#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
ADAMTSL3	57188	hgsc.bcm.edu	37	15	84651581	84651581	+	Silent	SNP	A	A	T			TCGA-24-1558-01	TCGA-24-1558-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr15:84651581A>T	ENST00000286744.5	+	21	3425	c.3201A>T	c.(3199-3201)gcA>gcT	p.A1067A	ADAMTSL3_ENST00000567476.1_Silent_p.A1067A	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1067						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A1067A(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCAATTCTGCAGGAAGCACCA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	15											68.0	69.0	69.0					15																	84651581		2203	4300	6503	82442585	SO:0001819	synonymous_variant	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3201A>T	15.37:g.84651581A>T		Somatic		Capture	SOLID	Phase_III	82442585	A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	CCDS10326.1	SNP	7	Baylor																																																																																				0.433	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		Silent
C1orf43	25912	hgsc.bcm.edu	37	1	154185044	154185044	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1558-01	TCGA-24-1558-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr1:154185044G>A	ENST00000368521.5	-	5	595	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	C1orf43_ENST00000368519.1_Missense_Mutation_p.R115C|C1orf43_ENST00000368516.1_Missense_Mutation_p.R99C|C1orf43_ENST00000350592.3_Missense_Mutation_p.R99C|C1orf43_ENST00000362076.4_Missense_Mutation_p.R81C|C1orf43_ENST00000368518.1_Missense_Mutation_p.R133C	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	133						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.R99C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					AGGTAGGAGCGGAAATTCTTG	0.468																																																1	Substitution - Missense(1)	ovary(1)	1											70.0	66.0	67.0					1																	154185044		2203	4300	6503	152451668	SO:0001583	missense	25912			AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.397C>T	1.37:g.154185044G>A	ENSP00000357507:p.Arg133Cys	Somatic		Capture	SOLID	Phase_III	152451668	A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	CCDS41404.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025765	0.54683	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.39	5.39	0.77823	Dehydrogenase, multihelical (1);	0.097879	0.64402	D	0.000002	T	0.43656	0.1257	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.18741	0.007;0.015;0.03;0.001;0.019	B;B;B;B;B	0.19391	0.004;0.005;0.025;0.001;0.008	T	0.47947	-0.9077	9	0.56958	D	0.05	-20.287	11.436	0.50068	0.0894:0.0:0.9106:0.0	.	115;99;133;81;99	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	C	99;133;81;115;133;99	.	ENSP00000271925:R99C	R	-	1	0	C1orf43	152451668	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.492000	0.53259	2.814000	0.96858	0.585000	0.79938	CGC		0.468	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		Missense_Mutation
GABBR2	9568	hgsc.bcm.edu	37	9	101216465	101216467	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-24-1558-01	TCGA-24-1558-10	TTG	TTG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr9:101216465_101216467delTTG	ENST00000259455.2	-	7	1491_1493	c.1032_1034delCAA	c.(1030-1035)aacaag>aag	p.N344del		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	344					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.N344del(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GCCTGACCGCTTGTTGTTGTACT	0.571																																																1	Deletion - In frame(1)	ovary(1)	9																																								100256288	SO:0001651	inframe_deletion	9568			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1032_1034delCAA	9.37:g.101216471_101216473delTTG	ENSP00000259455:p.Asn344del	Somatic		Capture	SOLID	Phase_III	100256286	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	In_Frame_Del	DEL	ENST00000259455.2	37	CCDS6736.1	DEL	56	Baylor																																																																																				0.571	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			In_Frame_Del
GLI3	2737	hgsc.bcm.edu	37	7	42064966	42064966	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1558-01	TCGA-24-1558-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr7:42064966G>A	ENST00000395925.3	-	9	1337	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	418					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.T418M(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						AGACTCACTCGTGGGCTTGTT	0.527									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																							1	Substitution - Missense(1)	ovary(1)	7											127.0	106.0	113.0					7																	42064966		2203	4300	6503	42031491	SO:0001583	missense	2737	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.1253C>T	7.37:g.42064966G>A	ENSP00000379258:p.Thr418Met	Somatic		Capture	SOLID	Phase_III	42031491	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	SNP	40	Baylor	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545413	0.86022	.	.	ENSG00000106571	ENST00000395925	T	0.70869	-0.52	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.82291	0.5005	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.63703	0.917	T	0.83190	-0.0084	10	0.72032	D	0.01	.	19.7525	0.96273	0.0:0.0:1.0:0.0	.	418	P10071	GLI3_HUMAN	M	418	ENSP00000379258:T418M	ENSP00000379258:T418M	T	-	2	0	GLI3	42031491	1.000000	0.71417	0.991000	0.47740	0.966000	0.64601	7.639000	0.83342	2.669000	0.90835	0.591000	0.81541	ACG		0.527	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		Missense_Mutation
