#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_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
CLCNKB	1188	broad.mit.edu	37	1	16374531	16374531	+	Missense_Mutation	SNP	G	G	A	rs201608930		TCGA-25-1328-01	TCGA-25-1328-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-25-1328-01	TCGA-25-1328-10	g.chr1:16374531G>A	ENST00000375679.4	+	5	601	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	CLCNKB_ENST00000375667.3_5'Flank	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	164					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.G164R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCTTCCTCGGGAAAGTGGT	0.632																																																1	Substitution - Missense(1)	ovary(1)	1																																								16247118	SO:0001583	missense	1188			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.490G>A	1.37:g.16374531G>A	ENSP00000364831:p.Gly164Arg		16247118	B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	CCDS168.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	g	16.49	3.137152	0.56936	.	.	ENSG00000184908	ENST00000375679;ENST00000331579	D	0.99800	-6.8	3.71	3.71	0.42584	Chloride channel, core (2);	0.175979	0.50627	N	0.000112	D	0.99757	0.9902	M	0.89353	3.025	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.96934	0.9683	10	0.66056	D	0.02	.	14.6242	0.68608	0.0:0.0:1.0:0.0	.	164	P51801	CLCKB_HUMAN	R	164	ENSP00000364831:G164R	ENSP00000332055:G164R	G	+	1	0	CLCNKB	16247118	1.000000	0.71417	0.998000	0.56505	0.184000	0.23303	7.503000	0.81632	1.896000	0.54893	0.563000	0.77884	GGG		0.632	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		Missense_Mutation
WSCD2	9671	broad.mit.edu	37	12	108604032	108604032	+	Missense_Mutation	SNP	A	A	C			TCGA-25-1328-01	TCGA-25-1328-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-25-1328-01	TCGA-25-1328-10	g.chr12:108604032A>C	ENST00000332082.4	+	5	1450	c.632A>C	c.(631-633)aAc>aCc	p.N211T	WSCD2_ENST00000549903.1_Missense_Mutation_p.N211T|WSCD2_ENST00000547525.1_Missense_Mutation_p.N211T|WSCD2_ENST00000261400.3_Missense_Mutation_p.N211T			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	211	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)		p.N211T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGCGGCGCCAACCGCCTCTCT	0.677																																																1	Substitution - Missense(1)	ovary(1)	12											11.0	17.0	15.0					12																	108604032		2156	4243	6399	107128162	SO:0001583	missense	9671				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.632A>C	12.37:g.108604032A>C	ENSP00000331933:p.Asn211Thr		107128162	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	CCDS41828.1	SNP	2	Broad	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056601	0.55325	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.35048	1.34;1.33;1.43;1.34;1.33	5.12	5.12	0.69794	Carbohydrate-binding WSC (1);Carbohydrate-binding WSC, subgroup (1);	0.091915	0.64402	D	0.000001	T	0.44705	0.1306	M	0.86953	2.85	0.58432	D	0.999998	B	0.23058	0.079	B	0.24269	0.052	T	0.42344	-0.9457	10	0.24483	T	0.36	-38.4692	13.7281	0.62769	1.0:0.0:0.0:0.0	.	211	Q2TBF2	WSCD2_HUMAN	T	211;211;58;211;211	ENSP00000448047:N211T;ENSP00000261400:N211T;ENSP00000446744:N58T;ENSP00000331933:N211T;ENSP00000447272:N211T	ENSP00000261400:N211T	N	+	2	0	WSCD2	107128162	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.712000	0.74681	1.927000	0.55829	0.454000	0.30748	AAC		0.677	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		Missense_Mutation
YLPM1	56252	broad.mit.edu	37	14	75230453	75230453	+	Silent	SNP	G	G	C			TCGA-25-1328-01	TCGA-25-1328-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-25-1328-01	TCGA-25-1328-10	g.chr14:75230453G>C	ENST00000552421.1	+	1	385	c.261G>C	c.(259-261)ccG>ccC	p.P87P	YLPM1_ENST00000325680.7_Silent_p.P87P|YLPM1_ENST00000238571.3_Silent_p.P87P			P49750	YLPM1_HUMAN	YLP motif containing 1	87	Pro-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.P87P(1)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCCCTCTGCCGCCCCCGCCAG	0.701																																																1	Substitution - coding silent(1)	ovary(1)	14																																								74300206	SO:0001819	synonymous_variant	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.261G>C	14.37:g.75230453G>C			74300206	P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000552421.1	37		SNP	38	Broad																																																																																				0.701	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		Silent
