#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_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_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
HDGF	3068	genome.wustl.edu	37	1	156713596	156713596	+	Silent	SNP	C	C	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr1:156713596C>T	ENST00000357325.5	-	5	878	c.564G>A	c.(562-564)gaG>gaA	p.E188E	HDGF_ENST00000416666.2_Silent_p.E156E|HDGF_ENST00000537739.1_Silent_p.E188E|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Silent_p.E204E|MRPL24_ENST00000361531.2_5'Flank|HDGF_ENST00000368209.5_Silent_p.E181E|MRPL24_ENST00000368211.4_5'Flank	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	188	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		GAAGGGGCCTCTCAACCTCCA	0.587																																						dbGAP											0			1											48.0	47.0	47.0					1																	156713596		2203	4300	6503	154980220	SO:0001819	synonymous_variant	0			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.564G>A	1.37:g.156713596C>T		Somatic	254	0.00	0		268	55.18	330	WXS	Illumina HiSeq	Phase_IV	154980220	110	22.07	32	B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Silent	SNP	HMMPfam_PWWP,HMMSmart_PWWP,superfamily_SSF63748	p.E188	ENST00000357325.5	37	c.564	CCDS1156.1	1																																																																																			-	NULL		0.587	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGF	protein_coding	OTTHUMT00000098946.1	C	NM_004494		154980220	-1	no_errors	NM_004494.1	genbank	human	reviewed	54_36p	silent	SNP	0.286	T
ROBO2	6092	genome.wustl.edu	37	3	75986741	75986741	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr3:75986741G>A	ENST00000487694.3	+	2	376	c.97G>A	c.(97-99)Gga>Aga	p.G33R		NM_001128929.2	NP_001122401.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	17	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.G33*(2)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCAGGGGAATGGACAAGGCCA	0.448																																						dbGAP											2	Substitution - Nonsense(2)	prostate(2)	3											73.0	65.0	68.0					3																	75986741		876	1991	2867	76069431	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000487694.3:c.97G>A	3.37:g.75986741G>A	ENSP00000417335:p.Gly33Arg	Somatic	161	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	76069431	291	16.86	59	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	HMMSmart_IGc2,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726	p.G33R	ENST00000487694.3	37	c.97	CCDS54609.1	3	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347088	0.41599	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019	T	0.61158	0.13	4.5	4.5	0.54988	.	.	.	.	.	T	0.42494	0.1205	N	0.08118	0	0.24323	N	0.99503	.	.	.	.	.	.	T	0.53837	-0.8382	6	0.26408	T	0.33	.	13.4319	0.61059	0.0:0.0:1.0:0.0	.	.	.	.	R	33	ENSP00000417335:G33R	ENSP00000342509:G33R	G	+	1	0	ROBO2	76069431	0.998000	0.40836	0.868000	0.34077	0.718000	0.41266	4.117000	0.57877	2.437000	0.82529	0.544000	0.68410	GGA	-	NULL		0.448	ROBO2-013	NOVEL	basic|CCDS	protein_coding	ROBO2	protein_coding	OTTHUMT00000467720.1	G	XM_031246		76069431	+1	no_stop_codon:overly_large_intron	ENST00000403211	ensembl	human	known	54_36p	missense	SNP	0.742	A
PIK3CB	5291	genome.wustl.edu	37	3	138474789	138474789	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr3:138474789C>T	ENST00000477593.1	-	3	277	c.204G>A	c.(202-204)atG>atA	p.M68I	PIK3CB_ENST00000289153.2_Missense_Mutation_p.M68I			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	68	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	GGAGGTTGAACATTGGGTAAT	0.368																																						dbGAP											0			3											102.0	101.0	102.0					3																	138474789		2203	4300	6503	139957479	SO:0001583	missense	0				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.204G>A	3.37:g.138474789C>T	ENSP00000418143:p.Met68Ile	Somatic	78	0.00	0		106	49.28	103	WXS	Illumina HiSeq	Phase_IV	139957479	104	27.59	40	D3DNF0|Q24JU2	Missense_Mutation	SNP	HMMPfam_PI3K_rbd,HMMSmart_PI3K_rbd,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,HMMPfam_PI3Ka,HMMSmart_PI3Ka,HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B,superfamily_C2_CaLB,superfamily_Kinase_like,superfamily_ARM-type_fold,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_SSF54236	p.M68I	ENST00000477593.1	37	c.204	CCDS3104.1	3	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545999	0.45383	.	.	ENSG00000051382	ENST00000477593;ENST00000289153;ENST00000483968;ENST00000461451	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.22	4.33	0.51752	Phosphatidylinositol 3-kinase, p85-binding (2);	0.116289	0.64402	D	0.000015	T	0.59128	0.2171	N	0.22421	0.69	0.80722	D	1	B	0.16802	0.019	B	0.19946	0.027	T	0.55792	-0.8085	10	0.46703	T	0.11	-14.7719	15.4405	0.75178	0.0:0.7207:0.2793:0.0	.	