HIST1H4E	8367	hgsc.bcm.edu	37	6	26205070	26205070	+	Silent	SNP	G	G	C	rs145407769	byFrequency	TCGA-24-1558-01	TCGA-24-1558-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr6:26205070G>C	ENST00000360441.4	+	1	213	c.198G>C	c.(196-198)gtG>gtC	p.V66V		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	66					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.V66V(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TGGAAAACGTGATTCGTGATG	0.567																																																1	Substitution - coding silent(1)	ovary(1)	6						G		1,4405		0,1,2202	140.0	125.0	130.0		198	-2.3	0.6	6	dbSNP_134	130	2,8598		0,2,4298	no	coding-synonymous	HIST1H4E	NM_003545.3		0,3,6500	CC,CG,GG		0.0233,0.0227,0.0231		66/104	26205070	3,13003	2203	4300	6503	26313049	SO:0001819	synonymous_variant	8367			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.198G>C	6.37:g.26205070G>C		Somatic		Capture	SOLID	Phase_III	26313049	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000360441.4	37	CCDS4593.1	SNP	45	Baylor																																																																																				0.567	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		Silent
IL19	29949	hgsc.bcm.edu	37	1	207015914	207015914	+	Missense_Mutation	SNP	G	G	A	rs144719259		TCGA-24-1558-01	TCGA-24-1558-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr1:207015914G>A	ENST00000270218.6	+	7	1420	c.481G>A	c.(481-483)Gac>Aac	p.D161N	IL19_ENST00000340758.2_Missense_Mutation_p.D199N	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	161					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)	p.D161N(1)		central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GGGAGAGCTCGACGTCTTTCT	0.458																																																1	Substitution - Missense(1)	ovary(1)	1						G	ASN/ASP,ASN/ASP	0,4404		0,0,2202	56.0	54.0	55.0		481,595	0.9	0.0	1	dbSNP_134	55	2,8596		0,2,4297	yes	missense,missense	IL19	NM_013371.3,NM_153758.2	23,23	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	161/178,199/216	207015914	2,13000	2202	4299	6501	205082537	SO:0001583	missense	29949			AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.481G>A	1.37:g.207015914G>A	ENSP00000270218:p.Asp161Asn	Somatic		Capture	SOLID	Phase_III	205082537	B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	ENST00000270218.6	37	CCDS1469.1	SNP	37	Baylor	.	.	.	.	.	.	.	.	.	.	G	6.114	0.389211	0.11581	0.0	2.33E-4	ENSG00000142224	ENST00000340758;ENST00000270218	T;T	0.34072	1.38;1.38	5.38	0.917	0.19380	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.143337	0.64402	N	0.000009	T	0.24044	0.0582	L	0.33792	1.035	0.09310	N	1	B;B	0.18461	0.028;0.028	B;B	0.16722	0.016;0.016	T	0.15838	-1.0423	10	0.48119	T	0.1	.	7.7784	0.29051	0.4024:0.0:0.5976:0.0	.	161;199	Q9UHD0;Q5VUT3	IL19_HUMAN;.	N	199;161	ENSP00000343000:D199N;ENSP00000270218:D161N	ENSP00000270218:D161N	D	+	1	0	IL19	205082537	0.051000	0.20477	0.000000	0.03702	0.004000	0.04260	0.698000	0.25571	-0.044000	0.13491	-0.734000	0.03567	GAC		0.458	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2	NM_153758		Missense_Mutation
LRRC27	80313	hgsc.bcm.edu	37	10	134175056	134175056	+	Silent	SNP	G	G	A	rs373107236		TCGA-24-1558-01	TCGA-24-1558-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr10:134175056G>A	ENST00000368614.3	+	9	1371	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S	LRRC27_ENST00000432555.2_Silent_p.S295S|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368613.4_Silent_p.S422S|LRRC27_ENST00000368610.3_Silent_p.S360S|LRRC27_ENST00000368612.1_Silent_p.S360S|LRRC27_ENST00000392638.2_3'UTR	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	422								p.S422S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AAGAGAAATCGCCACAAGCAA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	10						A	,	1,4405	2.1+/-5.4	0,1,2202	112.0	117.0	115.0		1266,1266	-6.7	0.0	10		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRRC27	NM_001143757.1,NM_030626.2	,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,	422/531,422/531	134175056	2,13004	2203	4300	6503	134025046	SO:0001819	synonymous_variant	80313			AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1266G>A	10.37:g.134175056G>A		Somatic		Capture	SOLID	Phase_III	134025046	A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Silent	SNP	ENST00000368614.3	37	CCDS31316.1	SNP	38	Baylor																																																																																				0.483	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		Silent
