#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
ILF3	3609	hgsc.bcm.edu	37	19	10792682	10792683	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr19:10792682_10792683insC	ENST00000590261.1	+	11	1194_1195	c.1194_1195insC	c.(1195-1197)cccfs	p.P399fs	ILF3_ENST00000420083.1_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000250241.8_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000589998.1_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000449870.1_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000318511.3_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000588657.1_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000592763.1_Frame_Shift_Ins_p.P399fs|ILF3_ENST00000407004.3_Frame_Shift_Ins_p.P399fs			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	399	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q401fs*39(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGAAGGCAGAGCCCCCCCAGGC	0.604																																					p.E398fs												.	.	1	Insertion - Frameshift(1)	ovary(1)	c.1194_1195insC	19						.																																			10653683	SO:0001589	frameshift_variant	3609	exon12			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1201dupC	19.37:g.10792689_10792689dupC	ENSP00000468156:p.Pro399fs		10653682	NM_153464	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Frame_Shift_Ins	INS	ENST00000590261.1	37	CCDS12246.1																																																																																				0.604	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		
BRAF	673	hgsc.bcm.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												p.V600E	Colon(40;35 892 2973 5743 27438)		Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	BRAF,pituitary,NS,Substitution - Missense,0	.	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	c.T1799A	7						.						112.0	104.0	107.0					7																	140453136		2203	4300	6503	140099605	SO:0001583	missense	673	exon15	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		140099605	NM_004333	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
SIRPG	55423	hgsc.bcm.edu	37	20	1629815	1629815	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr20:1629815G>A	ENST00000303415.3	-	2	377	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	SIRPG_ENST00000344103.4_Missense_Mutation_p.R105C|SIRPG_ENST00000381580.1_Missense_Mutation_p.R72C|SIRPG_ENST00000381583.2_Missense_Mutation_p.R105C|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000216927.4_Missense_Mutation_p.R105C	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	105	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R105S(1)|p.R105C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTACTGATGCGGATGGAAAAG	0.483																																					p.R105C												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C313T	20						.						311.0	256.0	275.0					20																	1629815		2203	4300	6503	1577815	SO:0001583	missense	55423	exon2			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.313C>T	20.37:g.1629815G>A	ENSP00000305529:p.Arg105Cys		1577815	NM_001039508	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	8.087	0.773762	0.16051	.	.	ENSG00000089012	ENST00000381580;ENST00000344103;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	1.93	1.93	0.25924	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198861	0.36167	N	0.002741	T	0.56746	0.2006	M	0.70903	2.155	0.53005	D	0.999969	P;P;P	0.39480	0.565;0.56;0.675	B;B;B	0.31946	0.083;0.083;0.138	T	0.61098	-0.7131	10	0.54805	T	0.06	.	7.3585	0.26733	0.0:0.0:1.0:0.0	.	105;105;105	Q9P1W8-3;Q9P1W8-4;Q9P1W8	.;.;SIRPG_HUMAN	C	72;105;105;105;105	ENSP00000370992:R72C;ENSP00000342759:R105C;ENSP00000305529:R105C;ENSP00000370995:R105C;ENSP00000216927:R105C	ENSP00000216927:R105C	R	-	1	0	SIRPG	1577815	0.625000	0.27111	0.991000	0.47740	0.346000	0.29079	0.286000	0.18902	1.392000	0.46585	0.195000	0.17529	CGC		0.483	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556	
LGMN	5641	hgsc.bcm.edu	37	14	93172829	93172829	+	Splice_Site	SNP	G	G	A			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr14:93172829G>A	ENST00000393218.2	-	13	1527	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M	LGMN_ENST00000555699.1_Intron|LGMN_ENST00000557434.1_Intron|LGMN_ENST00000334869.4_Splice_Site_p.T397M	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	397					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)	p.T397M(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CTGGCTCACCGTGGGGGAGTG	0.587																																					p.T397M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1190T	14						.						52.0	54.0	53.0					14																	93172829		2203	4300	6503	92242582	SO:0001630	splice_region_variant	5641	exon13			D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.1191+1C>T	14.37:g.93172829G>A			92242582	NM_001008530	O00123|Q86TV2|Q86TV3|Q9BTY1	Missense_Mutation	SNP	ENST00000393218.2	37	CCDS9904.1	.	.	.	.	.	.	.	.	.	.	G	6.585	0.476210	0.12521	.	.	ENSG00000100600	ENST00000334869;ENST00000393218;ENST00000539531;ENST00000535855	T;T	0.44482	0.92;0.92	5.42	-3.12	0.05282	.	0.735360	0.14128	N	0.339563	T	0.17492	0.0420	N	0.05124	-0.11	0.21782	N	0.999545	B;B	0.15473	0.013;0.013	B;B	0.08055	0.003;0.003	T	0.12630	-1.0540	10	0.46703	T	0.11	-18.6786	6.9579	0.24582	0.6498:0.0:0.2137:0.1365	.	397;397	A8K669;Q99538	.;LGMN_HUMAN	M	397;397;374;362	ENSP00000334052:T397M;ENSP00000376911:T397M	ENSP00000334052:T397M	T	-	2	0	LGMN	92242582	0.001000	0.12720	0.693000	0.30195	0.037000	0.13140	-0.209000	0.09358	-0.415000	0.07484	-0.143000	0.13931	ACG		0.587	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606	Missense_Mutation
