#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_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_EVS_AA	i_EVS_All	i_EVS_EA	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_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACE	1636	genome.wustl.edu	37	17	61562349	61562349	+	Intron	SNP	A	A	G			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr17:61562349A>G	ENST00000290866.4	+	13	1945				ACE_ENST00000490216.2_Missense_Mutation_p.T41A|ACE_ENST00000413513.3_Missense_Mutation_p.T41A|ACE_ENST00000428043.1_Intron|ACE_ENST00000577647.1_Missense_Mutation_p.T41A|ACE_ENST00000421982.2_Intron|ACE_ENST00000290863.6_Missense_Mutation_p.T41A	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme						angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CACCCATGGGACAAGCAGCCA	0.647																																						dbGAP											0													58.0	73.0	68.0					17																	61562349		2158	4257	6415	-	-	-	SO:0001627	intron_variant	0			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1922-248A>G	17.37:g.61562349A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.T41A	ENST00000290866.4	37	c.121	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	A	7.152	0.583872	0.13749	.	.	ENSG00000159640	ENST00000290863;ENST00000413513	T;T	0.28895	1.66;1.59	3.77	1.47	0.22746	.	.	.	.	.	T	0.17874	0.0429	.	.	.	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.04013	0.0;0.001	T	0.23904	-1.0175	8	0.33940	T	0.23	.	3.7494	0.08561	0.6576:0.2221:0.1203:0.0	.	41;41	B4DXI3;P12821-3	.;.	A	41	ENSP00000290863:T41A;ENSP00000392247:T41A	ENSP00000290863:T41A	T	+	1	0	ACE	58916081	0.000000	0.05858	0.005000	0.12908	0.018000	0.09664	0.545000	0.23268	0.087000	0.17167	0.379000	0.24179	ACA	ACE	-	NULL	ENSG00000159640		0.647	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	61	0.00	0	A			61562349	61562349	+1	no_errors	ENST00000490216	ensembl	human	known	69_37n	missense	94	12.84	14	SNP	0.000	G
CCDC80	151887	genome.wustl.edu	37	3	112358410	112358410	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr3:112358410G>A	ENST00000206423.3	-	2	1296	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	CCDC80_ENST00000439685.2_Missense_Mutation_p.R115C|CCDC80_ENST00000475181.1_5'UTR	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	115					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.R115C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATCATCTCACGCGGAGAGCCC	0.607																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											80.0	77.0	78.0					3																	112358410		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.343C>T	3.37:g.112358410G>A	ENSP00000206423:p.Arg115Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	NULL	p.R115C	ENST00000206423.3	37	c.343	CCDS2968.1	3	.	.	.	.	.	.	.	.	.	.	G	7.964	0.747688	0.15710	.	.	ENSG00000091986	ENST00000206423;ENST00000439685	T;T	0.47869	0.83;0.83	5.35	2.29	0.28610	.	0.304457	0.26130	N	0.026161	T	0.39145	0.1067	L	0.27053	0.805	0.09310	N	0.99999	D;D;D	0.71674	0.998;0.998;0.996	P;P;P	0.53861	0.736;0.72;0.549	T	0.18777	-1.0326	10	0.62326	D	0.03	-5.0669	2.621	0.04916	0.1011:0.1408:0.2919:0.4662	.	126;115;115	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	C	115	ENSP00000206423:R115C;ENSP00000411814:R115C	ENSP00000206423:R115C	R	-	1	0	CCDC80	113841100	0.082000	0.21442	0.016000	0.15963	0.178000	0.23041	1.577000	0.36515	0.786000	0.33708	0.650000	0.86243	CGT	CCDC80	-	NULL	ENSG00000091986		0.607	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC80	HGNC	protein_coding	OTTHUMT00000354219.1	42	0.00	0	G	NM_199511		112358410	112358410	-1	no_errors	ENST00000206423	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	0.003	A