MUC15	143662	hgsc.bcm.edu	37	11	26584679	26584679	+	Silent	SNP	G	G	A			TCGA-24-1558-01	TCGA-24-1558-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr11:26584679G>A	ENST00000455601.2	-	3	946	c.828C>T	c.(826-828)gaC>gaT	p.D276D	ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Silent_p.D303D|MUC15_ENST00000436318.2_Silent_p.D303D|MUC15_ENST00000527569.1_Intron|MUC15_ENST00000281268.8_Intron	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	276					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D276D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CATTTCTGTCGTCATAAAGTC	0.408																																																2	Substitution - coding silent(2)	ovary(1)|central_nervous_system(1)	11											91.0	92.0	91.0					11																	26584679		2203	4300	6503	26541255	SO:0001819	synonymous_variant	143662			AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.828C>T	11.37:g.26584679G>A		Somatic		Capture	SOLID	Phase_III	26541255	B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Silent	SNP	ENST00000455601.2	37	CCDS7859.1	SNP	40	Baylor																																																																																				0.408	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1	NM_145650		Silent
MYH4	4622	hgsc.bcm.edu	37	17	10358096	10358096	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1558-01	TCGA-24-1558-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr17:10358096G>A	ENST00000255381.2	-	22	2577	c.2467C>T	c.(2467-2469)Cgt>Tgt	p.R823C	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	823					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.R823C(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGAAAGCACGGATGTTGTAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	17											131.0	114.0	120.0					17																	10358096		2203	4300	6503	10298821	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2467C>T	17.37:g.10358096G>A	ENSP00000255381:p.Arg823Cys	Somatic		Capture	SOLID	Phase_III	10298821		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979451	0.74360	.	.	ENSG00000141048	ENST00000255381	D	0.87029	-2.2	5.17	5.17	0.71159	.	0.000000	0.37955	U	0.001863	D	0.96411	0.8829	H	0.98682	4.3	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.98038	1.0380	10	0.87932	D	0	.	19.0309	0.92957	0.0:0.0:1.0:0.0	.	823	Q9Y623	MYH4_HUMAN	C	823	ENSP00000255381:R823C	ENSP00000255381:R823C	R	-	1	0	MYH4	10298821	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	6.484000	0.73621	2.567000	0.86603	0.467000	0.42956	CGT		0.423	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		Missense_Mutation
MYO1A	4640	hgsc.bcm.edu	37	12	57430806	57430806	+	Nonsense_Mutation	SNP	G	G	A	rs185972678		TCGA-24-1558-01	TCGA-24-1558-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr12:57430806G>A	ENST00000442789.2	-	21	2412	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	MYO1A_ENST00000544473.1_Nonsense_Mutation_p.R547*|MYO1A_ENST00000300119.3_Nonsense_Mutation_p.R709*|MYO1A_ENST00000476795.1_5'Flank	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	709	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R709*(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CGCCAGCCTCGGTAAATCTTC	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16797	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Nonsense(1)	ovary(1)	12											88.0	92.0	91.0					12																	57430806		2203	4300	6503	55717073	SO:0001587	stop_gained	4640			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.2125C>T	12.37:g.57430806G>A	ENSP00000393392:p.Arg709*	Somatic		Capture	SOLID	Phase_III	55717073	Q9UQD7	Nonsense_Mutation	SNP	ENST00000442789.2	37	CCDS8929.1	SNP	39	Baylor	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	41	9.144032	0.99080	.	.	ENSG00000166866	ENST00000300119;ENST00000442789;ENST00000544473	.	.	.	5.46	4.56	0.56223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4372	0.61090	0.0:0.0:0.8419:0.1581	.	.	.	.	X	709;709;547	.	ENSP00000300119:R709X	R	-	1	2	MYO1A	55717073	1.000000	0.71417	0.984000	0.44739	0.943000	0.58893	1.320000	0.33666	1.292000	0.44672	0.563000	0.77884	CGA		0.552	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379		Nonsense_Mutation
NDST2	8509	hgsc.bcm.edu	37	10	75563695	75563695	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1558-01	TCGA-24-1558-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr10:75563695C>A	ENST00000309979.6	-	10	2479	c.1923G>T	c.(1921-1923)gaG>gaT	p.E641D	ZSWIM8-AS1_ENST00000456638.2_RNA|NDST2_ENST00000299641.4_Missense_Mutation_p.E518D|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.E641D			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	641	Heparan sulfate N-sulfotransferase 2.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.E641D(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					AGAACTGAATCTCCTCAAATG	0.488																																																1	Substitution - Missense(1)	ovary(1)	10											152.0	150.0	151.0					10																	75563695		2203	4300	6503	75233701	SO:0001583	missense	8509			U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.1923G>T	10.37:g.75563695C>A	ENSP00000310657:p.Glu641Asp	Somatic		Capture	SOLID	Phase_III	75233701	Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	CCDS7335.1	SNP	32	Baylor	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436435	0.83885	.	.	ENSG00000166507	ENST00000309979;ENST00000299641	T;T	0.66460	-0.21;-0.21	5.95	5.04	0.67666	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.87051	0.6081	H	0.95816	3.725	0.80722	D	1	P;D;D;D	0.89917	0.953;1.0;0.999;0.982	D;D;D;D	0.97110	0.984;1.0;0.992;0.986	D	0.91076	0.4896	10	0.87932	D	0	.	15.5396	0.76031	0.0:0.9332:0.0:0.0668	.	518;311;164;641	B4E139;B4DQU1;B4DE98;P52849	.;.;.;NDST2_HUMAN	D	641;518	ENSP00000310657:E641D;ENSP00000299641:E518D	ENSP00000299641:E518D	E	-	3	2	NDST2	75233701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.365000	0.52335	1.498000	0.48600	0.655000	0.94253	GAG		0.488	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1	NM_003635		Missense_Mutation