68	P42338	PK3CB_HUMAN	I	68	ENSP00000418143:M68I;ENSP00000289153:M68I;ENSP00000419857:M68I;ENSP00000420399:M68I	ENSP00000289153:M68I	M	-	3	0	PIK3CB	139957479	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.764000	0.38471	1.288000	0.44600	0.585000	0.79938	ATG	-	HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B		0.368	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	protein_coding	OTTHUMT00000358019.1	C			139957479	-1	no_errors	NM_006219.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T
SORBS2	8470	genome.wustl.edu	37	4	186544675	186544675	+	Silent	SNP	G	G	A			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr4:186544675G>A	ENST00000284776.7	-	13	2405	c.1896C>T	c.(1894-1896)tcC>tcT	p.S632S	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000431808.1_Silent_p.S632S|SORBS2_ENST00000418609.1_Silent_p.S536S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Silent_p.S732S	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	632					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AAAAGCTTTCGGAGGATGTGA	0.557																																					Esophageal Squamous(153;41 2433 9491 36028)	dbGAP											0			4											55.0	51.0	52.0					4																	186544675		2203	4300	6503	186781669	SO:0001819	synonymous_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1896C>T	4.37:g.186544675G>A		Somatic	42	0.00	0		0	0.00	0	WXS	Illumina HiSeq	Phase_IV	186781669	38	26.92	14	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Sorb,HMMSmart_SM00459,PatternScan_ZINC_FINGER_C2H2_1	p.S632	ENST00000284776.7	37	c.1896	CCDS3845.1	4																																																																																			-	NULL		0.557	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	protein_coding	OTTHUMT00000347944.3	G	NM_003603		186781669	-1	no_errors	NM_021069.1	genbank	human	reviewed	54_36p	silent	SNP	0.811	A
VARS2	57176	genome.wustl.edu	37	6	30887907	30887907	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr6:30887907G>A	ENST00000321897.5	+	12	1839	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	VARS2_ENST00000416670.2_Missense_Mutation_p.E403K|VARS2_ENST00000542001.1_Missense_Mutation_p.E263K|VARS2_ENST00000541562.1_Missense_Mutation_p.E433K|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	403					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TGCCGATGCTGAGATGGGGGC	0.587																																						dbGAP											0			6											77.0	72.0	74.0					6																	30887907		1510	2708	4218	30995886	SO:0001583	missense	0			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1207G>A	6.37:g.30887907G>A	ENSP00000316092:p.Glu403Lys	Somatic	75	0.00	0		13	23.53	4	WXS	Illumina HiSeq	Phase_IV	30995886	56	25.33	19	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1,superfamily_Nucleotidylyl transferase	p.E403K	ENST00000321897.5	37	c.1207	CCDS34387.1	6	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240452	0.79912	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.81	4.81	0.61882	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.133751	0.50627	D	0.000111	T	0.53351	0.1791	M	0.83118	2.625	0.39845	D	0.973166	D;D;P	0.57257	0.979;0.973;0.886	D;P;P	0.62955	0.909;0.885;0.457	T	0.62793	-0.6779	10	0.87932	D	0	-23.4448	15.3984	0.74816	0.0:0.0:1.0:0.0	.	401;433;403	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	K	403;403;263;433	ENSP00000316092:E403K;ENSP00000394802:E403K;ENSP00000438200:E263K;ENSP00000441000:E433K	ENSP00000316092:E403K	E	+	1	0	VARS2	30995886	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.966000	0.70395	2.222000	0.72286	0.462000	0.41574	GAG	-	HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Nucleotidylyl transferase		0.587	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	protein_coding	OTTHUMT00000076566.2	G	NM_020442		30995886	+1	no_errors	NM_020442.3	genbank	human	provisional	54_36p	missense	SNP	0.997	A