CD22	933	hgsc.bcm.edu	37	19	35835756	35835756	+	Missense_Mutation	SNP	G	G	A	rs371289554		TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr19:35835756G>A	ENST00000085219.5	+	10	2126	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	CD22_ENST00000594250.1_Missense_Mutation_p.R510Q|CD22_ENST00000419549.2_Missense_Mutation_p.R515Q|CD22_ENST00000536635.2_Missense_Mutation_p.R599Q|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000341773.6_Missense_Mutation_p.R510Q|CD22_ENST00000544992.2_Missense_Mutation_p.R687Q|CD22_ENST00000270311.6_Missense_Mutation_p.R567Q	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	687					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.R687Q(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCGGCAGGCGAGTGGCTGTG	0.627																																					p.R687Q	Ovarian(42;1009 1133 23674 26041)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2060A	19						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	107.0	112.0	110.0		1796,2060,1529,2060	4.2	0.3	19		110	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CD22	NM_001185099.1,NM_001185100.1,NM_001185101.1,NM_001771.3	43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	599/760,687/752,510/671,687/848	35835756	1,13005	2203	4300	6503	40527596	SO:0001583	missense	933	exon10			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2060G>A	19.37:g.35835756G>A	ENSP00000085219:p.Arg687Gln		40527596	NM_001185100	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361097	0.24684	0.0	1.16E-4	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T;T	0.54279	1.02;0.61;0.58;0.98;0.93;1.1	5.25	4.22	0.49857	.	0.000000	0.38605	N	0.001622	T	0.52661	0.1748	L	0.50333	1.59	0.21579	N	0.999632	P;P;D;P;D	0.69078	0.783;0.931;0.99;0.816;0.997	B;B;P;B;P	0.53722	0.11;0.356;0.596;0.085;0.733	T	0.42732	-0.9434	10	0.13108	T	0.6	.	10.0406	0.42155	0.0942:0.0:0.9058:0.0	.	515;687;599;687;510	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	Q	687;599;510;687;567;515	ENSP00000085219:R687Q;ENSP00000442279:R599Q;ENSP00000339349:R510Q;ENSP00000441237:R687Q;ENSP00000270311:R567Q;ENSP00000403822:R515Q	ENSP00000085219:R687Q	R	+	2	0	CD22	40527596	0.799000	0.28903	0.270000	0.24601	0.003000	0.03518	2.883000	0.48554	1.228000	0.43614	-0.444000	0.05651	CGA		0.627	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771	
ZNF585A	199704	hgsc.bcm.edu	37	19	37643430	37643430	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr19:37643430T>G	ENST00000356958.4	-	5	1629	c.1371A>C	c.(1369-1371)aaA>aaC	p.K457N	ZNF585A_ENST00000292841.5_Missense_Mutation_p.K402N|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.K402N|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K402N(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGAATTCGTTTATGAACAT	0.398																																					p.K402N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1206C	19						.						123.0	118.0	120.0					19																	37643430		2203	4300	6503	42335270	SO:0001583	missense	199704	exon6			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1371A>C	19.37:g.37643430T>G	ENSP00000349440:p.Lys457Asn		42335270	NM_199126	Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	T	14.29	2.492197	0.44352	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	T;T;T	0.18657	2.2;2.2;2.2	2.72	0.53	0.17102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39759	N	0.001279	T	0.41971	0.1182	M	0.87269	2.87	0.51233	D	0.999919	D	0.64830	0.994	D	0.70935	0.971	T	0.26780	-1.0093	10	0.87932	D	0	.	4.15	0.10234	0.0:0.3917:0.0:0.6083	.	457	Q6P3V2	Z585A_HUMAN	N	457;402;402	ENSP00000349440:K457N;ENSP00000292841:K402N;ENSP00000375998:K402N	ENSP00000292841:K402N	K	-	3	2	ZNF585A	42335270	0.000000	0.05858	0.572000	0.28498	0.780000	0.44128	-2.616000	0.00881	0.285000	0.22329	0.459000	0.35465	AAA		0.398	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
ZNF585A	199704	hgsc.bcm.edu	37	19	37643432	37643432	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr19:37643432T>A	ENST00000356958.4	-	5	1627	c.1369A>T	c.(1369-1371)Aaa>Taa	p.K457*	ZNF585A_ENST00000292841.5_Nonsense_Mutation_p.K402*|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000392157.2_Nonsense_Mutation_p.K402*|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K402*(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAATTCGTTTATGAACATGG	0.398																																					p.K402X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.A1204T	19						.						123.0	119.0	120.0					19																	37643432		2203	4300	6503	42335272	SO:0001587	stop_gained	199704	exon6			AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.1369A>T	19.37:g.37643432T>A	ENSP00000349440:p.Lys457*		42335272	NM_199126	Q8TE95|Q96MV3	Nonsense_Mutation	SNP	ENST00000356958.4	37		.	.	.	.	.	.	.	.	.	.	T	36	5.967691	0.97156	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157	.	.	.	2.72	-1.47	0.08772	.	0.000000	0.39759	N	0.001279	.	.	.	.	.	.	0.30202	N	0.798566	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	3.8235	0.08845	0.0:0.1498:0.4593:0.3909	.	.	.	.	X	457;402;402	.	ENSP00000292841:K402X	K	-	1	0	ZNF585A	42335272	0.003000	0.15002	0.186000	0.23195	0.654000	0.38779	0.002000	0.13061	-0.118000	0.11851	-0.441000	0.05720	AAA		0.398	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655	
