#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
SLC7A11	23657	hgsc.bcm.edu	37	4	139093116	139093117	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr4:139093116_139093117insT	ENST00000280612.5	-	12	1778_1779	c.1499_1500insA	c.(1498-1500)aagfs	p.K500fs	SLC7A11-AS1_ENST00000512538.1_RNA|SLC7A11-AS1_ENST00000512786.1_RNA|SLC7A11-AS1_ENST00000510767.1_RNA	NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	500					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)	p.L501fs*>2(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	TAGTTCATAACTTATCTTCTTC	0.312																																					p.K500fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1500_1501insA	4						.																																			139312567	SO:0001589	frameshift_variant	23657	exon12			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.1500dupA	4.37:g.139093118_139093118dupT	ENSP00000280612:p.Lys500fs		139312566	NM_014331	A8K2U4	Frame_Shift_Ins	INS	ENST00000280612.5	37	CCDS3742.1																																																																																				0.312	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2		
LRGUK	136332	hgsc.bcm.edu	37	7	133933772	133933772	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr7:133933772T>G	ENST00000285928.2	+	18	2211	c.2142T>G	c.(2140-2142)agT>agG	p.S714R		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	714						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.S714R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TCTGGAAAAGTTTTGATCTTT	0.368																																					p.S714R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2142G	7						.						90.0	92.0	91.0					7																	133933772		2203	4300	6503	133584312	SO:0001583	missense	136332	exon18			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.2142T>G	7.37:g.133933772T>G	ENSP00000285928:p.Ser714Arg		133584312	NM_144648	Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	T	9.186	1.024881	0.19433	.	.	ENSG00000155530	ENST00000285928	T	0.36157	1.27	4.52	-2.23	0.06930	.	0.907551	0.09586	N	0.782176	T	0.19327	0.0464	L	0.27053	0.805	0.09310	N	1	B	0.26002	0.139	B	0.22386	0.039	T	0.26985	-1.0087	10	0.72032	D	0.01	0.052	0.9252	0.01323	0.1541:0.1819:0.3185:0.3455	.	714	Q96M69	LRGUK_HUMAN	R	714	ENSP00000285928:S714R	ENSP00000285928:S714R	S	+	3	2	LRGUK	133584312	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.124000	0.10595	-0.359000	0.08150	-0.341000	0.08007	AGT		0.368	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648	
FAM180A	389558	hgsc.bcm.edu	37	7	135433277	135433277	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr7:135433277A>G	ENST00000338588.3	-	1	317	c.52T>C	c.(52-54)Tct>Cct	p.S18P	FAM180A_ENST00000435869.1_5'UTR|FAM180A_ENST00000415751.1_Missense_Mutation_p.S18P	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	18						extracellular region (GO:0005576)		p.S18P(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						TGGCACATAGAAGCCTCAGCA	0.423																																					p.S18P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T52C	7						.						211.0	214.0	213.0					7																	135433277		2203	4300	6503	135083817	SO:0001583	missense	389558	exon1			AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.52T>C	7.37:g.135433277A>G	ENSP00000342336:p.Ser18Pro		135083817	NM_205855	B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	A	2.808	-0.247625	0.05867	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.31247	1.5;1.5	5.19	2.77	0.32553	.	0.566902	0.18713	N	0.133256	T	0.12689	0.0308	N	0.08118	0	0.09310	N	1	B	0.29716	0.255	B	0.26416	0.069	T	0.17961	-1.0352	10	0.30078	T	0.28	-26.2472	4.7154	0.12893	0.1732:0.0919:0.0:0.7349	.	18	Q6UWF9	F180A_HUMAN	P	18	ENSP00000342336:S18P;ENSP00000395467:S18P	ENSP00000342336:S18P	S	-	1	0	FAM180A	135083817	0.436000	0.25586	0.013000	0.15412	0.014000	0.08584	0.575000	0.23729	0.366000	0.24427	-0.357000	0.07601	TCT		0.423	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855	
PRKD1	5587	hgsc.bcm.edu	37	14	30047487	30047487	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr14:30047487C>G	ENST00000331968.5	-	17	2743	c.2514G>C	c.(2512-2514)tgG>tgC	p.W838C	PRKD1_ENST00000415220.2_Missense_Mutation_p.W846C	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	838	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.W838C(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TTACCTGTAGCCAAGGGTGGC	0.313																																					p.W838C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2514C	14						.						86.0	84.0	85.0					14																	30047487		2203	4300	6503	29117238	SO:0001583	missense	5587	exon17				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2514G>C	14.37:g.30047487C>G	ENSP00000333568:p.Trp838Cys		29117238	NM_002742	A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774259	0.69992	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.69561	-0.41;-0.41	5.7	5.7	0.88788	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90126	0.6915	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93692	0.7008	10	0.87932	D	0	-20.5906	19.8276	0.96624	0.0:1.0:0.0:0.0	.	838	Q15139	KPCD1_HUMAN	C	838;846	ENSP00000333568:W838C;ENSP00000390535:W846C	ENSP00000333568:W838C	W	-	3	0	PRKD1	29117238	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.056000	0.71111	2.697000	0.92050	0.585000	0.79938	TGG		0.313	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742	
HHIPL1	84439	hgsc.bcm.edu	37	14	100135193	100135193	+	Intron	SNP	C	C	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr14:100135193C>T	ENST00000330710.5	+	7	1828				HHIPL1_ENST00000357223.2_Silent_p.P585P	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1						carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)	p.P585P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCGCCATGCCCGGCTATGTCC	0.572																																					p.P585P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1755T	14						.						91.0	89.0	90.0					14																	100135193		2203	4300	6503	99204946	SO:0001627	intron_variant	84439	exon8			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1730+553C>T	14.37:g.100135193C>T			99204946	NM_032425	A2RUF8|B2RN09|Q6UXX2	Silent	SNP	ENST00000330710.5	37	CCDS45162.1																																																																																				0.572	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566	
ZBED4	9889	hgsc.bcm.edu	37	22	50278821	50278821	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr22:50278821G>T	ENST00000216268.5	+	2	1988	c.1511G>T	c.(1510-1512)cGc>cTc	p.R504L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	504						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R504L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTCTACCGGCGCCATCCAGAA	0.587																																					p.R504L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1511T	22						.						92.0	98.0	96.0					22																	50278821		2203	4300	6503	48664825	SO:0001583	missense	9889	exon2			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1511G>T	22.37:g.50278821G>T	ENSP00000216268:p.Arg504Leu		48664825	NM_014838	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554526	0.65425	.	.	ENSG00000100426	ENST00000216268	T	0.52983	0.64	5.23	5.23	0.72850	Zinc finger, BED-type predicted (3);	0.000000	0.85682	D	0.000000	T	0.61590	0.2359	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	P	0.60012	0.867	T	0.63431	-0.6639	10	0.72032	D	0.01	-22.4347	18.5754	0.91153	0.0:0.0:1.0:0.0	.	504	O75132	ZBED4_HUMAN	L	504	ENSP00000216268:R504L	ENSP00000216268:R504L	R	+	2	0	ZBED4	48664825	1.000000	0.71417	0.996000	0.52242	0.039000	0.13416	9.003000	0.93577	2.728000	0.93425	0.591000	0.81541	CGC		0.587	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838	
PDCD2L	84306	hgsc.bcm.edu	37	19	34900368	34900368	+	Silent	SNP	C	C	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr19:34900368C>T	ENST00000246535.3	+	4	686	c.639C>T	c.(637-639)gaC>gaT	p.D213D	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	213					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.D213D(1)		breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTCTGAGGGACTATCAGCAGA	0.532																																					p.D213D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C639T	19						.						122.0	112.0	115.0					19																	34900368		2203	4300	6503	39592208	SO:0001819	synonymous_variant	84306	exon4			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.639C>T	19.37:g.34900368C>T			39592208	NM_032346		Silent	SNP	ENST00000246535.3	37	CCDS12438.1																																																																																				0.532	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3	NM_032346	