TTBK1	84630	genome.wustl.edu	37	6	43223370	43223370	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr6:43223370G>T	ENST00000259750.4	+	8	806	c.723G>T	c.(721-723)aaG>aaT	p.K241N	TTBK1_ENST00000304139.5_Missense_Mutation_p.K190N	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCTGGAGGAAGATCAAGGACA	0.637																																						dbGAP											0			6											55.0	52.0	53.0					6																	43223370		2203	4300	6503	43331348	SO:0001583	missense	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.723G>T	6.37:g.43223370G>T	ENSP00000259750:p.Lys241Asn	Somatic	97	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	43331348	38	20.83	10	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.K241N	ENST00000259750.4	37	c.723	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279209	0.40294	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.18810	2.19	4.85	3.05	0.35203	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	L	0.27944	0.81	0.45403	D	0.998385	D	0.89917	1.0	D	0.91635	0.999	T	0.03025	-1.1081	10	0.66056	D	0.02	.	7.258	0.26187	0.2731:0.0:0.7269:0.0	.	241	Q5TCY1	TTBK1_HUMAN	N	190;241;190	ENSP00000259750:K241N	ENSP00000259750:K241N	K	+	3	2	TTBK1	43331348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.334000	0.43920	1.051000	0.40369	0.563000	0.77884	AAG	-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)		0.637	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	protein_coding	OTTHUMT00000040584.3	G			43331348	+1	no_errors	NM_032538.1	genbank	human	validated	54_36p	missense	SNP	1.000	T
RBBP4P4	727842	genome.wustl.edu	37	6	58446138	58446138	+	IGR	SNP	G	G	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr6:58446138G>T								XXbac-BPG55C20.7 (147642 upstream) : RP11-143A22.1 (42749 downstream)																							ATCACCCAAGGTTCGTTGGGA	0.438																																						dbGAP											0			6																																								58554097	SO:0001628	intergenic_variant	0																															6.37:g.58446138G>T		Somatic	93	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	58554097	69	27.84	27		RNA	SNP	-	NULL		37	NULL		6																																																																																			-	-	0	0.438					LOC727842			G			58554097	-1	pseudogene	XR_015140.2	genbank	human	model	54_36p	rna	SNP	1.000	T
CCZ1	51622	genome.wustl.edu	37	7	5942327	5942327	+	Silent	SNP	C	C	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr7:5942327C>T	ENST00000325974.6	+	6	540	c.474C>T	c.(472-474)gaC>gaT	p.D158D	CCZ1_ENST00000537980.1_Silent_p.D15D	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	158				LKAMEDGGVK -> PESHGRRRVQ (in Ref. 1; AAD34038). {ECO:0000305}.		lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						CCATGGAAGACGGAGGCGTCA	0.338																																						dbGAP											0			7											41.0	44.0	43.0					7																	5942327		2195	4291	6486	5908853	SO:0001819	synonymous_variant	0			AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 28A"""	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.474C>T	7.37:g.5942327C>T		Somatic	37	0.00	0		13	7.14	1	WXS	Illumina HiSeq	Phase_IV	5908853	72	21.74	20	A2RU45|O95766|Q9UG65|Q9Y359	Silent	SNP	HMMPfam_DUF2049	p.D158	ENST00000325974.6	37	c.474	CCDS34597.1	7																																																																																			-	HMMPfam_DUF2049		0.338	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf28A	protein_coding	OTTHUMT00000340391.1	C	NM_015622		5908853	+1	no_errors	NM_015622.5	genbank	human	validated	54_36p	silent	SNP	1.000	T
CUL1	8454	genome.wustl.edu	37	7	148457522	148457522	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr7:148457522G>T	ENST00000325222.4	+	7	1002	c.723G>T	c.(721-723)gaG>gaT	p.E241D	CUL1_ENST00000409469.1_Missense_Mutation_p.E241D|CUL1_ENST00000602748.1_Missense_Mutation_p.E241D	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	241					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CTGACACAGAGAGATTTTATA	0.358																																						dbGAP											0			7											127.0	144.0	138.0					7																	148457522		2203	4300	6503	148088455	SO:0001583	missense	0			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.723G>T	7.37:g.148457522G>T	ENSP00000326804:p.Glu241Asp	Somatic	53	0.00	0		14	44.00	11	WXS	Illumina HiSeq	Phase_IV	148088455	49	35.53	27	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	"HMMPfam_Cullin,PatternScan_CULLIN_1,HMMSmart_SM00182,superfamily_Cullin homology domain,superfamily_Cullin repeat,HMMPfam_Cullin_Nedd8,superfamily_""Winged helix"" DNA-binding domain"	p.E241D	ENST00000325222.4	37	c.723	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801107	0.70567	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.74632	-0.86;-0.86	4.84	1.49	0.22878	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	M	0.77712	2.385	0.58432	D	0.999996	P	0.46512	0.879	P	0.56042	0.79	T	0.74266	-0.3721	10	0.27785	T	0.31	-1.3732	7.6145	0.28150	0.4062:0.0:0.5938:0.0	.	241	Q13616	CUL1_HUMAN	D	241;241;199;168	ENSP00000387160:E241D;ENSP00000326804:E241D	ENSP00000326804:E241D	E	+	3	2	CUL1	148088455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.562000	0.36353	0.564000	0.29238	0.585000	0.79938	GAG	-	HMMPfam_Cullin,superfamily_Cullin repeat		0.358	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148088455	+1	no_errors	NM_003592.2	genbank	human	validated	54_36p	missense	SNP	0.997	T