CEP250	11190	genome.wustl.edu	37	20	34057761	34057761	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr20:34057761G>T	ENST00000397527.1	+	10	1618	c.898G>T	c.(898-900)Gaa>Taa	p.E300*	CEP250_ENST00000342580.4_Nonsense_Mutation_p.E300*|CEP250_ENST00000397524.1_Nonsense_Mutation_p.E300*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	300					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAGCAAAATGAAGATTATGA	0.488																																						dbGAP											0													104.0	94.0	97.0					20																	34057761		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.898G>T	20.37:g.34057761G>T	ENSP00000380661:p.Glu300*	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5Q3|O14812|O60588|Q9H450	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.E300*	ENST00000397527.1	37	c.898	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.070284	0.97256	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	.	.	.	5.59	5.59	0.84812	.	3.424730	0.00987	N	0.003471	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	17.7484	0.88427	0.0:0.0:1.0:0.0	.	.	.	.	X	300	.	ENSP00000341541:E300X	E	+	1	0	CEP250	33521175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.487000	0.45268	2.628000	0.89032	0.655000	0.94253	GAA	CEP250	-	NULL	ENSG00000126001		0.488	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	34	0.00	0	G	NM_007186		34057761	34057761	+1	no_errors	ENST00000397527	ensembl	human	known	69_37n	nonsense	63	13.51	10	SNP	1.000	T
CHD4	1108	genome.wustl.edu	37	12	6697097	6697097	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr12:6697097G>A	ENST00000357008.2	-	24	3647	c.3484C>T	c.(3484-3486)Cgg>Tgg	p.R1162W	CHD4_ENST00000544040.1_Missense_Mutation_p.R1155W|CHD4_ENST00000544484.1_Missense_Mutation_p.R1159W|CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000309577.6_Missense_Mutation_p.R1162W	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1162	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R1162W(2)		central_nervous_system(2)	2						TGCCCAATCCGGTGAGCTCTG	0.448																																					Colon(32;586 792 4568 16848 45314)	dbGAP											2	Substitution - Missense(2)	endometrium(2)											70.0	68.0	68.0					12																	6697097		2203	4300	6503	-	-	-	SO:0001583	missense	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3484C>T	12.37:g.6697097G>A	ENSP00000349508:p.Arg1162Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1162W	ENST00000357008.2	37	c.3484	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633796	0.67130	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6	5.91	5.91	0.95273	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99483	0.9816	H	0.99963	5.08	0.80722	D	1	D;D;D	0.89917	0.998;0.998;1.0	P;D;D	0.83275	0.845;0.913;0.996	D	0.97724	1.0198	10	0.87932	D	0	.	15.9295	0.79648	0.0:0.0:0.8569:0.1431	.	1162;1162;1155	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	W	1159;1155;1162;1162;1136	ENSP00000440392:R1159W;ENSP00000440542:R1155W;ENSP00000312419:R1162W;ENSP00000349508:R1162W	ENSP00000312419:R1162W	R	-	1	2	CHD4	6567358	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.056000	0.71111	2.802000	0.96397	0.543000	0.68304	CGG	CHD4	-	pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,smart_Helicase_C,pfscan_Helicase_C	ENSG00000111642		0.448	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		46	0.00	0	G	NM_001273		6697097	6697097	-1	no_errors	ENST00000309577	ensembl	human	known	69_37n	missense	53	17.19	11	SNP	1.000	A
CLCA1	1179	genome.wustl.edu	37	1	86942163	86942163	+	Nonsense_Mutation	SNP	C	C	T	rs189212104		TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr1:86942163C>T	ENST00000234701.3	+	5	835	c.484C>T	c.(484-486)Cga>Tga	p.R162*	CLCA1_ENST00000394711.1_Nonsense_Mutation_p.R162*			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	162	Metalloprotease domain. {ECO:0000269|PubMed:23112050}.				calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGCTCATCTACGATGGGGAGT	0.348													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17133	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													105.0	104.0	104.0					1																	86942163		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.484C>T	1.37:g.86942163C>T	ENSP00000234701:p.Arg162*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Nonsense_Mutation	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.R162*	ENST00000234701.3	37	c.484	CCDS709.1	1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	40	8.005738	0.98605	.	