CTSB	1508	hgsc.bcm.edu	37	8	11703285	11703285	+	Missense_Mutation	SNP	G	G	C	rs202010757	byFrequency	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr8:11703285G>C	ENST00000353047.6	-	9	1060	c.807C>G	c.(805-807)caC>caG	p.H269Q	CTSB_ENST00000531089.1_Missense_Mutation_p.H269Q|CTSB_ENST00000345125.3_Missense_Mutation_p.H269Q|CTSB_ENST00000534510.1_Missense_Mutation_p.H269Q|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000525076.1_5'Flank|CTSB_ENST00000533455.1_Missense_Mutation_p.H269Q|CTSB_ENST00000453527.2_Missense_Mutation_p.H269Q|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000530640.2_Missense_Mutation_p.H269Q|CTSB_ENST00000434271.1_Missense_Mutation_p.H269Q	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	269					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)	p.H269Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CTCCGGTGACGTGTTGGTACA	0.617																																					p.H269Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C807G	8						.						99.0	72.0	81.0					8																	11703285		2203	4300	6503	11740694	SO:0001583	missense	1508	exon10			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.807C>G	8.37:g.11703285G>C	ENSP00000345672:p.His269Gln		11740694	NM_147781	B3KQR5|B3KRR5|Q503A6|Q96D87	Missense_Mutation	SNP	ENST00000353047.6	37	CCDS5986.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679334	0.29783	.	.	ENSG00000164733	ENST00000434271;ENST00000540571;ENST00000353047;ENST00000530640;ENST00000531089;ENST00000453527;ENST00000345125;ENST00000533455;ENST00000534510;ENST00000541328	D;D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.19	-4.69	0.03299	Peptidase C1A, papain C-terminal (2);	0.087198	0.85682	D	0.000000	D	0.92616	0.7654	M	0.87328	2.875	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;P;D;D	0.97110	1.0;0.834;0.993;0.999	D	0.91982	0.5595	10	0.72032	D	0.01	.	15.7027	0.77555	0.7645:0.0:0.2355:0.0	.	206;269;269;206	B3KUJ8;A8K2H4;P07858;F5H2P9	.;.;CATB_HUMAN;.	Q	269;206;269;269;269;269;269;269;269;175	ENSP00000415889:H269Q;ENSP00000345672:H269Q;ENSP00000435105:H269Q;ENSP00000433215:H269Q;ENSP00000409917:H269Q;ENSP00000342070:H269Q;ENSP00000432244:H269Q;ENSP00000434217:H269Q	ENSP00000342070:H269Q	H	-	3	2	CTSB	11740694	0.000000	0.05858	0.010000	0.14722	0.071000	0.16799	-0.860000	0.04272	-0.756000	0.04703	-0.137000	0.14449	CAC		0.617	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	NM_147780	
ELP3	55140	hgsc.bcm.edu	37	8	28047218	28047218	+	Silent	SNP	G	G	A	rs149193033	byFrequency	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr8:28047218G>A	ENST00000256398.8	+	15	1997	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	ELP3_ENST00000537665.1_Silent_p.P421P|ELP3_ENST00000521015.1_Silent_p.P526P|ELP3_ENST00000524103.1_Silent_p.P468P|ELP3_ENST00000380353.4_Silent_p.P448P|ELP3_ENST00000542181.1_Silent_p.P411P	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	540	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)	p.P540P(1)		kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TACAAGGCCCGTACATGGTGA	0.433																																					p.P540P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1620A	8						.	G		0,4406		0,0,2203	135.0	136.0	136.0		1620	-9.9	0.9	8	dbSNP_134	136	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ELP3	NM_018091.5		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		540/548	28047218	2,13004	2203	4300	6503	28103137	SO:0001819	synonymous_variant	55140	exon15				CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.1620G>A	8.37:g.28047218G>A			28103137	NM_018091	B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Silent	SNP	ENST00000256398.8	37	CCDS6065.1																																																																																				0.433	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091	
KAZN	23254	hgsc.bcm.edu	37	1	15392195	15392195	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr1:15392195C>T	ENST00000376030.2	+	8	1462	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	KAZN_ENST00000400797.3_Missense_Mutation_p.R296C|KAZN_ENST00000422387.2_Missense_Mutation_p.R390C|KAZN_ENST00000361144.5_Missense_Mutation_p.R384C|KAZN_ENST00000400798.2_Missense_Mutation_p.R296C|KAZN_ENST00000503743.1_Missense_Mutation_p.R390C	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	390					keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)		p.R384C(2)|p.R390C(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CTCCATCTCCCGCGTCTTCGC	0.542																																					p.R390C												.	.	4	Substitution - Missense(4)	large_intestine(2)|prostate(2)	c.C1168T	1						.						75.0	81.0	79.0					1																	15392195		2203	4300	6503	15264782	SO:0001583	missense	23254	exon8			AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1168C>T	1.37:g.15392195C>T	ENSP00000365198:p.Arg390Cys		15264782	NM_201628	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	ENST00000376030.2	37	CCDS152.2	.	.	.	.	.	.	.	.	.	.	C	18.19	3.570089	0.65765	.	.	ENSG00000189337	ENST00000376030;ENST00000503743;ENST00000422387;ENST00000361144;ENST00000400798;ENST00000400797	T	0.36520	1.25	5.39	3.4	0.38934	.	0.057554	0.64402	D	0.000001	T	0.44435	0.1293	L	0.34521	1.04	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.987	T	0.40059	-0.9583	10	0.87932	D	0	-13.5792	8.006	0.30325	0.2976:0.6227:0.0:0.0797	.	390;384;390	Q674X7-2;Q674X7-3;Q674X7	.;.;KAZRN_HUMAN	C	390;390;390;384;296;296	ENSP00000365198:R390C	ENSP00000354727:R384C	R	+	1	0	KAZN	15264782	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.456000	0.53000	1.264000	0.44198	0.305000	0.20034	CGC		0.542	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005690.2	NM_001017999	
CD1A	909	hgsc.bcm.edu	37	1	158226760	158226760	+	Silent	SNP	C	C	T	rs376991873		TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr1:158226760C>T	ENST00000289429.5	+	4	1322	c.789C>T	c.(787-789)cgC>cgT	p.R263R		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	263	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.R263R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GGTATCTCCGCGCAACCCTGG	0.632																																					p.R263R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C789T	1						.	C		2,4404	4.2+/-10.8	0,2,2201	93.0	86.0	88.0		789	-6.3	0.0	1		88	0,8600		0,0,4300	no	coding-synonymous	CD1A	NM_001763.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		263/328	158226760	2,13004	2203	4300	6503	156493384	SO:0001819	synonymous_variant	909	exon4			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.789C>T	1.37:g.158226760C>T			156493384	NM_001763	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	CCDS1174.1																																																																																				0.632	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763	
PKP1	5317	hgsc.bcm.edu	37	1	201282632	201282632	+	Silent	SNP	C	C	A			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr1:201282632C>A	ENST00000352845.3	+	3	645	c.645C>A	c.(643-645)atC>atA	p.I215I	PKP1_ENST00000367324.3_Silent_p.I215I|PKP1_ENST00000263946.3_Silent_p.I215I			Q13835	PKP1_HUMAN	plakophilin 1	215					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)	p.I215I(1)		NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CTGTGTATATCCCGCCCATCT	0.607																																					p.I215I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C645A	1						.						52.0	50.0	51.0					1																	201282632		2203	4300	6503	199549255	SO:0001819	synonymous_variant	5317	exon3			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.645C>A	1.37:g.201282632C>A			199549255	NM_000299	O00645|Q14CA0|Q15152	Silent	SNP	ENST00000352845.3	37	CCDS30966.1																																																																																				0.607	PKP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086897.1	NM_000299	
CDCP2	200008	hgsc.bcm.edu	37	1	54610171	54610171	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr1:54610171G>A	ENST00000371330.1	-	2	1242	c.395C>T	c.(394-396)gCc>gTc	p.A132V	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	132	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)		p.A132V(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCCATGGCTGGCCACATGCTT	0.607																																					p.A132V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C395T	1						.						48.0	47.0	47.0					1																	54610171		2203	4300	6503	54382759	SO:0001583	missense	200008	exon2				CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.395C>T	1.37:g.54610171G>A	ENSP00000360381:p.Ala132Val		54382759	NM_201546	Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	CCDS588.2	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749386	0.69533	.	.	ENSG00000157211	ENST00000371330	T	0.18502	2.21	5.08	5.08	0.68730	CUB (5);	0.000000	0.85682	D	0.000000	T	0.29716	0.0742	L	0.39245	1.2	0.48901	D	0.99972	D	0.76494	0.999	D	0.70227	0.968	T	0.01516	-1.1335	10	0.20519	T	0.43	-34.0806	14.1564	0.65419	0.0:0.1498:0.8501:0.0	.	132	Q5VXM1	CDCP2_HUMAN	V	132	ENSP00000360381:A132V	ENSP00000360381:A132V	A	-	2	0	CDCP2	54382759	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	7.796000	0.85898	2.366000	0.80165	0.591000	0.81541	GCC		0.607	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546	
RPE65	6121	hgsc.bcm.edu	37	1	68905269	68905269	+	Nonsense_Mutation	SNP	G	G	A	rs61752895		TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr1:68905269G>A	ENST00000262340.5	-	7	753	c.700C>T	c.(700-702)Cga>Tga	p.R234*		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	234					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.R234*(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						GGCTTGAATCGGTCACTGCAG	0.393																																					p.R234X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C700T	1	GRCh37	CM971315	RPE65	M	rs61752895	.						181.0	173.0	175.0					1																	68905269		2203	4300	6503	68677857	SO:0001587	stop_gained	6121	exon7			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.700C>T	1.37:g.68905269G>A	ENSP00000262340:p.Arg234*		68677857	NM_000329	A8K1L0|Q5T9U3	Nonsense_Mutation	SNP	ENST00000262340.5	37	CCDS643.1	.	.	.	.	.	.	.	.	.	.	g	37	6.226034	0.97394	.	.	ENSG00000116745	ENST00000262340	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-12.4526	13.0483	0.58939	0.0:0.0:0.734:0.266	rs61752895	.	.	.	X	234	.	ENSP00000262340:R234X	R	-	1	2	RPE65	68677857	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.324000	0.65863	2.748000	0.94277	0.645000	0.84053	CGA		0.393	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	