DLC1	10395	genome.wustl.edu	37	8	12952666	12952666	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr8:12952666G>A	ENST00000276297.4	-	11	3665	c.3256C>T	c.(3256-3258)Cgc>Tgc	p.R1086C	DLC1_ENST00000358919.2_Missense_Mutation_p.R649C|DLC1_ENST00000512044.2_Missense_Mutation_p.R683C|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.R575C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1086	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGTCCTGTGCGCTGCACGTTG	0.572																																						dbGAP											0			8											138.0	107.0	117.0					8																	12952666		2203	4300	6503	12997037	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3256C>T	8.37:g.12952666G>A	ENSP00000276297:p.Arg1086Cys	Somatic	107	0.00	0		109	46.34	95	WXS	Illumina HiSeq	Phase_IV	12997037	51	33.77	26	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_START,HMMSmart_SM00234,superfamily_GTPase activation domain GAP,HMMPfam_SAM_2,superfamily_Bet v1-like	p.R1086C	ENST00000276297.4	37	c.3256	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334804	0.81801	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.97	4.97	0.65823	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	0.968;1.0;1.0	P;D;D	0.81914	0.531;0.994;0.995	D	0.85289	0.1066	10	0.87932	D	0	.	18.8143	0.92071	0.0:0.0:1.0:0.0	.	1086;683;649	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	C	1086;649;25;683;575	ENSP00000276297:R1086C;ENSP00000351797:R649C;ENSP00000422595:R683C;ENSP00000428028:R575C	ENSP00000276297:R1086C	R	-	1	0	DLC1	12997037	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.336000	0.65935	2.761000	0.94854	0.650000	0.86243	CGC	-	superfamily_GTPase activation domain GAP		0.572	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094		12997037	-1	no_errors	NM_182643.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CAMSAP1	157922	genome.wustl.edu	37	9	138714500	138714500	+	Silent	SNP	T	T	C			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr9:138714500T>C	ENST00000389532.4	-	11	2071	c.2007A>G	c.(2005-2007)ccA>ccG	p.P669P	CAMSAP1_ENST00000312405.6_Silent_p.P391P|CAMSAP1_ENST00000409386.3_Silent_p.P680P|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	669					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCACTGACAGTGGTCCTGTCT	0.572																																						dbGAP											0			9											47.0	49.0	49.0					9																	138714500		2203	4300	6503	137854321	SO:0001819	synonymous_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2007A>G	9.37:g.138714500T>C		Somatic	22	0.00	0		13	23.53	4	WXS	Illumina HiSeq	Phase_IV	137854321	37	26.92	14	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	superfamily_PRC-barrel domain,HMMPfam_DUF1781	p.P391	ENST00000389532.4	37	c.1173	CCDS35176.2	9																																																																																			-	NULL		0.572	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	protein_coding	OTTHUMT00000055024.2	T	XM_351857		137854321	-1	no_errors	NM_015447.3	genbank	human	validated	54_36p	silent	SNP	0.000	C
SIDT2	51092	genome.wustl.edu	37	11	117063898	117063898	+	Missense_Mutation	SNP	A	A	G	rs376002565		TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr11:117063898A>G	ENST00000324225.4	+	23	2666	c.2135A>G	c.(2134-2136)aAt>aGt	p.N712S	SIDT2_ENST00000431081.2_Missense_Mutation_p.N709S|SIDT2_ENST00000532062.1_Missense_Mutation_p.N4S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	712					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		ATGCGCCCCAATGATTTCGCT	0.562																																						dbGAP											0			11						A	SER/ASN	0,4402		0,0,2201	423.0	403.0	410.0		2135	5.4	1.0	11		410	1,8591	1.2+/-3.3	0,1,4295	no	missense	SIDT2	NM_001040455.1	46	0,1,6496	GG,GA,AA		0.0116,0.0,0.0077	benign	712/833	117063898	1,12993	2201	4296	6497	116569108	SO:0001583	missense	0			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2135A>G	11.37:g.117063898A>G	ENSP00000314023:p.Asn712Ser	Somatic	44	0.00	0		60	28.57	24	WXS	Illumina HiSeq	Phase_IV	116569108	40	24.07	13	Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.N712S	ENST00000324225.4	37	c.2135	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380561	0.61845	0.0	1.16E-4	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000392956;ENST00000525478;ENST00000532062	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.44	5.44	0.79542	.	