SNIP1	79753	hgsc.bcm.edu	37	1	38006254	38006254	+	Missense_Mutation	SNP	G	G	A	rs143428642		TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr1:38006254G>A	ENST00000296215.6	-	3	502	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	144	Arg-rich.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R144W(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GAATGGCCCCGGTGTCTGTCC	0.607																																					p.R144W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C430T	1						.	G	TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	129.0	131.0	130.0		430	3.3	1.0	1	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SNIP1	NM_024700.2	101	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	probably-damaging	144/397	38006254	5,13001	2203	4300	6503	37778841	SO:0001583	missense	79753	exon3				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.430C>T	1.37:g.38006254G>A	ENSP00000296215:p.Arg144Trp		37778841	NM_024700	Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	CCDS419.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000786	0.54254	9.08E-4	1.16E-4	ENSG00000163877	ENST00000296215;ENST00000436196	T	0.15256	2.44	5.25	3.34	0.38264	.	0.401658	0.24638	N	0.036829	T	0.11707	0.0285	L	0.27053	0.805	0.58432	D	0.999992	B	0.22541	0.071	B	0.12156	0.007	T	0.07424	-1.0773	10	0.87932	D	0	-12.1472	8.5955	0.33712	0.0754:0.0:0.6288:0.2958	.	144	Q8TAD8	SNIP1_HUMAN	W	144;128	ENSP00000296215:R144W	ENSP00000296215:R144W	R	-	1	2	SNIP1	37778841	0.895000	0.30542	1.000000	0.80357	0.678000	0.39670	1.070000	0.30653	0.734000	0.32515	-0.150000	0.13652	CGG		0.607	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700	
MYBPHL	343263	hgsc.bcm.edu	37	1	109838960	109838960	+	Nonsense_Mutation	SNP	G	G	A	rs139849511		TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr1:109838960G>A	ENST00000357155.1	-	6	812	c.763C>T	c.(763-765)Cga>Tga	p.R255*	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	255								p.R255*(1)		central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GAGAAGTCTCGTTGGGCAAAC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		16565	0.0		0.001	False		,,,				2504	0.0				p.R255X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C763T	1						.	G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	101.0	102.0	102.0		763	0.8	1.0	1	dbSNP_134	102	8,8592	7.1+/-27.0	0,8,4292	yes	stop-gained	MYBPHL	NM_001010985.2		0,9,6494	AA,AG,GG		0.093,0.0227,0.0692		255/355	109838960	9,12997	2203	4300	6503	109640483	SO:0001587	stop_gained	343263	exon6			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.763C>T	1.37:g.109838960G>A	ENSP00000349678:p.Arg255*		109640483	NM_001010985	B7ZME5|Q5T2Z7	Nonsense_Mutation	SNP	ENST00000357155.1	37	CCDS30793.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.796650	0.96952	2.27E-4	9.3E-4	ENSG00000221986	ENST00000357155	.	.	.	5.01	0.756	0.18421	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	5.1758	0.15133	0.1678:0.0:0.5436:0.2886	.	.	.	.	X	255	.	ENSP00000349678:R255X	R	-	1	2	MYBPHL	109640483	0.083000	0.21467	0.978000	0.43139	0.899000	0.52679	0.629000	0.24538	0.667000	0.31107	0.561000	0.74099	CGA		0.552	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033197.1	NM_001010985	
LUZP2	338645	hgsc.bcm.edu	37	11	24998161	24998161	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr11:24998161C>A	ENST00000336930.6	+	8	613	c.547C>A	c.(547-549)Caa>Aaa	p.Q183K	LUZP2_ENST00000533227.1_Missense_Mutation_p.Q97K			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	183	Leucine-zipper.					extracellular region (GO:0005576)		p.Q183K(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGATCTGGAACAAAAATTAGC	0.353																																					p.Q183K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C547A	11						.						57.0	62.0	60.0					11																	24998161		2203	4299	6502	24954737	SO:0001583	missense	338645	exon8			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.547C>A	11.37:g.24998161C>A	ENSP00000336817:p.Gln183Lys		24954737	NM_001009909	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923206	0.52653	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	T;T;T	0.21191	2.02;2.02;2.02	5.15	5.15	0.70609	.	0.209268	0.40818	N	0.001019	T	0.15349	0.0370	L	0.27053	0.805	0.29049	N	0.884626	P;B	0.36633	0.562;0.122	B;B	0.31337	0.128;0.054	T	0.07271	-1.0781	10	0.33141	T	0.24	-2.3938	16.4555	0.84011	0.0:1.0:0.0:0.0	.	97;183	E9PN53;Q86TE4	.;LUZP2_HUMAN	K	183;141;97	ENSP00000336817:Q183K;ENSP00000437032:Q141K;ENSP00000432952:Q97K	ENSP00000336817:Q183K	Q	+	1	0	LUZP2	24954737	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.138000	0.58017	2.540000	0.85666	0.650000	0.86243	CAA		0.353	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909	
TP53	7157	hgsc.bcm.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				p.R273H	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,central_nervous_system,brain,Substitution - Missense,-1	.	669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	c.G818A	17	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	.						67.0	58.0	61.0					17																	7577120		2203	4300	6503	7517845	SO:0001583	missense	7157	exon8	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His		7517845	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
