#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
GLI3	2737	hgsc.bcm.edu	37	7	42004042	42004042	+	Silent	SNP	C	C	T			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr7:42004042C>T	ENST00000395925.3	-	15	4713	c.4629G>A	c.(4627-4629)gcG>gcA	p.A1543A	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1543					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A1543A(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATGGGAGGGACGCCCGAGGCG	0.582									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.A1543A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G4629A	7						.						85.0	84.0	85.0					7																	42004042		2203	4300	6503	41970567	SO:0001819	synonymous_variant	2737	exon15	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4629G>A	7.37:g.42004042C>T			41970567	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				0.582	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
TRPV5	56302	hgsc.bcm.edu	37	7	142606681	142606681	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr7:142606681C>T	ENST00000265310.1	-	14	2218	c.1870G>A	c.(1870-1872)Ggg>Agg	p.G624R		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	624					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.G624R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCCCCAGCCCGAATTCGCAC	0.622																																					p.G624R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1870A	7						.						89.0	77.0	81.0					7																	142606681		2203	4300	6503	142316803	SO:0001583	missense	56302	exon14			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1870G>A	7.37:g.142606681C>T	ENSP00000265310:p.Gly624Arg		142316803	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	37	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553337	0.65425	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	T;T	0.80738	-1.38;-1.41	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.90321	0.6972	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91600	0.5294	10	0.87932	D	0	-10.0983	17.3777	0.87397	0.0:1.0:0.0:0.0	.	624	Q9NQA5	TRPV5_HUMAN	R	624;569	ENSP00000265310:G624R;ENSP00000406361:G569R	ENSP00000265310:G624R	G	-	1	0	TRPV5	142316803	1.000000	0.71417	0.976000	0.42696	0.025000	0.11179	5.564000	0.67359	2.672000	0.90937	0.655000	0.94253	GGG		0.622	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
MYLK2	85366	hgsc.bcm.edu	37	20	30421550	30421550	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr20:30421550C>T	ENST00000375994.2	+	12	2014	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.R581C			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	581	Calmodulin-binding. {ECO:0000250}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.R581C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGCTGCCAACCGCTTCAAGAA	0.632											OREG0025857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R581C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1741T	20						.						58.0	57.0	57.0					20																	30421550		2203	4300	6503	29885211	SO:0001583	missense	85366	exon13			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1741C>T	20.37:g.30421550C>T	ENSP00000365162:p.Arg581Cys	817	29885211	NM_033118	Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087693	0.76642	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.70631	-0.5;-0.5	4.95	4.95	0.65309	Protein kinase-like domain (1);	.	.	.	.	T	0.81399	0.4814	L	0.55990	1.75	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.83196	-0.0081	9	0.87932	D	0	.	17.3497	0.87320	0.0:1.0:0.0:0.0	.	581	Q9H1R3	MYLK2_HUMAN	C	581	ENSP00000365162:R581C;ENSP00000365152:R581C	ENSP00000365152:R581C	R	+	1	0	MYLK2	29885211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.337000	0.52120	2.562000	0.86427	0.561000	0.74099	CGC		0.632	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118	
UNC79	57578	hgsc.bcm.edu	37	14	94120108	94120108	+	Missense_Mutation	SNP	C	C	T	rs148490393		TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr14:94120108C>T	ENST00000393151.2	+	37	6221	c.6221C>T	c.(6220-6222)gCg>gTg	p.A2074V	UNC79_ENST00000555664.1_Missense_Mutation_p.A2035V|UNC79_ENST00000256339.4_Missense_Mutation_p.A1897V|UNC79_ENST00000553484.1_Missense_Mutation_p.A2096V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2074					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A1897V(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CCCGGCAATGCGGCGGGGGTG	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		18342	0.001		0.0	False		,,,				2504	0.0				p.A1897V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5690T	14						.	C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	212.0	222.0	219.0		5690	3.2	0.1	14	dbSNP_134	219	0,8598		0,0,4299	no	missense	UNC79	NM_020818.3	64	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	1897/2459	94120108	1,13003	2203	4299	6502	93189861	SO:0001583	missense	57578	exon37			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6221C>T	14.37:g.94120108C>T	ENSP00000376858:p.Ala2074Val		93189861	NM_020818	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.52	1.663312	0.29515	2.27E-4	0.0	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.98	3.17	0.36434	.	0.056041	0.64402	D	0.000001	T	0.26268	0.0641	N	0.14661	0.345	0.44643	D	0.997626	B	0.10296	0.003	B	0.09377	0.004	T	0.04386	-1.0955	10	0.49607	T	0.09	-6.6679	11.9379	0.52884	0.0:0.8576:0.0:0.1424	.	2096	C9JQL1	.	V	1897;2035;2096;2074;2096	ENSP00000256339:A1897V;ENSP00000450868:A2035V;ENSP00000451360:A2096V;ENSP00000376858:A2074V	ENSP00000256339:A1897V	A	+	2	0	KIAA1409	93189861	0.998000	0.40836	0.089000	0.20774	0.688000	0.40055	3.806000	0.55583	0.626000	0.30322	-0.123000	0.14984	GCG		0.532	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
ZNF317	57693	hgsc.bcm.edu	37	19	9269565	9269565	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr19:9269565C>T	ENST00000247956.6	+	6	754	c.449C>T	c.(448-450)aCg>aTg	p.T150M	ZNF317_ENST00000360385.3_Missense_Mutation_p.T118M	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T150M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						GGGAAGGAAACGCCCAGTGGT	0.428																																					p.T118M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C353T	19						.						125.0	114.0	118.0					19																	9269565		2203	4300	6503	9130565	SO:0001583	missense	57693	exon5			AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.449C>T	19.37:g.9269565C>T	ENSP00000247956:p.Thr150Met		9130565	NM_001190791	Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	C	7.827	0.718997	0.15372	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.07444	3.42;3.19	3.15	3.15	0.36227	.	0.336367	0.21850	N	0.068184	T	0.07413	0.0187	L	0.38175	1.15	0.09310	N	1	P;P	0.51791	0.948;0.913	B;B	0.43809	0.432;0.249	T	0.27502	-1.0072	10	0.35671	T	0.21	-7.3202	7.7834	0.29078	0.2489:0.7511:0.0:0.0	.	118;150	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	M	150;118	ENSP00000247956:T150M;ENSP00000353554:T118M	ENSP00000247956:T150M	T	+	2	0	ZNF317	9130565	0.005000	0.15991	0.028000	0.17463	0.430000	0.31655	0.120000	0.15647	2.084000	0.62774	0.491000	0.48974	ACG		0.428	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933	
AQP10	89872	hgsc.bcm.edu	37	1	154295499	154295499	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr1:154295499G>A	ENST00000324978.3	+	3	314	c.274G>A	c.(274-276)Gtt>Att	p.V92I	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Missense_Mutation_p.V92I	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	92					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.V92I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATGTGCATCGTTGGACGCCT	0.517																																					p.V92I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G274A	1						.						141.0	131.0	135.0					1																	154295499		2203	4300	6503	152562123	SO:0001583	missense	89872	exon3			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.274G>A	1.37:g.154295499G>A	ENSP00000318355:p.Val92Ile		152562123	NM_080429	Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402536	0.42613	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	T;T	0.11169	2.8;2.8	5.04	-1.08	0.09936	Aquaporin-like (2);	0.269308	0.31071	N	0.008306	T	0.02012	0.0063	N	0.16201	0.385	0.24245	N	0.995346	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.46359	-0.9197	10	0.59425	D	0.04	.	11.5508	0.50719	0.1646:0.3519:0.4835:0.0	.	92;92	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	I	92	ENSP00000318355:V92I;ENSP00000420341:V92I	ENSP00000318355:V92I	V	+	1	0	AQP10	152562123	0.000000	0.05858	0.997000	0.53966	0.838000	0.47535	-1.569000	0.02142	0.191000	0.20236	-0.281000	0.10026	GTT		0.517	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429	