.	ENSG00000016490	ENST00000234701;ENST00000394711	.	.	.	5.85	3.94	0.45596	.	0.156154	0.41712	D	0.000827	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9413	11.2299	0.48905	0.2566:0.6196:0.1238:0.0	.	.	.	.	X	162	.	ENSP00000234701:R162X	R	+	1	2	CLCA1	86714751	0.779000	0.28652	0.666000	0.29783	0.949000	0.60115	1.367000	0.34204	0.784000	0.33661	-0.261000	0.10672	CGA	CLCA1	-	pfam_Cl_channel_Ca,tigrfam_CaCC_prot	ENSG00000016490		0.348	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA1	HGNC	protein_coding	OTTHUMT00000028277.1	92	0.00	0	C	NM_001285		86942163	86942163	+1	no_errors	ENST00000234701	ensembl	human	known	69_37n	nonsense	108	16.92	22	SNP	0.664	T
CNTNAP2	26047	genome.wustl.edu	37	7	146536957	146536957	+	Silent	SNP	G	G	T			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr7:146536957G>T	ENST00000361727.3	+	3	879	c.363G>T	c.(361-363)ggG>ggT	p.G121G		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	121	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCGACACAGGGAGAAACTGGA	0.453										HNSCC(39;0.1)																												dbGAP											0													93.0	88.0	90.0					7																	146536957		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.363G>T	7.37:g.146536957G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G121	ENST00000361727.3	37	c.363	CCDS5889.1	7																																																																																			CNTNAP2	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000174469		0.453	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	39	0.00	0	G			146536957	146536957	+1	no_errors	ENST00000361727	ensembl	human	known	69_37n	silent	70	11.39	9	SNP	0.950	T
CSRNP3	80034	genome.wustl.edu	37	2	166535936	166535936	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr2:166535936C>A	ENST00000342316.4	+	5	1703	c.1431C>A	c.(1429-1431)ttC>ttA	p.F477L	CSRNP3_ENST00000409420.1_Missense_Mutation_p.F509L|CSRNP3_ENST00000314499.7_Missense_Mutation_p.F477L	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	477					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F477F(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CGGAGCAATTCGTTGACTATG	0.498																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											76.0	69.0	71.0					2																	166535936		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1431C>A	2.37:g.166535936C>A	ENSP00000344042:p.Phe477Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	prints_Cys/Ser-rich_nuc_prot	p.F477L	ENST00000342316.4	37	c.1431	CCDS2225.1	2	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446434	0.25987	.	.	ENSG00000178662	ENST00000314499;ENST00000342316;ENST00000409420	T;T;T	0.35421	1.31;1.31;1.31	5.88	-5.78	0.02362	.	0.102135	0.64402	D	0.000002	T	0.19005	0.0456	L	0.27053	0.805	0.32262	N	0.570009	B	0.20368	0.044	B	0.20184	0.028	T	0.17410	-1.0370	9	.	.	.	-19.9318	11.8295	0.52285	0.091:0.2069:0.0:0.7021	.	477	Q8WYN3	CSRN3_HUMAN	L	477;477;509	ENSP00000318258:F477L;ENSP00000344042:F477L;ENSP00000387195:F509L	.	F	+	3	2	CSRNP3	166244182	0.039000	0.19947	0.100000	0.21137	0.896000	0.52359	-0.741000	0.04855	-1.048000	0.03238	-1.202000	0.01658	TTC	CSRNP3	-	NULL	ENSG00000178662		0.498	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP3	HGNC	protein_coding	OTTHUMT00000255191.2	33	0.00	0	C	NM_024969		166535936	166535936	+1	no_errors	ENST00000314499	ensembl	human	known	69_37n	missense	41	14.58	7	SNP	0.620	A
EFCAB5	374786	genome.wustl.edu	37	17	28417634	28417634	+	Silent	SNP	G	G	A			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr17:28417634G>A	ENST00000394835.3	+	20	4071	c.3879G>A	c.(3877-3879)gtG>gtA	p.V1293V	EFCAB5_ENST00000320856.5_Silent_p.V1169V|EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1293							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGGTCCAAGTGGCCTGCTATG	0.383																																						dbGAP											0													130.0	131.0	130.0					17																	28417634		1839	4092	5931	-	-	-	SO:0001819	synonymous_variant	0			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.3879G>A	17.37:g.28417634G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	pfscan_EF_HAND_2	p.V1293	ENST00000394835.3	37	c.3879	CCDS11254.2	17																																																																																			EFCAB5	-	NULL	ENSG00000176927		0.383	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	62	0.00	0	G	NM_198529		28417634	28417634	+1	no_errors	ENST00000394835	ensembl	human	known	69_37n	silent	98	16.95	20	SNP	0.353	A