NOMO2	283820	hgsc.bcm.edu	37	16	18520493	18520493	+	Silent	SNP	A	A	G			TCGA-24-1558-01	TCGA-24-1558-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr16:18520493A>G	ENST00000381474.3	-	28	3383	c.3318T>C	c.(3316-3318)gaT>gaC	p.D1106D	NOMO2_ENST00000330537.6_Silent_p.D1106D|NOMO2_ENST00000543392.1_Silent_p.D939D	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	1106						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.D1106D(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TTACCTCGCCATCTCTGAGCA	0.463																																																1	Substitution - coding silent(1)	ovary(1)	16											1.0	1.0	1.0					16																	18520493		1	1	2	18427994	SO:0001819	synonymous_variant	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.3318T>C	16.37:g.18520493A>G		Somatic		Capture	SOLID	Phase_III	18427994	Q4G177	Silent	SNP	ENST00000381474.3	37	CCDS32394.1	SNP	8	Baylor																																																																																				0.463	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		Silent
NOMO2	283820	hgsc.bcm.edu	37	16	18528532	18528532	+	Silent	SNP	G	G	T			TCGA-24-1558-01	TCGA-24-1558-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr16:18528532G>T	ENST00000381474.3	-	23	2801	c.2736C>A	c.(2734-2736)ggC>ggA	p.G912G	NOMO2_ENST00000330537.6_Silent_p.G912G|NOMO2_ENST00000543392.1_Silent_p.G745G	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	912						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G912G(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						ATGTCAGAATGCCGTTGTCCT	0.527																																																1	Substitution - coding silent(1)	ovary(1)	16																																								18436033	SO:0001819	synonymous_variant	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.2736C>A	16.37:g.18528532G>T		Somatic		Capture	SOLID	Phase_III	18436033	Q4G177	Silent	SNP	ENST00000381474.3	37	CCDS32394.1	SNP	46	Baylor																																																																																				0.527	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		Silent
NOMO2	283820	hgsc.bcm.edu	37	16	18549971	18549971	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1558-01	TCGA-24-1558-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr16:18549971C>T	ENST00000381474.3	-	11	1162	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	NOMO2_ENST00000330537.6_Missense_Mutation_p.R366H|NOMO2_ENST00000543392.1_Missense_Mutation_p.R199H	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	366						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R366H(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						GTTCTCAAGGCGGAATGAGCC	0.408																																																1	Substitution - Missense(1)	ovary(1)	16											23.0	18.0	20.0					16																	18549971		1566	3239	4805	18457472	SO:0001583	missense	283820			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.1097G>A	16.37:g.18549971C>T	ENSP00000370883:p.Arg366His	Somatic		Capture	SOLID	Phase_III	18457472	Q4G177	Missense_Mutation	SNP	ENST00000381474.3	37	CCDS32394.1	SNP	27	Baylor	.	.	.	.	.	.	.	.	.	.	.	19.40	3.819943	0.71028	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.48522	0.81;0.81;0.81	2.57	2.57	0.30868	Carbohydrate-binding-like fold (1);Domain of unknown function DUF2012 (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.69823	2.125	0.80722	D	1	D;D	0.67145	0.996;0.992	P;P	0.55713	0.782;0.782	T	0.62115	-0.6922	10	0.44086	T	0.13	-11.9064	12.4834	0.55856	0.0:1.0:0.0:0.0	.	199;366	Q4G177;Q5JPE7	.;NOMO2_HUMAN	H	366;366;199	ENSP00000331851:R366H;ENSP00000370883:R366H;ENSP00000439970:R199H	ENSP00000331851:R366H	R	-	2	0	NOMO2	18457472	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.294000	0.78760	1.416000	0.47057	0.400000	0.26472	CGC		0.408	NOMO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435858.1	NM_001004060		Missense_Mutation
NOTCH2	4853	hgsc.bcm.edu	37	1	120461166	120461166	+	Missense_Mutation	SNP	C	C	T	rs200693165		TCGA-24-1558-01	TCGA-24-1558-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr1:120461166C>T	ENST00000256646.2	-	32	6011	c.5792G>A	c.(5791-5793)cGc>cAc	p.R1931H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1931					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.R1931H(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCGGTTGCGAATCAGAAT	0.483			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																														Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	1	Substitution - Missense(1)	ovary(1)	1											71.0	69.0	70.0					1																	120461166		2203	4300	6503	120262689	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5792G>A	1.37:g.120461166C>T	ENSP00000256646:p.Arg1931His	Somatic		Capture	SOLID	Phase_III	120262689	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	SNP	27	Baylor	.	.	.	.	.	.	.	.	.	.	C	35	5.470702	0.96274	.	.	ENSG00000134250	ENST00000256646	T	0.64618	-0.11	5.76	5.76	0.90799	Ankyrin repeat-containing domain (4);	0.000000	0.38492	U	0.001670	T	0.69260	0.3091	L	0.41415	1.275	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71613	-0.4540	10	0.87932	D	0	.	18.9587	0.92670	0.0:1.0:0.0:0.0	.	1931	Q04721	NOTC2_HUMAN	H	1931	ENSP00000256646:R1931H	ENSP00000256646:R1931H	R	-	2	0	NOTCH2	120262689	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.487000	0.81328	2.728000	0.93425	0.655000	0.94253	CGC		0.483	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		Missense_Mutation
