#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	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
GNAT1	2779	hgsc.bcm.edu	37	3	50232277	50232277	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	SOLID			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr3:50232277G>C	ENST00000433068.1	+	8	998	c.942G>C	c.(940-942)gaG>gaC	p.E314D	GNAT1_ENST00000232461.3_Missense_Mutation_p.E314D	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	314					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.E314D(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ACGTGAAGGAGATCTATTCCC	0.567											OREG0015580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	3											101.0	81.0	88.0					3																	50232277		2203	4300	6503	50207281	SO:0001583	missense	2779				CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.942G>C	3.37:g.50232277G>C	ENSP00000387555:p.Glu314Asp	968	50207281	Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407333	0.83230	.	.	ENSG00000114349	ENST00000232461;ENST00000433068	D;D	0.88896	-2.44;-2.44	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.92668	0.7670	M	0.66560	2.04	0.53005	D	0.999962	D	0.63046	0.992	D	0.75020	0.985	D	0.92708	0.6180	10	0.59425	D	0.04	.	11.1405	0.48400	0.0912:0.0:0.9088:0.0	.	314	P11488	GNAT1_HUMAN	D	314	ENSP00000232461:E314D;ENSP00000387555:E314D	ENSP00000232461:E314D	E	+	3	2	GNAT1	50207281	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.882000	0.28186	2.243000	0.73865	0.491000	0.48974	GAG		0.567	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1	NM_000172	
DST	667	hgsc.bcm.edu	37	6	56425125	56425125	+	Frame_Shift_Del	DEL	C	C	-			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr6:56425125delC	ENST00000361203.3	-	54	13781	c.13774delG	c.(13774-13776)gccfs	p.A4592fs	DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Frame_Shift_Del_p.A2180fs|DST_ENST00000370788.2_Frame_Shift_Del_p.A2506fs|DST_ENST00000421834.2_Frame_Shift_Del_p.A2506fs|DST_ENST00000370769.4_Frame_Shift_Del_p.A4594fs|DST_ENST00000370754.5_Frame_Shift_Del_p.A4772fs|DST_ENST00000446842.2_Frame_Shift_Del_p.A4268fs			Q03001	DYST_HUMAN	dystonin	4592					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.A4594fs*8(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATCTGGGGGCCTCAGGAGTA	0.398																																																1	Deletion - Frameshift(1)	ovary(1)	6											95.0	93.0	93.0					6																	56425125		1861	4095	5956	56533084	SO:0001589	frameshift_variant	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13774delG	6.37:g.56425125delC	ENSP00000354508:p.Ala4592fs		56533084	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000361203.3	37																																																																																					0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
FBLN1	2192	hgsc.bcm.edu	37	22	45938104	45938118	+	In_Frame_Del	DEL	GTTTCCGCTGCGAAT	GTTTCCGCTGCGAAT	-	rs370157465|rs371901304|rs142302254		TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	GTTTCCGCTGCGAAT	GTTTCCGCTGCGAAT	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr22:45938104_45938118delGTTTCCGCTGCGAAT	ENST00000327858.6	+	10	1231_1245	c.1136_1150delGTTTCCGCTGCGAAT	c.(1135-1152)agtttccgctgcgaatgc>agc	p.FRCEC380del	FBLN1_ENST00000262722.7_In_Frame_Del_p.FRCEC380del|FBLN1_ENST00000340923.5_In_Frame_Del_p.FRCEC380del|FBLN1_ENST00000348697.2_In_Frame_Del_p.FRCEC380del|FBLN1_ENST00000402984.3_In_Frame_Del_p.FRCEC418del|FBLN1_ENST00000442170.2_In_Frame_Del_p.FRCEC380del|FBLN1_ENST00000476366.1_3'UTR	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	380	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.|Self-association and FN1-binding; calcium is necessary for homotypic binding, but not for heterotypic binding.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)	p.F380_C384delFRCEC(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTCCCGGCAGTTTCCGCTGCGAATGCAAGACGGG	0.609																																																1	Deletion - In frame(1)	ovary(1)	22																																								44316782	SO:0001651	inframe_deletion	2192				CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1136_1150delGTTTCCGCTGCGAAT	22.37:g.45938104_45938118delGTTTCCGCTGCGAAT	ENSP00000331544:p.Phe380_Cys384del		44316768	B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	In_Frame_Del	DEL	ENST00000327858.6	37	CCDS14067.1																																																																																				0.609	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486	
PRB1	5542	hgsc.bcm.edu	37	12	11506403	11506403	+	Intron	SNP	A	A	G	rs113897264	byFrequency	TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr12:11506403A>G	ENST00000500254.2	-	4	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGATTGGGAACTTCGGGAC	0.622													a|||	1180	0.235623	0.1762	0.1801	5008	,	,		10779	0.3363		0.174	False		,,,				2504	0.3149															0			12											11.0	7.0	8.0					12																	11506403		970	1876	2846	11397670	SO:0001627	intron_variant	5542				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.314-79T>C	12.37:g.11506403A>G			11397670	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Missense_Mutation	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																				0.622	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039	
ANO6	196527	hgsc.bcm.edu	37	12	45810569	45810569	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr12:45810569G>C	ENST00000320560.8	+	17	2301	c.2099G>C	c.(2098-2100)aGa>aCa	p.R700T	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.R700T|ANO6_ENST00000435642.1_Missense_Mutation_p.R700T|ANO6_ENST00000441606.2_Missense_Mutation_p.R682T|ANO6_ENST00000423947.3_Missense_Mutation_p.R721T	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	700					activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.R700T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGGAAATAAGAGTGGACGCA	0.468																																																1	Substitution - Missense(1)	ovary(1)	12											130.0	111.0	118.0					12																	45810569		2203	4300	6503	44096836	SO:0001583	missense	196527			AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.2099G>C	12.37:g.45810569G>C	ENSP00000320087:p.Arg700Thr		44096836	A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Missense_Mutation	SNP	ENST00000320560.8	37	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	33	5.238096	0.95240	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.88559	0.6469	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.998;0.999;1.0	D	0.91176	0.4972	10	0.87932	D	0	.	20.269	0.98464	0.0:0.0:1.0:0.0	.	682;721;700;700	E9PB30;B9EGG0;E9PCT2;Q4KMQ2	.;.;.;ANO6_HUMAN	T	700;721;700;700;682	ENSP00000391417:R700T;ENSP00000409126:R721T;ENSP00000413840:R700T;ENSP00000320087:R700T;ENSP00000413137:R682T	ENSP00000320087:R700T	R	+	2	0	ANO6	44096836	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	AGA		0.468	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	
APLP2	334	hgsc.bcm.edu	37	11	129993574	129993574	+	Silent	SNP	C	C	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr11:129993574C>G	ENST00000263574.5	+	7	1062	c.990C>G	c.(988-990)ctC>ctG	p.L330L	APLP2_ENST00000543137.1_Silent_p.L237L|APLP2_ENST00000528499.1_Intron|APLP2_ENST00000338167.5_Silent_p.L330L|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000278756.7_Silent_p.L340L|APLP2_ENST00000345598.5_Intron	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	330	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.L330L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ACTTCGACCTCTCCAAGGGAA	0.542																																																1	Substitution - coding silent(1)	ovary(1)	11											122.0	116.0	118.0					11																	129993574		2201	4297	6498	129498784	SO:0001819	synonymous_variant	334			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.990C>G	11.37:g.129993574C>G			129498784	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Silent	SNP	ENST00000263574.5	37	CCDS8486.1																																																																																				0.542	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386109.1	NM_001642	