FCRL3	115352	hgsc.bcm.edu	37	1	157660158	157660158	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr1:157660158C>T	ENST00000368184.3	-	9	1868	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.G526E	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	526	Ig-like C2-type 6.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G526E(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGATGCCCCTCCTCCAGAGTG	0.542																																					p.G526E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1577A	1						.						92.0	91.0	91.0					1																	157660158		2203	4300	6503	155926782	SO:0001583	missense	115352	exon9			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1577G>A	1.37:g.157660158C>T	ENSP00000357167:p.Gly526Glu		155926782	NM_052939	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310664	0.40895	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.03212	4.01;4.01	4.47	4.47	0.54385	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	16.365600	0.01199	N	0.007521	T	0.12860	0.0312	M	0.87381	2.88	0.27468	N	0.95294	P;P;P	0.50943	0.94;0.844;0.926	P;P;P	0.62014	0.897;0.615;0.835	T	0.28490	-1.0042	10	0.49607	T	0.09	.	12.5274	0.56093	0.0:1.0:0.0:0.0	.	526;431;526	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	E	526	ENSP00000357169:G526E;ENSP00000357167:G526E	ENSP00000292392:G526E	G	-	2	0	FCRL3	155926782	0.102000	0.21896	1.000000	0.80357	0.330000	0.28571	2.012000	0.40932	2.323000	0.78572	0.655000	0.94253	GGA		0.542	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939	
TNR	7143	hgsc.bcm.edu	37	1	175299264	175299264	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr1:175299264C>T	ENST00000367674.2	-	21	4447	c.3739G>A	c.(3739-3741)Gag>Aag	p.E1247K	TNR_ENST00000263525.2_Missense_Mutation_p.E1247K|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1247	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.E1247K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CTGCTGTCCTCGACAGAGAAC	0.587																																					p.E1247K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3739A	1						.						85.0	71.0	76.0					1																	175299264		2203	4300	6503	173565887	SO:0001583	missense	7143	exon21			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3739G>A	1.37:g.175299264C>T	ENSP00000356646:p.Glu1247Lys		173565887	NM_003285	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024775	0.54683	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.21191	2.02;2.02	5.55	4.62	0.57501	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.114917	0.64402	D	0.000017	T	0.20251	0.0487	L	0.46157	1.445	0.38853	D	0.956318	P	0.42375	0.778	B	0.36378	0.223	T	0.05784	-1.0864	10	0.59425	D	0.04	.	15.3667	0.74529	0.1409:0.8591:0.0:0.0	.	1247	Q92752	TENR_HUMAN	K	1247;1247;1157	ENSP00000356646:E1247K;ENSP00000263525:E1247K	ENSP00000263525:E1247K	E	-	1	0	TNR	173565887	1.000000	0.71417	0.893000	0.35052	0.044000	0.14063	7.380000	0.79704	1.313000	0.45069	-0.181000	0.13052	GAG		0.587	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
MR1	3140	hgsc.bcm.edu	37	1	181021483	181021483	+	Silent	SNP	C	C	T	rs35223984	byFrequency	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr1:181021483C>T	ENST00000367580.5	+	4	722	c.717C>T	c.(715-717)aaC>aaT	p.N239N	MR1_ENST00000434571.2_Intron|MR1_ENST00000282990.6_Intron|MR1_ENST00000367579.3_Silent_p.N194N|MR1_ENST00000438435.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	239	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)	p.N239N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GGATGAAAAACGGGGAAGAAA	0.443													C|||	48	0.00958466	0.0	0.0216	5008	,	,		20538	0.0		0.0318	False		,,,				2504	0.001				p.N239N	Colon(174;1412 1962 45296 46549 47110)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C717T	1						.	C	,,,	45,4361	47.5+/-82.1	0,45,2158	63.0	65.0	64.0		582,,,717	-2.3	1.0	1	dbSNP_126	64	308,8292	111.0+/-171.3	5,298,3997	no	coding-synonymous,intron,intron,coding-synonymous	MR1	NM_001194999.1,NM_001195000.1,NM_001195035.1,NM_001531.2	,,,	5,343,6155	TT,TC,CC		3.5814,1.0213,2.7141	,,,	194/297,,,239/342	181021483	353,12653	2203	4300	6503	179288106	SO:0001819	synonymous_variant	3140	exon5			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.717C>T	1.37:g.181021483C>T			179288106	NM_001531	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Silent	SNP	ENST00000367580.5	37	CCDS1342.1																																																																																				0.443	MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531	
PIK3C2B	5287	hgsc.bcm.edu	37	1	204438005	204438005	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr1:204438005G>A	ENST00000367187.3	-	3	1482	c.926C>T	c.(925-927)gCa>gTa	p.A309V	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A309V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	309					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.A309V(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CACCGGGGCTGCAGAAATCCG	0.562																																					p.A309V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C926T	1						.						46.0	55.0	52.0					1																	204438005		2203	4300	6503	202704628	SO:0001583	missense	5287	exon3			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.926C>T	1.37:g.204438005G>A	ENSP00000356155:p.Ala309Val		202704628	NM_002646	O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614546	0.28712	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.61980	0.06;0.14	5.54	4.62	0.57501	.	0.280002	0.30093	N	0.010426	T	0.42154	0.1190	N	0.12182	0.205	0.47698	D	0.99949	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.27054	-1.0085	10	0.24483	T	0.36	.	12.6457	0.56733	0.0786:0.0:0.9214:0.0	.	309;309	F5GWN5;O00750	.;P3C2B_HUMAN	V	309	ENSP00000356155:A309V;ENSP00000400561:A309V	ENSP00000356155:A309V	A	-	2	0	PIK3C2B	202704628	0.982000	0.34865	0.781000	0.31783	0.383000	0.30230	3.077000	0.50089	2.598000	0.87819	0.462000	0.41574	GCA		0.562	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	
SLC2A5	6518	hgsc.bcm.edu	37	1	9098514	9098514	+	Missense_Mutation	SNP	C	C	T	rs371167568		TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr1:9098514C>T	ENST00000377424.4	-	10	1329	c.1150G>A	c.(1150-1152)Gtc>Atc	p.V384I	SLC2A5_ENST00000536305.1_Missense_Mutation_p.V325I|SLC2A5_ENST00000535586.1_Missense_Mutation_p.V269I	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	384					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)	p.V384I(1)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCTATGACGTAGGAGATG	0.582																																					p.V384I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1150A	1						.	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	123.0	111.0	115.0		1150	5.3	1.0	1		115	0,8600		0,0,4300	no	missense	SLC2A5	NM_003039.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	384/502	9098514	1,13005	2203	4300	6503	9021101	SO:0001583	missense	6518	exon10			BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.1150G>A	1.37:g.9098514C>T	ENSP00000366641:p.Val384Ile		9021101	NM_003039	Q14770|Q5T977|Q8IVB3	Missense_Mutation	SNP	ENST00000377424.4	37	CCDS99.1	.	.	.	.	.	.	.	.	.	.	C	1.856	-0.463932	0.04476	2.27E-4	0.0	ENSG00000142583	ENST00000377424;ENST00000456780;ENST00000536305;ENST00000535586	T;T;T	0.58940	0.3;0.3;0.3	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.059300	0.64402	D	0.000003	T	0.29716	0.0742	N	0.05230	-0.09	0.48696	D	0.999693	B;B;B	0.29232	0.094;0.16;0.238	B;B;B	0.23716	0.032;0.048;0.048	T	0.31336	-0.9947	10	0.02654	T	1	.	12.0865	0.53700	0.0:0.9163:0.0:0.0837	.	340;325;384	B4DG19;B4DU31;P22732	.;.;GTR5_HUMAN	I	384;367;325;269	ENSP00000366641:V384I;ENSP00000440688:V325I;ENSP00000442744:V269I	ENSP00000366641:V384I	V	-	1	0	SLC2A5	9021101	1.000000	0.71417	0.989000	0.46669	0.013000	0.08279	1.886000	0.39688	2.507000	0.84556	0.655000	0.94253	GTC		0.582	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039	