HEPH	9843	genome.wustl.edu	37	X	65420445	65420445	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chrX:65420445C>T	ENST00000343002.2	+	11	2592	c.1928C>T	c.(1927-1929)gCc>gTc	p.A643V	HEPH_ENST00000441993.2_Missense_Mutation_p.A646V|HEPH_ENST00000336279.5_Missense_Mutation_p.A376V|HEPH_ENST00000519389.1_Missense_Mutation_p.A697V|HEPH_ENST00000419594.1_Intron|HEPH_ENST00000374727.3_Missense_Mutation_p.A646V			Q9BQS7	HEPH_HUMAN	hephaestin	643	Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GACACAGTGGCCTGGCACCTG	0.542																																						dbGAP											0													176.0	113.0	134.0					X																	65420445		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1928C>T	X.37:g.65420445C>T	ENSP00000343939:p.Ala643Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.A697V	ENST00000343002.2	37	c.2090		X	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332002	0.41297	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000343002;ENST00000425114	D;D;D;D;D;D	0.99735	-6.58;-6.58;-6.58;-6.58;-6.58;-6.58	4.84	4.84	0.62591	Cupredoxin (2);	0.549057	0.19320	N	0.117178	D	0.98235	0.9416	N	0.25957	0.775	0.35671	D	0.813347	B;B	0.25563	0.057;0.129	B;B	0.22753	0.017;0.041	D	0.99989	1.3901	10	0.15499	T	0.54	.	15.6744	0.77303	0.0:1.0:0.0:0.0	.	697;643	E9PHN8;Q9BQS7	.;HEPH_HUMAN	V	697;646;376;646;643;600	ENSP00000430620:A697V;ENSP00000363859:A646V;ENSP00000337418:A376V;ENSP00000411687:A646V;ENSP00000343939:A643V;ENSP00000398078:A600V	ENSP00000337418:A376V	A	+	2	0	HEPH	65337170	0.002000	0.14202	0.998000	0.56505	0.981000	0.71138	0.890000	0.28295	2.002000	0.58637	0.600000	0.82982	GCC	HEPH	-	superfamily_Cupredoxin	ENSG00000089472		0.542	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	92	0.00	0	C	NM_138737		65420445	65420445	+1	no_errors	ENST00000519389	ensembl	human	known	69_37n	missense	201	20.55	52	SNP	0.998	T
GSE1	23199	genome.wustl.edu	37	16	85701854	85701854	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr16:85701854A>G	ENST00000253458.7	+	14	3415	c.3239A>G	c.(3238-3240)aAt>aGt	p.N1080S	GSE1_ENST00000405402.2_Missense_Mutation_p.N976S|GSE1_ENST00000393243.1_Missense_Mutation_p.N1007S	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	1080																	CCCCAGCACAATGGGCAGCAG	0.617																																						dbGAP											0													73.0	80.0	78.0					16																	85701854		2198	4300	6498	-	-	-	SO:0001583	missense	0			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.3239A>G	16.37:g.85701854A>G	ENSP00000253458:p.Asn1080Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	pfam_DUF3736	p.N1080S	ENST00000253458.7	37	c.3239	CCDS10952.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.78|14.78	2.638277|2.638277	0.47153|0.47153	.|.	.|.	ENSG00000131149|ENSG00000131149	ENST00000412692;ENST00000438180|ENST00000405402;ENST00000253458;ENST00000393243	.|T;T;T	.|0.38722	.|1.12;1.14;1.12	5.53|5.53	3.27|3.27	0.37495|0.37495	.|.	.|0.233056	.|0.41500	.|D	.|0.000861	T|T	0.57946|0.57946	0.2088|0.2088	M|M	0.66939|0.66939	2.045|2.045	0.41583|0.41583	D|D	0.988753|0.988753	.|D;P;P;P	.|0.71674	.|0.998;0.669;0.669;0.539	.|D;B;B;B	.|0.77004	.|0.989;0.332;0.332;0.178	T|T	0.57329|0.57329	-0.7830|-0.7830	5|10	.|0.87932	.|D	.|0	-16.6913|-16.6913	8.384|8.384	0.32488|0.32488	0.7991:0.1326:0.0683:0.0|0.7991:0.1326:0.0683:0.0	.|.	.|843;976;1007;1080	.|Q59GZ0;Q14687-2;Q14687-3;Q14687	.|.;.;.;GSE1_HUMAN	V|S	849;282|976;1080;1007	.|ENSP00000384839:N976S;ENSP00000253458:N1080S;ENSP00000376934:N1007S	.|ENSP00000253458:N1080S	M|N	+|+	1|2	0|0	KIAA0182|KIAA0182	84259355|84259355	1.000000|1.000000	0.71417|0.71417	0.450000|0.450000	0.26969|0.26969	0.493000|0.493000	0.33554|0.33554	7.032000|7.032000	0.76498|0.76498	0.387000|0.387000	0.25024|0.25024	-0.466000|-0.466000	0.05196|0.05196	ATG|AAT	KIAA0182	-	NULL	ENSG00000131149		0.617	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA0182	HGNC	protein_coding	OTTHUMT00000325527.1	71	0.00	0	A	NM_014615		85701854	85701854	+1	no_errors	ENST00000253458	ensembl	human	known	69_37n	missense	82	20.39	21	SNP	0.993	G