ARRDC3	57561	hgsc.bcm.edu	37	5	90671339	90671339	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr5:90671339C>G	ENST00000265138.3	-	4	868	c.602G>C	c.(601-603)gGc>gCc	p.G201A	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	201					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)	p.G201A(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TGGGGTATAGCCCTTCCTTTC	0.368																																																1	Substitution - Missense(1)	ovary(1)	5											108.0	114.0	112.0					5																	90671339		2203	4300	6503	90707095	SO:0001583	missense	57561			AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.602G>C	5.37:g.90671339C>G	ENSP00000265138:p.Gly201Ala		90707095	A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	C	32	5.128880	0.94473	.	.	ENSG00000113369	ENST00000265138	T	0.16743	2.32	5.51	5.51	0.81932	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.28554	-1.0040	10	0.48119	T	0.1	-28.0432	19.4092	0.94662	0.0:1.0:0.0:0.0	.	201	Q96B67	ARRD3_HUMAN	A	201	ENSP00000265138:G201A	ENSP00000265138:G201A	G	-	2	0	ARRDC3	90707095	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.484000	0.81180	2.591000	0.87537	0.591000	0.81541	GGC		0.368	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801	
ARSG	22901	hgsc.bcm.edu	37	17	66381226	66381226	+	Missense_Mutation	SNP	C	C	G	rs147264809		TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr17:66381226C>G	ENST00000448504.2	+	9	1800	c.1004C>G	c.(1003-1005)aCg>aGg	p.T335R	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Missense_Mutation_p.T171R	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	335					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.T335R(1)		NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCCAAGCAGACGACCTGGGAA	0.552																																																1	Substitution - Missense(1)	ovary(1)	17											74.0	74.0	74.0					17																	66381226		2203	4300	6503	63892821	SO:0001583	missense	22901			AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1004C>G	17.37:g.66381226C>G	ENSP00000407193:p.Thr335Arg		63892821	Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008752	0.93346	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.64	5.64	0.86602	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.109289	0.64402	D	0.000006	D	0.83825	0.5338	M	0.83012	2.62	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.85588	0.1244	9	0.72032	D	0.01	.	18.4841	0.90823	0.0:1.0:0.0:0.0	.	335	Q96EG1	ARSG_HUMAN	R	335;234	.	ENSP00000407193:T234R	T	+	2	0	ARSG	63892821	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.787000	0.69013	2.652000	0.90054	0.655000	0.94253	ACG		0.552	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960	
CCDC67	159989	hgsc.bcm.edu	37	11	93104410	93104410	+	Silent	SNP	C	C	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr11:93104410C>T	ENST00000298050.3	+	7	853	c.753C>T	c.(751-753)ctC>ctT	p.L251L		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	251					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)		p.L243L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ATCAGAAGCTCTTGCAAGAAC	0.308																																																1	Substitution - coding silent(1)	ovary(1)	11											55.0	52.0	53.0					11																	93104410		1827	4078	5905	92744058	SO:0001819	synonymous_variant	159989			AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.753C>T	11.37:g.93104410C>T			92744058	Q8NEF1|Q96LL7	Silent	SNP	ENST00000298050.3	37	CCDS44707.1																																																																																				0.308	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645	
CD200R1	131450	hgsc.bcm.edu	37	3	112647781	112647781	+	Silent	SNP	G	G	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr3:112647781G>A	ENST00000471858.1	-	4	814	c.582C>T	c.(580-582)agC>agT	p.S194S	CD200R1_ENST00000490004.1_3'UTR|CD200R1_ENST00000440122.2_3'UTR|CD200R1_ENST00000308611.3_Silent_p.S217S|CD200R1_ENST00000295863.4_Silent_p.S172S	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	194	Ig-like C2-type.				regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.S217S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CTGTGCCATTGCTCCAGTATT	0.522																																																1	Substitution - coding silent(1)	ovary(1)	3											135.0	108.0	117.0					3																	112647781		2203	4300	6503	114130471	SO:0001819	synonymous_variant	131450			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.582C>T	3.37:g.112647781G>A			114130471	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Silent	SNP	ENST00000471858.1	37	CCDS2970.1																																																																																				0.522	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354467.1	NM_138806	
CYTH1	9267	hgsc.bcm.edu	37	17	76672214	76672214	+	Missense_Mutation	SNP	C	C	T	rs376898813		TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr17:76672214C>T	ENST00000446868.3	-	14	1226	c.1156G>A	c.(1156-1158)Gca>Aca	p.A386T	CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000361101.4_Missense_Mutation_p.A386T|CYTH1_ENST00000589297.1_Missense_Mutation_p.A327T|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Missense_Mutation_p.A385T|CYTH1_ENST00000585509.1_Missense_Mutation_p.A327T			Q15438	CYH1_HUMAN	cytohesin 1	386					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)	p.A386T(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TTCCGTGCTGCGAGCATTTCG	0.572																																																1	Substitution - Missense(1)	ovary(1)	17						C	THR/ALA,THR/ALA	2,4404	2.1+/-5.4	0,2,2201	87.0	64.0	72.0		1156,1153	5.1	0.6	17		72	0,8600		0,0,4300	no	missense,missense	CYTH1	NM_004762.2,NM_017456.2	58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	386/399,385/398	76672214	2,13004	2203	4300	6503	74183809	SO:0001583	missense	9267			M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.1156G>A	17.37:g.76672214C>T	ENSP00000389095:p.Ala386Thr		74183809	A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37		.	.	.	.	.	.	.	.	.	.	C	24.2	4.503616	0.85176	4.54E-4	0.0	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048;ENST00000262763	T;T	0.13307	2.6;2.6	5.08	5.08	0.68730	.	0.116119	0.56097	D	0.000022	T	0.20495	0.0493	M	0.79475	2.455	0.80722	D	1	B	0.31931	0.347	B	0.22386	0.039	T	0.04294	-1.0962	10	0.56958	D	0.05	.	18.4292	0.90619	0.0:1.0:0.0:0.0	.	385	Q15438-2	.	T	386;386;327;327;385	ENSP00000389095:A386T;ENSP00000354398:A386T	ENSP00000262763:A385T	A	-	1	0	CYTH1	74183809	1.000000	0.71417	0.559000	0.28332	0.971000	0.66376	7.659000	0.83766	2.521000	0.84997	0.591000	0.81541	GCA		0.572	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762	
DNAH7	56171	hgsc.bcm.edu	37	2	196737142	196737142	+	Silent	SNP	G	G	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr2:196737142G>T	ENST00000312428.6	-	40	6565	c.6465C>A	c.(6463-6465)ggC>ggA	p.G2155G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2155	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.G2155G(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAGTCATTGTGCCATTTACGA	0.323																																																1	Substitution - coding silent(1)	ovary(1)	2											168.0	150.0	156.0					2																	196737142		1828	4085	5913	196445387	SO:0001819	synonymous_variant	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6465C>A	2.37:g.196737142G>T			196445387	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	CCDS42794.1																																																																																				0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