TINAGL1	64129	hgsc.bcm.edu	37	1	32050497	32050497	+	Silent	SNP	C	C	T			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr1:32050497C>T	ENST00000271064.7	+	7	793	c.717C>T	c.(715-717)tcC>tcT	p.S239S	TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000457433.2_Silent_p.S208S|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	239					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.S239S(1)		breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTGTGGCATCCGATCGTGTCT	0.637																																					p.S239S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C717T	1						.						76.0	70.0	72.0					1																	32050497		2203	4300	6503	31823084	SO:0001819	synonymous_variant	64129	exon7			AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.717C>T	1.37:g.32050497C>T			31823084	NM_022164	A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Silent	SNP	ENST00000271064.7	37	CCDS343.1																																																																																				0.637	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164	
ZYG11B	79699	hgsc.bcm.edu	37	1	53282204	53282204	+	Splice_Site	SNP	G	G	A			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr1:53282204G>A	ENST00000294353.6	+	13	2092	c.1947G>A	c.(1945-1947)agG>agA	p.R649R	ZYG11B_ENST00000545132.1_3'UTR|ZYG11B_ENST00000443756.2_Splice_Site_p.R579R	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	649								p.R649R(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GAACCTTTAGGTCCTTTAATC	0.368																																					p.R649R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1947A	1						.						157.0	153.0	154.0					1																	53282204		2203	4300	6503	53054792	SO:0001630	splice_region_variant	79699	exon13			AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1947-1G>A	1.37:g.53282204G>A			53054792	NM_024646	Q8N2X3|Q9H8L8	Silent	SNP	ENST00000294353.6	37	CCDS30717.1																																																																																				0.368	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646	Silent
ZZZ3	26009	hgsc.bcm.edu	37	1	78098029	78098029	+	Silent	SNP	G	G	A			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr1:78098029G>A	ENST00000370801.3	-	5	1486	c.1011C>T	c.(1009-1011)aaC>aaT	p.N337N	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	337					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.N337N(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TGTCCAGTTCGTTATTGGTGT	0.438																																					p.N337N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1011T	1						.						203.0	184.0	190.0					1																	78098029		2203	4300	6503	77870617	SO:0001819	synonymous_variant	26009	exon5			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1011C>T	1.37:g.78098029G>A			77870617	NM_015534	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Silent	SNP	ENST00000370801.3	37	CCDS677.1																																																																																				0.438	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534	
ZNF669	79862	hgsc.bcm.edu	37	1	247264178	247264178	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr1:247264178C>A	ENST00000343381.6	-	4	1065	c.893G>T	c.(892-894)cGa>cTa	p.R298L	ZNF669_ENST00000448299.2_Missense_Mutation_p.R212L|ZNF669_ENST00000366501.1_3'UTR|ZNF669_ENST00000358785.4_3'UTR	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R298L(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AGTGTGAGTTCGTTCATGTAT	0.388																																					p.R298L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G893T	1						.						70.0	71.0	71.0					1																	247264178		2203	4300	6503	245330801	SO:0001583	missense	79862	exon4				CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.893G>T	1.37:g.247264178C>A	ENSP00000342818:p.Arg298Leu		245330801	NM_024804	B3KP94|Q5VT39|Q9H9Q6	Missense_Mutation	SNP	ENST00000343381.6	37	CCDS31088.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220215	0.39201	.	.	ENSG00000188295	ENST00000535105;ENST00000448299;ENST00000343381	T;T	0.25085	1.82;1.82	0.177	0.177	0.15054	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27697	0.0681	L	0.31926	0.97	0.58432	D	0.999998	D;P	0.58620	0.983;0.808	P;B	0.61132	0.884;0.181	T	0.23368	-1.0190	9	0.87932	D	0	.	2.6908	0.05120	0.0:0.5542:0.0:0.4458	.	212;298	B3KP94;Q96BR6	.;ZN669_HUMAN	L	212;212;298	ENSP00000404370:R212L;ENSP00000342818:R298L	ENSP00000342818:R298L	R	-	2	0	ZNF669	245330801	0.000000	0.05858	0.832000	0.32986	0.664000	0.39144	-0.089000	0.11180	0.284000	0.22305	0.289000	0.19496	CGA		0.388	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000098394.4	NM_024804	
ZNF202	7753	hgsc.bcm.edu	37	11	123601370	123601370	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr11:123601370C>A	ENST00000529691.1	-	2	446	c.227G>T	c.(226-228)aGa>aTa	p.R76I	ZNF202_ENST00000336139.4_Missense_Mutation_p.R76I|ZNF202_ENST00000530393.1_Missense_Mutation_p.R76I			O95125	ZN202_HUMAN	zinc finger protein 202	76	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R76I(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCTCTCTGGTCTCAGCCACTG	0.557																																					p.R76I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G227T	11						.						97.0	95.0	96.0					11																	123601370		2202	4299	6501	123106580	SO:0001583	missense	7753	exon4			AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.227G>T	11.37:g.123601370C>A	ENSP00000433881:p.Arg76Ile		123106580	NM_003455	B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	37	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244739	0.79912	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	4.57	4.57	0.56435	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.51477	D	0.000082	T	0.36054	0.0953	H	0.96398	3.815	0.53688	D	0.999972	D	0.71674	0.998	D	0.68483	0.958	T	0.55159	-0.8184	10	0.87932	D	0	-17.5909	14.9073	0.70730	0.0:1.0:0.0:0.0	.	76	O95125	ZN202_HUMAN	I	76	ENSP00000337724:R76I;ENSP00000432504:R76I;ENSP00000433881:R76I;ENSP00000431223:R76I	ENSP00000337724:R76I	R	-	2	0	ZNF202	123106580	0.917000	0.31117	1.000000	0.80357	0.973000	0.67179	1.133000	0.31430	2.369000	0.80426	0.455000	0.32223	AGA		0.557	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455	
BRPF3	27154	hgsc.bcm.edu	37	6	36185745	36185745	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr6:36185745G>A	ENST00000357641.6	+	9	3294	c.3041G>A	c.(3040-3042)tGt>tAt	p.C1014Y	BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000339717.7_Missense_Mutation_p.C744Y|BRPF3_ENST00000534400.1_Missense_Mutation_p.C1014Y|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Missense_Mutation_p.C744Y	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1014					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.C1014Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GACTCTGAATGTAGTTTGGGT	0.512																																					p.C1014Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3041A	6						.						184.0	148.0	160.0					6																	36185745		2203	4300	6503	36293723	SO:0001583	missense	27154	exon9			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.3041G>A	6.37:g.36185745G>A	ENSP00000350267:p.Cys1014Tyr		36293723	NM_015695	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266296	0.40095	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000543502;ENST00000534400	T;T;T;T	0.16743	2.5;2.39;2.39;2.32	6.05	6.05	0.98169	.	0.160708	0.56097	D	0.000029	T	0.14227	0.0344	L	0.48642	1.525	0.80722	D	1	P;B	0.41188	0.741;0.033	P;B	0.48304	0.573;0.025	T	0.00780	-1.1569	10	0.48119	T	0.1	.	10.6956	0.45896	0.0714:0.1344:0.7942:0.0	.	744;1014	Q17RB6;Q9ULD4	.;BRPF3_HUMAN	Y	1014;744;744;1014	ENSP00000350267:C1014Y;ENSP00000345419:C744Y;ENSP00000445352:C744Y;ENSP00000436504:C1014Y	ENSP00000345419:C744Y	C	+	2	0	BRPF3	36293723	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.265000	0.51561	2.878000	0.98634	0.650000	0.86243	TGT		0.512	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695	