KIF13B	23303	genome.wustl.edu	37	8	28989832	28989832	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr8:28989832G>A	ENST00000524189.1	-	23	2973	c.2935C>T	c.(2935-2937)Cgg>Tgg	p.R979W	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	979					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CACCTGTCCCGAAGACTACGT	0.393																																						dbGAP											0													83.0	85.0	84.0					8																	28989832		1800	4074	5874	-	-	-	SO:0001583	missense	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2935C>T	8.37:g.28989832G>A	ENSP00000427900:p.Arg979Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R979W	ENST00000524189.1	37	c.2935	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650444	0.67472	.	.	ENSG00000197892	ENST00000524189	T	0.77489	-1.1	4.51	3.63	0.41609	.	0.000000	0.85682	D	0.000000	D	0.86564	0.5963	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.88006	0.2759	10	0.72032	D	0.01	.	14.0028	0.64444	0.0:0.0:0.8477:0.1523	.	979	F8VPJ2	.	W	979	ENSP00000427900:R979W	ENSP00000427900:R979W	R	-	1	2	KIF13B	29045751	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.635000	0.46537	1.113000	0.41760	0.467000	0.42956	CGG	KIF13B	-	NULL	ENSG00000197892		0.393	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	62	0.00	0	G			28989832	28989832	-1	no_errors	ENST00000524189	ensembl	human	known	69_37n	missense	83	12.63	12	SNP	0.998	A
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	dbGAP		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91.0	81.0	85.0					12																	25398284		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12V	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000133703		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	76	0.00	0	C	NM_033360		25398284	25398284	-1	no_errors	ENST00000256078	ensembl	human	known	69_37n	missense	139	14.72	24	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	96	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	88	15.38	16	SNP	1.000	A
RNA5SP284	100873537	genome.wustl.edu	37	9	68409027	68409028	+	lincRNA	INS	-	-	A	rs371875931		TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr9:68409027_68409028insA	ENST00000417843.2	-	0	67				RNA5SP284_ENST00000384547.1_RNA																							cctggtaatagcggtaccgtag	0.609																																						dbGAP											0																																										-	-	-			0																															9.37:g.68409027_68409028insA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			RNA5SP284	-	-	ENSG00000207277		0.609	RP11-764K9.1-001	KNOWN	basic	lincRNA	RNA5SP284	HGNC	lincRNA	OTTHUMT00000129817.2	11	0.00	0	-			68409027	68409028	+1	no_errors	ENST00000384547	ensembl	human	known	69_37n	rna	4	42.86	3	INS	0.105:0.101	A
RNA5SP284	100873537	genome.wustl.edu	37	9	68409033	68409033	+	lincRNA	DEL	C	C	-			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr9:68409033delC	ENST00000417843.2	-	0	67				RNA5SP284_ENST00000384547.1_RNA																							aatagcggtaccgtaggcttt	0.617																																						dbGAP											0																																										-	-	-			0																															9.37:g.68409033delC		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			RNA5SP284	-	-	ENSG00000207277		0.617	RP11-764K9.1-001	KNOWN	basic	lincRNA	RNA5SP284	HGNC	lincRNA	OTTHUMT00000129817.2	10	0.00	0	C			68409033	68409033	+1	no_errors	ENST00000384547	ensembl	human	known	69_37n	rna	3	50.00	3	DEL	0.066	-