KCNH1	3756	hgsc.bcm.edu	37	1	210948826	210948826	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr1:210948826G>T	ENST00000271751.4	-	10	2003	c.1976C>A	c.(1975-1977)gCc>gAc	p.A659D	KCNH1_ENST00000367007.4_Missense_Mutation_p.A632D			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	659					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.A659D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCTAACATTGGCACAGGACTG	0.522																																					p.A632D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1895A	1						.						150.0	118.0	129.0					1																	210948826		2203	4300	6503	209015449	SO:0001583	missense	3756	exon10			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1976C>A	1.37:g.210948826G>T	ENSP00000271751:p.Ala659Asp		209015449	NM_002238	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722640	0.89298	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.94793	-3.52;-3.52	5.47	5.47	0.80525	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.98834	1.0752	10	0.87932	D	0	.	19.3371	0.94324	0.0:0.0:1.0:0.0	.	632;659	Q14CL3;O95259	.;KCNH1_HUMAN	D	659;632	ENSP00000271751:A659D;ENSP00000355974:A632D	ENSP00000271751:A659D	A	-	2	0	KCNH1	209015449	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.507000	0.97996	2.567000	0.86603	0.561000	0.74099	GCC		0.522	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
UBQLNL	143630	hgsc.bcm.edu	37	11	5537034	5537034	+	Missense_Mutation	SNP	C	C	T	rs147885423	byFrequency	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr11:5537034C>T	ENST00000380184.1	-	1	901	c.638G>A	c.(637-639)cGc>cAc	p.R213H	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	213								p.R213H(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AAGAAGAAGGCGGGAAACTTC	0.463													c|||	7	0.00139776	0.0	0.0	5008	,	,		21105	0.001		0.0	False		,,,				2504	0.0061				p.R213H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G638A	11						.	C	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	124.0	128.0	127.0		638	2.7	0.0	11	dbSNP_134	127	4,8590	3.7+/-12.6	0,4,4293	yes	missense	UBQLNL	NM_145053.4	29	0,5,6493	TT,TC,CC		0.0465,0.0227,0.0385	benign	213/476	5537034	5,12991	2201	4297	6498	5493610	SO:0001583	missense	143630	exon1			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.638G>A	11.37:g.5537034C>T	ENSP00000369531:p.Arg213His		5493610	NM_145053	Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	CCDS31385.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.004	-2.342822	0.00222	2.27E-4	4.65E-4	ENSG00000175518	ENST00000380184	T	0.35605	1.3	5.05	2.71	0.32032	.	0.243046	0.29192	N	0.012869	T	0.06735	0.0172	N	0.00179	-1.91	0.20638	N	0.999877	B	0.02656	0.0	B	0.01281	0.0	T	0.39583	-0.9607	10	0.02654	T	1	-12.1084	6.8781	0.24158	0.0:0.1839:0.0:0.8161	.	213	Q8IYU4	UBQLN_HUMAN	H	213	ENSP00000369531:R213H	ENSP00000369531:R213H	R	-	2	0	UBQLNL	5493610	1.000000	0.71417	0.041000	0.18516	0.010000	0.07245	1.810000	0.38932	0.383000	0.24910	-0.301000	0.09380	CGC		0.463	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053	
EIF3F	8665	hgsc.bcm.edu	37	11	8013380	8013380	+	Silent	SNP	C	C	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr11:8013380C>T	ENST00000533626.1	+	4	1043	c.417C>T	c.(415-417)caC>caT	p.H139H	EIF3F_ENST00000449102.2_Intron|EIF3F_ENST00000537635.1_Silent_p.H154H|EIF3F_ENST00000309828.4_Silent_p.H139H					eukaryotic translation initiation factor 3, subunit F									p.H139H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGTGCCGCACAATGAGTCAG	0.493																																					p.H139H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C417T	11						.						168.0	156.0	160.0					11																	8013380		2201	4296	6497	7969956	SO:0001819	synonymous_variant	8665	exon2			U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.417C>T	11.37:g.8013380C>T			7969956	NM_003754		Silent	SNP	ENST00000533626.1	37	CCDS7785.1																																																																																				0.493	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754	
NELL1	4745	hgsc.bcm.edu	37	11	20869170	20869170	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr11:20869170G>A	ENST00000357134.5	+	4	529	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	NELL1_ENST00000298925.5_Missense_Mutation_p.R154Q|NELL1_ENST00000532434.1_Missense_Mutation_p.R126Q|NELL1_ENST00000325319.5_Intron	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	126	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)	p.R126Q(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GATGAGATTCGGTATCACTAC	0.453																																					p.R126Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G377A	11						.						209.0	154.0	173.0					11																	20869170		2203	4300	6503	20825746	SO:0001583	missense	4745	exon4			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.377G>A	11.37:g.20869170G>A	ENSP00000349654:p.Arg126Gln		20825746	NM_006157	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	36	5.608771	0.96626	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000532434	T;T;T	0.78246	-1.16;-1.16;-1.16	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.89227	0.6655	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;0.957;1.0	D;P;D	0.87578	0.998;0.63;0.998	D	0.89140	0.3516	10	0.59425	D	0.04	-15.8207	20.0377	0.97569	0.0:0.0:1.0:0.0	.	154;126;126	B3KXR2;Q92832-2;Q92832	.;.;NELL1_HUMAN	Q	154;126;126	ENSP00000298925:R154Q;ENSP00000349654:R126Q;ENSP00000437170:R126Q	ENSP00000298925:R154Q	R	+	2	0	NELL1	20825746	1.000000	0.71417	0.958000	0.39756	0.912000	0.54170	9.813000	0.99286	2.822000	0.97130	0.650000	0.86243	CGG		0.453	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	
PC	5091	hgsc.bcm.edu	37	11	66616434	66616434	+	Missense_Mutation	SNP	C	C	T	rs149054698		TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr11:66616434C>T	ENST00000393958.2	-	22	3566	c.3473G>A	c.(3472-3474)cGc>cAc	p.R1158H	PC_ENST00000529047.1_Missense_Mutation_p.R278H|PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Missense_Mutation_p.R1158H|PC_ENST00000393960.1_Missense_Mutation_p.R1158H	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	1158	Biotinyl-binding. {ECO:0000255|PROSITE- ProRule:PRU01066}.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.R1158H(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATGAACCTTGCGGACAGTACC	0.607																																					p.R1158H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3473A	11						.	C	HIS/ARG,HIS/ARG,HIS/ARG	0,4400		0,0,2200	136.0	106.0	116.0		3473,3473,3473	1.8	1.0	11	dbSNP_134	116	1,8589	1.2+/-3.3	0,1,4294	no	missense,missense,missense	PC	NM_000920.3,NM_001040716.1,NM_022172.2	29,29,29	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	1158/1179,1158/1179,1158/1179	66616434	1,12989	2200	4295	6495	66373010	SO:0001583	missense	5091	exon23			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.3473G>A	11.37:g.66616434C>T	ENSP00000377530:p.Arg1158His		66373010	NM_001040716	B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457374	0.43634	0.0	1.16E-4	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	4.79	1.75	0.24633	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.906024	0.09618	N	0.777938	T	0.39708	0.1088	L	0.42245	1.32	0.80722	D	1	P	0.39920	0.695	B	0.35182	0.197	T	0.38824	-0.9643	10	0.87932	D	0	-13.0091	4.2498	0.10689	0.0:0.5499:0.1698:0.2803	.	1158	P11498	PYC_HUMAN	H	278;1158;1158;1158	ENSP00000435905:R278H;ENSP00000377527:R1158H;ENSP00000377530:R1158H;ENSP00000377532:R1158H	ENSP00000377527:R1158H	R	-	2	0	PC	66373010	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.063000	0.30567	0.630000	0.30394	0.561000	0.74099	CGC		0.607	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	
OR10S1	219873	hgsc.bcm.edu	37	11	123847892	123847892	+	Silent	SNP	G	G	A			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr11:123847892G>A	ENST00000531945.1	-	1	596	c.507C>T	c.(505-507)caC>caT	p.H169H		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H169H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGATTGCAGCGTGCGTGGCAC	0.567																																					p.H169H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C507T	11						.						112.0	98.0	103.0					11																	123847892		2202	4299	6501	123353102	SO:0001819	synonymous_variant	219873	exon1			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.507C>T	11.37:g.123847892G>A			123353102	NM_001004474	B9EH43|Q6IEV3|Q96R78	Silent	SNP	ENST00000531945.1	37	CCDS31701.1																																																																																				0.567	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474	
CMTR1	23070	hgsc.bcm.edu	37	6	37429332	37429332	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr6:37429332C>T	ENST00000373451.4	+	11	1267	c.1103C>T	c.(1102-1104)tCg>tTg	p.S368L	CMTR1_ENST00000493656.1_3'UTR	NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	368	RrmJ-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00945}.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)	p.S368L(1)									CAGGGTTTCTCGGTGGAGGGG	0.507																																					p.S368L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1103T	6						.						102.0	99.0	100.0					6																	37429332		2203	4300	6503	37537310	SO:0001583	missense	23070	exon11			BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.1103C>T	6.37:g.37429332C>T	ENSP00000362550:p.Ser368Leu		37537310	NM_015050	A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	CCDS4835.1	.	.	.	.	.	.	.	.	.	.	C	35	5.522778	0.96431	.	.	ENSG00000137200	ENST00000373451;ENST00000455891;ENST00000373427	T;T	0.30981	1.51;1.51	5.64	5.64	0.86602	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;0.989	D;P	0.75020	0.985;0.875	T	0.48115	-0.9063	10	0.51188	T	0.08	-8.5268	18.6931	0.91590	0.0:1.0:0.0:0.0	.	312;368	Q5T7F5;Q8N1G2	.;MTR1_HUMAN	L	368;312;312	ENSP00000362550:S368L;ENSP00000414233:S312L	ENSP00000362526:S312L	S	+	2	0	FTSJD2	37537310	1.000000	0.71417	0.975000	0.42487	0.992000	0.81027	7.626000	0.83164	2.655000	0.90218	0.591000	0.81541	TCG		0.507	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040408.1	NM_015050	