MINK1	50488	broad.mit.edu	37	17	4794332	4794332	+	Silent	SNP	C	C	A			TCGA-25-1328-01	TCGA-25-1328-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-25-1328-01	TCGA-25-1328-10	g.chr17:4794332C>A	ENST00000355280.6	+	15	1849	c.1653C>A	c.(1651-1653)atC>atA	p.I551I	MINK1_ENST00000347992.7_Silent_p.I551I|MINK1_ENST00000453408.3_Silent_p.I551I	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1									p.I551I(1)		central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGCCCCCCATCCCCCAGGCCT	0.637																																																1	Substitution - coding silent(1)	ovary(1)	17											28.0	30.0	30.0					17																	4794332		1878	4029	5907	4735114	SO:0001819	synonymous_variant	50488			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.1653C>A	17.37:g.4794332C>A			4735114		Silent	SNP	ENST00000355280.6	37	CCDS45588.1	SNP	30	Broad																																																																																				0.637	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		Silent
DHX33	56919	broad.mit.edu	37	17	5347810	5347810	+	Silent	SNP	G	G	T			TCGA-25-1328-01	TCGA-25-1328-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-25-1328-01	TCGA-25-1328-10	g.chr17:5347810G>T	ENST00000225296.3	-	12	2039	c.1839C>A	c.(1837-1839)tcC>tcA	p.S613S	DHX33_ENST00000433302.3_Silent_p.S389S	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	613					positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)	p.S613S(1)		breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGTCTCCTCGGGATGATGCGA	0.597																																																1	Substitution - coding silent(1)	ovary(1)	17											60.0	57.0	58.0					17																	5347810		2203	4300	6503	5288534	SO:0001819	synonymous_variant	56919			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1839C>A	17.37:g.5347810G>T			5288534	B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Silent	SNP	ENST00000225296.3	37	CCDS11072.1	SNP	43	Broad																																																																																				0.597	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219826.2	NM_020162		Silent
DTNA	1837	broad.mit.edu	37	18	32398188	32398188	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1328-01	TCGA-25-1328-10			G	T	G	G	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-25-1328-01	TCGA-25-1328-10	g.chr18:32398188G>T	ENST00000399113.3	+	7	770	c.770G>T	c.(769-771)cGa>cTa	p.R257L	DTNA_ENST00000554864.3_Missense_Mutation_p.R257L|DTNA_ENST00000556414.3_5'Flank|DTNA_ENST00000598774.1_Missense_Mutation_p.R257L|DTNA_ENST00000597674.1_5'Flank|DTNA_ENST00000269190.7_Missense_Mutation_p.R257L|AC068506.1_ENST00000408482.1_RNA|DTNA_ENST00000597599.1_Missense_Mutation_p.R257L|DTNA_ENST00000283365.9_Missense_Mutation_p.R257L|DTNA_ENST00000598334.1_Missense_Mutation_p.R257L|DTNA_ENST00000315456.6_Missense_Mutation_p.R257L|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000591182.1_5'Flank|DTNA_ENST00000269192.7_5'Flank|DTNA_ENST00000598142.1_Missense_Mutation_p.R257L|DTNA_ENST00000348997.5_Missense_Mutation_p.R257L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000595022.1_Missense_Mutation_p.R257L|DTNA_ENST00000444659.1_Missense_Mutation_p.R257L|DTNA_ENST00000601125.1_5'UTR|DTNA_ENST00000599844.1_5'Flank|DTNA_ENST00000399121.5_Missense_Mutation_p.R257L|DTNA_ENST00000269191.6_Missense_Mutation_p.R257L			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	257	Interaction with MAGEE1. {ECO:0000250}.				neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R257L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TTTCGCTACCGATGCCAACAG	0.478																																																1	Substitution - Missense(1)	ovary(1)	18											165.0	135.0	145.0					18																	32398188		2203	4300	6503	30652186	SO:0001583	missense	1837			U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.770G>T	18.37:g.32398188G>T	ENSP00000382064:p.Arg257Leu		30652186	A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Missense_Mutation	SNP	ENST00000399113.3	37	CCDS59311.1	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	36	5.718319	0.96839	.	.	ENSG00000134769	ENST00000399119;ENST00000283365;ENST00000315456;ENST00000556176;ENST00000399114;ENST00000269190;ENST00000348997;ENST00000399121;ENST00000444659;ENST00000269191;ENST00000399113	D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.87	5.87	0.94306	Zinc finger, ZZ-type (4);	0.069786	0.64402	D	0.000019	D	0.96904	0.8989	M	0.89478	3.035	0.80722	D	1	D;P;D;D;D;D;D;D;D;D;D;D	0.71674	0.998;0.954;0.977;0.983;0.988;0.965;0.957;0.995;0.972;0.988;0.996;0.965	D;P;P;D;D;P;D;D;D;D;D;P	0.81914	0.995;0.81;0.774;0.947;0.933;0.774;0.932;0.96;0.932;0.933;0.992;0.888	D	0.96981	0.9715	10	0.87932	D	0	-9.461	20.2084	0.98285	0.0:0.0:1.0:0.0	.	7;257;257;257;257;257;257;268;257;257;257;257	B7Z3X3;Q9Y4J8;Q9Y4J8-3;A8K541;F5H5C1;Q9Y4J8-4;E9PEH8;Q59GK7;Q9BS59;Q9Y4J8-2;Q9Y4J8-5;Q9Y4J8-7	.;DTNA_HUMAN;.;.;.;.;.;.;.;.;.;.	L	257	ENSP00000283365:R257L;ENSP00000322519:R257L;ENSP00000269190:R257L;ENSP00000336682:R257L;ENSP00000382072:R257L;ENSP00000405819:R257L;ENSP00000269191:R257L;ENSP00000382064:R257L	ENSP00000269190:R257L	R	+	2	0	DTNA	30652186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.774000	0.95407	0.650000	0.86243	CGA		0.478	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		Missense_Mutation
CEACAM7	1087	broad.mit.edu	37	19	42187883	42187883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-25-1328-01	TCGA-25-1328-10			C	T	C	C	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-25-1328-01	TCGA-25-1328-10	g.chr19:42187883C>T	ENST00000006724.3	-	3	740	c.539G>A	c.(538-540)tGg>tAg	p.W180*	CEACAM7_ENST00000401731.1_Nonsense_Mutation_p.W180*|CEACAM7_ENST00000599715.1_5'Flank|CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	180	Ig-like C2-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.W180*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ATTGTTTACCCACCACAGGTA	0.507																																																1	Substitution - Nonsense(1)	ovary(1)	19											162.0	154.0	156.0					19																	42187883		2203	4300	6503	46879723	SO:0001587	stop_gained	1087			X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.539G>A	19.37:g.42187883C>T	ENSP00000006724:p.Trp180*		46879723	A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Nonsense_Mutation	SNP	ENST00000006724.3	37	CCDS12583.1	SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	C	17.94	3.511575	0.64522	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731	.	.	.	2.83	-0.862	0.10673	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.0487	0.09785	0.5233:0.2759:0.2008:0.0	.	.	.	.	X	180;159;180	.	ENSP00000006724:W180X	W	-	2	0	CEACAM7	46879723	0.001000	0.12720	0.045000	0.18777	0.368000	0.29767	-0.861000	0.04268	-0.425000	0.07371	0.313000	0.20887	TGG		0.507	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		Nonsense_Mutation
CEP19	84984	broad.mit.edu	37	3	196434438	196434438	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1328-01	TCGA-25-1328-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-25-1328-01	TCGA-25-1328-10	g.chr3:196434438G>A	ENST00000399942.4	-	2	665	c.371C>T	c.(370-372)tCa>tTa	p.S124L	RNU6-646P_ENST00000364571.1_RNA|CEP19_ENST00000409690.3_Missense_Mutation_p.S163L			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	159						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.S159L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						CTCATCAGCTGACTCTGTGTC	0.403																																																1	Substitution - Missense(1)	ovary(1)	3											88.0	85.0	86.0					3																	196434438		1933	4159	6092	197918835	SO:0001583	missense	84984			BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"""chromosome 3 open reading frame 34"""	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.371C>T	3.37:g.196434438G>A	ENSP00000382823:p.Ser124Leu		197918835	B2RA74|Q96I48	Missense_Mutation	SNP	ENST00000399942.4	37		SNP	45	Broad	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712232	0.68730	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.66	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.78375	0.4273	M	0.71581	2.175	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.80892	-0.1179	9	0.59425	D	0.04	-8.8717	16.4089	0.83699	0.0:0.0:0.8674:0.1326	.	