EZR	7430	hgsc.bcm.edu	37	6	159206613	159206613	+	Silent	SNP	C	C	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr6:159206613C>A	ENST00000367075.3	-	5	363	c.195G>T	c.(193-195)gtG>gtT	p.V65V	EZR_ENST00000476189.1_5'UTR|EZR_ENST00000392177.4_Silent_p.V33V|EZR_ENST00000337147.7_Silent_p.V65V	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	65	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)	p.V65V(1)	EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CCTGGGCAGACACCTGCACGA	0.562			T	ROS1	NSCLC																																		Dom	yes		6	6q25.3	7430	ezrin		E	1	Substitution - coding silent(1)	ovary(1)	6											41.0	40.0	40.0					6																	159206613		2203	4300	6503	159126601	SO:0001819	synonymous_variant	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.195G>T	6.37:g.159206613C>A			159126601	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Silent	SNP	ENST00000367075.3	37	CCDS5258.1																																																																																				0.562	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1	NM_003379	
FAM24A	118670	hgsc.bcm.edu	37	10	124672470	124672470	+	Nonstop_Mutation	SNP	A	A	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr10:124672470A>T	ENST00000368894.1	+	3	439	c.318A>T	c.(316-318)tgA>tgT	p.*106C		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	0						extracellular region (GO:0005576)		p.*106C(1)		large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		AGGGCCTCTGACTTGGGAAAG	0.398																																																1	Nonstop extension(1)	ovary(1)	10											87.0	70.0	75.0					10																	124672470		2203	4300	6503	124662460	SO:0001578	stop_lost	118670				CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.318A>T	10.37:g.124672470A>T	ENSP00000357889:p.*106Cysext*35		124662460		Missense_Mutation	SNP	ENST00000368894.1	37	CCDS31304.1	.	.	.	.	.	.	.	.	.	.	A	8.496	0.863227	0.17250	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.57	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.8287	0.35072	1.0:0.0:0.0:0.0	.	.	.	.	C	106	.	.	X	+	3	0	FAM24A	124662460	0.941000	0.31946	0.126000	0.21872	0.113000	0.19764	3.345000	0.52182	1.864000	0.54056	0.459000	0.35465	TGA		0.398	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050824.1	XM_058332	
HDAC4	9759	hgsc.bcm.edu	37	2	240024584	240024584	+	Silent	SNP	G	G	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr2:240024584G>A	ENST00000345617.3	-	16	2897	c.2106C>T	c.(2104-2106)cgC>cgT	p.R702R	HDAC4_ENST00000543185.1_Silent_p.R286R|HDAC4_ENST00000541256.1_Silent_p.R676R	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	702	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R702R(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCTTGCGTCCGCGGATGCACT	0.587																																																1	Substitution - coding silent(1)	ovary(1)	2											116.0	93.0	101.0					2																	240024584		2203	4300	6503	239689521	SO:0001819	synonymous_variant	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2106C>T	2.37:g.240024584G>A			239689521	Q9UND6	Silent	SNP	ENST00000345617.3	37	CCDS2529.1																																																																																				0.587	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	
HPS3	84343	hgsc.bcm.edu	37	3	148885739	148885739	+	Silent	SNP	G	G	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr3:148885739G>A	ENST00000296051.2	+	16	2996	c.2856G>A	c.(2854-2856)gaG>gaA	p.E952E	HPS3_ENST00000460120.1_Silent_p.E787E	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	952					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.E952E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGGTGGAGAGAAGTATCAAC	0.299									Hermansky-Pudlak syndrome																																							1	Substitution - coding silent(1)	ovary(1)	3											98.0	104.0	102.0					3																	148885739		2203	4298	6501	150368429	SO:0001819	synonymous_variant	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2856G>A	3.37:g.148885739G>A			150368429	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	CCDS3140.1																																																																																				0.299	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	
NYNRIN	57523	hgsc.bcm.edu	37	14	24879216	24879216	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr14:24879216T>G	ENST00000382554.3	+	4	2534	c.2216T>G	c.(2215-2217)tTt>tGt	p.F739C		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	739					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.F739C(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AAGCACCAGTTTCAGATGGAG	0.632																																																1	Substitution - Missense(1)	ovary(1)	14											21.0	24.0	23.0					14																	24879216		1940	4117	6057	23949056	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2216T>G	14.37:g.24879216T>G	ENSP00000371994:p.Phe739Cys		23949056	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	T	10.19	1.282925	0.23392	.	.	ENSG00000205978	ENST00000382554	T	0.10477	2.87	4.75	-3.36	0.04913	.	.	.	.	.	T	0.04679	0.0127	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40079	-0.9582	9	0.44086	T	0.13	.	1.5242	0.02522	0.1342:0.4381:0.1337:0.2939	.	739	Q9P2P1	NYNRI_HUMAN	C	739	ENSP00000371994:F739C	ENSP00000371994:F739C	F	+	2	0	NYNRIN	23949056	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.193000	0.17116	-0.336000	0.08438	-0.899000	0.02877	TTT		0.632	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1		
MUC19	283463	hgsc.bcm.edu	37	12	40821802	40821802	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr12:40821802G>A	ENST00000454784.4	+	13	1284	c.551G>A	c.(550-552)gGa>gAa	p.G184E	RP11-115F18.1_ENST00000552757.1_RNA			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric	184					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						GGAGAGAAAGGAAAATGTGTA	0.413																																																0			12																																								39108069	SO:0001583	missense	283463			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000454784.4:c.551G>A	12.37:g.40821802G>A	ENSP00000476404:p.Gly184Glu		39108069	Q8NA85	Missense_Mutation	SNP	ENST00000454784.4	37		.	.	.	.	.	.	.	.	.	.	G	18.09	3.547236	0.65311	.	.	ENSG00000205592	ENST00000425730	.	.	.	5.89	3.86	0.44501	.	.	.	.	.	T	0.42471	0.1204	L	0.52823	1.66	0.29298	N	0.868882	.	.	.	.	.	.	T	0.36720	-0.9736	6	0.34782	T	0.22	.	7.0981	0.25321	0.0748:0.119:0.6692:0.1371	.	.	.	.	E	413	.	ENSP00000395253:G413E	G	+	2	0	MUC19	39108069	0.987000	0.35691	0.988000	0.46212	0.951000	0.60555	1.853000	0.39358	1.467000	0.48044	0.591000	0.81541	GGA		0.413	MUC19-001	NOVEL	non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000384257.6	XM_003403524	
NOD1	10392	hgsc.bcm.edu	37	7	30487962	30487962	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr7:30487962T>G	ENST00000222823.4	-	7	2762	c.2237A>C	c.(2236-2238)aAg>aCg	p.K746T		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	746					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.K746T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCTTAGCACCTTTACCCCACC	0.423																																																1	Substitution - Missense(1)	ovary(1)	7											168.0	156.0	160.0					7																	30487962		2203	4300	6503	30454487	SO:0001583	missense	10392			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2237A>C	7.37:g.30487962T>G	ENSP00000222823:p.Lys746Thr		30454487	B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.394943	0.25205	.	.	ENSG00000106100	ENST00000222823	T	0.53857	0.6	5.61	4.45	0.53987	.	0.136010	0.64402	D	0.000003	T	0.39410	0.1077	L	0.31207	0.915	0.80722	D	1	P	0.35793	0.521	B	0.38378	0.272	T	0.21075	-1.0256	10	0.29301	T	0.29	.	8.9036	0.35510	0.0:0.146:0.0:0.854	.	746	Q9Y239	NOD1_HUMAN	T	746	ENSP00000222823:K746T	ENSP00000222823:K746T	K	-	2	0	NOD1	30454487	1.000000	0.71417	0.999000	0.59377	0.023000	0.10783	4.405000	0.59741	2.142000	0.66516	0.533000	0.62120	AAG		0.423	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2		