G6PC	2538	hgsc.bcm.edu	37	17	41062997	41062997	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr17:41062997T>G	ENST00000253801.2	+	5	707	c.628T>G	c.(628-630)Ttt>Gtt	p.F210V	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	210					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.F210V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CAAGAAATATTTTCTCATTAC	0.473																																					p.F210V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T628G	17						.						107.0	82.0	91.0					17																	41062997		2203	4300	6503	38316523	SO:0001583	missense	2538	exon5			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.628T>G	17.37:g.41062997T>G	ENSP00000253801:p.Phe210Val		38316523	NM_000151	A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	T	0.442	-0.898213	0.02472	.	.	ENSG00000131482	ENST00000253801	T	0.74526	-0.85	4.86	1.04	0.20106	.	0.312460	0.33772	N	0.004579	T	0.52240	0.1722	L	0.42245	1.32	0.29481	N	0.856338	B	0.02656	0.0	B	0.01281	0.0	T	0.30446	-0.9978	10	0.05525	T	0.97	.	0.6777	0.00869	0.2822:0.1385:0.1453:0.434	.	210	P35575	G6PC_HUMAN	V	210	ENSP00000253801:F210V	ENSP00000253801:F210V	F	+	1	0	G6PC	38316523	0.074000	0.21230	0.011000	0.14972	0.061000	0.15899	-0.064000	0.11636	0.310000	0.22990	-0.472000	0.04984	TTT		0.473	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151	
KRTAP19-5	337972	hgsc.bcm.edu	37	21	31874270	31874270	+	Missense_Mutation	SNP	C	C	T	rs201233367		TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr21:31874270C>T	ENST00000334151.2	-	1	165	c.139G>A	c.(139-141)Ggc>Agc	p.G47S		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	47						intermediate filament (GO:0005882)		p.G47S(1)		endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						AAGCCAGAGCCGTATCCGTAG	0.557													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17046	0.0		0.0	False		,,,				2504	0.0				p.G47S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G139A	21						.						124.0	119.0	121.0					21																	31874270		2203	4300	6503	30796141	SO:0001583	missense	337972	exon1			AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"""Keratin associated proteins"""	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.139G>A	21.37:g.31874270C>T	ENSP00000334985:p.Gly47Ser		30796141	NM_181611	A4IF22	Missense_Mutation	SNP	ENST00000334151.2	37	CCDS13597.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.75	2.031606	0.35797	.	.	ENSG00000186977	ENST00000334151	T	0.49432	0.78	5.04	5.04	0.67666	.	.	.	.	.	T	0.68805	0.3041	.	.	.	0.40318	D	0.978798	D	0.89917	1.0	D	0.97110	1.0	T	0.73827	-0.3860	8	0.87932	D	0	-0.3985	14.2426	0.65966	0.0:1.0:0.0:0.0	.	47	Q3LI72	KR195_HUMAN	S	47	ENSP00000334985:G47S	ENSP00000334985:G47S	G	-	1	0	KRTAP19-5	30796141	0.110000	0.22057	0.859000	0.33776	0.292000	0.27327	3.188000	0.50958	2.511000	0.84671	0.591000	0.81541	GGC		0.557	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2		
SENP7	57337	hgsc.bcm.edu	37	3	101066780	101066780	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr3:101066780C>T	ENST00000394095.2	-	13	1826	c.1773G>A	c.(1771-1773)tgG>tgA	p.W591*	SENP7_ENST00000348610.3_Nonsense_Mutation_p.W558*|SENP7_ENST00000358203.3_Nonsense_Mutation_p.W427*|SENP7_ENST00000394094.2_Nonsense_Mutation_p.W526*|SENP7_ENST00000394091.1_Nonsense_Mutation_p.W427*|SENP7_ENST00000314261.7_Nonsense_Mutation_p.W525*	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	591						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.W525*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGAAGAGACCCAGAAGAAAA	0.348																																					p.W591X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1773A	3						.						110.0	115.0	114.0					3																	101066780		2203	4299	6502	102549470	SO:0001587	stop_gained	57337	exon13				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1773G>A	3.37:g.101066780C>T	ENSP00000377655:p.Trp591*		102549470	NM_020654	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Nonsense_Mutation	SNP	ENST00000394095.2	37	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	37	6.581088	0.97680	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	.	.	.	5.69	5.69	0.88448	.	0.162855	0.43260	D	0.000584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.463	18.593	0.91220	0.0:1.0:0.0:0.0	.	.	.	.	X	591;526;525;427;427;558	.	ENSP00000313624:W525X	W	-	3	0	SENP7	102549470	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	5.208000	0.65203	2.679000	0.91253	0.650000	0.86243	TGG		0.348	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	
TRAT1	50852	hgsc.bcm.edu	37	3	108572643	108572643	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr3:108572643C>A	ENST00000295756.6	+	6	710	c.480C>A	c.(478-480)agC>agA	p.S160R	TRAT1_ENST00000426646.1_Missense_Mutation_p.S123R	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	160					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.S160R(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CCCCAGAAAGCCAGGCAGTAG	0.433																																					p.S160R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C480A	3						.						88.0	89.0	88.0					3																	108572643		2203	4300	6503	110055333	SO:0001583	missense	50852	exon6			AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.480C>A	3.37:g.108572643C>A	ENSP00000295756:p.Ser160Arg		110055333	NM_016388	Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494798	0.26774	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.32988	1.43;1.43	5.85	2.97	0.34412	.	0.794310	0.12132	N	0.496692	T	0.28466	0.0704	L	0.47716	1.5	0.09310	N	1	B;B	0.23806	0.091;0.051	B;B	0.21151	0.018;0.033	T	0.21552	-1.0242	10	0.66056	D	0.02	-3.4942	10.7374	0.46133	0.0:0.683:0.2438:0.0732	.	123;160	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	R	160;123	ENSP00000295756:S160R;ENSP00000410097:S123R	ENSP00000295756:S160R	S	+	3	2	TRAT1	110055333	0.000000	0.05858	0.179000	0.23059	0.006000	0.05464	-0.167000	0.09940	0.385000	0.24970	-0.797000	0.03246	AGC		0.433	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388	