HTR1E	3354	hgsc.bcm.edu	37	6	87725676	87725676	+	Silent	SNP	G	G	A			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr6:87725676G>A	ENST00000305344.5	+	2	1327	c.624G>A	c.(622-624)gcG>gcA	p.A208A		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	208			A -> T (in dbSNP:rs3828741).		adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.A208A(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TTTACCACGCGGCCAAGAGCC	0.443																																					p.A208A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G624A	6						.						89.0	88.0	89.0					6																	87725676		2203	4300	6503	87782395	SO:0001819	synonymous_variant	3354	exon2				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.624G>A	6.37:g.87725676G>A			87782395	NM_000865	E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	CCDS5006.1																																																																																				0.443	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865	
SYNE1	23345	hgsc.bcm.edu	37	6	152786552	152786552	+	Silent	SNP	G	G	A	rs577191787		TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr6:152786552G>A	ENST00000367255.5	-	18	2374	c.1773C>T	c.(1771-1773)acC>acT	p.T591T	SYNE1_ENST00000423061.1_Silent_p.T598T|SYNE1_ENST00000413186.2_Silent_p.T591T|SYNE1_ENST00000466159.2_Silent_p.T591T|SYNE1_ENST00000341594.5_Silent_p.T598T|SYNE1_ENST00000367248.3_Silent_p.T581T|SYNE1_ENST00000265368.4_Silent_p.T591T|SYNE1_ENST00000448038.1_Silent_p.T598T|SYNE1_ENST00000367253.4_Silent_p.T591T|SYNE1_ENST00000495090.2_Silent_p.T158T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	591					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.T591T(2)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCACTGAGCGGTGGTTTCAT	0.418										HNSCC(10;0.0054)			G|||	0	0.0	0.0	0.0	5008	,	,		17904	0.0		0.0	False		,,,				2504	0.0				p.T598T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1794T	6						.						110.0	94.0	100.0					6																	152786552		2203	4300	6503	152828245	SO:0001819	synonymous_variant	23345	exon18			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1773C>T	6.37:g.152786552G>A			152828245	NM_033071	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	CCDS5236.2																																																																																				0.418	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
ASPA	443	hgsc.bcm.edu	37	17	3402307	3402307	+	Silent	SNP	C	C	T	rs375736464		TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr17:3402307C>T	ENST00000263080.2	+	6	1025	c.867C>T	c.(865-867)taC>taT	p.Y289Y	ASPA_ENST00000456349.2_Silent_p.Y289Y|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	289					aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)	p.Y289Y(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	CCGCATATTACGAAAAGAAAG	0.433																																					p.Y289Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C867T	17						.	C	,	0,4406		0,0,2203	97.0	82.0	87.0		867,867	-1.8	1.0	17		87	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ASPA	NM_000049.2,NM_001128085.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	289/314,289/314	3402307	1,13005	2203	4300	6503	3349057	SO:0001819	synonymous_variant	443	exon6			S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.867C>T	17.37:g.3402307C>T			3349057	NM_000049		Silent	SNP	ENST00000263080.2	37	CCDS11028.1																																																																																				0.433	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1	NM_000049	
TP53	7157	hgsc.bcm.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				p.R273H	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,central_nervous_system,brain,Substitution - Missense,-1	.	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	c.G818A	17	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	.						67.0	58.0	61.0					17																	7577120		2203	4300	6503	7517845	SO:0001583	missense	7157	exon8	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;	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		7517845	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
CPD	1362	hgsc.bcm.edu	37	17	28791618	28791618	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr17:28791618C>T	ENST00000225719.4	+	21	4005	c.3929C>T	c.(3928-3930)tCg>tTg	p.S1310L	CPD_ENST00000543464.2_Missense_Mutation_p.S1063L	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1310						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.S1310L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GCTACTATGTCGGCATTGATC	0.388																																					p.S1063L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3188T	17						.						168.0	148.0	155.0					17																	28791618		2203	4300	6503	25815744	SO:0001583	missense	1362	exon21			U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.3929C>T	17.37:g.28791618C>T	ENSP00000225719:p.Ser1310Leu		25815744	NM_001199775	B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.122162	0.56613	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.14640	2.49;2.49	5.42	5.42	0.78866	Carboxypeptidase-like, regulatory domain (1);	0.074779	0.56097	D	0.000029	T	0.10637	0.0260	N	0.14661	0.345	0.54753	D	0.99998	P;D	0.59357	0.675;0.985	B;B	0.40702	0.094;0.338	T	0.06516	-1.0822	10	0.87932	D	0	-2.7302	18.1989	0.89831	0.0:1.0:0.0:0.0	.	1063;1310	F5GZH6;O75976	.;CBPD_HUMAN	L	1310;1063	ENSP00000225719:S1310L;ENSP00000444443:S1063L	ENSP00000225719:S1310L	S	+	2	0	CPD	25815744	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	7.084000	0.76866	2.509000	0.84616	0.655000	0.94253	TCG		0.388	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304	
CLUAP1	23059	hgsc.bcm.edu	37	16	3569975	3569975	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr16:3569975G>A	ENST00000576634.1	+	7	796	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	CLUAP1_ENST00000341633.5_Missense_Mutation_p.E218K|CLUAP1_ENST00000572600.1_Missense_Mutation_p.E52K|CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000417763.2_Missense_Mutation_p.E52K|CLUAP1_ENST00000571025.1_Missense_Mutation_p.E218K	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	218					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)		p.E218K(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AGCCAAAATCGAAAAGAGAAA	0.383																																					p.E52K												.	.	2	Substitution - Missense(2)	urinary_tract(1)|large_intestine(1)	c.G154A	16						.						100.0	103.0	102.0					16																	3569975		2197	4300	6497	3509976	SO:0001583	missense	23059	exon3			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.652G>A	16.37:g.3569975G>A	ENSP00000460850:p.Glu218Lys		3509976	NM_024793	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	ENST00000576634.1	37	CCDS32381.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457052	0.63401	.	.	ENSG00000103351	ENST00000341633;ENST00000417763	T;T	0.43294	0.95;0.95	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	L	0.48986	1.54	0.80722	D	1	D;D	0.65815	0.983;0.995	P;D	0.62955	0.714;0.909	T	0.54820	-0.8236	10	0.45353	T	0.12	-9.3317	16.3104	0.82865	0.0:0.0:1.0:0.0	.	52;218	Q96AJ1-2;Q96AJ1	.;CLUA1_HUMAN	K	218;52	ENSP00000344392:E218K;ENSP00000388642:E52K	ENSP00000344392:E218K	E	+	1	0	CLUAP1	3509976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.195000	0.94971	2.444000	0.82710	0.650000	0.86243	GAA		0.383	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2	NM_024793	
SRCAP	10847	hgsc.bcm.edu	37	16	30745834	30745834	+	Silent	SNP	G	G	C			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr16:30745834G>C	ENST00000262518.4	+	31	7012	c.6627G>C	c.(6625-6627)ctG>ctC	p.L2209L	SRCAP_ENST00000344771.4_Silent_p.L2051L|SRCAP_ENST00000395059.2_Silent_p.L2147L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2209					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.L2209L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCCGAGAGCTGTTTGATATGC	0.512																																					p.L2209L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G6627C	16						.						170.0	157.0	161.0					16																	30745834		2197	4300	6497	30653335	SO:0001819	synonymous_variant	10847	exon31			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.6627G>C	16.37:g.30745834G>C			30653335	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																				0.512	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
FAM65A	79567	hgsc.bcm.edu	37	16	67578314	67578314	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr16:67578314C>T	ENST00000379312.3	+	15	2846	c.2725C>T	c.(2725-2727)Cac>Tac	p.H909Y	FAM65A_ENST00000042381.4_Missense_Mutation_p.H905Y|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.H925Y|FAM65A_ENST00000540839.3_Missense_Mutation_p.H924Y|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.H919Y	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	909						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.H905Y(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCACCTGTACCACTGCAGTCG	0.642																																					p.H909Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2725T	16						.						96.0	87.0	90.0					16																	67578314		2198	4300	6498	66135815	SO:0001583	missense	79567	exon15			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2725C>T	16.37:g.67578314C>T	ENSP00000368614:p.His909Tyr		66135815	NM_001193522	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.444|7.444	0.641202|0.641202	0.14451|0.14451	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.76060|.	-0.99;-0.99;-0.99|.	5.55|5.55	4.6|4.6	0.57074|0.57074	.|.	0.213898|.	0.45606|.	N|.	0.000343|.	T|T	0.23289|0.23289	0.0563|0.0563	N|N	0.08118|0.08118	0|0	0.30076|0.30076	N|N	0.809571|0.809571	B;B;B|.	0.22346|.	0.068;0.068;0.068|.	B;B;B|.	0.14578|.	0.011;0.011;0.011|.	T|T	0.19160|0.19160	-1.0314|-1.0314	10|5	0.02654|.	T|.	1|.	-9.8436|-9.8436	8.5739|8.5739	0.33587|0.33587	0.2502:0.6751:0.0:0.0747|0.2502:0.6751:0.0:0.0747	.|.	919;925;909|.	B4DIM2;E9PBS3;Q6ZS17|.	.;.;FA65A_HUMAN|.	Y|L	909;905;925;919|898	ENSP00000368614:H909Y;ENSP00000042381:H905Y;ENSP00000400099:H925Y|.	ENSP00000042381:H905Y|.	H|P	+|+	1|2	0|0	FAM65A|FAM65A	66135815|66135815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.027000|2.027000	0.41078|0.41078	1.353000|1.353000	0.45828|0.45828	0.655000|0.655000	0.94253|0.94253	CAC|CCA		0.642	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	NM_024519	