NFE2L1	4779	hgsc.bcm.edu	37	17	46136901	46136901	+	Silent	SNP	G	G	C			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr17:46136901G>C	ENST00000362042.3	+	6	2833	c.2217G>C	c.(2215-2217)gcG>gcC	p.A739A	NFE2L1_ENST00000582155.1_Silent_p.A551A|NFE2L1_ENST00000585291.1_Silent_p.A709A|NFE2L1_ENST00000583378.1_Silent_p.A540A|NFE2L1_ENST00000361665.3_Silent_p.A728A|NFE2L1_ENST00000536222.1_Silent_p.A583A|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000357480.5_Silent_p.A709A	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	739					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.A739A(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCAGTATGCGCTCCAGTACG	0.642																																					p.A739A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2217C	17						.						67.0	71.0	70.0					17																	46136901		2203	4300	6503	43491900	SO:0001819	synonymous_variant	4779	exon6			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.2217G>C	17.37:g.46136901G>C			43491900	NM_003204	D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	ENST00000362042.3	37	CCDS11524.1																																																																																				0.642	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204	
TP53	7157	hgsc.bcm.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				p.R273H	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,central_nervous_system,brain,Substitution - Missense,-1	.	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	c.G818A	17	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	.						67.0	58.0	61.0					17																	7577120		2203	4300	6503	7517845	SO:0001583	missense	7157	exon8	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		7517845	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
STRADA	92335	hgsc.bcm.edu	37	17	61790884	61790884	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr17:61790884T>C	ENST00000336174.6	-	6	342	c.230A>G	c.(229-231)aAa>aGa	p.K77R	STRADA_ENST00000392950.4_Missense_Mutation_p.K40R|STRADA_ENST00000582137.1_Missense_Mutation_p.K48R|STRADA_ENST00000375840.4_Missense_Mutation_p.K19R|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000245865.5_Missense_Mutation_p.K19R|RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000447001.3_Missense_Mutation_p.K33R|STRADA_ENST00000579340.1_Missense_Mutation_p.K19R	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	77	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.K77R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						CTCAAATCCTTTGCCTAAAAG	0.383																																					p.K48R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A143G	17						.						178.0	162.0	167.0					17																	61790884		2203	4300	6503	59144616	SO:0001583	missense	92335	exon4			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.230A>G	17.37:g.61790884T>C	ENSP00000336655:p.Lys77Arg		59144616	NM_001165969	B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	ENST00000336174.6	37	CCDS32703.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.955892	0.34471	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.65364	-0.15;-0.15;0.38;-0.15	4.99	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.216568	0.48286	D	0.000192	T	0.29458	0.0734	N	0.02736	-0.51	0.30359	N	0.784	B;B;B;B;B;B;B	0.10296	0.0;0.001;0.002;0.0;0.003;0.002;0.002	B;B;B;B;B;B;B	0.15870	0.002;0.001;0.003;0.001;0.004;0.004;0.014	T	0.31998	-0.9923	10	0.02654	T	1	.	7.1108	0.25388	0.0:0.1703:0.0:0.8297	.	48;33;19;19;40;40;77	B4DW17;B4DDE3;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;.;STRAA_HUMAN	R	77;19;33;40;39	ENSP00000336655:K77R;ENSP00000365000:K19R;ENSP00000398841:K33R;ENSP00000376677:K40R	ENSP00000245865:K39R	K	-	2	0	STRADA	59144616	0.980000	0.34600	1.000000	0.80357	0.956000	0.61745	1.548000	0.36201	2.100000	0.63781	0.402000	0.26972	AAA		0.383	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443894.1		
RBFOX1	54715	hgsc.bcm.edu	37	16	7629798	7629798	+	Missense_Mutation	SNP	C	C	T	rs139251660		TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr16:7629798C>T	ENST00000550418.1	+	6	1278	c.290C>T	c.(289-291)cCg>cTg	p.P97L	RBFOX1_ENST00000422070.4_Missense_Mutation_p.P140L|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P117L|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P97L|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P140L|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P97L|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P132L|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P117L|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P117L|RBFOX1_ENST00000340209.4_Missense_Mutation_p.P102L	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	97					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.P117L(3)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GACGCAGCACCGACGGATGGC	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16859	0.0		0.0	False		,,,				2504	0.0				p.P117L	Ovarian(157;934 2567 15163 39509)											.	.	3	Substitution - Missense(3)	large_intestine(2)|upper_aerodigestive_tract(1)	c.C350T	16						.	C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4394		0,0,2197	130.0	122.0	125.0		290,290,290,350,350,350	4.4	0.3	16	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	RBFOX1	NM_001142333.1,NM_001142334.1,NM_018723.3,NM_145891.2,NM_145892.2,NM_145893.2	98,98,98,98,98,98	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign,benign	97/371,97/398,97/398,117/419,117/393,117/396	7629798	1,12993	2197	4300	6497	7569799	SO:0001583	missense	54715	exon3			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.290C>T	16.37:g.7629798C>T	ENSP00000450031:p.Pro97Leu		7569799	NM_145893	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611826	0.46631	0.0	1.16E-4	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.39	4.38	0.52667	Nucleotide-binding, alpha-beta plait (1);	0.061394	0.64402	D	0.000002	T	0.13586	0.0329	N	0.08118	0	0.58432	D	0.999996	B;P;B;B;P;B;B;B	0.51791	0.122;0.875;0.233;0.011;0.948;0.077;0.012;0.101	B;B;B;B;B;B;B;B	0.31016	0.02;0.08;0.072;0.017;0.123;0.063;0.011;0.059	T	0.05733	-1.0867	10	0.27082	T	0.32	-8.8349	10.8708	0.46883	0.4221:0.5779:0.0:0.0	.	117;140;117;117;117;97;97;140	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	L	96;97;97;140;140;132;97;97;117;117;117;117;102	ENSP00000450402:P96L;ENSP00000450031:P97L;ENSP00000447753:P97L;ENSP00000446842:P140L;ENSP00000391269:P140L;ENSP00000448496:P132L;ENSP00000447281:P97L;ENSP00000447717:P97L;ENSP00000402745:P117L;ENSP00000309117:P117L;ENSP00000347855:P117L;ENSP00000344196:P102L	ENSP00000309117:P117L	P	+	2	0	RBFOX1	7569799	1.000000	0.71417	0.326000	0.25389	0.621000	0.37620	5.232000	0.65332	2.537000	0.85549	0.655000	0.94253	CCG		0.522	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	