SOX5	6660	hgsc.bcm.edu	37	12	23998927	23998927	+	Silent	SNP	G	G	A	rs149450279		TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr12:23998927G>A	ENST00000451604.2	-	3	572	c.471C>T	c.(469-471)aaC>aaT	p.N157N	SOX5_ENST00000309359.1_Silent_p.N144N|SOX5_ENST00000545921.1_Silent_p.N147N|SOX5_ENST00000441133.2_Silent_p.N122N|SOX5_ENST00000541847.1_Silent_p.N147N|SOX5_ENST00000537393.1_Silent_p.N122N|SOX5_ENST00000546136.1_Silent_p.N144N|SOX5_ENST00000541536.1_Silent_p.N144N|SOX5_ENST00000381381.2_Silent_p.N144N			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	157					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N157N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTCCGGCTCGTTTTTGATGA	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17504	0.0		0.0	False		,,,				2504	0.0				p.N144N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C432T	12						.	G	,	0,4406		0,0,2203	105.0	96.0	99.0		471,432	-3.0	1.0	12	dbSNP_134	99	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous,coding-synonymous	SOX5	NM_006940.4,NM_152989.2	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	157/764,144/751	23998927	2,13004	2203	4300	6503	23890194	SO:0001819	synonymous_variant	6660	exon6			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.471C>T	12.37:g.23998927G>A			23890194	NM_152989	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Silent	SNP	ENST00000451604.2	37	CCDS8699.1																																																																																				0.403	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	
LRRK2	120892	hgsc.bcm.edu	37	12	40702947	40702947	+	Missense_Mutation	SNP	C	C	T	rs72546327	byFrequency	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr12:40702947C>T	ENST00000298910.7	+	30	4287	c.4229C>T	c.(4228-4230)aCg>aTg	p.T1410M		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1410	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.T1410M(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CATTTTATGACGCAGCGAGCA	0.393													C|||	32	0.00638978	0.0234	0.0014	5008	,	,		15992	0.0		0.0	False		,,,				2504	0.0				p.T1410M												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C4229T	12						.	C	MET/THR	108,4298	84.8+/-123.5	2,104,2097	96.0	91.0	93.0		4229	5.6	1.0	12	dbSNP_130	93	0,8600		0,0,4300	yes	missense	LRRK2	NM_198578.3	81	2,104,6397	TT,TC,CC		0.0,2.4512,0.8304	probably-damaging	1410/2528	40702947	108,12898	2203	4300	6503	38989214	SO:0001583	missense	120892	exon30			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4229C>T	12.37:g.40702947C>T	ENSP00000298910:p.Thr1410Met		38989214	NM_198578	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	13	0.005952380952380952	12	0.024390243902439025	1	0.0027624309392265192	0	0.0	0	0.0	C	22.2	4.257757	0.80246	0.024512	0.0	ENSG00000188906	ENST00000298910	T	0.68479	-0.33	5.63	5.63	0.86233	ROC GTPase (1);Small GTP-binding protein domain (1);Mitochondrial Rho-like (1);	0.051061	0.85682	D	0.000000	T	0.76779	0.4035	M	0.88640	2.97	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84414	0.0567	10	0.87932	D	0	.	19.6816	0.95965	0.0:1.0:0.0:0.0	.	1410;1410	Q17RV3;Q5S007	.;LRRK2_HUMAN	M	1410	ENSP00000298910:T1410M	ENSP00000298910:T1410M	T	+	2	0	LRRK2	38989214	1.000000	0.71417	0.986000	0.45419	0.982000	0.71751	5.450000	0.66626	2.654000	0.90174	0.655000	0.94253	ACG		0.393	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
EEA1	8411	hgsc.bcm.edu	37	12	93202867	93202867	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr12:93202867C>G	ENST00000322349.8	-	18	2529	c.2265G>C	c.(2263-2265)caG>caC	p.Q755H		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	755	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.Q755H(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTGTCTTTGCTGTTGTAGAT	0.368																																					p.Q755H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2265C	12						.						142.0	124.0	130.0					12																	93202867		2202	4299	6501	91726998	SO:0001583	missense	8411	exon18			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.2265G>C	12.37:g.93202867C>G	ENSP00000317955:p.Gln755His		91726998	NM_003566	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	7.986	0.752248	0.15778	.	.	ENSG00000102189	ENST00000322349	T	0.78707	-1.2	5.84	-0.0883	0.13674	.	0.291553	0.24258	N	0.040114	T	0.64011	0.2560	L	0.27053	0.805	0.33961	D	0.645579	B	0.29805	0.257	B	0.31495	0.131	T	0.62604	-0.6819	10	0.52906	T	0.07	.	11.2228	0.48866	0.0:0.5704:0.0:0.4296	.	755	Q15075	EEA1_HUMAN	H	755	ENSP00000317955:Q755H	ENSP00000317955:Q755H	Q	-	3	2	EEA1	91726998	0.880000	0.30214	0.009000	0.14445	0.021000	0.10359	-0.125000	0.10579	-0.299000	0.08909	-0.137000	0.14449	CAG		0.368	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566	