NPAS3	64067	hgsc.bcm.edu	37	14	33684437	33684437	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr14:33684437C>T	ENST00000356141.4	+	3	190	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000551492.1_Missense_Mutation_p.R71W|NPAS3_ENST00000346562.2_Missense_Mutation_p.R34W|NPAS3_ENST00000548645.1_Missense_Mutation_p.R34W|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000341321.4_Missense_Mutation_p.R64W|NPAS3_ENST00000357798.5_Missense_Mutation_p.R34W			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	64	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.R34W(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TCGCTCCCGCCGGGGAAAAGA	0.458																																																1	Substitution - Missense(1)	ovary(1)	14											64.0	70.0	68.0					14																	33684437		2203	4300	6503	32754188	SO:0001583	missense	64067			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.190C>T	14.37:g.33684437C>T	ENSP00000348460:p.Arg64Trp		32754188	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	CCDS53891.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544839	0.86022	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000341321;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;D;T;T;T	0.99232	0.74;0.15;0.31;-5.6;0.64;0.55;0.78	5.96	5.05	0.67936	Helix-loop-helix DNA-binding (4);	0.000000	0.64402	D	0.000011	D	0.99354	0.9773	M	0.77406	2.37	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98877	1.0768	10	0.87932	D	0	.	16.4171	0.83745	0.1325:0.8675:0.0:0.0	.	34;64;34;34	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	W	41;71;34;64;34;64;34	ENSP00000448373:R41W;ENSP00000450392:R71W;ENSP00000319610:R34W;ENSP00000344158:R64W;ENSP00000448916:R34W;ENSP00000348460:R64W;ENSP00000350446:R34W	ENSP00000344158:R64W	R	+	1	2	NPAS3	32754188	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.007000	0.57093	1.476000	0.48215	0.655000	0.94253	CGG		0.458	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1		
SCN5A	6331	hgsc.bcm.edu	37	3	38651337	38651337	+	Silent	SNP	G	G	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr3:38651337G>T	ENST00000333535.4	-	7	971	c.822C>A	c.(820-822)ggC>ggA	p.G274G	SCN5A_ENST00000451551.2_Silent_p.G274G|SCN5A_ENST00000413689.1_Silent_p.G274G|SCN5A_ENST00000423572.2_Silent_p.G274G|SCN5A_ENST00000455624.2_Silent_p.G274G|SCN5A_ENST00000449557.2_Silent_p.G274G|SCN5A_ENST00000414099.2_Silent_p.G274G|SCN5A_ENST00000443581.1_Silent_p.G274G|SCN5A_ENST00000425664.1_Silent_p.G274G|SCN5A_ENST00000450102.2_Silent_p.G274G			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	274					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.G274G(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCCTTAGGTTGCCCATGAAGA	0.597																																																1	Substitution - coding silent(1)	ovary(1)	3											79.0	85.0	83.0					3																	38651337		2187	4289	6476	38626341	SO:0001819	synonymous_variant	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.822C>A	3.37:g.38651337G>T			38626341	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	CCDS46796.1																																																																																				0.597	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
ZFYVE28	57732	hgsc.bcm.edu	37	4	2275014	2275014	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr4:2275014C>A	ENST00000290974.2	-	10	2548	c.2209G>T	c.(2209-2211)Gtg>Ttg	p.V737L	ZFYVE28_ENST00000508471.1_Missense_Mutation_p.V42L|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.V707L|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.V667L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	737					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.V737L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TGGTCAGCCACACCTGAGGAA	0.557																																																1	Substitution - Missense(1)	ovary(1)	4											119.0	122.0	121.0					4																	2275014		2203	4300	6503	2244812	SO:0001583	missense	57732			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2209G>T	4.37:g.2275014C>A	ENSP00000290974:p.Val737Leu		2244812	B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	ENST00000290974.2	37	CCDS33942.1	.	.	.	.	.	.	.	.	.	.	C	16.85	3.237473	0.58886	.	.	ENSG00000159733	ENST00000508471;ENST00000290974;ENST00000511071;ENST00000515312	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.17	4.17	0.49024	.	0.138437	0.48286	N	0.000192	T	0.63034	0.2477	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.83275	0.996;0.978	T	0.65763	-0.6089	10	0.46703	T	0.11	.	13.9863	0.64337	0.0:1.0:0.0:0.0	.	707;737	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	L	42;737;707;667	ENSP00000427654:V42L;ENSP00000290974:V737L;ENSP00000425706:V707L;ENSP00000426299:V667L	ENSP00000290974:V737L	V	-	1	0	ZFYVE28	2244812	1.000000	0.71417	0.996000	0.52242	0.774000	0.43823	5.377000	0.66184	1.884000	0.54569	0.555000	0.69702	GTG		0.557	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	XM_035371	
ZMAT5	55954	hgsc.bcm.edu	37	22	30134344	30134344	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr22:30134344G>A	ENST00000344318.3	-	5	474	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	ZMAT5_ENST00000397781.3_Missense_Mutation_p.R120W	NM_001003692.1	NP_001003692.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	120					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	zinc ion binding (GO:0008270)	p.R120W(2)		large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			GAGCTCAGCCGCTTGGCTCTC	0.667																																																2	Substitution - Missense(2)	ovary(2)	22											72.0	63.0	66.0					22																	30134344		2203	4300	6503	28464344	SO:0001583	missense	55954				CCDS13868.1	22q12.2	2013-09-20	2010-09-15		ENSG00000100319	ENSG00000100319		"""Zinc fingers, matrin-type"""	28046	protein-coding gene	gene with protein product	"""U11/U12 snRNP 20K"""					9847074	Standard	NM_019103		Approved	SNRNP20	uc003agn.3	Q9UDW3	OTTHUMG00000151292	ENST00000344318.3:c.358C>T	22.37:g.30134344G>A	ENSP00000344241:p.Arg120Trp		28464344	A8K9F6	Missense_Mutation	SNP	ENST00000344318.3	37	CCDS13868.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816252	0.70912	.	.	ENSG00000100319	ENST00000344318;ENST00000397781	.	.	.	5.16	1.8	0.24995	.	0.294509	0.37178	N	0.002220	T	0.52041	0.1710	L	0.56769	1.78	0.40804	D	0.983368	D	0.76494	0.999	P	0.50490	0.642	T	0.53005	-0.8499	9	0.87932	D	0	-30.5992	6.6706	0.23066	0.0856:0.0:0.416:0.4984	.	120	Q9UDW3	ZMAT5_HUMAN	W	120	.	ENSP00000344241:R120W	R	-	1	2	ZMAT5	28464344	0.996000	0.38824	0.999000	0.59377	0.956000	0.61745	0.933000	0.28897	0.281000	0.22233	0.505000	0.49811	CGG		0.667	ZMAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322114.1	NM_019103	
CCDC80	151887	hgsc.bcm.edu	37	3	112356988	112356988	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr3:112356988C>T	ENST00000206423.3	-	2	2718	c.1765G>A	c.(1765-1767)Ggt>Agt	p.G589S	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.G589S	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	589	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.G589S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCTGTTTTACCTCCTtttttc	0.443																																																1	Substitution - Missense(1)	ovary(1)	3											244.0	224.0	231.0					3																	112356988		2203	4300	6503	113839678	SO:0001583	missense	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1765G>A	3.37:g.112356988C>T	ENSP00000206423:p.Gly589Ser		113839678	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	C	8.501	0.864207	0.17250	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.40476	1.03;1.03	5.26	3.34	0.38264	.	0.376195	0.30464	N	0.009564	T	0.19644	0.0472	N	0.14661	0.345	0.09310	N	1	B;B;B	0.18461	0.027;0.0;0.028	B;B;B	0.15052	0.012;0.001;0.008	T	0.20739	-1.0266	10	0.07482	T	0.82	-7.7153	7.1914	0.25828	0.0:0.7235:0.0:0.2765	.	600;589;589	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	S	589;589;217	ENSP00000206423:G589S;ENSP00000411814:G589S	ENSP00000206423:G589S	G	-	1	0	CCDC80	113839678	0.468000	0.25839	0.015000	0.15790	0.767000	0.43475	2.650000	0.46665	1.460000	0.47911	-0.263000	0.10527	GGT		0.443	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