PTPRM	5797	hgsc.bcm.edu	37	18	8384678	8384678	+	Silent	SNP	C	C	T	rs201674995		TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr18:8384678C>T	ENST00000332175.8	+	28	5036	c.3999C>T	c.(3997-3999)gcC>gcT	p.A1333A	PTPRM_ENST00000400053.4_Silent_p.A1271A|PTPRM_ENST00000444013.1_Silent_p.A1120A|PTPRM_ENST00000400060.4_Silent_p.A1347A|PTPRM_ENST00000580170.1_Silent_p.A1346A	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1333	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A1333A(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTTACAATGCCGCCAGAGTAA	0.473																																					p.A1333A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3999T	18						.						129.0	114.0	119.0					18																	8384678		2203	4300	6503	8374678	SO:0001819	synonymous_variant	5797	exon28			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3999C>T	18.37:g.8384678C>T			8374678	NM_002845	A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	CCDS11840.1																																																																																				0.473	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		
SCN10A	6336	hgsc.bcm.edu	37	3	38770142	38770142	+	Missense_Mutation	SNP	C	C	T	rs562091549		TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr3:38770142C>T	ENST00000449082.2	-	15	2530	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	844					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R844H(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACAGAGGATACGGAAGACAAT	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		20265	0.0		0.0	False		,,,				2504	0.001				p.R844H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2531A	3						.						103.0	97.0	99.0					3																	38770142		2203	4300	6503	38745146	SO:0001583	missense	6336	exon15			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.2531G>A	3.37:g.38770142C>T	ENSP00000390600:p.Arg844His		38745146	NM_006514	A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171195	0.94807	.	.	ENSG00000185313	ENST00000449082	D	0.97480	-4.4	5.05	5.05	0.67936	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	H	0.98295	4.195	0.58432	D	0.999999	D	0.76494	0.999	D	0.72075	0.976	D	0.98894	1.0774	10	0.87932	D	0	.	18.5967	0.91231	0.0:1.0:0.0:0.0	.	844	Q9Y5Y9	SCNAA_HUMAN	H	844	ENSP00000390600:R844H	ENSP00000390600:R844H	R	-	2	0	SCN10A	38745146	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.606000	0.82863	2.625000	0.88918	0.655000	0.94253	CGT		0.502	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
KRAS	3845	hgsc.bcm.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12R	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,+1	.	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	c.G34C	12	GRCh37	CM076251	KRAS	M	rs121913530	.						93.0	83.0	86.0					12																	25398285		2203	4300	6503	25289552	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg		25289552	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
PGBD4	161779	hgsc.bcm.edu	37	15	34394905	34394905	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr15:34394905A>T	ENST00000397766.2	+	1	632	c.173A>T	c.(172-174)gAa>gTa	p.E58V	EMC7_ENST00000256545.4_5'Flank|EMC7_ENST00000532113.1_5'Flank	NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	58								p.E58V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TCCCATTTAGAATCTGATGGA	0.418																																					p.E58V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A173T	15						.						76.0	74.0	74.0					15																	34394905		2201	4298	6499	32182197	SO:0001583	missense	161779	exon1			AK057200	CCDS10033.1	15q13.1	2002-10-25			ENSG00000182405	ENSG00000182405			19401	protein-coding gene	gene with protein product							Standard	NM_152595		Approved	FLJ32638, FLJ37497	uc001zho.3	Q96DM1	OTTHUMG00000129370	ENST00000397766.2:c.173A>T	15.37:g.34394905A>T	ENSP00000380872:p.Glu58Val		32182197	NM_152595	A1L487|A8K0C6|Q8N9E8	Missense_Mutation	SNP	ENST00000397766.2	37	CCDS10033.1	.	.	.	.	.	.	.	.	.	.	a	14.79	2.640921	0.47153	.	.	ENSG00000182405	ENST00000397766	T	0.19669	2.13	0.774	-0.512	0.11966	.	6.800510	0.02583	U	0.099046	T	0.11665	0.0284	N	0.08118	0	0.09310	N	1	P	0.47604	0.898	B	0.42959	0.403	T	0.05273	-1.0895	10	0.46703	T	0.11	.	2.8144	0.05452	0.6304:0.0:0.3696:0.0	.	58	Q96DM1	PGBD4_HUMAN	V	58	ENSP00000380872:E58V	ENSP00000380872:E58V	E	+	2	0	PGBD4	32182197	0.662000	0.27439	0.004000	0.12327	0.671000	0.39405	0.540000	0.23191	-0.194000	0.10399	0.248000	0.18094	GAA		0.418	PGBD4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251522.1		
RASGRF1	5923	hgsc.bcm.edu	37	15	79254560	79254560	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr15:79254560C>T	ENST00000419573.3	-	28	4022	c.3748G>A	c.(3748-3750)Gac>Aac	p.D1250N	RASGRF1_ENST00000558480.2_Missense_Mutation_p.D1234N|RASGRF1_ENST00000394745.3_Missense_Mutation_p.D466N	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1250	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1250N(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAAGATTGGTCCAGTAAATAT	0.468																																					p.D1250N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3748A	15						.						65.0	62.0	63.0					15																	79254560		2196	4292	6488	77041615	SO:0001583	missense	5923	exon28			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3748G>A	15.37:g.79254560C>T	ENSP00000405963:p.Asp1250Asn		77041615	NM_002891	F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.616864	0.66672	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.27256	1.68;1.68	3.96	3.96	0.45880	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.065229	0.64402	D	0.000015	T	0.17662	0.0424	L	0.31476	0.935	0.58432	D	0.999999	B;B	0.23377	0.01;0.084	B;B	0.29716	0.021;0.106	T	0.02991	-1.1085	10	0.07325	T	0.83	.	11.8773	0.52554	0.0:1.0:0.0:0.0	.	1252;1234	Q13972;F8VPA5	RGRF1_HUMAN;.	N	1250;1234;466	ENSP00000405963:D1250N;ENSP00000378228:D466N	ENSP00000378224:D1234N	D	-	1	0	RASGRF1	77041615	1.000000	0.71417	0.834000	0.33040	0.980000	0.70556	6.696000	0.74598	1.895000	0.54865	0.491000	0.48974	GAC		0.468	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
IL16	3603	hgsc.bcm.edu	37	15	81591953	81591953	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr15:81591953C>A	ENST00000302987.4	+	13	2286	c.2286C>A	c.(2284-2286)gaC>gaA	p.D762E	IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394660.2_Missense_Mutation_p.D762E|IL16_ENST00000394652.2_Missense_Mutation_p.D61E			Q14005	IL16_HUMAN	interleukin 16	762					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D716E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAAAGCTGGACACCGCCAATG	0.562																																					p.D762E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2286A	15						.						78.0	81.0	80.0					15																	81591953		2203	4300	6503	79379008	SO:0001583	missense	3603	exon14			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2286C>A	15.37:g.81591953C>A	ENSP00000302935:p.Asp762Glu		79379008	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.611506	0.00835	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.12465	2.68;2.68;3.38	4.78	-9.56	0.00566	.	0.275571	0.25668	N	0.029082	T	0.06096	0.0158	L	0.37630	1.12	0.09310	N	1	B;B;B;B;B;B	0.10296	0.001;0.0;0.0;0.003;0.0;0.0	B;B;B;B;B;B	0.09377	0.002;0.001;0.001;0.004;0.001;0.002	T	0.25152	-1.0140	10	0.17832	T	0.49	.	6.8815	0.24177	0.121:0.1318:0.0848:0.6624	.	594;256;299;152;762;762	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	E	762;594;762;299;152;61;61	ENSP00000378155:D762E;ENSP00000302935:D762E;ENSP00000378147:D61E	ENSP00000302935:D762E	D	+	3	2	IL16	79379008	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.457000	0.00231	-1.653000	0.01500	-1.693000	0.00726	GAC		0.562	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