DAO	1610	hgsc.bcm.edu	37	12	109288126	109288126	+	Missense_Mutation	SNP	C	C	T	rs139166976	byFrequency	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr12:109288126C>T	ENST00000228476.3	+	7	799	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	DAO_ENST00000551281.1_Missense_Mutation_p.R133W	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	199					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)	p.R199W(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	GCAGCCAGGCCGGGGGCAGAT	0.542																																					p.R199W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C595T	12						.	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	53.0	43.0	46.0		595	4.6	1.0	12	dbSNP_134	46	5,8595	5.0+/-18.6	0,5,4295	yes	missense	DAO	NM_001917.4	101	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	probably-damaging	199/348	109288126	6,13000	2203	4300	6503	107812255	SO:0001583	missense	1610	exon7			D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.595C>T	12.37:g.109288126C>T	ENSP00000228476:p.Arg199Trp		107812255	NM_001917	B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248196	0.80024	2.27E-4	5.81E-4	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547768	T;T;T	0.62232	0.04;0.04;0.04	5.51	4.6	0.57074	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	D	0.84179	0.5415	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.88605	0.3152	10	0.87932	D	0	-9.4689	14.3396	0.66617	0.1497:0.8503:0.0:0.0	.	199;182	P14920;Q7Z312	OXDA_HUMAN;.	W	133;199;76	ENSP00000446853:R133W;ENSP00000228476:R199W;ENSP00000449967:R76W	ENSP00000228476:R199W	R	+	1	2	DAO	107812255	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.640000	0.54350	1.305000	0.44909	0.499000	0.49734	CGG		0.542	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1		
ALPK1	80216	hgsc.bcm.edu	37	4	113303597	113303597	+	Silent	SNP	G	G	A			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr4:113303597G>A	ENST00000458497.1	+	4	444	c.165G>A	c.(163-165)aaG>aaA	p.K55K	ALPK1_ENST00000177648.9_Silent_p.K55K|ALPK1_ENST00000504176.2_Intron	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	55							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K55K(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AGGAGGCAAAGGAAATGAAGT	0.507																																					p.K55K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G165A	4						.						83.0	74.0	77.0					4																	113303597		2203	4300	6503	113523046	SO:0001819	synonymous_variant	80216	exon4			AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.165G>A	4.37:g.113303597G>A			113523046	NM_025144	B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	ENST00000458497.1	37	CCDS3697.1																																																																																				0.507	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144	
FAM47B	170062	hgsc.bcm.edu	37	X	34961788	34961788	+	Silent	SNP	G	G	A	rs372840274		TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	Capture	.			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chrX:34961788G>A	ENST00000329357.5	+	1	876	c.840G>A	c.(838-840)gcG>gcA	p.A280A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	280	Pro-rich.							p.A280A(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ATACTGGAGCGTCCCATCTCT	0.627													G|||	3	0.000794702	0.0023	0.0	3775	,	,		10399	0.0		0.0	False		,,,				2504	0.0				p.A280A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G840A	X						.	G		4,3829		0,4,1627,571	58.0	55.0	56.0		840	1.0	0.0	X		56	0,6728		0,0,2428,1872	no	coding-synonymous	FAM47B	NM_152631.2		0,4,4055,2443	AA,AG,GG,G		0.0,0.1044,0.0379		280/646	34961788	4,10557	2202	4300	6502	34871709	SO:0001819	synonymous_variant	170062	exon1			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.840G>A	X.37:g.34961788G>A			34871709	NM_152631	Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	CCDS14236.1																																																																																				0.627	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631	
UPRT	139596	hgsc.bcm.edu	37	X	74494247	74494247	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chrX:74494247C>T	ENST00000373383.4	+	1	325	c.158C>T	c.(157-159)aCg>aTg	p.T53M	UPRT_ENST00000373379.1_Missense_Mutation_p.T53M|UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000530743.1_5'Flank	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	53					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T53M(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						ATTCTCCTCACGGGGTACGCC	0.642																																					p.T53M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C158T	X						.						38.0	33.0	35.0					X																	74494247		2203	4300	6503	74410972	SO:0001583	missense	139596	exon1			BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.158C>T	X.37:g.74494247C>T	ENSP00000362481:p.Thr53Met		74410972	NM_145052	Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Missense_Mutation	SNP	ENST00000373383.4	37	CCDS14429.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170408	0.57584	.	.	ENSG00000094841	ENST00000373383;ENST00000373379	.	.	.	4.88	1.98	0.26296	.	1.213670	0.05820	N	0.615621	T	0.31231	0.0790	N	0.14661	0.345	0.18873	N	0.999989	D;P;P	0.60575	0.988;0.726;0.726	P;B;B	0.50896	0.653;0.276;0.276	T	0.24905	-1.0147	9	0.44086	T	0.13	-5.5346	7.4856	0.27429	0.1737:0.4612:0.365:0.0	.	53;53;53	Q96BW1-2;A8KAF9;Q96BW1	.;.;UPP_HUMAN	M	53	.	ENSP00000362471:T53M	T	+	2	0	UPRT	74410972	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	-0.102000	0.10956	0.157000	0.19338	0.600000	0.82982	ACG		0.642	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052	