TP53	7157	hgsc.bcm.edu	37	17	7579374	7579374	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr17:7579374C>T	ENST00000269305.4	-	4	502	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G105S|TP53_ENST00000420246.2_Missense_Mutation_p.G105S|TP53_ENST00000455263.2_Missense_Mutation_p.G105S|TP53_ENST00000359597.4_Missense_Mutation_p.G105S|TP53_ENST00000445888.2_Missense_Mutation_p.G105S	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	105	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)	CCGTAGCTGCCCTGGTAGGTT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	31	Deletion - Frameshift(12)|Substitution - Missense(8)|Whole gene deletion(8)|Complex - deletion inframe(2)|Deletion - In frame(1)	ovary(6)|lung(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|central_nervous_system(3)|liver(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	17	GRCh37	CM043949	TP53	M							55.0	55.0	55.0					17																	7579374		2203	4300	6503	7520099	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.313G>A	17.37:g.7579374C>T	ENSP00000269305:p.Gly105Ser		7520099	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	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246866	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.75	4.75	0.60458	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	0.99900	0.9952	M	0.90870	3.155	0.80722	D	1	D;P;D;D;P;P;D	0.89917	1.0;0.945;0.964;0.999;0.921;0.947;1.0	D;P;P;D;D;P;D	0.97110	1.0;0.739;0.831;0.999;0.953;0.894;1.0	D	0.96136	0.9096	10	0.72032	D	0.01	-24.4789	15.6419	0.77012	0.0:1.0:0.0:0.0	.	66;105;105;105;105;105;105	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	105	ENSP00000410739:G105S;ENSP00000352610:G105S;ENSP00000269305:G105S;ENSP00000398846:G105S;ENSP00000391127:G105S;ENSP00000391478:G105S;ENSP00000424104:G105S;ENSP00000426252:G105S	ENSP00000269305:G105S	G	-	1	0	TP53	7520099	1.000000	0.71417	0.206000	0.23566	0.368000	0.29767	6.208000	0.72165	2.630000	0.89119	0.655000	0.94253	GGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ADAMTS4	9507	hgsc.bcm.edu	37	1	161163824	161163824	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr1:161163824C>G	ENST00000367996.5	-	5	1877	c.1449G>C	c.(1447-1449)caG>caC	p.Q483H	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	483	Disintegrin.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.Q483H(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	AGTGTTTGGTCTGGCACATGG	0.662																																																1	Substitution - Missense(1)	ovary(1)	1											50.0	55.0	53.0					1																	161163824		2203	4299	6502	159430448	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1449G>C	1.37:g.161163824C>G	ENSP00000356975:p.Gln483His		159430448	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832829	0.32421	.	.	ENSG00000158859	ENST00000367996	T	0.03580	3.88	5.29	3.29	0.37713	.	0.000000	0.64402	D	0.000011	T	0.01454	0.0047	L	0.41632	1.29	0.80722	D	1	B	0.22146	0.065	B	0.25614	0.062	T	0.44436	-0.9328	10	0.32370	T	0.25	.	7.9115	0.29793	0.0:0.7329:0.0:0.2671	.	483	O75173	ATS4_HUMAN	H	483	ENSP00000356975:Q483H	ENSP00000356975:Q483H	Q	-	3	2	ADAMTS4	159430448	0.896000	0.30565	1.000000	0.80357	0.996000	0.88848	0.045000	0.14013	1.472000	0.48140	0.561000	0.74099	CAG		0.662	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099	
CCNT1	904	hgsc.bcm.edu	37	12	49093620	49093620	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr12:49093620A>C	ENST00000261900.3	-	5	659	c.437T>G	c.(436-438)tTt>tGt	p.F146C		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	146					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)	p.F146C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TGTTAGTTCAAAGCCTTAAAA	0.313																																																1	Substitution - Missense(1)	ovary(1)	12											193.0	195.0	194.0					12																	49093620		2203	4300	6503	47379887	SO:0001583	missense	904			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.437T>G	12.37:g.49093620A>C	ENSP00000261900:p.Phe146Cys		47379887	A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	a	22.1	4.245576	0.80024	.	.	ENSG00000129315	ENST00000261900	T	0.65178	-0.14	4.99	4.99	0.66335	Cyclin, N-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.84561	0.5499	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89173	0.3538	10	0.87932	D	0	-13.5106	13.98	0.64299	1.0:0.0:0.0:0.0	.	146	O60563	CCNT1_HUMAN	C	146	ENSP00000261900:F146C	ENSP00000261900:F146C	F	-	2	0	CCNT1	47379887	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.313000	0.96297	2.007000	0.58848	0.528000	0.53228	TTT		0.313	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240	
CPAMD8	27151	hgsc.bcm.edu	37	19	17132877	17132877	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr19:17132877C>G	ENST00000443236.1	-	2	379	c.348G>C	c.(346-348)caG>caC	p.Q116H	CPAMD8_ENST00000388925.4_Missense_Mutation_p.Q69H	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	69						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q116H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCGGCTCACCCTGGGCCACCA	0.607																																																1	Substitution - Missense(1)	ovary(1)	19											27.0	30.0	29.0					19																	17132877		1976	4157	6133	16993877	SO:0001583	missense	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.348G>C	19.37:g.17132877C>G	ENSP00000402505:p.Gln116His		16993877	Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.262|9.262	1.043453|1.043453	0.19748|0.19748	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440;ENST00000388925|ENST00000443236	T;T|.	0.53857|.	0.6;0.62|.	3.06|3.06	1.89|1.89	0.25635|0.25635	.|.	0.186232|.	0.32372|.	U|.	0.006185|.	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.36672|0.36672	1.1|1.1	0.28850|0.28850	N|N	0.896097|0.896097	P|.	0.48162|.	0.906|.	B|.	0.37780|.	0.258|.	T|T	0.23940|0.23940	-1.0174|-1.0174	10|5	0.46703|.	T|.	0.11|.	.|.	3.0921|3.0921	0.06297|0.06297	0.0:0.3855:0.0:0.6145|0.0:0.3855:0.0:0.6145	.|.	69|.	Q8IZJ3|.	CPMD8_HUMAN|.	H|T	116;69|127	ENSP00000291440:Q116H;ENSP00000373577:Q69H|.	ENSP00000291440:Q116H|.	Q|R	-|-	3|2	2|0	CPAMD8|CPAMD8	16993877|16993877	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.159000|0.159000	0.22180|0.22180	1.246000|1.246000	0.32803|0.32803	1.267000|1.267000	0.44247|0.44247	0.591000|0.591000	0.81541|0.81541	CAG|AGG		0.607	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
DCLK1	9201	hgsc.bcm.edu	37	13	36686117	36686117	+	Silent	SNP	C	C	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr13:36686117C>T	ENST00000360631.3	-	3	823	c.612G>A	c.(610-612)ctG>ctA	p.L204L	DCLK1_ENST00000255448.4_Silent_p.L204L|DCLK1_ENST00000379892.4_Silent_p.L204L			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	204	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.L204L(3)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTTGTTCAGCAGAATCCTGA	0.527																																																3	Substitution - coding silent(3)	large_intestine(2)|ovary(1)	13											185.0	159.0	168.0					13																	36686117		2203	4300	6503	35584117	SO:0001819	synonymous_variant	9201			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.612G>A	13.37:g.36686117C>T			35584117	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37																																																																																					0.527	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734	