0.044083	0.85682	D	0.000000	T	0.25568	0.0622	L	0.46614	1.455	0.48511	D	0.999665	P;P;B;P	0.41131	0.68;0.739;0.409;0.727	B;B;B;P	0.45660	0.356;0.225;0.216;0.489	T	0.02042	-1.1224	10	0.17369	T	0.5	-15.959	15.3236	0.74141	1.0:0.0:0.0:0.0	.	733;709;712;733	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	S	712;733;709;66;50;4	ENSP00000314023:N712S;ENSP00000278951:N733S;ENSP00000399635:N709S;ENSP00000435890:N50S;ENSP00000432432:N4S	ENSP00000278951:N733S	N	+	2	0	SIDT2	116569108	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.682000	0.54656	2.281000	0.76405	0.533000	0.62120	AAT	-	NULL		0.562	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	protein_coding	OTTHUMT00000392836.1	A	NM_015996		116569108	+1	no_errors	NM_001040455.1	genbank	human	validated	54_36p	missense	SNP	1.000	G
OR8B12	219858	genome.wustl.edu	37	11	124412778	124412778	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr11:124412778T>C	ENST00000306842.2	-	1	797	c.773A>G	c.(772-774)tAt>tGt	p.Y258C		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGGTTTGAGATACATGAAAGC	0.438																																						dbGAP											0			11											97.0	92.0	94.0					11																	124412778		2201	4299	6500	123917988	SO:0001583	missense	0				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.773A>G	11.37:g.124412778T>C	ENSP00000307159:p.Tyr258Cys	Somatic	67	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	123917988	96	21.77	27	B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.Y258C	ENST00000306842.2	37	c.773	CCDS31711.1	11	.	.	.	.	.	.	.	.	.	.	T	11.66	1.706279	0.30232	.	.	ENSG00000170953	ENST00000306842	T	0.00295	8.25	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000110	T	0.00875	0.0029	M	0.93638	3.44	0.32933	D	0.517399	D	0.89917	1.0	D	0.80764	0.994	T	0.08330	-1.0727	10	0.87932	D	0	.	11.0526	0.47898	0.0:0.0:0.0:1.0	.	258	Q8NGG6	OR8BC_HUMAN	C	258	ENSP00000307159:Y258C	ENSP00000307159:Y258C	Y	-	2	0	OR8B12	123917988	0.979000	0.34478	1.000000	0.80357	0.483000	0.33249	2.549000	0.45803	1.988000	0.58038	0.528000	0.53228	TAT	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.438	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B12	protein_coding	OTTHUMT00000387061.1	T			123917988	-1	no_errors	NM_001005195.1	genbank	human	provisional	54_36p	missense	SNP	0.223	C
TUBA3C	7278	genome.wustl.edu	37	13	19751444	19751444	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr13:19751444G>T	ENST00000400113.3	-	4	783	c.679C>A	c.(679-681)Ctc>Atc	p.L227I		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	227					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AGGCGATTGAGGTTGGTGTAC	0.547																																						dbGAP											0			13											203.0	171.0	182.0					13																	19751444		2203	4300	6503	18649444	SO:0001583	missense	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.679C>A	13.37:g.19751444G>T	ENSP00000382982:p.Leu227Ile	Somatic	58	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	18649444	50	20.63	13	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like	p.L227I	ENST00000400113.3	37	c.679	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	g	6.123	0.391016	0.11581	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.68624	-0.34	1.19	1.19	0.21007	.	0.000000	0.38111	U	0.001807	T	0.70456	0.3226	.	.	.	0.40297	D	0.978564	.	.	.	.	.	.	T	0.72798	-0.4184	7	0.87932	D	0	.	8.3297	0.32178	0.0:0.0:1.0:0.0	.	.	.	.	I	227	ENSP00000382982:L227I	ENSP00000354037:L227I	L	-	1	0	TUBA3C	18649444	1.000000	0.71417	0.995000	0.50966	0.296000	0.27459	2.173000	0.42472	0.972000	0.38314	0.175000	0.17021	CTC	-	HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like		0.547	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	protein_coding	OTTHUMT00000044007.2	G	NM_006001		18649444	-1	no_errors	NM_006001.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
NRXN3	9369	genome.wustl.edu	37	14	80271522	80271522	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr14:80271522A>G	ENST00000557594.1	+	5	1930	c.977A>G	c.(976-978)gAg>gGg	p.E326G	NRXN3_ENST00000554719.1_Missense_Mutation_p.E958G|NRXN3_ENST00000428277.2_Missense_Mutation_p.E356G|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000281127.7_Missense_Mutation_p.E326G|NRXN3_ENST00000335750.5_Missense_Mutation_p.E958G	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	326					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTTGAATGTGAGCCGAGTACA	0.343																																						dbGAP											0			14											271.0	234.0	247.0					14																	80271522		2203	4300	6503	79341275	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.977A>G	14.37:g.80271522A>G	ENSP00000451672:p.Glu326Gly	Somatic	236	0.42	1		2	0.00	0	WXS	Illumina HiSeq	Phase_IV	79341275	194	31.21	88	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_LamG,HMMSmart_4.1m,HMMPfam_EGF,HMMSmart_EGF,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2	p.E958G	ENST00000557594.1	37	c.2873		14	.	