WWP2	11060	hgsc.bcm.edu	37	16	69905710	69905710	+	Silent	SNP	G	G	A	rs369827464		TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr16:69905710G>A	ENST00000359154.2	+	7	680	c.579G>A	c.(577-579)acG>acA	p.T193T	WWP2_ENST00000542271.1_Silent_p.T77T|WWP2_ENST00000569174.1_Silent_p.T193T|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.T193T|WWP2_ENST00000356003.2_Silent_p.T193T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	193					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.T193T(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCCCAGGACGCACAGACATT	0.552																																					p.T193T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G579A	16						.	G	,	0,4396		0,0,2198	57.0	60.0	59.0		579,579	-5.8	1.0	16		59	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous	WWP2	NM_007014.3,NM_199423.1	,	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	,	193/871,193/336	69905710	1,12991	2198	4298	6496	68463211	SO:0001819	synonymous_variant	11060	exon8			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.579G>A	16.37:g.69905710G>A			68463211	NM_199423	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	CCDS10885.1																																																																																				0.552	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014	
CNTN6	27255	hgsc.bcm.edu	37	3	1320107	1320107	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr3:1320107C>G	ENST00000446702.2	+	5	996	c.369C>G	c.(367-369)gaC>gaG	p.D123E	CNTN6_ENST00000539053.1_Missense_Mutation_p.D51E|CNTN6_ENST00000350110.2_Missense_Mutation_p.D123E			Q9UQ52	CNTN6_HUMAN	contactin 6	123	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.D123E(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ATATTGAAGACTTTGAAACTA	0.348																																					p.D123E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C369G	3						.						84.0	84.0	84.0					3																	1320107		2203	4300	6503	1295107	SO:0001583	missense	27255	exon5			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.369C>G	3.37:g.1320107C>G	ENSP00000407822:p.Asp123Glu		1295107	NM_014461	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	7.095	0.572980	0.13623	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.76316	-1.01;-1.01;-1.01	5.0	2.13	0.27403	Immunoglobulin-like (1);	0.219047	0.31859	N	0.006943	T	0.50309	0.1608	N	0.12527	0.23	0.30587	N	0.761883	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.004	T	0.43491	-0.9388	10	0.02654	T	1	.	5.0747	0.14625	0.1786:0.6414:0.0:0.1799	.	51;123	B4DGV0;Q9UQ52	.;CNTN6_HUMAN	E	123;51;123	ENSP00000407822:D123E;ENSP00000442791:D51E;ENSP00000341882:D123E	ENSP00000341882:D123E	D	+	3	2	CNTN6	1295107	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.125000	0.31332	0.590000	0.29694	-0.142000	0.14014	GAC		0.348	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
HGD	3081	hgsc.bcm.edu	37	3	120357388	120357388	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr3:120357388C>T	ENST00000283871.5	-	12	1379	c.920G>A	c.(919-921)cGc>cAc	p.R307H		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	307					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)	p.R307H(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CACTCCAGGGCGGACAGACTT	0.483																																					p.R307H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G920A	3						.						111.0	93.0	100.0					3																	120357388		2203	4296	6499	121840078	SO:0001583	missense	3081	exon12				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.920G>A	3.37:g.120357388C>T	ENSP00000283871:p.Arg307His		121840078	NM_000187	A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	CCDS3000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.96|15.96	2.985881|2.985881	0.53934|0.53934	.|.	.|.	ENSG00000113924|ENSG00000113924	ENST00000494453|ENST00000283871	.|D	.|0.98937	.|-5.25	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Cupin, RmlC-type (1);	.|0.131359	.|0.51477	.|D	.|0.000099	D|D	0.95875|0.95875	0.8657|0.8657	N|N	0.17631|0.17631	0.505|0.505	0.58432|0.58432	D|D	0.999998|0.999998	.|B	.|0.16166	.|0.016	.|B	.|0.11329	.|0.006	D|D	0.92709|0.92709	0.6181|0.6181	5|10	.|0.37606	.|T	.|0.19	-17.1833|-17.1833	16.4102|16.4102	0.83708|0.83708	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|307	.|Q93099	.|HGD_HUMAN	T|H	114|307	.|ENSP00000283871:R307H	.|ENSP00000283871:R307H	A|R	-|-	1|2	0|0	HGD|HGD	121840078|121840078	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.991000|0.991000	0.79684|0.79684	4.267000|4.267000	0.58877|0.58877	2.797000|2.797000	0.96272|0.96272	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.483	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1		
KRAS	3845	hgsc.bcm.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr12:25398281C>T	ENST00000256078.4	-	2	101	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000556131.1_Missense_Mutation_p.G13D|KRAS_ENST00000311936.3_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:3627975}.|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). {ECO:0000269|PubMed:16247081}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G13D	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,lung,NS,Substitution - Missense,-1	.	3291	Substitution - Missense(3290)|Complex - compound substitution(1)	large_intestine(2808)|haematopoietic_and_lymphoid_tissue(94)|lung(92)|endometrium(54)|soft_tissue(38)|ovary(38)|stomach(32)|pancreas(30)|thyroid(27)|biliary_tract(21)|prostate(20)|breast(10)|cervix(4)|gastrointestinal_tract_(site_indeterminate)(3)|upper_aerodigestive_tract(3)|urinary_tract(3)|liver(3)|salivary_gland(3)|small_intestine(3)|oesophagus(2)|skin(1)|genital_tract(1)|bone(1)	c.G38A	12						.						88.0	78.0	82.0					12																	25398281		2203	4300	6503	25289548	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.38G>A	12.37:g.25398281C>T	ENSP00000256078:p.Gly13Asp		25289548	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867862	0.91587	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.82803	-1.65;-0.7;-0.7;-0.7	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.93062	3.375	0.80722	D	1	B;P	0.43314	0.215;0.803	B;P	0.46172	0.175;0.506	D	0.92106	0.5692	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	D	13	ENSP00000308495:G13D;ENSP00000452512:G13D;ENSP00000256078:G13D;ENSP00000451856:G13D	ENSP00000256078:G13D	G	-	2	0	KRAS	25289548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC		0.338	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
MCRS1	10445	hgsc.bcm.edu	37	12	49960215	49960215	+	Intron	SNP	C	C	T	rs148437866	byFrequency	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr12:49960215C>T	ENST00000550165.1	-	4	277				MCRS1_ENST00000343810.4_Intron|MCRS1_ENST00000357123.4_Missense_Mutation_p.R3H|MCRS1_ENST00000546244.1_Intron			Q96EZ8	MCRS1_HUMAN	microspherule protein 1						cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R3H(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CCCGGTGCCACGTGTCATGTC	0.587																																					p.R3H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8A	12						.	C	HIS/ARG,	0,4402		0,0,2201	33.0	30.0	31.0		8,	-0.4	0.3	12	dbSNP_134	31	10,8580		0,10,4285	yes	missense,intron	MCRS1	NM_001012300.1,NM_006337.3	29,	0,10,6486	TT,TC,CC		0.1164,0.0,0.077	possibly-damaging,	3/476,	49960215	10,12982	2201	4295	6496	48246482	SO:0001627	intron_variant	10445	exon1			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.11-217G>A	12.37:g.49960215C>T			48246482	NM_001012300	O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	ENST00000550165.1	37	CCDS8787.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322829	0.23994	0.0	0.001164	ENSG00000187778	ENST00000357123	.	.	.	2.86	-0.365	0.12549	.	2.437060	0.01898	N	0.039017	T	0.17534	0.0421	.	.	.	0.09310	N	1	P	0.46277	0.875	B	0.29862	0.108	T	0.27806	-1.0063	8	0.87932	D	0	4.4626	3.3578	0.07176	0.4516:0.4104:0.0:0.138	.	3	Q96EZ8-2	.	H	3	.	ENSP00000349640:R3H	R	-	2	0	MCRS1	48246482	0.018000	0.18449	0.280000	0.24747	0.985000	0.73830	0.160000	0.16462	-0.075000	0.12798	-0.253000	0.11424	CGT		0.587	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405102.1	NM_006337	
GLDN	342035	hgsc.bcm.edu	37	15	51696614	51696614	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr15:51696614C>T	ENST00000335449.6	+	10	1375	c.1319C>T	c.(1318-1320)tCa>tTa	p.S440L	GLDN_ENST00000396399.2_Missense_Mutation_p.S316L	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	440	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S440L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ATCTATGCGTCAAGTGTGGAC	0.428																																					p.S440L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1319T	15						.						151.0	146.0	148.0					15																	51696614		2196	4293	6489	49483906	SO:0001583	missense	342035	exon10			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1319C>T	15.37:g.51696614C>T	ENSP00000335196:p.Ser440Leu		49483906	NM_181789	Q6UXZ7|Q7Z359	Missense_Mutation	SNP	ENST00000335449.6	37	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632893	0.67015	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.90900	-2.75;-2.75	5.71	5.71	0.89125	Olfactomedin-like (3);	0.000000	0.37669	N	0.001981	D	0.94608	0.8262	L	0.58428	1.81	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94548	0.7751	10	0.72032	D	0.01	.	19.8534	0.96748	0.0:1.0:0.0:0.0	.	440	Q6ZMI3	GLDN_HUMAN	L	440;316;316	ENSP00000335196:S440L;ENSP00000379681:S316L	ENSP00000335196:S440L	S	+	2	0	GLDN	49483906	1.000000	0.71417	0.133000	0.22050	0.111000	0.19643	7.487000	0.81328	2.711000	0.92665	0.563000	0.77884	TCA		0.428	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254667.2	NM_181789	