DDX59	83479	hgsc.bcm.edu	37	1	200617689	200617689	+	Missense_Mutation	SNP	G	G	C	rs145880966		TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr1:200617689G>C	ENST00000331314.6	-	7	1687	c.1474C>G	c.(1474-1476)Ctt>Gtt	p.L492V	DDX59_ENST00000447706.2_Missense_Mutation_p.L492V|DDX59_ENST00000367348.3_Missense_Mutation_p.L492V	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	492	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.L492V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TCTCCTTCAAGTAATCCCTTT	0.358																																																1	Substitution - Missense(1)	ovary(1)	1						G	VAL/LEU	0,4406		0,0,2203	116.0	114.0	115.0		1474	4.5	0.1	1	dbSNP_134	115	2,8598	2.2+/-6.3	0,2,4298	no	missense	DDX59	NM_001031725.4	32	0,2,6501	CC,CG,GG		0.0233,0.0,0.0154	benign	492/620	200617689	2,13004	2203	4300	6503	198884312	SO:0001583	missense	83479			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1474C>G	1.37:g.200617689G>C	ENSP00000330460:p.Leu492Val		198884312	Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	CCDS30964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.151708|3.151708	0.57151|0.57151	0.0|0.0	2.33E-4|2.33E-4	ENSG00000118197|ENSG00000118197	ENST00000447706;ENST00000413408;ENST00000367348;ENST00000367346;ENST00000331314;ENST00000433235|ENST00000452560;ENST00000429498	T;T;T;T;T|.	0.75154|.	-0.91;-0.91;-0.91;-0.91;-0.91|.	5.5|5.5	4.49|4.49	0.54785|0.54785	Helicase, C-terminal (3);|.	0.119854|.	0.64402|.	D|.	0.000019|.	T|T	0.57066|0.57066	0.2028|0.2028	L|L	0.43701|0.43701	1.375|1.375	0.58432|0.58432	D|D	0.999998|0.999998	P;P|.	0.45396|.	0.857;0.766|.	P;P|.	0.51324|.	0.666;0.666|.	T|T	0.52313|0.52313	-0.8592|-0.8592	10|5	0.44086|.	T|.	0.13|.	-21.7279|-21.7279	10.6506|10.6506	0.45647|0.45647	0.1607:0.0:0.8393:0.0|0.1607:0.0:0.8393:0.0	.|.	492;492|.	B7Z5N6;Q5T1V6|.	.;DDX59_HUMAN|.	V|S	492;130;492;78;492;135|28;69	ENSP00000394367:L492V;ENSP00000394304:L130V;ENSP00000356317:L492V;ENSP00000330460:L492V;ENSP00000409954:L135V|.	ENSP00000330460:L492V|.	L|T	-|-	1|2	0|0	DDX59|DDX59	198884312|198884312	1.000000|1.000000	0.71417|0.71417	0.057000|0.057000	0.19452|0.19452	0.182000|0.182000	0.23217|0.23217	5.271000|5.271000	0.65553|0.65553	2.577000|2.577000	0.86979|0.86979	0.643000|0.643000	0.83706|0.83706	CTT|ACT		0.358	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4	
DENND4A	10260	hgsc.bcm.edu	37	15	66010133	66010133	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr15:66010133G>C	ENST00000431932.2	-	13	1998	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	DENND4A_ENST00000443035.3_Missense_Mutation_p.S597C|MIR4511_ENST00000582784.1_RNA	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	597	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S597C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGCAAAGAGAGAGGCTGCATC	0.398																																																1	Substitution - Missense(1)	ovary(1)	15											49.0	53.0	52.0					15																	66010133		1864	4111	5975	63797187	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1790C>G	15.37:g.66010133G>C	ENSP00000396830:p.Ser597Cys		63797187	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674889	0.88445	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.44881	0.91;0.91	5.63	5.63	0.86233	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.986;1.0;0.999	T	0.72475	-0.4282	10	0.87932	D	0	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	597;597;597	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	C	597	ENSP00000391167:S597C;ENSP00000396830:S597C	ENSP00000396830:S597C	S	-	2	0	DENND4A	63797187	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.869000	0.99810	2.641000	0.89580	0.591000	0.81541	TCT		0.398	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
HOOK1	51361	hgsc.bcm.edu	37	1	60324139	60324139	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr1:60324139G>A	ENST00000371208.3	+	13	1539	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	HOOK1_ENST00000395561.2_Missense_Mutation_p.E386K|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	428	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)	p.E428K(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AGAAACAAATGAAGAGCTTCG	0.353																																																1	Substitution - Missense(1)	ovary(1)	1											90.0	94.0	93.0					1																	60324139		2203	4300	6503	60096727	SO:0001583	missense	51361			AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1282G>A	1.37:g.60324139G>A	ENSP00000360252:p.Glu428Lys		60096727	A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	CCDS612.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959720	0.92791	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.22336	1.96;1.96	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.52320	-0.8591	10	0.44086	T	0.13	.	15.3769	0.74615	0.0:0.0:1.0:0.0	.	428	Q9UJC3	HOOK1_HUMAN	K	428;386	ENSP00000360252:E428K;ENSP00000378928:E386K	ENSP00000360252:E428K	E	+	1	0	HOOK1	60096727	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.290000	0.89925	2.287000	0.76781	0.462000	0.41574	GAA		0.353	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888	
HSPA1L	3305	hgsc.bcm.edu	37	6	31778204	31778204	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr6:31778204C>G	ENST00000375654.4	-	2	1735	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	HSPA1L_ENST00000417199.3_Missense_Mutation_p.E516Q	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	516					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.E516Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGCTCAATCTCCTCCTTGCTC	0.478																																																1	Substitution - Missense(1)	ovary(1)	6											176.0	168.0	171.0					6																	31778204		2203	4300	6503	31886183	SO:0001583	missense	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1546G>C	6.37:g.31778204C>G	ENSP00000364805:p.Glu516Gln		31886183	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.739490	0.49045	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.01197	5.19;5.19	5.55	4.64	0.57946	.	0.225916	0.22588	N	0.058138	T	0.01156	0.0038	M	0.67700	2.07	0.50813	D	0.999891	B	0.15141	0.012	B	0.26693	0.072	T	0.48210	-0.9055	10	0.62326	D	0.03	-16.9309	14.4293	0.67238	0.0:0.8526:0.1474:0.0	.	516	P34931	HS71L_HUMAN	Q	516;516;461	ENSP00000364805:E516Q;ENSP00000387691:E516Q	ENSP00000364804:E461Q	E	-	1	0	HSPA1L	31886183	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.921000	0.70028	2.890000	0.99128	0.585000	0.79938	GAG		0.478	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2		
HYDIN	54768	hgsc.bcm.edu	37	16	70998699	70998699	+	Missense_Mutation	SNP	T	T	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr16:70998699T>A	ENST00000393567.2	-	37	5870	c.5720A>T	c.(5719-5721)aAa>aTa	p.K1907I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1907					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.K1858I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTTTATCTCTTTGAAGTACTC	0.507																																																1	Substitution - Missense(1)	ovary(1)	16											28.0	23.0	24.0					16																	70998699		1778	4027	5805	69556200	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5720A>T	16.37:g.70998699T>A	ENSP00000377197:p.Lys1907Ile		69556200	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861013	0.51482	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.42513	0.97	4.93	1.41	0.22369	.	0.514459	0.14061	U	0.344049	T	0.39682	0.1087	L	0.29908	0.895	0.80722	D	1	P	0.44195	0.828	P	0.50896	0.653	T	0.16571	-1.0398	10	0.66056	D	0.02	.	8.5797	0.33621	0.0:0.23:0.0:0.77	.	1906	F8WD23	.	I	1907;1906	ENSP00000377197:K1907I	ENSP00000310485:K198I	K	-	2	0	HYDIN	69556200	0.825000	0.29262	0.956000	0.39512	0.257000	0.26127	1.489000	0.35562	-0.022000	0.13986	-0.571000	0.04153	AAA		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