SLC28A1	9154	hgsc.bcm.edu	37	15	85438332	85438332	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr15:85438332C>T	ENST00000286749.3	+	5	529	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	SLC28A1_ENST00000537624.1_Missense_Mutation_p.R147C|SLC28A1_ENST00000538177.1_Missense_Mutation_p.R147C|SLC28A1_ENST00000537216.1_Missense_Mutation_p.R147C|SLC28A1_ENST00000394573.1_Missense_Mutation_p.R147C|SLC28A1_ENST00000537703.1_Missense_Mutation_p.R69C|SLC28A1_ENST00000338602.2_Missense_Mutation_p.R147C			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	147					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)	p.R147C(3)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	GGGCCATCCCCGCCTGCTGCT	0.637																																					p.R147C												.	.	3	Substitution - Missense(3)	breast(2)|large_intestine(1)	c.C439T	15						.						42.0	45.0	44.0					15																	85438332		2203	4299	6502	83239336	SO:0001583	missense	9154	exon6			U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.439C>T	15.37:g.85438332C>T	ENSP00000286749:p.Arg147Cys		83239336	NM_201651	A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	2.400	-0.337884	0.05278	.	.	ENSG00000156222	ENST00000338602;ENST00000537216;ENST00000538177;ENST00000537624;ENST00000286749;ENST00000394573;ENST00000537703	D;D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	4.58	-3.9	0.04181	.	0.810801	0.11412	N	0.566688	T	0.52837	0.1759	N	0.13168	0.305	0.09310	N	1	B;B;B;B;B;B	0.32731	0.007;0.012;0.035;0.007;0.004;0.382	B;B;B;B;B;B	0.26614	0.005;0.014;0.009;0.002;0.005;0.071	T	0.45527	-0.9255	10	0.34782	T	0.22	-29.652	0.3639	0.00368	0.2738:0.2358:0.1345:0.3558	.	147;147;147;69;147;147	B7Z533;F5H560;B7Z3L6;B7Z3M4;O00337;O00337-2	.;.;.;.;S28A1_HUMAN;.	C	147;147;147;147;147;147;69	ENSP00000341629:R147C;ENSP00000440546:R147C;ENSP00000443752:R147C;ENSP00000444700:R147C;ENSP00000286749:R147C;ENSP00000378074:R147C;ENSP00000443764:R69C	ENSP00000286749:R147C	R	+	1	0	SLC28A1	83239336	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.301000	0.08232	-0.510000	0.06523	-0.169000	0.13324	CGC		0.637	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2		
IDH2	3418	hgsc.bcm.edu	37	15	90631837	90631837	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr15:90631837C>G	ENST00000330062.3	-	4	629	c.516G>C	c.(514-516)agG>agC	p.R172S	IDH2_ENST00000540499.2_Missense_Mutation_p.R120S|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42S	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)	p.R172S(17)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CATGGGCGTGCCTGCCAATGG	0.637			M		GBM																																p.R172S			Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	IDH2,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,-1	.	18	Substitution - Missense(18)	bone(11)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|biliary_tract(1)|large_intestine(1)	c.G516C	15						.						85.0	80.0	82.0					15																	90631837		2200	4298	6498	88432841	SO:0001583	missense	3418	exon4				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.516G>C	15.37:g.90631837C>G	ENSP00000331897:p.Arg172Ser		88432841	NM_002168	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	ENST00000330062.3	37	CCDS10359.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005845	0.35415	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86865	-2.18;-2.18;-2.18	5.93	-3.19	0.05171	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	H	0.98487	4.245	0.53005	D	0.999962	D	0.89917	1.0	D	0.91635	0.999	D	0.89382	0.3682	10	0.87932	D	0	.	5.0108	0.14312	0.237:0.2848:0.0:0.4782	.	172	P48735	IDHP_HUMAN	S	172;42;120	ENSP00000331897:R172S;ENSP00000438457:R42S;ENSP00000446147:R120S	ENSP00000331897:R172S	R	-	3	2	IDH2	88432841	0.145000	0.22656	0.004000	0.12327	0.001000	0.01503	-0.449000	0.06812	-0.649000	0.05430	-1.288000	0.01363	AGG		0.637	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1		
ELF2	1998	hgsc.bcm.edu	37	4	139983021	139983021	+	Silent	SNP	C	C	T			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr4:139983021C>T	ENST00000394235.2	-	8	1270	c.768G>A	c.(766-768)ttG>ttA	p.L256L	ELF2_ENST00000510408.1_Silent_p.L196L|ELF2_ENST00000515489.1_5'Flank|ELF2_ENST00000358635.3_Silent_p.L208L|ELF2_ENST00000379550.1_Silent_p.L268L|ELF2_ENST00000379549.2_Silent_p.L179L|ELF2_ENST00000265495.4_Silent_p.L256L	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)									p.L256L(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GTTTTTACCTCAAAGCTCGTC	0.348																																					p.L208L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G624A	4						.						88.0	79.0	82.0					4																	139983021		2203	4300	6503	140202471	SO:0001819	synonymous_variant	1998	exon5			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.768G>A	4.37:g.139983021C>T			140202471	NM_006874		Silent	SNP	ENST00000394235.2	37	CCDS3744.1																																																																																				0.348	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874	
P2RY10	27334	hgsc.bcm.edu	37	X	78216599	78216599	+	Silent	SNP	G	G	A			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chrX:78216599G>A	ENST00000171757.2	+	4	862	c.582G>A	c.(580-582)gcG>gcA	p.A194A	P2RY10_ENST00000544091.1_Silent_p.A194A	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.A194A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						ATGCAGTTGCGTTGGTCGGGA	0.458																																					p.A194A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G582A	X						.						162.0	119.0	134.0					X																	78216599		2203	4300	6503	78103255	SO:0001819	synonymous_variant	27334	exon2			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.582G>A	X.37:g.78216599G>A			78103255	NM_198333	D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	CCDS14442.1																																																																																				0.458	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1		
APOB	338	hgsc.bcm.edu	37	2	21228171	21228171	+	Missense_Mutation	SNP	C	C	T	rs145655926		TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr2:21228171C>T	ENST00000233242.1	-	26	11696	c.11569G>A	c.(11569-11571)Gtg>Atg	p.V3857M		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3857					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.V3857M(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTCAGGCACGATGATGGTG	0.468																																					p.V3857M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G11569A	2						.	C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	151.0	133.0	139.0		11569	-11.5	0.0	2	dbSNP_134	139	2,8598	2.2+/-6.3	0,2,4298	yes	missense	APOB	NM_000384.2	21	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	3857/4564	21228171	3,13003	2203	4300	6503	21081676	SO:0001583	missense	338	exon26			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11569G>A	2.37:g.21228171C>T	ENSP00000233242:p.Val3857Met		21081676	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	8.232	0.804779	0.16467	2.27E-4	2.33E-4	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00700	5.82	5.73	-11.5	0.00074	.	1.248630	0.05627	N	0.581032	T	0.00468	0.0015	N	0.08118	0	0.36813	D	0.886011	B	0.22080	0.064	B	0.14578	0.011	T	0.48080	-0.9066	10	0.26408	T	0.33	.	10.0931	0.42458	0.0:0.4432:0.1816:0.3751	.	3857	P04114	APOB_HUMAN	M	3857	ENSP00000233242:V3857M	ENSP00000233242:V3857M	V	-	1	0	APOB	21081676	0.053000	0.20554	0.000000	0.03702	0.930000	0.56654	0.263000	0.18478	-2.784000	0.00359	-0.960000	0.02634	GTG		0.468	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
GPR75	10936	hgsc.bcm.edu	37	2	54081477	54081477	+	Silent	SNP	G	G	A	rs373395317		TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr2:54081477G>A	ENST00000394705.2	-	2	687	c.417C>T	c.(415-417)atC>atT	p.I139I	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	139					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)	p.I139I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTGCAGGGCGATCACTGCCA	0.557																																					p.I139I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C417T	2						.	G	,	0,4406		0,0,2203	98.0	93.0	95.0		,417	-5.7	0.9	2		95	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	GPR75,GPR75-ASB3	NM_001164165.1,NM_006794.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	,139/541	54081477	1,13005	2203	4300	6503	53934981	SO:0001819	synonymous_variant	10936	exon2			AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.417C>T	2.37:g.54081477G>A			53934981	NM_006794	B2RC02|Q6NWR2	Silent	SNP	ENST00000394705.2	37	CCDS1849.1																																																																																				0.557	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2		