NTRK1	4914	hgsc.bcm.edu	37	1	156851381	156851381	+	Missense_Mutation	SNP	C	C	G	rs537948663		TCGA-24-1558-01	TCGA-24-1558-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr1:156851381C>G	ENST00000524377.1	+	17	2379	c.2338C>G	c.(2338-2340)Cgg>Ggg	p.R780G	NTRK1_ENST00000368196.3_Missense_Mutation_p.R774G|NTRK1_ENST00000392302.2_Missense_Mutation_p.R744G|NTRK1_ENST00000358660.3_Missense_Mutation_p.R777G|NTRK1_ENST00000531606.1_3'UTR	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	780	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> P (in CIPA; loss of function; dbSNP:rs35669708). {ECO:0000269|PubMed:10090906}.|R -> Q (in dbSNP:rs35669708). {ECO:0000269|PubMed:10443680, ECO:0000269|PubMed:17344846}.		activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R780G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	TGTGCACGCCCGGCTGCAAGC	0.692			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																													Dom	yes		1	1q21-q22	4914	"""neurotrophic tyrosine kinase, receptor, type 1"""		E	1	Substitution - Missense(1)	ovary(1)	1											24.0	25.0	24.0					1																	156851381		2202	4297	6499	155118005	SO:0001583	missense	4914			Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.2338C>G	1.37:g.156851381C>G	ENSP00000431418:p.Arg780Gly	Somatic		Capture	SOLID	Phase_III	155118005	B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	CCDS1161.1	SNP	23	Baylor	.	.	.	.	.	.	.	.	.	.	C	9.343	1.063439	0.20067	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.01	2.1	0.27182	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.109267	0.41097	D	0.000949	T	0.69663	0.3136	M	0.64404	1.975	0.09310	N	0.999997	B;B;P;P	0.42161	0.293;0.249;0.756;0.772	B;B;B;P	0.47981	0.425;0.203;0.282;0.563	T	0.61695	-0.7010	10	0.21014	T	0.42	.	7.1091	0.25380	0.4393:0.482:0.0:0.0787	.	777;774;780;744	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	G	744;774;780;777	ENSP00000376120:R744G;ENSP00000357179:R774G;ENSP00000431418:R780G;ENSP00000351486:R777G	ENSP00000351486:R777G	R	+	1	2	NTRK1	155118005	0.000000	0.05858	0.038000	0.18304	0.058000	0.15608	0.566000	0.23593	0.287000	0.22375	-0.152000	0.13540	CGG		0.692	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		Missense_Mutation
NTRK3	4916	hgsc.bcm.edu	37	15	88423602	88423602	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1558-01	TCGA-24-1558-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr15:88423602G>A	ENST00000360948.2	-	18	2394	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W	NTRK3_ENST00000355254.2_Missense_Mutation_p.R731W|NTRK3_ENST00000357724.2_Missense_Mutation_p.R737W|NTRK3_ENST00000557856.1_Missense_Mutation_p.R723W|NTRK3_ENST00000394480.2_Missense_Mutation_p.R731W	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	745	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> P (in a lung carcinoma sample; somatic mutation). {ECO:0000269|PubMed:18293376}.		activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R731W(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GTGAACTTCCGGTACATGATG	0.522			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																													Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	1	Substitution - Missense(1)	ovary(1)	15											115.0	96.0	103.0					15																	88423602		2201	4299	6500	86224606	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2233C>T	15.37:g.88423602G>A	ENSP00000354207:p.Arg745Trp	Somatic		Capture	SOLID	Phase_III	86224606	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	19.44	3.827365	0.71143	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.34	3.23	0.37069	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86698	0.5995	L	0.42686	1.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;1.0	D	0.87510	0.2439	10	0.87932	D	0	.	12.5107	0.56003	0.0:0.0:0.5812:0.4188	.	723;731;745	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	W	731;745;737;731	ENSP00000377990:R731W;ENSP00000354207:R745W;ENSP00000350356:R737W;ENSP00000347397:R731W	ENSP00000347397:R731W	R	-	1	2	NTRK3	86224606	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.140000	0.31516	1.223000	0.43536	0.655000	0.94253	CGG		0.522	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				Missense_Mutation
NUP210	23225	hgsc.bcm.edu	37	3	13364842	13364842	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1558-01	TCGA-24-1558-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr3:13364842C>A	ENST00000254508.5	-	34	4817	c.4735G>T	c.(4735-4737)Gtt>Ttt	p.V1579F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1579					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.V1579F(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCCACGGCAACAATCACTTTG	0.587																																																1	Substitution - Missense(1)	ovary(1)	3											135.0	137.0	136.0					3																	13364842		2203	4300	6503	13339842	SO:0001583	missense	23225			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.4735G>T	3.37:g.13364842C>A	ENSP00000254508:p.Val1579Phe	Somatic		Capture	SOLID	Phase_III	13339842	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	CCDS33704.1	SNP	17	Baylor	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610537	0.28712	.	.	ENSG00000132182	ENST00000254508	T	0.06371	3.31	5.54	2.37	0.29283	.	0.389332	0.26919	N	0.021834	T	0.08447	0.0210	M	0.72118	2.19	0.18873	N	0.999988	P	0.43826	0.818	B	0.39465	0.3	T	0.17018	-1.0383	10	0.54805	T	0.06	-16.9407	7.6532	0.28360	0.0:0.6925:0.0:0.3075	.	1579	Q8TEM1	PO210_HUMAN	F	1579	ENSP00000254508:V1579F	ENSP00000254508:V1579F	V	-	1	0	NUP210	13339842	0.015000	0.18098	0.001000	0.08648	0.770000	0.43624	0.145000	0.16157	0.233000	0.21120	0.655000	0.94253	GTT		0.587	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		Missense_Mutation