GPR112	139378	hgsc.bcm.edu	37	X	135482100	135482100	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chrX:135482100G>T	ENST00000394143.1	+	21	8691	c.8400G>T	c.(8398-8400)ttG>ttT	p.L2800F	GPR112_ENST00000394141.1_Missense_Mutation_p.L2595F|GPR112_ENST00000370652.1_Missense_Mutation_p.L2800F|GPR112_ENST00000412101.1_Missense_Mutation_p.L2595F|GPR112_ENST00000287534.4_Missense_Mutation_p.L2553F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2800					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L2800F(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATTCTTGGTTGTCATCATTTC	0.418																																					p.L2800F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G8400T	X						.						197.0	165.0	176.0					X																	135482100		2203	4300	6503	135309766	SO:0001583	missense	139378	exon21			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8400G>T	X.37:g.135482100G>T	ENSP00000377699:p.Leu2800Phe		135309766	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	7.759	0.705049	0.15172	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17	5.1	-4.59	0.03400	GPCR, family 2-like (1);	.	.	.	.	T	0.26774	0.0655	L	0.41961	1.31	0.09310	N	1	B;B	0.25955	0.138;0.099	B;B	0.36092	0.066;0.217	T	0.47005	-0.9150	9	0.59425	D	0.04	.	0.6659	0.00850	0.3015:0.1053:0.2675:0.3258	.	2595;2800	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	F	2800;2800;2595;2553;2595	ENSP00000377699:L2800F;ENSP00000359686:L2800F;ENSP00000416526:L2595F;ENSP00000287534:L2553F;ENSP00000377697:L2595F	ENSP00000287534:L2553F	L	+	3	2	GPR112	135309766	0.000000	0.05858	0.070000	0.20053	0.991000	0.79684	-1.044000	0.03532	-0.942000	0.03695	0.544000	0.68410	TTG		0.418	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
RNF149	284996	hgsc.bcm.edu	37	2	101898446	101898446	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr2:101898446C>T	ENST00000295317.3	-	6	1141	c.1034G>A	c.(1033-1035)aGt>aAt	p.S345N		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	345					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S345N(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TAAAGCTAGACTCAAATTTGC	0.493																																					p.S345N	Colon(25;331 612 6521 7355 31028)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1034A	2						.						139.0	129.0	132.0					2																	101898446		2203	4300	6503	101264878	SO:0001583	missense	284996	exon6			AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1034G>A	2.37:g.101898446C>T	ENSP00000295317:p.Ser345Asn		101264878	NM_173647	Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980925	0.53827	.	.	ENSG00000163162	ENST00000295317	T	0.08807	3.05	5.78	4.9	0.64082	.	0.761042	0.12864	N	0.432880	T	0.15609	0.0376	L	0.58101	1.795	0.38517	D	0.948612	P	0.49090	0.919	P	0.47015	0.534	T	0.04128	-1.0975	10	0.42905	T	0.14	.	14.4041	0.67071	0.0:0.9286:0.0:0.0714	.	345	Q8NC42	RN149_HUMAN	N	345	ENSP00000295317:S345N	ENSP00000295317:S345N	S	-	2	0	RNF149	101264878	0.971000	0.33674	0.604000	0.28916	0.052000	0.14988	2.380000	0.44327	1.435000	0.47434	0.563000	0.77884	AGT		0.493	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647	
SLC19A3	80704	hgsc.bcm.edu	37	2	228552270	228552270	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr2:228552270T>C	ENST00000258403.3	-	6	1405	c.1334A>G	c.(1333-1335)tAt>tGt	p.Y445C	SLC19A3_ENST00000541617.1_Missense_Mutation_p.Y441C|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	445					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.Y445C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TACTGCAAAATAGCTCCCATA	0.348																																					p.Y445C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1334G	2						.						90.0	90.0	90.0					2																	228552270		2203	4300	6503	228260514	SO:0001583	missense	80704	exon6			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1334A>G	2.37:g.228552270T>C	ENSP00000258403:p.Tyr445Cys		228260514	NM_025243		Missense_Mutation	SNP	ENST00000258403.3	37	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.078409	0.55753	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	T;T	0.80393	-1.37;-1.37	5.65	4.46	0.54185	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.73962	2.25	0.80722	D	1	P;P	0.49696	0.817;0.927	P;P	0.49999	0.518;0.628	D	0.83661	0.0161	10	0.52906	T	0.07	-1.3984	11.881	0.52576	0.1308:0.0:0.0:0.8692	.	441;445	F5H2M8;Q9BZV2	.;S19A3_HUMAN	C	445;441	ENSP00000258403:Y445C;ENSP00000445519:Y441C	ENSP00000258403:Y445C	Y	-	2	0	SLC19A3	228260514	1.000000	0.71417	0.946000	0.38457	0.989000	0.77384	4.132000	0.57977	0.927000	0.37143	0.459000	0.35465	TAT		0.348	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1		
SLC24A2	25769	hgsc.bcm.edu	37	9	19786158	19786158	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr9:19786158C>A	ENST00000341998.2	-	1	768	c.707G>T	c.(706-708)tGg>tTg	p.W236L	SLC24A2_ENST00000286344.3_Missense_Mutation_p.W236L	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	236					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.W236L(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AAAGAGCGGCCACCATGTCAG	0.413																																					p.W236L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G707T	9						.						95.0	89.0	91.0					9																	19786158		2203	4300	6503	19776158	SO:0001583	missense	25769	exon2			AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.707G>T	9.37:g.19786158C>A	ENSP00000344801:p.Trp236Leu		19776158	NM_020344	B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891147	0.72524	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.62498	0.02;0.02	5.91	5.02	0.67125	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.81446	0.4824	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.84486	0.0608	9	.	.	.	.	15.0355	0.71744	0.0:0.9321:0.0:0.0679	.	236;236	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	L	236	ENSP00000344801:W236L;ENSP00000286344:W236L	.	W	-	2	0	SLC24A2	19776158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	1.508000	0.48769	0.655000	0.94253	TGG		0.413	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344	