SCN3A	6328	hgsc.bcm.edu	37	2	165994555	165994555	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr2:165994555C>A	ENST00000360093.3	-	15	2716	c.2225G>T	c.(2224-2226)tGc>tTc	p.C742F	SCN3A_ENST00000409101.3_Missense_Mutation_p.C693F|SCN3A_ENST00000283254.7_Missense_Mutation_p.C742F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	742					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.C742F(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCATCACAGCAGTCCCAGAT	0.383																																					p.C742F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2225T	2						.						116.0	111.0	113.0					2																	165994555		2203	4300	6503	165702801	SO:0001583	missense	6328	exon15			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2225G>T	2.37:g.165994555C>A	ENSP00000353206:p.Cys742Phe		165702801	NM_006922	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	C	29.6	5.015845	0.93404	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.97731	-4.51;-4.51;-4.28;-4.13	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000002	D	0.99275	0.9747	H	0.96777	3.88	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.995;0.997;0.997;0.998	D;D;D;D;D	0.80764	0.99;0.986;0.994;0.994;0.972	D	0.98786	1.0734	10	0.87932	D	0	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	742;693;693;693;742	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	F	742;742;693;693	ENSP00000353206:C742F;ENSP00000283254:C742F;ENSP00000386726:C693F;ENSP00000403348:C693F	ENSP00000283254:C742F	C	-	2	0	SCN3A	165702801	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.742000	0.85008	2.880000	0.98712	0.650000	0.86243	TGC		0.383	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
PALM2	114299	hgsc.bcm.edu	37	9	112705363	112705363	+	Silent	SNP	C	C	T			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr9:112705363C>T	ENST00000374531.2	+	7	872	c.798C>T	c.(796-798)agC>agT	p.S266S	PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000510514.5_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000483909.1_Silent_p.S264S|PALM2_ENST00000448454.2_Silent_p.S300S|PALM2_ENST00000314527.4_Silent_p.S298S	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	266					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)		p.S266S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AAGCCCCCAGCGCTGCAGGGC	0.512																																					p.S266S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C798T	9						.						65.0	69.0	67.0					9																	112705363		2203	4300	6503	111745184	SO:0001819	synonymous_variant	114299	exon7			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.798C>T	9.37:g.112705363C>T			111745184	NM_001037293	A9Z1X9|Q8N9D5|Q96DU1	Silent	SNP	ENST00000374531.2	37	CCDS35099.1																																																																																				0.512	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293	
TNC	3371	hgsc.bcm.edu	37	9	117819519	117819519	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr9:117819519G>T	ENST00000350763.4	-	15	4903	c.4492C>A	c.(4492-4494)Cta>Ata	p.L1498I	TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.L1134I|TNC_ENST00000423613.2_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Missense_Mutation_p.L1134I|TNC_ENST00000537320.1_Intron|TNC_ENST00000481475.1_5'Flank|TNC_ENST00000341037.4_Missense_Mutation_p.L1407I|TNC_ENST00000535648.1_Missense_Mutation_p.L1134I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1498	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.L1498I(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTAGGGGGTAGCCCTGAGATA	0.463																																					p.L1498I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4492A	9						.						127.0	123.0	124.0					9																	117819519		2203	4300	6503	116859340	SO:0001583	missense	3371	exon15				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4492C>A	9.37:g.117819519G>T	ENSP00000265131:p.Leu1498Ile		116859340	NM_002160	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.329806|4.329806	0.81690|0.81690	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000340094;ENST00000535648;ENST00000350763;ENST00000341037;ENST00000542877	.|T;T;T;T;T	.|0.38077	.|1.16;1.16;1.16;1.16;1.16	5.95|5.95	5.05|5.05	0.67936|0.67936	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60431|0.60431	0.2268|0.2268	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	.|P	.|0.52692	.|0.955	.|P	.|0.56127	.|0.792	T|T	0.69363|0.69363	-0.5165|-0.5165	5|10	.|0.87932	.|D	.|0	.|.	12.4248|12.4248	0.55540|0.55540	0.1364:0.0:0.8636:0.0|0.1364:0.0:0.8636:0.0	.|.	.|1498	.|P24821	.|TENA_HUMAN	D|I	151|1134;1134;1498;1407;1134	.|ENSP00000344400:L1134I;ENSP00000438152:L1134I;ENSP00000265131:L1498I;ENSP00000339553:L1407I;ENSP00000442242:L1134I	.|ENSP00000344400:L1134I	A|L	-|-	2|1	0|2	TNC|TNC	116859340|116859340	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.996000|0.996000	0.88848|0.88848	6.028000|6.028000	0.70889|0.70889	1.499000|1.499000	0.48617|0.48617	0.563000|0.563000	0.77884|0.77884	GCT|CTA		0.463	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
CTSV	1515	hgsc.bcm.edu	37	9	99795261	99795261	+	Silent	SNP	G	G	A			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr9:99795261G>A	ENST00000259470.5	-	8	1224	c.975C>T	c.(973-975)atC>atT	p.I325I	CTSV_ENST00000538255.1_Silent_p.I325I	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	325					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)	p.I325I(2)									CTGCTGTGGCGATTCCACAGT	0.473																																					p.I325I												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.C975T	9						.						142.0	118.0	126.0					9																	99795261		2203	4300	6503	98835082	SO:0001819	synonymous_variant	1515	exon8			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.975C>T	9.37:g.99795261G>A			98835082	NM_001333	O60233|Q2TB86|Q5T1U0	Silent	SNP	ENST00000259470.5	37	CCDS6723.1																																																																																				0.473	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053301.2	NM_001333	
SETX	23064	hgsc.bcm.edu	37	9	135204030	135204030	+	Silent	SNP	C	C	T	rs201251074		TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr9:135204030C>T	ENST00000224140.5	-	10	3137	c.2955G>A	c.(2953-2955)tcG>tcA	p.S985S	SETX_ENST00000372169.2_Silent_p.S985S|SETX_ENST00000393220.1_Silent_p.S985S	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	985					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.S985S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTGCAGCTGCGATGAGTTCT	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		21650	0.0		0.001	False		,,,				2504	0.0				p.S985S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2955A	9						.	C		1,4405	2.1+/-5.4	0,1,2202	131.0	130.0	130.0		2955	-0.7	0.0	9		130	0,8600		0,0,4300	no	coding-synonymous	SETX	NM_015046.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		985/2678	135204030	1,13005	2203	4300	6503	134193851	SO:0001819	synonymous_variant	23064	exon10			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.2955G>A	9.37:g.135204030C>T			134193851	NM_015046	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	CCDS6947.1																																																																																				0.388	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