SNX22	79856	hgsc.bcm.edu	37	15	64446163	64446163	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr15:64446163G>C	ENST00000325881.4	+	6	481	c.422G>C	c.(421-423)aGc>aCc	p.S141T	PPIB_ENST00000558492.1_5'Flank	NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	141					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.S141T(1)		large_intestine(3)|lung(1)|urinary_tract(2)	6						CCTGTCCTGAGCTTCCATGTG	0.612											OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S141T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G422C	15						.						130.0	130.0	130.0					15																	64446163		2203	4300	6503	62233216	SO:0001583	missense	79856	exon6			AK024014	CCDS10190.1	15q22.1	2010-01-15			ENSG00000157734	ENSG00000157734		"""Sorting nexins"""	16315	protein-coding gene	gene with protein product						12461558, 17400918	Standard	NR_073534		Approved	FLJ13952	uc002anc.1	Q96L94	OTTHUMG00000132965	ENST00000325881.4:c.422G>C	15.37:g.64446163G>C	ENSP00000323435:p.Ser141Thr	1076	62233216	NM_024798	Q8WUS9|Q9H844	Missense_Mutation	SNP	ENST00000325881.4	37	CCDS10190.1	.	.	.	.	.	.	.	.	.	.	G	4.090	0.014689	0.07959	.	.	ENSG00000157734	ENST00000380278;ENST00000325881	T	0.76186	-1.0	5.41	3.24	0.37175	.	0.419599	0.29355	N	0.012388	T	0.54240	0.1846	L	0.34521	1.04	0.09310	N	1	B;B	0.12013	0.0;0.005	B;B	0.06405	0.001;0.002	T	0.34976	-0.9807	10	0.05833	T	0.94	-14.0235	6.3677	0.21463	0.1298:0.1916:0.6786:0.0	.	141;113	Q96L94;Q6ZTF9	SNX22_HUMAN;.	T	113;141	ENSP00000323435:S141T	ENSP00000323435:S141T	S	+	2	0	SNX22	62233216	0.997000	0.39634	0.228000	0.23943	0.325000	0.28411	0.704000	0.25661	1.244000	0.43870	0.491000	0.48974	AGC		0.612	SNX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256524.2	NM_024798	
CLOCK	9575	hgsc.bcm.edu	37	4	56336967	56336967	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr4:56336967C>T	ENST00000309964.4	-	7	605	c.355G>A	c.(355-357)Gat>Aat	p.D119N	CLOCK_ENST00000513440.1_Missense_Mutation_p.D119N|CLOCK_ENST00000381322.1_Missense_Mutation_p.D119N	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	119	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.D119N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AAAAAACCATCAAGAGCCTGA	0.274																																					p.D119N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G355A	4						.						83.0	88.0	86.0					4																	56336967		2201	4298	6499	56031724	SO:0001583	missense	9575	exon8			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.355G>A	4.37:g.56336967C>T	ENSP00000308741:p.Asp119Asn		56031724	NM_004898	A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422042	0.96111	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.19105	2.17;2.17;2.17	5.58	5.58	0.84498	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.42607	0.1210	L	0.49455	1.56	0.80722	D	1	P	0.40638	0.725	P	0.58620	0.842	T	0.04693	-1.0933	10	0.56958	D	0.05	.	19.9348	0.97133	0.0:1.0:0.0:0.0	.	119	O15516	CLOCK_HUMAN	N	119	ENSP00000308741:D119N;ENSP00000370723:D119N;ENSP00000426983:D119N	ENSP00000308741:D119N	D	-	1	0	CLOCK	56031724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.228000	0.78079	2.789000	0.95967	0.591000	0.81541	GAT		0.274	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
WWC3	55841	hgsc.bcm.edu	37	X	10098062	10098062	+	Silent	SNP	A	A	G			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chrX:10098062A>G	ENST00000380861.4	+	18	2890	c.2499A>G	c.(2497-2499)ccA>ccG	p.P833P	WWC3_ENST00000454666.1_Silent_p.P833P	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	833					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.P833P(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CTCCGTACCCAGAGCCCTGTT	0.592																																					p.P833P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A2499G	X						.						101.0	79.0	86.0					X																	10098062		2203	4300	6503	10058062	SO:0001819	synonymous_variant	55841	exon18			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.2499A>G	X.37:g.10098062A>G			10058062	NM_015691	A8KA96|Q659C1|Q9BTQ1	Silent	SNP	ENST00000380861.4	37	CCDS14136.1																																																																																				0.592	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
KIF4A	24137	hgsc.bcm.edu	37	X	69573483	69573483	+	Silent	SNP	C	C	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chrX:69573483C>T	ENST00000374403.3	+	15	1582	c.1500C>T	c.(1498-1500)acC>acT	p.T500T	KIF4A_ENST00000374388.3_Silent_p.T500T	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	500					anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.T500T(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AAGTAGAAACCAGTCCAGAGA	0.438																																					p.T500T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1500T	X						.						40.0	38.0	38.0					X																	69573483		2203	4300	6503	69490208	SO:0001819	synonymous_variant	24137	exon15			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.1500C>T	X.37:g.69573483C>T			69490208	NM_012310	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	CCDS14401.1																																																																																				0.438	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	
ERBB4	2066	hgsc.bcm.edu	37	2	212530171	212530171	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr2:212530171A>T	ENST00000342788.4	-	15	2058	c.1748T>A	c.(1747-1749)tTt>tAt	p.F583Y	ERBB4_ENST00000436443.1_Missense_Mutation_p.F583Y|ERBB4_ENST00000402597.1_Missense_Mutation_p.F583Y	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	583	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F583Y(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GCCATCTTTAAAATGAGAGCA	0.408										TSP Lung(8;0.080)																											p.F583Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1748A	2						.						108.0	99.0	102.0					2																	212530171		2203	4300	6503	212238416	SO:0001583	missense	2066	exon15			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1748T>A	2.37:g.212530171A>T	ENSP00000342235:p.Phe583Tyr		212238416	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.456|7.456	0.643640|0.643640	0.14451|0.14451	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.44083|.	0.93;0.93;0.93|.	4.94|4.94	4.94|4.94	0.65067|0.65067	Growth factor, receptor (1);|.	0.047167|.	0.85682|.	D|.	0.000000|.	T|T	0.54663|0.54663	0.1872|0.1872	L|L	0.31157|0.31157	0.91|0.91	0.54753|0.54753	D|D	0.999987|0.999987	P;B;B;P;P|.	0.43826|.	0.818;0.027;0.037;0.818;0.722|.	B;B;B;B;B|.	0.42692|.	0.395;0.038;0.017;0.395;0.274|.	T|T	0.51810|0.51810	-0.8658|-0.8658	10|5	0.07482|.	T|.	0.82|.	.|.	14.9157|14.9157	0.70795|0.70795	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	583;583;442;583;583|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	Y|I	583|583	ENSP00000342235:F583Y;ENSP00000403204:F583Y;ENSP00000385565:F583Y|.	ENSP00000342235:F583Y|.	F|L	-|-	2|1	0|2	ERBB4|ERBB4	212238416|212238416	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	7.269000|7.269000	0.78482|0.78482	1.992000|1.992000	0.58205|0.58205	0.533000|0.533000	0.62120|0.62120	TTT|TTA		0.408	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
COL6A3	1293	hgsc.bcm.edu	37	2	238277702	238277702	+	Silent	SNP	G	G	A	rs371075249		TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr2:238277702G>A	ENST00000295550.4	-	10	4856	c.4404C>T	c.(4402-4404)atC>atT	p.I1468I	COL6A3_ENST00000472056.1_Silent_p.I861I|COL6A3_ENST00000347401.3_Silent_p.I1267I|COL6A3_ENST00000353578.4_Silent_p.I1262I|COL6A3_ENST00000346358.4_Silent_p.I1268I|COL6A3_ENST00000409809.1_Silent_p.I1262I	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1468	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.I1468I(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TACTGGGGCCGATGTTGAGTC	0.493													g|||	1	0.000199681	0.0008	0.0	5008	,	,		19173	0.0		0.0	False		,,,				2504	0.0				p.I861I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2583T	2						.	G	,,	0,4406		0,0,2203	65.0	62.0	63.0		4404,2583,3786	-10.6	0.1	2		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	COL6A3	NM_004369.3,NM_057166.4,NM_057167.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1468/3178,861/2571,1262/2972	238277702	1,13005	2203	4300	6503	237942441	SO:0001819	synonymous_variant	1293	exon7			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4404C>T	2.37:g.238277702G>A			237942441	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.493	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