OR5B2	390190	hgsc.bcm.edu	37	11	58189993	58189993	+	Missense_Mutation	SNP	C	C	T	rs140238243		TCGA-24-1558-01	TCGA-24-1558-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr11:58189993C>T	ENST00000302581.2	-	1	793	c.742G>A	c.(742-744)Gtc>Atc	p.V248I		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V248I(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCATAGAAGACGGAGACTGCA	0.468																																																1	Substitution - Missense(1)	ovary(1)	11						T	ILE/VAL	0,4402		0,0,2201	127.0	116.0	119.0		742	2.5	0.0	11	dbSNP_134	119	2,8588	818.7+/-406.8	0,2,4293	yes	missense	OR5B2	NM_001005566.2	29	0,2,6494	TT,TC,CC		0.0233,0.0,0.0154	benign	248/310	58189993	2,12990	2201	4295	6496	57946569	SO:0001583	missense	390190			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.742G>A	11.37:g.58189993C>T	ENSP00000303076:p.Val248Ile	Somatic		Capture	SOLID	Phase_III	57946569	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	CCDS31550.1	SNP	19	Baylor	.	.	.	.	.	.	.	.	.	.	T	0	-2.602748	0.00123	0.0	2.33E-4	ENSG00000172365	ENST00000302581	T	0.00063	8.78	3.73	2.55	0.30701	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36167	N	0.002757	T	0.00039	0.0001	N	0.00280	-1.71	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38178	-0.9673	10	0.02654	T	1	-5.8228	5.6098	0.17398	0.0:0.0958:0.3248:0.5793	.	248	Q96R09	OR5B2_HUMAN	I	248	ENSP00000303076:V248I	ENSP00000303076:V248I	V	-	1	0	OR5B2	57946569	0.000000	0.05858	0.027000	0.17364	0.169000	0.22640	-0.980000	0.03770	0.134000	0.18681	-0.352000	0.07741	GTC		0.468	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		Missense_Mutation
POLD4	57804	hgsc.bcm.edu	37	11	67120856	67120856	+	Silent	SNP	C	C	T			TCGA-24-1558-01	TCGA-24-1558-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr11:67120856C>T	ENST00000312419.3	-	1	161	c.15G>A	c.(13-15)cgG>cgA	p.R5R	POLD4_ENST00000539074.1_Silent_p.R5R|POLD4_ENST00000529704.1_Intron|AP003419.11_ENST00000543494.1_RNA	NM_021173.4	NP_066996.3	Q9HCU8	DPOD4_HUMAN	polymerase (DNA-directed), delta 4, accessory subunit	5					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			CAGTGATGAGCCGCTTCCGGC	0.662																																																0			11											40.0	44.0	43.0					11																	67120856		2200	4295	6495	66877432	SO:0001819	synonymous_variant	57804			AF179890	CCDS8158.1, CCDS58149.1	11q13	2012-05-18	2012-05-18		ENSG00000175482	ENSG00000175482		"""DNA polymerases"""	14106	protein-coding gene	gene with protein product	"""DNA polymerase delta smallest subunit p12"""	611525	"""polymerase (DNA-directed), delta 4"""			10751307	Standard	NM_021173		Approved	p12, POLDS	uc001okm.4	Q9HCU8	OTTHUMG00000167135	ENST00000312419.3:c.15G>A	11.37:g.67120856C>T		Somatic		Capture	SOLID	Phase_III	66877432	F5H506	Silent	SNP	ENST00000312419.3	37	CCDS8158.1	SNP	26	Baylor																																																																																				0.662	POLD4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393336.1	NM_021173		Silent
PRRX1	5396	hgsc.bcm.edu	37	1	170695481	170695481	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1558-01	TCGA-24-1558-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr1:170695481G>A	ENST00000239461.6	+	3	851	c.538G>A	c.(538-540)Gta>Ata	p.V180I	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Missense_Mutation_p.V180I|PRRX1_ENST00000367760.3_Missense_Mutation_p.V180I	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	180					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.V180I(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAGCCCATCGTACCTCGTCC	0.562																																																1	Substitution - Missense(1)	ovary(1)	1											108.0	96.0	100.0					1																	170695481		2203	4300	6503	168962105	SO:0001583	missense	5396			M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.538G>A	1.37:g.170695481G>A	ENSP00000239461:p.Val180Ile	Somatic		Capture	SOLID	Phase_III	168962105	B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	CCDS1290.1	SNP	40	Baylor	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607788	0.66558	.	.	ENSG00000116132	ENST00000367760;ENST00000239461;ENST00000497230;ENST00000476867;ENST00000495280	D;D;D;T	0.91464	-2.81;-2.85;-2.77;-1.2	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.91392	0.7284	L	0.60455	1.87	0.50171	D	0.999858	D;D	0.55605	0.968;0.972	P;P	0.56343	0.796;0.467	D	0.90050	0.4148	10	0.36615	T	0.2	.	17.7361	0.88394	0.0:0.0:1.0:0.0	.	180;180	P54821;P54821-2	PRRX1_HUMAN;.	I	180;180;180;25;25	ENSP00000356734:V180I;ENSP00000239461:V180I;ENSP00000450762:V180I;ENSP00000451225:V25I	ENSP00000239461:V180I	V	+	1	0	PRRX1	168962105	1.000000	0.71417	0.984000	0.44739	0.979000	0.70002	9.214000	0.95140	2.533000	0.85409	0.650000	0.86243	GTA		0.562	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		Missense_Mutation