TRPC4	7223	hgsc.bcm.edu	37	13	38211755	38211755	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr13:38211755T>C	ENST00000379705.3	-	11	3076	c.2219A>G	c.(2218-2220)aAg>aGg	p.K740R	TRPC4_ENST00000379679.1_Missense_Mutation_p.K567R|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379681.3_Missense_Mutation_p.K745R|TRPC4_ENST00000338947.5_Missense_Mutation_p.K567R|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379673.2_Missense_Mutation_p.K675R|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.K740R			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	740	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.K740R(1)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AATGTCTTGCTTTAGTTCCTA	0.358																																					p.K675R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2024G	13						.						30.0	32.0	31.0					13																	38211755		2140	4173	6313	37109755	SO:0001583	missense	7223	exon10			U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.2219A>G	13.37:g.38211755T>C	ENSP00000369027:p.Lys740Arg		37109755	NM_001135956	B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885483	0.72410	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000338947;ENST00000379679;ENST00000358477;ENST00000379673	D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.91317	0.7262	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.996;0.998;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.987;0.987;0.999;0.999	D	0.90201	0.4257	10	0.34782	T	0.22	-31.2988	16.2479	0.82454	0.0:0.0:0.0:1.0	.	675;745;567;740;740	Q9UBN4-4;Q9UBN4-5;Q9UBN4-6;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	R	740;745;567;567;740;675	ENSP00000369027:K740R;ENSP00000369003:K745R;ENSP00000342580:K567R;ENSP00000369001:K567R;ENSP00000351264:K740R;ENSP00000368995:K675R	ENSP00000342580:K567R	K	-	2	0	TRPC4	37109755	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.604000	0.82830	2.241000	0.73720	0.533000	0.62120	AAG		0.358	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306	
PCDH20	64881	hgsc.bcm.edu	37	13	61986223	61986223	+	Missense_Mutation	SNP	C	C	A	rs61749965	byFrequency	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr13:61986223C>A	ENST00000409186.1	-	5	4114	c.2009G>T	c.(2008-2010)cGa>cTa	p.R670L	PCDH20_ENST00000409204.4_Missense_Mutation_p.R670L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	670	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.R643L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CCATCCATTTCGTCCAGCGTC	0.453																																					p.R670L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2009T	13						.						92.0	90.0	91.0					13																	61986223		2203	4300	6503	60884224	SO:0001583	missense	64881	exon2			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2009G>T	13.37:g.61986223C>A	ENSP00000386653:p.Arg670Leu		60884224	NM_022843	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	8.913	0.959147	0.18507	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.49720	0.77;0.77	5.94	1.25	0.21368	.	0.527931	0.17356	N	0.177208	T	0.21631	0.0521	N	0.03016	-0.435	0.30030	N	0.813515	B	0.02656	0.0	B	0.11329	0.006	T	0.15521	-1.0434	10	0.30078	T	0.28	.	9.9412	0.41580	0.0:0.4186:0.0:0.5814	.	670	A8K1K9	.	L	670;670;416	ENSP00000387250:R670L;ENSP00000386653:R670L	ENSP00000351500:R416L	R	-	2	0	PCDH20	60884224	0.038000	0.19896	0.203000	0.23512	0.705000	0.40729	1.756000	0.38390	-0.080000	0.12685	-0.232000	0.12228	CGA		0.453	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
FLT4	2324	hgsc.bcm.edu	37	5	180036939	180036939	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454			SOLID	TCGA-AG-3578-01A-01W-0831-10	TCGA-AG-3578-10A-01W-0831-10	g.chr5:180036939A>T	ENST00000261937.6	-	28	3851	c.3773T>A	c.(3772-3774)tTc>tAc	p.F1258Y	FLT4_ENST00000393347.3_Missense_Mutation_p.F1258Y|FLT4_ENST00000502649.1_Missense_Mutation_p.F1258Y	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1258					blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F1258Y(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGTCATGGGGAATTCCTCAAA	0.602																																					p.F1258Y	Colon(97;1075 1466 27033 27547 35871)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T3773A	5						.						142.0	132.0	135.0					5																	180036939		2203	4300	6503	179969545	SO:0001583	missense	2324	exon28			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3773T>A	5.37:g.180036939A>T	ENSP00000261937:p.Phe1258Tyr		179969545	NM_182925	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.713179	0.48517	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	T;T;T	0.77489	-1.07;-1.1;-1.09	4.79	4.79	0.61399	.	.	.	.	.	T	0.68815	0.3042	L	0.41824	1.3	0.39048	D	0.960269	B;B	0.12630	0.003;0.006	B;B	0.13407	0.009;0.009	T	0.68409	-0.5416	9	0.56958	D	0.05	.	9.9614	0.41699	0.8486:0.0:0.0:0.1514	.	1258;1258	E9PD35;P35916	.;VGFR3_HUMAN	Y	1258	ENSP00000261937:F1258Y;ENSP00000377016:F1258Y;ENSP00000426057:F1258Y	ENSP00000261937:F1258Y	F	-	2	0	FLT4	179969545	1.000000	0.71417	0.998000	0.56505	0.709000	0.40893	5.367000	0.66127	1.938000	0.56188	0.459000	0.35465	TTC		0.602	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		