SETD1B	23067	genome.wustl.edu	37	12	122242717	122242717	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr12:122242717G>A	ENST00000604567.1	+	2	142	c.74G>A	c.(73-75)aGg>aAg	p.R25K	SETD1B_ENST00000542440.1_Missense_Mutation_p.R25K|SETD1B_ENST00000267197.5_Missense_Mutation_p.R25K|RHOF_ENST00000545544.1_5'Flank|RP11-347I19.8_ENST00000609067.1_lincRNA			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	25					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						GGCGAGAGGAGGAACCACCAT	0.587																																						dbGAP											0													51.0	52.0	51.0					12																	122242717		692	1591	2283	-	-	-	SO:0001583	missense	0			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.74G>A	12.37:g.122242717G>A	ENSP00000474253:p.Arg25Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	F6MFW1	Missense_Mutation	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.R25K	ENST00000604567.1	37	c.74		12	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686418	0.29962	.	.	ENSG00000139718	ENST00000542440;ENST00000267197	D;D	0.94046	-3.34;-3.34	2.98	2.04	0.26737	.	.	.	.	.	T	0.81307	0.4795	N	0.14661	0.345	0.40443	D	0.980061	B	0.17852	0.024	B	0.08055	0.003	T	0.71899	-0.4453	9	0.02654	T	1	.	5.8991	0.18955	0.3394:0.0:0.6606:0.0	.	25	Q9UPS6	SET1B_HUMAN	K	25	ENSP00000442924:R25K;ENSP00000267197:R25K	ENSP00000267197:R25K	R	+	2	0	SETD1B	120727100	.	.	1.000000	0.80357	0.995000	0.86356	.	.	1.387000	0.46486	0.455000	0.32223	AGG	SETD1B	-	NULL	ENSG00000139718		0.587	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	HGNC	protein_coding	OTTHUMT00000468264.1	40	0.00	0	G	XM_037523		122242717	122242717	+1	no_errors	ENST00000267197	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	1.000	A
SLC19A1	6573	genome.wustl.edu	37	21	46951916	46951918	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr21:46951916_46951918delCAG	ENST00000311124.4	-	3	486_488	c.334_336delCTG	c.(334-336)ctgdel	p.L112del	SLC19A1_ENST00000567670.1_In_Frame_Del_p.L112del|SLC19A1_ENST00000485649.2_In_Frame_Del_p.L72del|SLC19A1_ENST00000380010.4_In_Frame_Del_p.L112del	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	112					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CCGAGTGGCCCAGCAGCAGCAGC	0.645																																						dbGAP											0									,,	149,4097		7,135,1981					,,	4.9	0.2			27	310,7916		6,298,3809	no	coding,coding,coding	SLC19A1	NM_194255.2,NM_001205207.1,NM_001205206.1	,,	13,433,5790	A1A1,A1R,RR		3.7685,3.5092,3.6802	,,	,,		459,12013				-	-	-	SO:0001651	inframe_deletion	0			U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.334_336delCTG	21.37:g.46951925_46951927delCAG	ENSP00000308895:p.Leu112del	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	In_Frame_Del	DEL	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.L112in_frame_del	ENST00000311124.4	37	c.336_334	CCDS13725.1	21																																																																																			SLC19A1	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	ENSG00000173638		0.645	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	HGNC	protein_coding	OTTHUMT00000206796.1	10	0.00	0	CAG			46951916	46951918	-1	no_errors	ENST00000311124	ensembl	human	known	69_37n	in_frame_del	6	33.33	3	DEL	0.002:0.005:0.002	-
SLC44A3	126969	genome.wustl.edu	37	1	95311008	95311008	+	Silent	SNP	C	C	T			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr1:95311008C>T	ENST00000271227.6	+	9	1162	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000532427.1_Silent_p.L274L|SLC44A3_ENST00000446120.2_Silent_p.L318L|SLC44A3_ENST00000527077.1_Silent_p.L286L|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000467909.1_Silent_p.L306L|SLC44A3_ENST00000529450.1_Silent_p.L322L	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	354					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCTGCTGAGCCTGGGAACTGC	0.537																																						dbGAP											0													96.0	96.0	96.0					1																	95311008		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC033858	CCDS751.1, CCDS44176.1, CCDS58011.1, CCDS58012.1, CCDS58013.1, CCDS72827.1	