IL1RAPL1	11141	hgsc.bcm.edu	37	X	29935625	29935625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chrX:29935625G>T	ENST00000378993.1	+	7	1496	c.823G>T	c.(823-825)Gga>Tga	p.G275*	IL1RAPL1_ENST00000302196.4_Nonsense_Mutation_p.G275*	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	275	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.G275*(1)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGGGTACAGCGGAGATGTCAG	0.348																																																1	Substitution - Nonsense(1)	ovary(1)	X											59.0	55.0	57.0					X																	29935625		2202	4300	6502	29845546	SO:0001587	stop_gained	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.823G>T	X.37:g.29935625G>T	ENSP00000368278:p.Gly275*		29845546	A0AVG4|Q9UJ53	Nonsense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	44	10.819807	0.99472	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1532	0.93499	0.0:0.0:1.0:0.0	.	.	.	.	X	275	.	.	G	+	1	0	IL1RAPL1	29845546	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	9.431000	0.97494	2.474000	0.83562	0.600000	0.82982	GGA		0.348	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
PABPC3	5042	hgsc.bcm.edu	37	13	25671668	25671668	+	Missense_Mutation	SNP	G	G	C	rs559352299		TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr13:25671668G>C	ENST00000281589.3	+	1	1369	c.1332G>C	c.(1330-1332)aaG>aaC	p.K444N		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	444					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.K444N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCCAAAATAAGCCCAGTGCTA	0.507																																																1	Substitution - Missense(1)	ovary(1)	13											138.0	136.0	137.0					13																	25671668		2203	4300	6503	24569668	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1332G>C	13.37:g.25671668G>C	ENSP00000281589:p.Lys444Asn		24569668	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	3.980	-0.006629	0.07773	.	.	ENSG00000151846	ENST00000281589	T	0.26810	1.71	0.555	0.555	0.17247	.	0.098626	0.41194	U	0.000937	T	0.10337	0.0253	N	0.08118	0	0.29225	N	0.873694	B	0.02656	0.0	B	0.01281	0.0	T	0.18178	-1.0345	10	0.27082	T	0.32	.	6.8676	0.24102	1.0E-4:0.0:0.9999:0.0	.	444	Q9H361	PABP3_HUMAN	N	444	ENSP00000281589:K444N	ENSP00000281589:K444N	K	+	3	2	PABPC3	24569668	1.000000	0.71417	0.902000	0.35471	0.096000	0.18686	5.941000	0.70195	0.564000	0.29238	0.313000	0.20887	AAG		0.507	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
PDCD11	22984	hgsc.bcm.edu	37	10	105200054	105200054	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr10:105200054C>T	ENST00000369797.3	+	29	4250	c.4156C>T	c.(4156-4158)Cac>Tac	p.H1386Y		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1386	S1 motif 12. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.H1386Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TAGCCTTAACCACCAGAAGAA	0.532																																																1	Substitution - Missense(1)	ovary(1)	10											88.0	98.0	94.0					10																	105200054		2201	4296	6497	105190044	SO:0001583	missense	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4156C>T	10.37:g.105200054C>T	ENSP00000358812:p.His1386Tyr		105190044	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995105	0.35226	.	.	ENSG00000148843	ENST00000369797	T	0.16897	2.31	6.04	1.85	0.25348	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	1.262220	0.04676	N	0.411545	T	0.10809	0.0264	N	0.25647	0.755	0.09310	N	1	P	0.36171	0.541	B	0.24701	0.055	T	0.27157	-1.0082	10	0.66056	D	0.02	0.0098	4.2899	0.10872	0.2314:0.5114:0.0:0.2571	.	1386	Q14690	RRP5_HUMAN	Y	1386	ENSP00000358812:H1386Y	ENSP00000358812:H1386Y	H	+	1	0	PDCD11	105190044	0.025000	0.19082	0.414000	0.26521	0.925000	0.55904	0.382000	0.20635	0.407000	0.25591	0.561000	0.74099	CAC		0.532	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		
PITPNM3	83394	hgsc.bcm.edu	37	17	6381332	6381332	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr17:6381332G>A	ENST00000262483.8	-	8	950	c.863C>T	c.(862-864)gCc>gTc	p.A288V	PITPNM3_ENST00000421306.3_Missense_Mutation_p.A252V	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	288	Ser-rich.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.A288V(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GCTGCTGCTGGCAGGGCTGTC	0.682																																																1	Substitution - Missense(1)	ovary(1)	17											59.0	67.0	64.0					17																	6381332		2203	4300	6503	6322056	SO:0001583	missense	83394			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.863C>T	17.37:g.6381332G>A	ENSP00000262483:p.Ala288Val		6322056	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	37	CCDS11076.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156166	0.38021	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.18960	2.18;2.18	4.72	3.75	0.43078	.	0.207650	0.48767	D	0.000172	T	0.08758	0.0217	N	0.08118	0	0.22050	N	0.999392	B;B	0.15141	0.011;0.012	B;B	0.15484	0.013;0.004	T	0.33137	-0.9880	10	0.15066	T	0.55	.	6.3807	0.21533	0.0:0.7006:0.1999:0.0995	.	252;288	F8WEW5;Q9BZ71	.;PITM3_HUMAN	V	288;252	ENSP00000262483:A288V;ENSP00000407882:A252V	ENSP00000262483:A288V	A	-	2	0	PITPNM3	6322056	0.010000	0.17322	1.000000	0.80357	0.987000	0.75469	0.698000	0.25571	1.222000	0.43521	-0.344000	0.07964	GCC		0.682	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220	
PPAP2A	8611	hgsc.bcm.edu	37	5	54721866	54721866	+	Splice_Site	SNP	A	A	C			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr5:54721866A>C	ENST00000307259.8	-	5	971	c.551T>G	c.(550-552)cTt>cGt	p.L184R	PPAP2A_ENST00000264775.5_Splice_Site_p.L185R	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	184					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.L185R(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				TTGAAGATAAAGCTAAAAGAA	0.358																																																1	Substitution - Missense(1)	ovary(1)	5											51.0	51.0	51.0					5																	54721866		2203	4300	6503	54757623	SO:0001630	splice_region_variant	8611			AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.550-1T>G	5.37:g.54721866A>C			54757623	B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	ENST00000307259.8	37	CCDS34159.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.496034	0.85069	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	T;T	0.78126	-1.15;-1.15	5.65	5.65	0.86999	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.332353	0.32386	N	0.006175	D	0.92909	0.7744	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.95405	0.8493	10	0.66056	D	0.02	-6.0735	16.1611	0.81712	1.0:0.0:0.0:0.0	.	184;185	O14494;G3XA95	LPP1_HUMAN;.	R	185;184	ENSP00000264775:L185R;ENSP00000302229:L184R	ENSP00000264775:L185R	L	-	2	0	PPAP2A	54757623	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	8.910000	0.92685	2.272000	0.75746	0.460000	0.39030	CTT		0.358	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368073.1		Missense_Mutation
RAPGEF6	51735	hgsc.bcm.edu	37	5	130766743	130766743	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr5:130766743T>G	ENST00000509018.1	-	26	4479	c.4274A>C	c.(4273-4275)aAa>aCa	p.K1425T	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.K1438T|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.K1433T|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.K1475T|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.K1433T	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1425	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.K1425T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TAGGCTTCCTTTACACTGCCC	0.468																																					Melanoma(168;435 1955 13113 13877 23213)											1	Substitution - Missense(1)	ovary(1)	5											121.0	123.0	122.0					5																	130766743		2203	4300	6503	130794642	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4274A>C	5.37:g.130766743T>G	ENSP00000421684:p.Lys1425Thr		130794642	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	9.461	1.093049	0.20471	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.26067	1.86;1.76;1.76;1.86;1.95	5.11	1.42	0.22433	.	0.286010	0.40144	N	0.001169	T	0.22551	0.0544	L	0.51422	1.61	0.80722	D	1	B;B;B;B;B	0.28552	0.075;0.215;0.032;0.008;0.215	B;B;B;B;B	0.32465	0.055;0.146;0.044;0.046;0.146	T	0.04294	-1.0962	10	0.36615	T	0.2	.	8.7859	0.34821	0.0:0.2192:0.0:0.7808	.	1433;1433;1475;1438;1425	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	T	1425;1438;1433;1433;1438;1475	ENSP00000421684:K1425T;ENSP00000309298:K1438T;ENSP00000426081:K1433T;ENSP00000296859:K1433T;ENSP00000426948:K1475T	ENSP00000426948:K1475T	K	-	2	0	RAPGEF6;FNIP1	130794642	1.000000	0.71417	0.968000	0.41197	0.148000	0.21650	2.470000	0.45119	0.371000	0.24564	-0.290000	0.09829	AAA		0.468	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	