APBA1	320	hgsc.bcm.edu	37	9	72130950	72130950	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr9:72130950C>T	ENST00000265381.4	-	2	1399	c.1177G>A	c.(1177-1179)Gac>Aac	p.D393N		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	393	LIN-2/CASK binding.|Pro-rich.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D393N(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGCCTCTGGTCGTCACAGTCC	0.637																																					p.D393N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1177A	9						.						121.0	105.0	111.0					9																	72130950		2203	4300	6503	71320770	SO:0001583	missense	320	exon2			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1177G>A	9.37:g.72130950C>T	ENSP00000265381:p.Asp393Asn		71320770	NM_001163	O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916208	0.73098	.	.	ENSG00000107282	ENST00000265381	T	0.04317	3.65	5.95	5.95	0.96441	.	0.133496	0.52532	D	0.000071	T	0.07143	0.0181	N	0.24115	0.695	0.52099	D	0.999947	D	0.63046	0.992	P	0.48334	0.574	T	0.51841	-0.8654	10	0.21014	T	0.42	-26.3813	20.3932	0.98965	0.0:1.0:0.0:0.0	.	393	Q02410	APBA1_HUMAN	N	393	ENSP00000265381:D393N	ENSP00000265381:D393N	D	-	1	0	APBA1	71320770	1.000000	0.71417	0.959000	0.39883	0.980000	0.70556	3.990000	0.56965	2.824000	0.97209	0.655000	0.94253	GAC		0.637	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	
S1PR3	1903	hgsc.bcm.edu	37	9	91616761	91616761	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr9:91616761G>A	ENST00000375846.3	+	1	5341	c.646G>A	c.(646-648)Gca>Aca	p.A216T	S1PR3_ENST00000358157.2_Missense_Mutation_p.A216T			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	216					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|anatomical structure morphogenesis (GO:0009653)|cytokine production (GO:0001816)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of establishment of endothelial barrier (GO:1903141)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of interleukin-1 beta production (GO:0032651)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.A216T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						GATCCTCTACGCACGCATCTA	0.567											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A216T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G646A	9						.						153.0	122.0	133.0					9																	91616761		2203	4300	6503	90806581	SO:0001583	missense	1903	exon2			AF022139	CCDS6680.1	9q22.1-q22.2	2012-08-08	2008-04-30	2008-04-30	ENSG00000213694	ENSG00000213694		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3167	protein-coding gene	gene with protein product	"""sphingosine-1-phosphate receptor 3"""	601965	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 3"""	EDG3		8878560, 9409733	Standard	NM_005226		Approved	EDG-3	uc004aqe.4	Q99500	OTTHUMG00000020173	ENST00000375846.3:c.646G>A	9.37:g.91616761G>A	ENSP00000365006:p.Ala216Thr	1283	90806581	NM_005226	Q5SQD8|Q7Z5I2	Missense_Mutation	SNP	ENST00000375846.3	37	CCDS6680.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591697	0.46214	.	.	ENSG00000213694	ENST00000358157;ENST00000375846	T;T	0.71341	-0.56;-0.56	5.11	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.121890	0.56097	D	0.000038	T	0.67088	0.2856	L	0.42581	1.335	0.53688	D	0.999979	D	0.53885	0.963	P	0.48795	0.59	T	0.64141	-0.6477	10	0.33141	T	0.24	.	12.1727	0.54167	0.1397:0.0:0.8603:0.0	.	216	Q99500	S1PR3_HUMAN	T	216	ENSP00000350878:A216T;ENSP00000365006:A216T	ENSP00000350878:A216T	A	+	1	0	S1PR3	90806581	1.000000	0.71417	0.040000	0.18447	0.653000	0.38743	6.379000	0.73154	0.844000	0.35094	0.561000	0.74099	GCA		0.567	S1PR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052979.2	NM_005226	
STARD13	90627	hgsc.bcm.edu	37	13	33703505	33703505	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr13:33703505G>A	ENST00000336934.5	-	5	1425	c.1309C>T	c.(1309-1311)Cag>Tag	p.Q437*	STARD13_ENST00000255486.4_Nonsense_Mutation_p.Q429*|STARD13_ENST00000399365.3_Nonsense_Mutation_p.Q319*	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	437					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.Q437*(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CCAGGGACCTGCTCTCTGCCC	0.567																																					p.Q437X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1309T	13						.						43.0	45.0	45.0					13																	33703505		2203	4300	6503	32601505	SO:0001587	stop_gained	90627	exon5			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1309C>T	13.37:g.33703505G>A	ENSP00000338785:p.Gln437*		32601505	NM_178006	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Nonsense_Mutation	SNP	ENST00000336934.5	37	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746309	0.69418	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	.	.	.	5.73	4.88	0.63580	.	0.556583	0.20585	N	0.089451	.	.	.	.	.	.	0.51767	D	0.999939	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	.	13.1661	0.59571	0.0:0.0:0.5653:0.4347	.	.	.	.	X	319;429;437;429	.	ENSP00000255486:Q429X	Q	-	1	0	STARD13	32601505	0.067000	0.21026	0.586000	0.28679	0.032000	0.12392	1.083000	0.30815	1.411000	0.46957	0.655000	0.94253	CAG		0.567	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466	
PCDH17	27253	hgsc.bcm.edu	37	13	58208018	58208018	+	Silent	SNP	C	C	T	rs368374245		TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr13:58208018C>T	ENST00000377918.3	+	1	1364	c.1338C>T	c.(1336-1338)gaC>gaT	p.D446D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	446	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D446D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGCGCGGGACGGGGGCTCTC	0.587																																					p.D446D	Melanoma(72;952 1291 1619 12849 33676)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1338T	13						.						53.0	40.0	45.0					13																	58208018		2202	4299	6501	57106019	SO:0001819	synonymous_variant	27253	exon1			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1338C>T	13.37:g.58208018C>T			57106019	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	CCDS31986.1																																																																																				0.587	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
THNSL1	79896	hgsc.bcm.edu	37	10	25313675	25313675	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr10:25313675C>T	ENST00000524413.1	+	3	1870	c.1523C>T	c.(1522-1524)aCa>aTa	p.T508I	THNSL1_ENST00000376356.4_Missense_Mutation_p.T508I			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	508						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.T508I(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)	TGTATTCCCACAGGAAACTTT	0.403																																					p.T508I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1523T	10						.						78.0	80.0	80.0					10																	25313675		2203	4300	6503	25353681	SO:0001583	missense	79896	exon3			AK025655	CCDS7147.1	10p12.31	2008-02-05	2007-06-20		ENSG00000185875	ENSG00000185875			26160	protein-coding gene	gene with protein product		611260	"""threonine synthase-like 1 (bacterial)"""			12477932	Standard	NM_024838		Approved	FLJ22002	uc001isi.4	Q8IYQ7	OTTHUMG00000017828	ENST00000524413.1:c.1523C>T	10.37:g.25313675C>T	ENSP00000434887:p.Thr508Ile		25353681	NM_024838	B3KWL1|D3DRV3|Q5VV21	Missense_Mutation	SNP	ENST00000524413.1	37	CCDS7147.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860685	0.71834	.	.	ENSG00000185875	ENST00000524413;ENST00000376356	D;D	0.96365	-3.99;-3.99	5.94	5.94	0.96194	Threonine synthase (1);Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.99056	1.0829	10	0.87932	D	0	-27.8639	20.3633	0.98874	0.0:1.0:0.0:0.0	.	508	Q8IYQ7	THNS1_HUMAN	I	508	ENSP00000434887:T508I;ENSP00000365534:T508I	ENSP00000365534:T508I	T	+	2	0	THNSL1	25353681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.075000	0.76798	2.826000	0.97356	0.561000	0.74099	ACA		0.403	THNSL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394913.1	NM_024838	
MYO3A	53904	hgsc.bcm.edu	37	10	26455008	26455008	+	Silent	SNP	C	C	T			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr10:26455008C>T	ENST00000265944.5	+	27	3178	c.3012C>T	c.(3010-3012)ctC>ctT	p.L1004L	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1004	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L1004L(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACTACCTTCTCTGCTACAAGT	0.493																																					p.L1004L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3012T	10						.						167.0	178.0	175.0					10																	26455008		2203	4300	6503	26495014	SO:0001819	synonymous_variant	53904	exon27			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3012C>T	10.37:g.26455008C>T			26495014	NM_017433	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	CCDS7148.1																																																																																				0.493	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
MARCH8	220972	hgsc.bcm.edu	37	10	46028575	46028575	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr10:46028575T>C	ENST00000319836.3	-	2	834	c.85A>G	c.(85-87)Aag>Gag	p.K29E	MARCH8_ENST00000395769.2_Missense_Mutation_p.K29E|MARCH8_ENST00000453424.2_Missense_Mutation_p.K29E|MARCH8_ENST00000395771.3_Missense_Mutation_p.K29E	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	29					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K29E(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						TCCCTCTCCTTTTCTTTGGTC	0.388																																					p.K29E	NSCLC(102;658 1594 2173 16344 34808)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A85G	10						.						117.0	108.0	111.0					10																	46028575		2203	4300	6503	45348581	SO:0001583	missense	220972	exon2			AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.85A>G	10.37:g.46028575T>C	ENSP00000317087:p.Lys29Glu		45348581	NM_001002266	B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Missense_Mutation	SNP	ENST00000319836.3	37	CCDS7213.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463202	0.63513	.	.	ENSG00000165406	ENST00000395771;ENST00000319836;ENST00000395769;ENST00000453980	T;T;T	0.12774	2.65;2.65;2.65	5.04	5.04	0.67666	.	.	.	.	.	T	0.17577	0.0422	L	0.47716	1.5	0.31473	N	0.668162	D	0.57257	0.979	P	0.51777	0.679	T	0.01195	-1.1422	9	0.08599	T	0.76	.	11.1647	0.48537	0.0:0.0:0.0:1.0	.	29	Q5T0T0	MARH8_HUMAN	E	29	ENSP00000379118:K29E;ENSP00000317087:K29E;ENSP00000379116:K29E	ENSP00000317087:K29E	K	-	1	0	MARCH8	45348581	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.393000	0.66279	1.884000	0.54569	0.460000	0.39030	AAG		0.388	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1	NM_145021	