159	Q96LK0	CEP19_HUMAN	L	163;124	.	ENSP00000382823:S124L	S	-	2	0	CEP19	197918835	1.000000	0.71417	0.995000	0.50966	0.917000	0.54804	9.109000	0.94291	1.516000	0.48900	0.655000	0.94253	TCA		0.403	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333081.1	NM_032898		Missense_Mutation
GPR98	84059	broad.mit.edu	37	5	90072282	90072282	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1328-01	TCGA-25-1328-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-25-1328-01	TCGA-25-1328-10	g.chr5:90072282T>A	ENST00000405460.2	+	61	12512	c.12416T>A	c.(12415-12417)aTa>aAa	p.I4139K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4139	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I4139K(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTGCATCAATAATTATTCGG	0.423																																																1	Substitution - Missense(1)	ovary(1)	5											98.0	98.0	98.0					5																	90072282		1924	4125	6049	90108038	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12416T>A	5.37:g.90072282T>A	ENSP00000384582:p.Ile4139Lys		90108038	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	SNP	49	Broad	.	.	.	.	.	.	.	.	.	.	T	17.53	3.413197	0.62511	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.32515	1.45	5.27	5.27	0.74061	.	0.342627	0.34700	N	0.003756	T	0.31167	0.0788	L	0.54323	1.7	0.80722	D	1	P	0.43169	0.8	B	0.37943	0.261	T	0.19257	-1.0311	10	0.72032	D	0.01	.	15.1622	0.72793	0.0:0.0:0.0:1.0	.	4139	Q8WXG9	GPR98_HUMAN	K	4139	ENSP00000384582:I4139K	ENSP00000296619:I4139K	I	+	2	0	GPR98	90108038	1.000000	0.71417	0.759000	0.31340	0.273000	0.26683	6.665000	0.74442	2.124000	0.65301	0.519000	0.50382	ATA		0.423	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		Missense_Mutation
PCDHB10	56126	broad.mit.edu	37	5	140573165	140573165	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1328-01	TCGA-25-1328-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-25-1328-01	TCGA-25-1328-10	g.chr5:140573165T>A	ENST00000239446.4	+	1	1224	c.1040T>A	c.(1039-1041)cTg>cAg	p.L347Q		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	347	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L347Q(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCCTGAACTGATCGTATCA	0.423																																																1	Substitution - Missense(1)	ovary(1)	5											93.0	94.0	94.0					5																	140573165		2203	4300	6503	140553349	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1040T>A	5.37:g.140573165T>A	ENSP00000239446:p.Leu347Gln		140553349	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	SNP	55	Broad	.	.	.	.	.	.	.	.	.	.	T	12.72	2.023794	0.35701	.	.	ENSG00000120324	ENST00000239446	T	0.39997	1.05	3.41	3.41	0.39046	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.60248	0.2254	M	0.82823	2.61	0.40340	D	0.979029	P	0.51147	0.942	P	0.56788	0.806	T	0.68796	-0.5314	9	0.87932	D	0	.	12.0382	0.53438	0.0:0.0:0.0:1.0	.	347	Q9UN67	PCDBA_HUMAN	Q	347	ENSP00000239446:L347Q	ENSP00000239446:L347Q	L	+	2	0	PCDHB10	140553349	0.968000	0.33430	0.333000	0.25482	0.146000	0.21551	7.607000	0.82883	1.572000	0.49736	0.454000	0.30748	CTG		0.423	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		Missense_Mutation