1p22.1	2013-05-22	2005-09-06		ENSG00000143036	ENSG00000143036		"""Solute carriers"""	28689	protein-coding gene	gene with protein product			"""solute carrier family, member 3"""			15715662, 12975309	Standard	NM_001114106		Approved	MGC45474, CTL3	uc001dqv.5	Q8N4M1	OTTHUMG00000010700	ENST00000271227.6:c.1060C>T	1.37:g.95311008C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVY4|B4E1M4|B7ZA08|E9PJH2|E9PJY8|Q6UWT1|Q7Z6C5|Q9BWY7	Silent	SNP	pfam_Choline_transptr-like	p.L354	ENST00000271227.6	37	c.1060	CCDS44176.1	1																																																																																			SLC44A3	-	pfam_Choline_transptr-like	ENSG00000143036		0.537	SLC44A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A3	HGNC	protein_coding	OTTHUMT00000029544.3	59	0.00	0	C	NM_152369		95311008	95311008	+1	no_errors	ENST00000271227	ensembl	human	known	69_37n	silent	98	19.51	24	SNP	1.000	T
USP24	23358	genome.wustl.edu	37	1	55637338	55637338	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr1:55637338T>C	ENST00000294383.6	-	5	715	c.716A>G	c.(715-717)gAt>gGt	p.D239G	USP24_ENST00000407756.1_Missense_Mutation_p.D127G	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	239					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTATTCATTATCAGGATTGAA	0.323																																						dbGAP											0													55.0	53.0	54.0					1																	55637338		1819	4075	5894	-	-	-	SO:0001583	missense	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.716A>G	1.37:g.55637338T>C	ENSP00000294383:p.Asp239Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.D239G	ENST00000294383.6	37	c.716	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.042144	0.75732	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.38401	1.14;1.14	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.52837	0.1759	L	0.50333	1.59	0.51482	D	0.999927	D	0.63880	0.993	D	0.70935	0.971	T	0.44697	-0.9311	10	0.31617	T	0.26	.	15.0067	0.71519	0.0:0.0:0.0:1.0	.	127	B7WPF4	.	G	239;127	ENSP00000294383:D239G;ENSP00000385700:D127G	ENSP00000294383:D239G	D	-	2	0	USP24	55409926	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.582000	0.82546	2.280000	0.76307	0.496000	0.49642	GAT	USP24	-	NULL	ENSG00000162402		0.323	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	47	0.00	0	T			55637338	55637338	-1	no_errors	ENST00000294383	ensembl	human	known	69_37n	missense	61	15.28	11	SNP	1.000	C
SPTA1	6708	genome.wustl.edu	37	1	158584095	158584095	+	Splice_Site	SNP	C	C	A			TCGA-E9-A1NG-01A-21D-A14K-09	TCGA-E9-A1NG-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1cbf389d-1ec8-4543-880f-4ef64c55a44b	238a0594-90ba-45e5-9936-7a24e49f65cf	g.chr1:158584095C>A	ENST00000368147.4	-	49	6970	c.6790G>T	c.(6790-6792)Gac>Tac	p.D2264Y	SPTA1_ENST00000485680.1_5'Flank	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2264					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTTTGATGTCCCTGAAAGAA	0.328																																						dbGAP											0													63.0	61.0	62.0					1																	158584095		1804	4065	5869	-	-	-	SO:0001630	splice_region_variant	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6789-1G>T	1.37:g.158584095C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.D2264Y	ENST00000368147.4	37	c.6790	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806296	0.50421	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.52295	0.67;0.67	5.53	5.53	0.82687	.	.	.	.	.	T	0.56455	0.1986	M	0.76727	2.345	0.44754	D	0.997755	D	0.64830	0.994	D	0.66847	0.947	T	0.62315	-0.6880	9	0.87932	D	0	.	8.2521	0.31732	0.0:0.8419:0.0:0.1581	.	2264	P02549	SPTA1_HUMAN	Y	2264;2261	ENSP00000357130:D2264Y;ENSP00000357129:D2261Y	ENSP00000357129:D2261Y	D	-	1	0	SPTA1	156850719	1.000000	0.71417	0.770000	0.31555	0.432000	0.31715	3.454000	0.52986	2.879000	0.98667	0.650000	0.86243	GAC	SPTA1	-	NULL	ENSG00000163554		0.328	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	43	0.00	0	C	NM_003126	Missense_Mutation	158584095	158584095	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	46	16.36	9	SNP	0.995	A