RARS2	57038	hgsc.bcm.edu	37	6	88234357	88234357	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr6:88234357C>T	ENST00000369536.5	-	11	937	c.892G>A	c.(892-894)Gta>Ata	p.V298I		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	298					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.V298I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		AGATCTACTACAGCCGTTCCT	0.393																																																1	Substitution - Missense(1)	ovary(1)	6											99.0	96.0	97.0					6																	88234357		2203	4300	6503	88291076	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.892G>A	6.37:g.88234357C>T	ENSP00000358549:p.Val298Ile		88291076	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	ENST00000369536.5	37	CCDS5011.1	.	.	.	.	.	.	.	.	.	.	C	6.216	0.407993	0.11754	.	.	ENSG00000146282	ENST00000369536	T	0.64991	-0.13	5.6	1.69	0.24217	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.184455	0.47455	N	0.000223	T	0.23532	0.0569	L	0.33293	1	0.46954	D	0.999265	B	0.06786	0.001	B	0.16289	0.015	T	0.17258	-1.0375	10	0.07644	T	0.81	.	9.7589	0.40519	0.0:0.6482:0.0:0.3518	.	298	Q5T160	SYRM_HUMAN	I	298	ENSP00000358549:V298I	ENSP00000358549:V298I	V	-	1	0	RARS2	88291076	0.962000	0.33011	0.999000	0.59377	0.108000	0.19459	0.540000	0.23191	0.281000	0.22233	0.563000	0.77884	GTA		0.393	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041448.1	NM_020320	
RELN	5649	hgsc.bcm.edu	37	7	103113287	103113287	+	Missense_Mutation	SNP	C	C	T	rs149434986	byFrequency	TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr7:103113287C>T	ENST00000428762.1	-	65	10514	c.10355G>A	c.(10354-10356)aGa>aAa	p.R3452K	RELN_ENST00000343529.5_Missense_Mutation_p.R3450K|RELN_ENST00000424685.2_Missense_Mutation_p.R3452K|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3452	Arg-rich (basic).				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.R3450K(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGACCTTCGTCTTCTGTTGTA	0.373																																					NSCLC(146;835 1944 15585 22231 52158)											1	Substitution - Missense(1)	ovary(1)	7						C	LYS/ARG,LYS/ARG	0,4406		0,0,2203	174.0	163.0	166.0		10355,10349	5.8	1.0	7	dbSNP_134	166	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	RELN	NM_005045.3,NM_173054.2	26,26	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	3452/3461,3450/3459	103113287	3,13003	2203	4300	6503	102900523	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10355G>A	7.37:g.103113287C>T	ENSP00000392423:p.Arg3452Lys		102900523	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386301	0.82902	0.0	3.49E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828	T;T;T	0.77750	-1.12;-1.12;-1.12	5.75	5.75	0.90469	.	0.118364	0.56097	D	0.000024	T	0.73560	0.3602	N	0.02011	-0.69	0.49483	D	0.999793	B;P	0.52842	0.063;0.956	B;D	0.65010	0.031;0.931	T	0.81653	-0.0835	10	0.48119	T	0.1	.	19.9525	0.97208	0.0:1.0:0.0:0.0	.	3450;3452	P78509-2;P78509	.;RELN_HUMAN	K	3452;3450;3452;969	ENSP00000392423:R3452K;ENSP00000345694:R3450K;ENSP00000388446:R3452K	ENSP00000345694:R3450K	R	-	2	0	RELN	102900523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.077000	0.57598	2.719000	0.93026	0.655000	0.94253	AGA		0.373	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
SCN5A	6331	hgsc.bcm.edu	37	3	38651343	38651343	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr3:38651343G>T	ENST00000333535.4	-	7	965	c.816C>A	c.(814-816)ttC>ttA	p.F272L	SCN5A_ENST00000451551.2_Missense_Mutation_p.F272L|SCN5A_ENST00000413689.1_Missense_Mutation_p.F272L|SCN5A_ENST00000423572.2_Missense_Mutation_p.F272L|SCN5A_ENST00000455624.2_Missense_Mutation_p.F272L|SCN5A_ENST00000449557.2_Missense_Mutation_p.F272L|SCN5A_ENST00000414099.2_Missense_Mutation_p.F272L|SCN5A_ENST00000443581.1_Missense_Mutation_p.F272L|SCN5A_ENST00000425664.1_Missense_Mutation_p.F272L|SCN5A_ENST00000450102.2_Missense_Mutation_p.F272L			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	272					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.F272L(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTTGCCCATGAAGAGCTGCA	0.607																																																1	Substitution - Missense(1)	ovary(1)	3											80.0	86.0	84.0					3																	38651343		2181	4288	6469	38626347	SO:0001583	missense	6331			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.816C>A	3.37:g.38651343G>T	ENSP00000328968:p.Phe272Leu		38626347	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250643	0.80135	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557;ENST00000399254	D;D;D;D;D;D;D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41;-5.41;-5.41;-5.41;-5.41;-5.41;-5.41	5.34	3.56	0.40772	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99435	0.9800	H	0.96015	3.755	0.44985	D	0.998009	D;D;D;D;D;D;D	0.76494	0.999;0.99;0.992;0.999;0.999;0.999;0.998	D;D;D;D;D;D;D	0.80764	0.992;0.979;0.987;0.992;0.992;0.994;0.987	D	0.98826	1.0749	10	0.87932	D	0	.	11.0722	0.48010	0.2068:0.0:0.7932:0.0	.	272;272;272;272;272;272;272	E9PEF3;Q14524-3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	L	272;272;272;272;272;272;272;272;272;272;82	ENSP00000398962:F272L;ENSP00000398266:F272L;ENSP00000410257:F272L;ENSP00000388797:F272L;ENSP00000397915:F272L;ENSP00000416634:F272L;ENSP00000328968:F272L;ENSP00000399524:F272L;ENSP00000403355:F272L;ENSP00000413996:F272L	ENSP00000328968:F272L	F	-	3	2	SCN5A	38626347	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.747000	0.38298	0.836000	0.34901	-0.140000	0.14226	TTC		0.607	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
FZD3	7976	hgsc.bcm.edu	37	8	28385565	28385565	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0928-01A-02W-0419-10	TCGA-10-0928-11A-01W-0419-10	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	d69325c8-7b93-4156-a4a0-6f9f4579aaaf	a28ea394-a137-4139-98be-f559a0fe37be	g.chr8:28385565G>C	ENST00000240093.3	+	5	1766	c.1288G>C	c.(1288-1290)Gta>Cta	p.V430L	RNA5SP259_ENST00000365541.1_RNA|FZD3_ENST00000537916.1_Missense_Mutation_p.V430L	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	430					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V430L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TCTTTATCTCGTACCACTCTT	0.403																																																1	Substitution - Missense(1)	ovary(1)	8											170.0	170.0	170.0					8																	28385565		2203	4300	6503	28441484	SO:0001583	missense	7976			AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.1288G>C	8.37:g.28385565G>C	ENSP00000240093:p.Val430Leu		28441484	A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238804	0.58995	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.84370	-1.84;-1.84	5.45	5.45	0.79879	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.82660	0.5085	L	0.39245	1.2	0.80722	D	1	B	0.28082	0.2	B	0.33846	0.171	T	0.79999	-0.1566	10	0.44086	T	0.13	.	17.8242	0.88660	0.0:0.0:1.0:0.0	.	430	Q9NPG1	FZD3_HUMAN	L	430	ENSP00000437489:V430L;ENSP00000240093:V430L	ENSP00000240093:V430L	V	+	1	0	FZD3	28441484	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.869000	0.99810	2.549000	0.85964	0.563000	0.77884	GTA		0.403	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866	