SLC4A7	9497	hgsc.bcm.edu	37	3	27490241	27490241	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1558-01	TCGA-24-1558-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr3:27490241T>A	ENST00000295736.5	-	3	233	c.163A>T	c.(163-165)Agt>Tgt	p.S55C	SLC4A7_ENST00000445684.1_Missense_Mutation_p.S64C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S64C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S55C|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S64C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S60C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S60C|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S60C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.S64C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S60C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	55					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.S55C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CGCCGACGACTCTCTTTACTA	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											177.0	157.0	164.0					3																	27490241		2203	4300	6503	27465245	SO:0001583	missense	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.163A>T	3.37:g.27490241T>A	ENSP00000295736:p.Ser55Cys	Somatic		Capture	SOLID	Phase_III	27465245	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	SNP	54	Baylor	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999179	0.74818	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T	0.79454	-1.18;-1.22;-1.19;-1.27;-1.22;-1.27;-1.22;-1.27;-1.22;0.22;-1.21	5.56	3.19	0.36642	.	0.126114	0.64402	D	0.000001	D	0.85366	0.5680	M	0.82923	2.615	0.29249	N	0.87209	D;D;D;D;P;D;D;P;D	0.63880	0.966;0.981;0.966;0.975;0.948;0.993;0.989;0.948;0.967	P;P;P;P;B;P;D;B;P	0.63381	0.599;0.823;0.599;0.599;0.387;0.886;0.914;0.293;0.713	T	0.80296	-0.1442	10	0.72032	D	0.01	.	8.2073	0.31463	0.0:0.2787:0.0:0.7213	.	64;60;60;64;64;60;55;55;60	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;B6DY53;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	55;55;64;64;60;60;60;64;64;60;55	ENSP00000295736:S55C;ENSP00000416368:S55C;ENSP00000390394:S64C;ENSP00000414797:S64C;ENSP00000394252:S60C;ENSP00000406605:S60C;ENSP00000407382:S60C;ENSP00000406804:S64C;ENSP00000395336:S64C;ENSP00000401949:S60C;ENSP00000388703:S55C	ENSP00000295736:S55C	S	-	1	0	SLC4A7	27465245	0.934000	0.31675	1.000000	0.80357	0.995000	0.86356	1.527000	0.35975	0.407000	0.25591	0.528000	0.53228	AGT		0.403	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		Missense_Mutation
SLCO1C1	53919	hgsc.bcm.edu	37	12	20868200	20868200	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1558-01	TCGA-24-1558-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr12:20868200C>A	ENST00000266509.2	+	6	1025	c.657C>A	c.(655-657)gaC>gaA	p.D219E	SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D219E|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.D219E|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D101E	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	219					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D219E(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	CCAGTGAAGACAATGCAGCTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	12											160.0	142.0	148.0					12																	20868200		2203	4300	6503	20759467	SO:0001583	missense	53919			AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.657C>A	12.37:g.20868200C>A	ENSP00000266509:p.Asp219Glu	Somatic		Capture	SOLID	Phase_III	20759467	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	CCDS8683.1	SNP	17	Baylor	.	.	.	.	.	.	.	.	.	.	C	2.610	-0.290997	0.05568	.	.	ENSG00000139155	ENST00000545604;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T	0.79653	0.42;0.42;0.42;-1.29	4.99	4.09	0.47781	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.167851	0.52532	D	0.000065	T	0.43010	0.1228	N	0.00419	-1.52	0.33188	D	0.550446	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.08055	0.003;0.002;0.001	T	0.54675	-0.8258	10	0.02654	T	1	.	9.1799	0.37134	0.0:0.7184:0.1952:0.0864	.	101;219;219	F5GZD6;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	E	219;219;219;101	ENSP00000444149:D219E;ENSP00000266509:D219E;ENSP00000370964:D219E;ENSP00000444527:D101E	ENSP00000266509:D219E	D	+	3	2	SLCO1C1	20759467	0.839000	0.29477	1.000000	0.80357	0.998000	0.95712	-0.073000	0.11468	2.473000	0.83533	0.563000	0.77884	GAC		0.408	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		Missense_Mutation
