_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4960866_4960867delCT	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.146_147delAG	16.37:g.4960868_4960869delCT	ENSP00000340510:p.Glu49fs					PPL_ENST00000590782.2_Frame_Shift_Del_p.E49fs	p.E49fs	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			2	235_236	-			49					O60314|O60454|Q14C98	Frame_Shift_Del	DEL	ENST00000345988.2	37	c.146_147delAG	CCDS10526.1																																																																																				0.589	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		13	95						13	95	---	---	---	---
CHD9	80205	broad.mit.edu	37	16	53269119	53269119	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr16:53269119delG	ENST00000398510.3	+	10	2621	c.2534delG	c.(2533-2535)tggfs	p.W845fs	CHD9_ENST00000447540.1_Frame_Shift_Del_p.W845fs|CHD9_ENST00000564845.1_Frame_Shift_Del_p.W845fs|CHD9_ENST00000566029.1_Frame_Shift_Del_p.W845fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	845					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCTAATATTTGGAAGAAAATA	0.358																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(2533-2535)tgfs		chromodomain helicase DNA binding protein 9							47.0	43.0	44.0					16																	53269119		1802	4035	5837	SO:0001589	frameshift_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53269119delG	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2534delG	16.37:g.53269119delG	ENSP00000381522:p.Trp845fs					CHD9_ENST00000447540.1_Frame_Shift_Del_p.W845fs|CHD9_ENST00000564845.1_Frame_Shift_Del_p.W845fs|CHD9_ENST00000398510.3_Frame_Shift_Del_p.W845fs	p.W845fs			Q3L8U1	CHD9_HUMAN			11	2743	+		all_cancers(37;0.0212)	845					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Frame_Shift_Del	DEL	ENST00000398510.3	37	c.2534delG																																																																																					0.358	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578495	7578501	+	Frame_Shift_Del	DEL	CAGCTGC	CAGCTGC	-	rs587782197		TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr17:7578495_7578501delCAGCTGC	ENST00000269305.4	-	5	618_624	c.429_435delGCAGCTG	c.(427-435)gtgcagctgfs	p.VQL143fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.VQL143fs	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	143	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius; severely represses interaction with ZNF385A).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.Q144*(36)|p.L145P(17)|p.L145Q(17)|p.Q144L(8)|p.0?(8)|p.L145L(8)|p.L145R(7)|p.Q144H(4)|p.Q144R(4)|p.Q144P(4)|p.Q144fs*25(3)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q12*(2)|p.Q144Q(2)|p.Q51*(2)|p.V143V(2)|p.L145V(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.L145del(1)|p.W146fs*25(1)|p.A138_V143delAKTCPV(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.Q51fs*25(1)|p.V143_S149del(1)|p.Q144_G154del11(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.Q144fs*4(1)|p.L145M(1)|p.Q12fs*25(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)	AATCAACCCACAGCTGCACAGGGCAGG	0.599		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"""		148	Substitution - Missense(66)|Substitution - Nonsense(40)|Deletion - Frameshift(13)|Substitution - coding silent(12)|Deletion - In frame(8)|Whole gene deletion(8)|Insertion - Frameshift(1)	p.Q144*(36)|p.L145P(17)|p.L145Q(17)|p.Q144L(8)|p.0?(8)|p.L145L(8)|p.L145R(7)|p.Q144H(4)|p.Q144R(4)|p.Q144P(4)|p.Q144fs*25(3)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q12*(2)|p.Q144Q(2)|p.Q51*(2)|p.V143V(2)|p.L145V(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.L145del(1)|p.W146fs*25(1)|p.A138_V143delAKTCPV(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.Q51fs*25(1)|p.V143_S149del(1)|p.Q144_G154del11(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.Q144fs*4(1)|p.L145M(1)|p.Q12fs*25(1)	breast(20)|upper_aerodigestive_tract(16)|lung(16)|large_intestine(15)|ovary(15)|oesophagus(12)|haematopoietic_and_lymphoid_tissue(9)|stomach(6)|central_nervous_system(6)|endometrium(6)|urinary_tract(5)|prostate(5)|bone(5)|pancreas(4)|liver(3)|skin(3)|soft_tissue(1)|biliary_tract(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	CM023462	TP53	M		c.(427-435)gtfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578495_7578501delCAGCTGC	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.429_435delGCAGCTG	17.37:g.7578495_7578501delCAGCTGC	ENSP00000269305:p.Val143fs	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_ENST00000455263.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.VQL143fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.VQL143fs	p.VQL143fs	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	561_567	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	143		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.429_435delGCAGCTG	CCDS11118.1																																																																																				0.599	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	37						10	37	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	CCT	-	rs62639328|rs557359374	byFrequency	TCGA-ZG-A9M4-01A-11D-A41K-08	TCGA-ZG-A9M4-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c32797e-d804-4cab-a0c1-2aebeed8f037	231d6294-d947-400e-a0c1-15694c4839c9	g.chr19:46299165_46299167delCCT	ENST00000221538.3	-	6	2256_2258	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_ENST00000600188.1_In_Frame_Del_p.E441del|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	705	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(2113-2118)ggc>g		radial spoke head 6 homolog A (Chlamydomonas)																																				SO:0001651	inframe_deletion	81492					intracellular		g.chr19:46299165_46299167delCCT	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.2114_2116delAGG	19.37:g.46299174_46299176delCCT	ENSP00000221538:p.Glu705del					RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del	p.EG705del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			6	2256_2258	-			705			Glu-rich.		Q53FE2|Q6PEZ9	In_Frame_Del	DEL	ENST00000221538.3	37	c.2114_2116delAGG	CCDS12675.1																																																																																				0.586	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			7	81						7	81	---	---	---	---