PTPRE	5791	hgsc.bcm.edu	37	10	129861358	129861358	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr10:129861358G>A	ENST00000254667.3	+	10	916	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	PTPRE_ENST00000419012.2_Missense_Mutation_p.E213K|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000306042.5_Missense_Mutation_p.E155K	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	213	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E213K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	TCCCAAACAGGAAACGGTTAA	0.522																																					p.E155K	Colon(52;977 1184 20575 41685)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G463A	10						.						96.0	87.0	90.0					10																	129861358		2203	4300	6503	129751348	SO:0001583	missense	5791	exon7			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.637G>A	10.37:g.129861358G>A	ENSP00000254667:p.Glu213Lys		129751348	NM_130435	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835253	0.91117	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.12147	2.71;2.71;2.71	4.38	4.38	0.52667	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.062472	0.64402	U	0.000008	T	0.20210	0.0486	L	0.49640	1.575	0.80722	D	1	P;P;P;P	0.40909	0.732;0.615;0.561;0.615	B;B;B;B	0.44315	0.446;0.211;0.095;0.211	T	0.02064	-1.1220	10	0.87932	D	0	.	16.4948	0.84237	0.0:0.0:1.0:0.0	.	191;213;155;213	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	K	213;191;213;155	ENSP00000254667:E213K;ENSP00000402337:E213K;ENSP00000303350:E155K	ENSP00000254667:E213K	E	+	1	0	PTPRE	129751348	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.378000	0.97191	2.433000	0.82419	0.563000	0.77884	GAA		0.522	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1		
MAN2A1	4124	hgsc.bcm.edu	37	5	109049312	109049312	+	Missense_Mutation	SNP	T	T	A			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr5:109049312T>A	ENST00000261483.4	+	2	1279	c.227T>A	c.(226-228)gTc>gAc	p.V76D		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	76					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.V76D(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AGAGACTCAGTCATCAATTTG	0.423																																					p.V76D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T227A	5						.						113.0	105.0	108.0					5																	109049312		2202	4300	6502	109077211	SO:0001583	missense	4124	exon2				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.227T>A	5.37:g.109049312T>A	ENSP00000261483:p.Val76Asp		109077211	NM_002372	Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.672691	0.88445	.	.	ENSG00000112893	ENST00000261483	D	0.81908	-1.55	5.43	5.43	0.79202	.	0.131690	0.50627	D	0.000118	D	0.88768	0.6526	M	0.79693	2.465	0.80722	D	1	P	0.44776	0.843	P	0.51701	0.677	D	0.90369	0.4379	10	0.87932	D	0	-11.4362	15.5213	0.75869	0.0:0.0:0.0:1.0	.	76	Q16706	MA2A1_HUMAN	D	76	ENSP00000261483:V76D	ENSP00000261483:V76D	V	+	2	0	MAN2A1	109077211	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.392000	0.73213	2.081000	0.62600	0.477000	0.44152	GTC		0.423	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1		
APC	324	hgsc.bcm.edu	37	5	112164616	112164616	+	Nonsense_Mutation	SNP	C	C	T	rs137854574		TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr5:112164616C>T	ENST00000457016.1	+	14	2070	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	APC_ENST00000508376.2_Nonsense_Mutation_p.R564*|CTC-554D6.1_ENST00000520401.1_Silent_p.C59C|APC_ENST00000257430.4_Nonsense_Mutation_p.R564*			P25054	APC_HUMAN	adenomatous polyposis coli	564	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R564*(14)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGACGTTGCGAGAAGTTGG	0.313		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R546X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,NS,Substitution - Nonsense,0	.	15	Substitution - Nonsense(14)|Unknown(1)	large_intestine(14)|skin(1)	c.C1636T	5	GRCh37	CM920035	APC	M	rs137854574	.						126.0	137.0	134.0					5																	112164616		2202	4300	6502	112192515	SO:0001587	stop_gained	324	exon12	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1690C>T	5.37:g.112164616C>T	ENSP00000413133:p.Arg564*		112192515	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	7.921767	0.98563	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.62	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3959	14.5777	0.68262	0.2726:0.7274:0.0:0.0	.	.	.	.	X	564;546;564;564;564	.	ENSP00000257430:R564X	R	+	1	2	APC	112192515	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.526000	0.45607	1.313000	0.45069	0.655000	0.94253	CGA		0.313	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PAIP2	51247	hgsc.bcm.edu	37	5	138699557	138699557	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr5:138699557C>G	ENST00000394795.2	+	2	1075	c.84C>G	c.(82-84)gaC>gaG	p.D28E	PAIP2_ENST00000511706.1_Missense_Mutation_p.D28E|CTB-43P18.1_ENST00000503553.3_RNA|PAIP2_ENST00000511381.1_Intron|PAIP2_ENST00000510080.1_Missense_Mutation_p.D28E|PAIP2_ENST00000265192.4_Missense_Mutation_p.D28E			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	28	PABPC1-interacting motif-1 (PAM1).				memory (GO:0007613)|negative regulation of translational initiation (GO:0045947)|regulation of long-term synaptic potentiation (GO:1900271)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mRNA binding (GO:0003729)|translation repressor activity (GO:0030371)	p.D28E(1)		kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGAAGATGACAATCCATTTG	0.388																																					p.D28E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C84G	5						.						139.0	122.0	128.0					5																	138699557		2203	4300	6503	138727456	SO:0001583	missense	51247	exon2			AF151052	CCDS4211.1	5q32	2008-02-05			ENSG00000120727	ENSG00000120727			17970	protein-coding gene	gene with protein product		605604				11172725, 16804161	Standard	NM_016480		Approved	PAIP2A	uc003led.3	Q9BPZ3	OTTHUMG00000129227	ENST00000394795.2:c.84C>G	5.37:g.138699557C>G	ENSP00000378275:p.Asp28Glu		138727456	NM_001033112	B2RBI1|D3DQC6|Q49A06|Q9H0Y5|Q9P0Q8	Missense_Mutation	SNP	ENST00000394795.2	37	CCDS4211.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778300	0.31502	.	.	ENSG00000120727	ENST00000507755;ENST00000265192;ENST00000511706;ENST00000394795;ENST00000510080	.	.	.	5.87	3.07	0.35406	.	0.057693	0.64402	D	0.000002	T	0.38852	0.1056	L	0.42245	1.32	0.35773	D	0.821064	B	0.32753	0.383	B	0.33339	0.162	T	0.35748	-0.9776	9	0.10902	T	0.67	-18.6493	9.0698	0.36486	0.0:0.6358:0.0:0.3642	.	28	Q9BPZ3	PAIP2_HUMAN	E	28	.	ENSP00000265192:D28E	D	+	3	2	PAIP2	138727456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.937000	0.28951	0.915000	0.36847	0.655000	0.94253	GAC		0.388	PAIP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373002.1	NM_016480	
PCDHGC3	5098	hgsc.bcm.edu	37	5	140855826	140855826	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr5:140855826G>C	ENST00000308177.3	+	1	247	c.143G>C	c.(142-144)gGc>gCc	p.G48A	PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G48A(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGCTGTGGGCAACGTGGTC	0.557																																					p.G48A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G143C	5						.						146.0	150.0	149.0					5																	140855826		2203	4300	6503	140836010	SO:0001583	missense	5098	exon1			AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.143G>C	5.37:g.140855826G>C	ENSP00000312070:p.Gly48Ala		140836010	NM_032402	O60622|Q08192|Q9Y5C4	Missense_Mutation	SNP	ENST00000308177.3	37	CCDS4261.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723382	0.68959	.	.	ENSG00000240184	ENST00000308177	T	0.36878	1.23	5.65	4.78	0.61160	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.55465	0.1922	L	0.59436	1.845	0.40497	D	0.980606	D;D	0.69078	0.997;0.994	D;D	0.69824	0.966;0.91	T	0.61367	-0.7077	9	0.87932	D	0	.	14.6984	0.69139	0.0687:0.0:0.9313:0.0	.	48;48	Q9UN70;Q9UN70-2	PCDGK_HUMAN;.	A	48	ENSP00000312070:G48A	ENSP00000312070:G48A	G	+	2	0	PCDHGC3	140836010	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.816000	0.86201	1.636000	0.50526	-0.136000	0.14681	GGC		0.557	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588	
STK10	6793	hgsc.bcm.edu	37	5	171544539	171544539	+	Nonsense_Mutation	SNP	G	G	A	rs199657750		TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3581-01A-01W-0831-10	TCGA-AG-3581-10A-01W-0831-10	g.chr5:171544539G>A	ENST00000176763.5	-	4	809	c.466C>T	c.(466-468)Cga>Tga	p.R156*		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	156	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.R156*(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCAGATCTCGGTGGATGATC	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		13892	0.001		0.0	False		,,,				2504	0.0				p.R156X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C466T	5						.						109.0	92.0	98.0					5																	171544539		2203	4300	6503	171477144	SO:0001587	stop_gained	6793	exon4			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.466C>T	5.37:g.171544539G>A	ENSP00000176763:p.Arg156*		171477144	NM_005990	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Nonsense_Mutation	SNP	ENST00000176763.5	37	CCDS34290.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	40	8.467876	0.98825	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0851	0.53691	0.0:0.0:0.8282:0.1718	.	.	.	.	X	156	.	ENSP00000176763:R156X	R	-	1	2	STK10	171477144	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	2.918000	0.48829	2.619000	0.88677	0.563000	0.77884	CGA		0.592	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990	