DNAH11	8701	broad.mit.edu	37	7	21882244	21882244	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1328-01	TCGA-25-1328-10			T	C	T	T	Unknown	Valid	Somatic	x	x	Sequenom_PCR_WGA			x	TCGA-25-1328-01	TCGA-25-1328-10	g.chr7:21882244T>C	ENST00000409508.3	+	66	10805	c.10774T>C	c.(10774-10776)Tat>Cat	p.Y3592H	DNAH11_ENST00000328843.6_Missense_Mutation_p.Y3599H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3599	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Y3599H(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAATCCTCACTATAAGCCGGA	0.413									Kartagener syndrome																																							1	Substitution - Missense(1)	ovary(1)	7											97.0	90.0	92.0					7																	21882244		1886	4113	5999	21848769	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10774T>C	7.37:g.21882244T>C	ENSP00000475939:p.Tyr3592His		21848769	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		SNP	53	Broad	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427637	0.83667	.	.	ENSG00000105877	ENST00000328843	T	0.33438	1.41	5.36	5.36	0.76844	.	0.058283	0.64402	D	0.000001	T	0.56717	0.2004	.	.	.	0.58432	D	0.999998	D	0.89917	1.0	D	0.76071	0.987	T	0.62378	-0.6867	9	0.87932	D	0	.	14.348	0.66680	0.0:0.0:0.0:1.0	.	3599	Q96DT5	DYH11_HUMAN	H	3599	ENSP00000330671:Y3599H	ENSP00000330671:Y3599H	Y	+	1	0	DNAH11	21848769	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.267000	0.72546	2.034000	0.60081	0.533000	0.62120	TAT		0.413	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		Missense_Mutation
TAS2R16	50833	broad.mit.edu	37	7	122634817	122634817	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1328-01	TCGA-25-1328-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-25-1328-01	TCGA-25-1328-10	g.chr7:122634817C>T	ENST00000249284.2	-	1	937	c.872G>A	c.(871-873)tGc>tAc	p.C291Y		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	291					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)	p.C291Y(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTAGGCCTAGCACTTTCCCTT	0.413																																																1	Substitution - Missense(1)	ovary(1)	7											103.0	107.0	106.0					7																	122634817		2203	4300	6503	122422053	SO:0001583	missense	50833			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.872G>A	7.37:g.122634817C>T	ENSP00000249284:p.Cys291Tyr		122422053	A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	CCDS5785.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244221	0.39697	.	.	ENSG00000128519	ENST00000249284	T	0.00892	5.57	4.1	-1.8	0.07907	.	0.447811	0.20701	N	0.087272	T	0.00524	0.0017	N	0.08118	0	0.09310	N	1	P	0.46912	0.886	B	0.37833	0.259	T	0.56025	-0.8047	10	0.87932	D	0	.	6.4055	0.21662	0.6142:0.2872:0.0:0.0986	.	291	Q9NYV7	T2R16_HUMAN	Y	291	ENSP00000249284:C291Y	ENSP00000249284:C291Y	C	-	2	0	TAS2R16	122422053	0.000000	0.05858	0.001000	0.08648	0.063000	0.16089	-0.486000	0.06513	-0.382000	0.07870	0.591000	0.81541	TGC		0.413	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		Missense_Mutation
TBC1D25	4943	broad.mit.edu	37	X	48417294	48417294	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1328-01	TCGA-25-1328-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-25-1328-01	TCGA-25-1328-10	g.chrX:48417294T>C	ENST00000376771.4	+	4	739	c.398T>C	c.(397-399)cTa>cCa	p.L133P	TBC1D25_ENST00000476141.1_3'UTR|TBC1D25_ENST00000537536.1_Intron|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	133					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.A81A(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GGCCCATTGCTAGAAGACTGG	0.542																																																1	Substitution - coding silent(1)	ovary(1)	X											90.0	74.0	79.0					X																	48417294		2203	4300	6503	48302238	SO:0001583	missense	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.398T>C	X.37:g.48417294T>C	ENSP00000365962:p.Leu133Pro		48302238	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	SNP	53	Broad	.	.	.	.	.	.	.	.	.	.	T	11.96	1.795654	0.31777	.	.	ENSG00000068354	ENST00000376771;ENST00000418627	T;T	0.49432	0.78;0.78	5.54	4.37	0.52481	.	0.141869	0.47093	D	0.000243	T	0.61311	0.2337	M	0.68952	2.095	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.998	P;D;D	0.65010	0.823;0.931;0.921	T	0.61724	-0.7004	10	0.62326	D	0.03	-3.6292	8.8406	0.35140	0.0:0.0901:0.0:0.9099	.	137;75;133	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	P	133;149	ENSP00000365962:L133P;ENSP00000402268:L149P	ENSP00000365962:L133P	L	+	2	0	TBC1D25	48302238	1.000000	0.71417	0.996000	0.52242	0.251000	0.25915	7.346000	0.79347	0.824000	0.34613	-0.323000	0.08544	CTA		0.542	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2	NM_002536		Missense_Mutation