.	.	.	.	.	.	.	.	.	A	12.07	1.827100	0.32329	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.69685	-0.42;-0.42;0.91;1.29;1.11	5.41	5.41	0.78517	.	0.156720	0.44483	D	0.000444	T	0.64472	0.2601	L	0.52905	1.665	0.44417	D	0.997337	B;B;B;B	0.23735	0.01;0.09;0.019;0.001	B;B;B;B	0.30782	0.061;0.12;0.024;0.005	T	0.60306	-0.7289	9	.	.	.	.	15.4541	0.75299	1.0:0.0:0.0:0.0	.	356;326;326;958	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	G	1331;1350;958;958;326;326;356	ENSP00000451648:E958G;ENSP00000338349:E958G;ENSP00000451672:E326G;ENSP00000281127:E326G;ENSP00000394426:E356G	.	E	+	2	0	NRXN3	79341275	1.000000	0.71417	0.745000	0.31077	0.447000	0.32167	6.923000	0.75817	2.048000	0.60808	0.528000	0.53228	GAG	-	NULL		0.343	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	protein_coding	OTTHUMT00000413790.1	A	NM_001105250		79341275	+1	no_errors	NM_004796.1	genbank	human	reviewed	54_36p	missense	SNP	0.998	G
CASC4	113201	genome.wustl.edu	37	15	44695122	44695122	+	Silent	SNP	G	G	A	rs370148920		TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr15:44695122G>A	ENST00000299957.6	+	9	1409	c.1110G>A	c.(1108-1110)ccG>ccA	p.P370P	CASC4_ENST00000360824.3_Intron|CASC4_ENST00000345795.2_Intron|RP11-516C1.1_ENST00000558047.1_RNA	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	370						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CTGTTGATCCGCAGCATGGCT	0.443																																						dbGAP											0			15						G	,	0,4396		0,0,2198	99.0	86.0	91.0		1110,	5.8	1.0	15		91	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,intron	CASC4	NM_138423.3,NM_177974.2	,	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	,	370/437,	44695122	1,12991	2198	4298	6496	42482414	SO:0001819	synonymous_variant	0			AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000299957.6:c.1110G>A	15.37:g.44695122G>A		Somatic	53	0.00	0		11	66.67	22	WXS	Illumina HiSeq	Phase_IV	42482414	67	31.68	32	B4DPZ6|G5E934|Q6UY45|Q96EM1	Silent	SNP	NULL	p.P370	ENST00000299957.6	37	c.1110	CCDS10108.1	15																																																																																			-	NULL		0.443	CASC4-001	KNOWN	basic|CCDS	protein_coding	CASC4	protein_coding	OTTHUMT00000253815.1	G	NM_138423		42482414	+1	no_errors	NM_138423.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
EDC4	23644	genome.wustl.edu	37	16	67912443	67912443	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr16:67912443C>T	ENST00000358933.5	+	10	1332	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	365					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TTGCAGTGTCCCTTTCTGGAG	0.562																																						dbGAP											0			16											97.0	93.0	94.0					16																	67912443		2198	4300	6498	66469944	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1093C>T	16.37:g.67912443C>T	ENSP00000351811:p.Pro365Ser	Somatic	125	0.00	0		74	37.82	45	WXS	Illumina HiSeq	Phase_IV	66469944	52	22.39	15	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40	p.P365S	ENST00000358933.5	37	c.1093	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877602	0.72294	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	L	0.45581	1.43	0.80722	D	1	D;D	0.69078	0.97;0.997	P;P	0.61397	0.816;0.888	T	0.73272	-0.4035	9	0.56958	D	0.05	-7.0156	19.4328	0.94778	0.0:1.0:0.0:0.0	.	297;365	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	S	365;297	.	ENSP00000351811:P365S	P	+	1	0	EDC4	66469944	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.759000	0.85235	2.711000	0.92665	0.561000	0.74099	CCT	-	HMMSmart_SM00320,superfamily_WD40 repeat-like		0.562	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	protein_coding	OTTHUMT00000268874.2	C	NM_014329		66469944	+1	no_errors	NM_014329.3	genbank	human	validated	54_36p	missense	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	17											47.0	47.0	47.0					17																	7578394		2203	4300	6503	7519119	SO:0001583	missense	0	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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	Somatic	65	0.00	0		28	85.11	160	WXS	Illumina HiSeq	Phase_IV	7519119	62	59.09	91	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	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.H179R	ENST00000269305.4	37	c.536	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546		7519119	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	0.999	C