ZC3H13	23091	hgsc.bcm.edu	37	13	46549497	46549497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr13:46549497G>A	ENST00000242848.4	-	12	2737	c.2389C>T	c.(2389-2391)Cga>Tga	p.R797*	ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R797*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	797	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R797*(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CGGTCATCTCGTCCTTTGTCT	0.443																																					p.R797X	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2389T	13						.						443.0	376.0	399.0					13																	46549497		2203	4300	6503	45447498	SO:0001587	stop_gained	23091	exon12			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2389C>T	13.37:g.46549497G>A	ENSP00000242848:p.Arg797*		45447498	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	G	42	9.493623	0.99186	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	.	.	.	5.38	4.44	0.53790	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6821	0.45821	0.0:0.0:0.5898:0.4102	.	.	.	.	X	797	.	ENSP00000242848:R797X	R	-	1	2	ZC3H13	45447498	1.000000	0.71417	0.994000	0.49952	0.969000	0.65631	4.166000	0.58203	2.526000	0.85167	0.313000	0.20887	CGA		0.443	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
APC	324	hgsc.bcm.edu	37	5	112174096	112174096	+	Nonsense_Mutation	SNP	C	C	A	rs137854575|rs398123120	byFrequency	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr5:112174096C>A	ENST00000457016.1	+	16	3185	c.2805C>A	c.(2803-2805)taC>taA	p.Y935*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.Y935*|APC_ENST00000508376.2_Nonsense_Mutation_p.Y935*			P25054	APC_HUMAN	adenomatous polyposis coli	935	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.Y935*(5)|p.Y935fs*1(2)|p.N936fs*1(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAAACACTTACAATTTCACTA	0.358		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.Y917X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,colon,Substitution - Nonsense,0	.	9	Substitution - Nonsense(5)|Insertion - Frameshift(3)|Unknown(1)	large_intestine(8)|skin(1)	c.C2751A	5	GRCh37	CD041148|CI994312|CM920044|CM970086	APC	D|I|M	rs137854575	.						68.0	70.0	69.0					5																	112174096		2202	4300	6502	112201995	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2805C>A	5.37:g.112174096C>A	ENSP00000413133:p.Tyr935*		112201995	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	36	5.776291	0.96922	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.77	4.9	0.64082	.	0.249510	0.35772	N	0.002998	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6869	13.1773	0.59635	0.0:0.9222:0.0:0.0778	.	.	.	.	X	935;917;935;935;935	.	ENSP00000257430:Y935X	Y	+	3	2	APC	112201995	1.000000	0.71417	0.997000	0.53966	0.760000	0.43138	1.364000	0.34171	2.729000	0.93468	0.557000	0.71058	TAC		0.358	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
MCC	4163	hgsc.bcm.edu	37	5	112458414	112458414	+	Missense_Mutation	SNP	C	C	T	rs185322500	byFrequency	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr5:112458414C>T	ENST00000302475.4	-	4	987	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	MCC_ENST00000408903.3_Missense_Mutation_p.E332K|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Missense_Mutation_p.E79K	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	142					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E142K(2)|p.E332K(2)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GACTGGTTTTCGGGGATAGAG	0.493													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17241	0.0		0.001	False		,,,				2504	0.0				p.E332K												.	.	4	Substitution - Missense(4)	large_intestine(2)|endometrium(2)	c.G994A	5						.	C	LYS/GLU,LYS/GLU	0,4404		0,0,2202	153.0	126.0	135.0		994,424	4.7	1.0	5		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MCC	NM_001085377.1,NM_002387.2	56,56	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	332/1020,142/830	112458414	1,13003	2202	4300	6502	112486313	SO:0001583	missense	4163	exon6				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.424G>A	5.37:g.112458414C>T	ENSP00000305617:p.Glu142Lys		112486313	NM_001085377	D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	CCDS4111.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.72	3.880066	0.72294	0.0	1.16E-4	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	D;T;T	0.83506	-1.73;2.42;1.25	5.61	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.81889	0.4918	N	0.08118	0	0.53688	D	0.999979	D;P;D;D	0.65815	0.992;0.826;0.995;0.992	P;P;D;P	0.70716	0.905;0.692;0.97;0.905	D	0.85082	0.0946	10	0.51188	T	0.08	-16.5544	15.4174	0.74980	0.1403:0.8597:0.0:0.0	.	142;104;332;142	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	K	142;79;332	ENSP00000305617:E142K;ENSP00000421615:E79K;ENSP00000386227:E332K	ENSP00000305617:E142K	E	-	1	0	MCC	112486313	1.000000	0.71417	0.951000	0.38953	0.945000	0.59286	6.155000	0.71833	1.319000	0.45190	0.557000	0.71058	GAA		0.493	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377	
FBN2	2201	hgsc.bcm.edu	37	5	127599224	127599224	+	Silent	SNP	G	G	A			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr5:127599224G>A	ENST00000508053.1	-	69	9059	c.8085C>T	c.(8083-8085)gaC>gaT	p.D2695D	FBN2_ENST00000262464.4_Silent_p.D2695D			P35556	FBN2_HUMAN	fibrillin 2	2695	EGF-like 47; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.D2695D(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACTCATTCACGTCGTGGCAGG	0.602																																					p.D2695D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C8085T	5						.						115.0	107.0	109.0					5																	127599224		2203	4300	6503	127627123	SO:0001819	synonymous_variant	2201	exon63			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8085C>T	5.37:g.127599224G>A			127627123	NM_001999	B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	CCDS34222.1																																																																																				0.602	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
MAP1B	4131	hgsc.bcm.edu	37	5	71495026	71495026	+	Silent	SNP	G	G	A			TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr5:71495026G>A	ENST00000296755.7	+	5	6142	c.5844G>A	c.(5842-5844)cgG>cgA	p.R1948R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1948					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R1948R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGACCACACGGACCCCTGAAG	0.473																																					p.R1948R	Melanoma(17;367 822 11631 31730 47712)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G5844A	5						.						60.0	64.0	62.0					5																	71495026		2203	4300	6503	71530782	SO:0001819	synonymous_variant	4131	exon5			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5844G>A	5.37:g.71495026G>A			71530782	NM_005909	A2BDK5	Silent	SNP	ENST00000296755.7	37	CCDS4012.1																																																																																				0.473	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
GRIA1	2890	hgsc.bcm.edu	37	5	153065877	153065877	+	Silent	SNP	C	C	T	rs140876127		TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AA-3556-01A-01W-0831-10	TCGA-AA-3556-10A-01W-0831-10	g.chr5:153065877C>T	ENST00000285900.5	+	8	1465	c.1122C>T	c.(1120-1122)gaC>gaT	p.D374D	GRIA1_ENST00000340592.5_Silent_p.D374D|GRIA1_ENST00000518783.1_Silent_p.D384D|GRIA1_ENST00000448073.4_Silent_p.D384D|GRIA1_ENST00000518142.1_Silent_p.D294D|GRIA1_ENST00000521843.2_Silent_p.D305D	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	374					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.D374D(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TGAAACATGACGGCATCCGAA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17294	0.001		0.0	False		,,,				2504	0.0				p.D374D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1122T	5						.	C	,	0,4406		0,0,2203	116.0	104.0	108.0		1122,1122	-10.5	0.8	5	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRIA1	NM_000827.3,NM_001114183.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	374/907,374/907	153065877	1,13005	2203	4300	6503	153046070	SO:0001819	synonymous_variant	2890	exon8				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1122C>T	5.37:g.153065877C>T			153046070	NM_001114183	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	CCDS4322.1																																																																																				0.502	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