SMARCA2	6595	hgsc.bcm.edu	37	9	2054620	2054620	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1558-01	TCGA-24-1558-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr9:2054620G>T	ENST00000382203.1	+	6	1279	c.1070G>T	c.(1069-1071)aGg>aTg	p.R357M	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R357M|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R357M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R357M			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	357					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.R353M(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ATAGCTCATAGGATACAAGAA	0.408																																																1	Substitution - Missense(1)	ovary(1)	9											99.0	109.0	106.0					9																	2054620		2203	4300	6503	2044620	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1070G>T	9.37:g.2054620G>T	ENSP00000371638:p.Arg357Met	Somatic		Capture	SOLID	Phase_III	2044620	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	SNP	35	Baylor	.	.	.	.	.	.	.	.	.	.	G	33	5.254800	0.95336	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	D;D;T;D;D	0.91577	-2.83;-2.87;2.54;-2.83;-2.87	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.95758	0.8620	M	0.81682	2.555	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.993	D	0.95521	0.8594	10	0.87932	D	0	-32.2181	20.3334	0.98727	0.0:0.0:1.0:0.0	.	357;357	P51531-2;P51531	.;SMCA2_HUMAN	M	357	ENSP00000265773:R357M;ENSP00000349788:R357M;ENSP00000392081:R357M;ENSP00000371638:R357M;ENSP00000371629:R357M	ENSP00000265773:R357M	R	+	2	0	SMARCA2	2044620	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.813000	0.99286	2.818000	0.97014	0.591000	0.81541	AGG		0.408	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		Missense_Mutation
TDG	6996	hgsc.bcm.edu	37	12	104373728	104373729	+	Frame_Shift_Ins	INS	-	-	A	rs151041931	byFrequency	TCGA-24-1558-01	TCGA-24-1558-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr12:104373728_104373729insA	ENST00000392872.3	+	3	520_521	c.286_287insA	c.(286-288)gaafs	p.E96fs	TDG_ENST00000542036.1_5'Flank|TDG_ENST00000266775.9_Frame_Shift_Ins_p.E92fs|TDG_ENST00000544861.1_5'UTR	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	96					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)	p.I98fs*6(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AGAAAAACAAGAAAAAATTACA	0.356								Base excision repair (BER), DNA glycosylases					AAAAAA|AAAAAA|AAAAAAA|insertion	2365	0.472244	0.4947	0.4597	5008	,	,		24291	0.4802		0.4324	False		,,,				2504	0.4836															1	Insertion - Frameshift(1)	ovary(1)	12								2087,2177		2,2083,47						5.2	1.0		dbSNP_130	68	3484,4770		1,3482,644	yes	frameshift	TDG	NM_003211.4		3,5565,691	A1A1,A1R,RR		42.2098,48.9447,44.5039				5571,6947				102897859	SO:0001589	frameshift_variant	6996			U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.292dupA	12.37:g.104373734_104373734dupA	ENSP00000376611:p.Glu96fs	Somatic		Capture	SOLID	Phase_III	102897858	Q8IUZ6|Q8IZM3	Frame_Shift_Ins	INS	ENST00000392872.3	37	CCDS9095.1	INS	33	Baylor																																																																																				0.356	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			Frame_Shift_Ins
TKT	7086	hgsc.bcm.edu	37	3	53263350	53263350	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1558-01	TCGA-24-1558-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr3:53263350C>T	ENST00000462138.1	-	9	1298	c.1210G>A	c.(1210-1212)Gcc>Acc	p.A404T	TKT_ENST00000423525.2_Missense_Mutation_p.A404T|TKT_ENST00000296289.6_Missense_Mutation_p.A357T|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.A412T			P29401	TKT_HUMAN	transketolase	404					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)	p.A404T(2)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		TCGGAGATGGCGGCCATGCGA	0.597																																					Colon(133;1506 2347 35238 42177)											2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	3											57.0	52.0	54.0					3																	53263350		2203	4300	6503	53238390	SO:0001583	missense	7086				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1210G>A	3.37:g.53263350C>T	ENSP00000417773:p.Ala404Thr	Somatic		Capture	SOLID	Phase_III	53238390	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Missense_Mutation	SNP	ENST00000462138.1	37	CCDS2871.1	SNP	27	Baylor	.	.	.	.	.	.	.	.	.	.	C	32	5.184313	0.94885	.	.	ENSG00000163931	ENST00000462138;ENST00000423525;ENST00000423516;ENST00000296289;ENST00000414014	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.33	5.33	0.75918	Transketolase-like, pyrimidine-binding domain (2);	0.101142	0.64402	D	0.000003	D	0.96864	0.8976	H	0.94925	3.6	0.80722	D	1	D;D;D	0.71674	0.998;0.99;0.99	P;P;P	0.59012	0.85;0.804;0.69	D	0.97779	1.0231	10	0.72032	D	0.01	-28.8054	19.0493	0.93036	0.0:1.0:0.0:0.0	.	412;321;404	E7EPA7;B3KSI4;P29401	.;.;TKT_HUMAN	T	404;404;412;357;238	ENSP00000417773:A404T;ENSP00000405455:A404T;ENSP00000391481:A412T;ENSP00000296289:A357T	ENSP00000296289:A357T	A	-	1	0	TKT	53238390	1.000000	0.71417	0.950000	0.38849	0.820000	0.46376	6.079000	0.71291	2.490000	0.84030	0.655000	0.94253	GCC		0.597	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350356.1			Missense_Mutation
TP53	7157	hgsc.bcm.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-24-1558-01	TCGA-24-1558-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-24-1558-01	TCGA-24-1558-10	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_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	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				Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	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)	17	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576						67.0	58.0	61.0					17																	7577120		2203	4300	6503	7517845	SO:0001583	missense	7157	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	Somatic		Capture	SOLID	Phase_III	7517845	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	SNP	19	Baylor	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		Missense_Mutation