CD320	51293	genome.wustl.edu	37	19	8369962	8369962	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr19:8369962C>G	ENST00000301458.5	-	2	285	c.221G>C	c.(220-222)tGc>tCc	p.C74S	CD320_ENST00000537716.2_Intron|CD320_ENST00000596246.1_5'Flank	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	74	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						GTCCCTGTCGCAGCGCCAGGT	0.662																																						dbGAP											0			19											52.0	49.0	50.0					19																	8369962		2203	4300	6503	8275962	SO:0001583	missense	0			AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"""CD molecules"""	16692	protein-coding gene	gene with protein product	"""8D6 antigen"""	606475	"""CD320 antigen"""			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.221G>C	19.37:g.8369962C>G	ENSP00000301458:p.Cys74Ser	Somatic	35	0.00	0		11	80.36	45	WXS	Illumina HiSeq	Phase_IV	8275962	21	58.00	29	B2RDS5|D6W668|F5H6D3|Q53HF7	Missense_Mutation	SNP	HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich	p.C74S	ENST00000301458.5	37	c.221	CCDS12198.1	19	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496523	0.64186	.	.	ENSG00000167775	ENST00000301458	D	0.99751	-6.63	4.87	4.87	0.63330	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.50627	D	0.000103	D	0.99889	0.9947	H	0.99487	4.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96328	0.9241	10	0.87932	D	0	-21.445	14.2342	0.65913	0.0:1.0:0.0:0.0	.	74	Q9NPF0	CD320_HUMAN	S	74	ENSP00000301458:C74S	ENSP00000301458:C74S	C	-	2	0	CD320	8275962	0.990000	0.36364	0.769000	0.31535	0.085000	0.17905	4.635000	0.61332	2.644000	0.89710	0.655000	0.94253	TGC	-	HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich		0.662	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD320	protein_coding	OTTHUMT00000461366.1	C	NM_016579		8275962	-1	no_errors	NM_016579.2	genbank	human	validated	54_36p	missense	SNP	0.974	G
TMEM205	374882	genome.wustl.edu	37	19	11456305	11456305	+	Splice_Site	SNP	C	C	G			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr19:11456305C>G	ENST00000447337.1	-	2	298		c.e2-1		TMEM205_ENST00000354882.5_5'UTR|TMEM205_ENST00000587948.1_Splice_Site|TMEM205_ENST00000593256.2_Splice_Site|TMEM205_ENST00000589555.1_5'UTR|CCDC159_ENST00000587100.1_Intron|TMEM205_ENST00000586218.1_Intron|TMEM205_ENST00000588560.1_5'UTR|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000586590.1_Splice_Site|CCDC159_ENST00000458408.1_5'Flank|CCDC159_ENST00000588790.1_Intron|TMEM205_ENST00000586956.1_5'UTR	NM_033408.3	NP_212133.1	Q6UW68	TM205_HUMAN	transmembrane protein 205							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TCTTGCAGTCCTGGGAAGGAG	0.587																																						dbGAP											0			19											86.0	61.0	70.0					19																	11456305		2203	4300	6503	11317305	SO:0001630	splice_region_variant	0			AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000447337.1:c.9-1G>C	19.37:g.11456305C>G		Somatic	115	0.00	0		46	17.86	10	WXS	Illumina HiSeq	Phase_IV	11317305	214	10.42	25		Splice_Site	SNP	-	e1-1	ENST00000447337.1	37	c.1-1	CCDS32909.1	19																																																																																			-	-		0.587	TMEM205-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM205	protein_coding	OTTHUMT00000458751.1	C	NM_198536	Intron	11317305	-1	no_errors	ENST00000222124	ensembl	human	known	54_36p	splice_site	SNP	0.166	G
PRKCG	5582	genome.wustl.edu	37	19	54407970	54407970	+	Missense_Mutation	SNP	C	C	T	rs149266855		TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr19:54407970C>T	ENST00000263431.3	+	16	2020	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.R580W	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	580	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GTCGCTTTCCCGGGAAGCCGT	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18642	0.0		0.0	False		,,,				2504	0.001					dbGAP											0			19						C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	87.0	65.0	72.0		1738	4.6	1.0	19	dbSNP_134	72	0,8600		0,0,4300	no	missense	PRKCG	NM_002739.3	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	580/698	54407970	2,13004	2203	4300	6503	59099782	SO:0001583	missense	0			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1738C>T	19.37:g.54407970C>T	ENSP00000263431:p.Arg580Trp	Somatic	115	0.00	0		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	59099782	74	20.43	19	B7Z8Q0	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_C2,HMMSmart_S_TK_X,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_C2_CaLB,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,HMMPfam_Pkinase_C,superfamily_SSF57889	p.R580W	ENST00000263431.3	37	c.1738	CCDS12867.1	19	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853802	0.71719	4.54E-4	0.0	ENSG00000126583	ENST00000540413;ENST00000263431	T;T	0.53640	0.61;0.61	4.63	4.63	0.57726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.61022	0.2314	L	0.58669	1.825	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69307	0.963;0.948	T	0.63102	-0.6712	9	0.87932	D	0	.	10.4405	0.44462	0.1944:0.8056:0.0:0.0	.	580;580	F5H5C4;P05129	.;KPCG_HUMAN	W	580	ENSP00000443493:R580W;ENSP00000263431:R580W	ENSP00000263431:R580W	R	+	1	2	PRKCG	59099782	0.939000	0.31865	1.000000	0.80357	0.996000	0.88848	0.382000	0.20635	2.573000	0.86826	0.561000	0.74099	CGG	-	HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase		0.577	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	protein_coding	OTTHUMT00000139233.3	C	NM_002739		59099782	+1	no_errors	NM_002739.3	genbank	human	reviewed	54_36p	missense	SNP	0.993	T
DNMT3A	1788	genome.wustl.edu	37	2	25470531	25470531	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	T	T	T	-	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr2:25470531delT	ENST00000264709.3	-	8	1280	c.943delA	c.(943-945)atgfs	p.M315fs	DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.M92fs|DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.M126fs|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.M315fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	315	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.M315fs*1(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGCCCGTCATCCACCAAGAC	0.637			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	2											94.0	97.0	96.0					2																	25470531		2203	4300	6503	25324035	SO:0001589	frameshift_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.943delA	2.37:g.25470531delT	ENSP00000264709:p.Met315fs	Somatic	31	0.00	0		7	12.50	1	WXS	Illumina HiSeq	Phase_IV	25324035	26	23.53	8	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.M315fs	ENST00000264709.3	37	c.943	CCDS33157.1	2																																																																																			-	HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	T	NM_022552		25324035	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-
ZNF827	152485	genome.wustl.edu	37	4	146807298	146807298	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	-	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr4:146807298delG	ENST00000508784.1	-	4	1506	c.1279delC	c.(1279-1281)cagfs	p.Q427fs	ZNF827_ENST00000379448.4_Frame_Shift_Del_p.Q427fs|ZNF827_ENST00000513320.1_Frame_Shift_Del_p.Q77fs			Q17R98	ZN827_HUMAN	zinc finger protein 827	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CCCCGATCCTGGTGCTGATGA	0.498																																						dbGAP											0			4											67.0	59.0	62.0					4																	146807298		2203	4300	6503	147026748	SO:0001589	frameshift_variant	0			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1279delC	4.37:g.146807298delG	ENSP00000421863:p.Gln427fs	Somatic	97	0.00	0		10	0.00	0	WXS	Illumina HiSeq	Phase_IV	147026748	82	28.21	33	B7ZL52|Q7Z4S7|Q8N279	Frame_Shift_Del	DEL	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.Q427fs	ENST00000508784.1	37	c.1279		4																																																																																			-	superfamily_SSF57667		0.498	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	protein_coding	OTTHUMT00000364654.2	G	NM_178835		147026748	-1	no_errors	NM_178835.3	genbank	human	validated	54_36p	frame_shift_del	DEL	1.000	-
TP53	7157	genome.wustl.edu	37	17	7574003	7574003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	-	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr17:7574003delG	ENST00000269305.4	-	10	1213	c.1024delC	c.(1024-1026)cgafs	p.R342fs	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Del_p.R342fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	17	GRCh37	CM004908	TP53	M							62.0	48.0	53.0					17																	7574003		2203	4300	6503	7514728	SO:0001589	frameshift_variant	0	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.1024delC	17.37:g.7574003delG	ENSP00000269305:p.Arg342fs	Somatic	117	0.00	0		94	1.04	1	WXS	Illumina HiSeq	Phase_IV	7514728	170	13.30	27	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.R342fs	ENST00000269305.4	37	c.1024	CCDS11118.1	17																																																																																			-	HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7514728	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.397	-
