#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TENM2	57451	broad.mit.edu	37	5	167645509	167645509	+	Missense_Mutation	SNP	C	C	T	rs370446142		TCGA-J8-A4HW-06A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd7d1d09-5c2b-414d-9ec2-e7a7d5665671	269e9978-ced5-4398-9523-947b064a3ca8	g.chr5:167645509C>T	ENST00000518659.1	+	23	4652	c.4613C>T	c.(4612-4614)gCg>gTg	p.A1538V	TENM2_ENST00000519204.1_Missense_Mutation_p.A1417V|TENM2_ENST00000520394.1_Missense_Mutation_p.A1299V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1537V|TENM2_ENST00000403607.2_Missense_Mutation_p.A1362V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1538					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GATGCCTACGCGACTGATGCC	0.502																																						uc010jjd.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122						c.(4585-4587)gCg>gTg		Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.		C	VAL/ALA	0,4102		0,0,2051	189.0	186.0	187.0		4586	5.9	0.8	5		187	1,8409		0,1,4204	no	missense	ODZ2	NM_001122679.1	64	0,1,6255	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	1529/2766	167645509	1,12511	2051	4205	6256	SO:0001583	missense	57451							g.chr5:167645509C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4613C>T	5.37:g.167645509C>T	ENSP00000429430:p.Ala1538Val		Somatic				ODZ2_uc003lzr.4_Missense_Mutation_p.A1299V|ODZ2_uc003lzt.4_Missense_Mutation_p.A902V|ODZ2_uc010jje.3_Missense_Mutation_p.A793V	p.A1529V	NM_001122679	NP_001116151	WXS	Illumina GAIIx	Phase_I			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	22	4586	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4586C>T		.	.	.	.	.	.	.	.	.	.	C	27.2	4.808693	0.90707	0.0	1.19E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.92805	-2.65;-2.64;-2.76;-3.08;-3.11	5.95	5.95	0.96441	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97673	0.9237	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.987	D	0.97948	1.0330	10	0.66056	D	0.02	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1537;1538;1299	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	1538;1537;1417;1299;1362	ENSP00000429430:A1538V;ENSP00000438635:A1537V;ENSP00000428964:A1417V;ENSP00000427874:A1299V;ENSP00000384905:A1362V	ENSP00000384905:A1362V	A	+	2	0	ODZ2	167578087	1.000000	0.71417	0.784000	0.31847	0.952000	0.60782	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GCG		0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		32	146	0	0	0	1	0	32	146				
ADARB1	104	broad.mit.edu	37	21	46591540	46591540	+	5'UTR	SNP	G	G	A			TCGA-J8-A4HW-06A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd7d1d09-5c2b-414d-9ec2-e7a7d5665671	269e9978-ced5-4398-9523-947b064a3ca8	g.chr21:46591540G>A	ENST00000539173.1	+	0	404				ADARB1_ENST00000389863.4_5'UTR|ADARB1_ENST00000437626.1_5'UTR|ADARB1_ENST00000348831.4_5'UTR|ADARB1_ENST00000360697.3_5'Flank	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1						adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		AACAGTCTCCGCCAGTCAAGA	0.358																																						uc011afo.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(115-117)cGc>cAc		Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 7, mRNA.							76.0	78.0	77.0					21																	46591540		2203	4300	6503	SO:0001623	5_prime_UTR_variant	104				RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding	g.chr21:46591540G>A	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000539173.1:c.-32G>A	21.37:g.46591540G>A			Somatic				ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_5'UTR|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_5'UTR|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgr.2_5'UTR|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript|ADARB1_uc002zgy.2_5'UTR	p.R39H	NM_001160230	NP_001153702	WXS	Illumina GAIIx	Phase_I	P78563	RED1_HUMAN		Colorectal(79;0.115)	1	117	+			84					A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Missense_Mutation	SNP	ENST00000539173.1	37	c.116G>A	CCDS33589.1																																																																																				0.358	ADARB1-202	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_015833		13	43	0	0	0	1	0	13	43				
MED15	51586	broad.mit.edu	37	22	20891439	20891439	+	Missense_Mutation	SNP	G	G	T			TCGA-J8-A4HW-06A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd7d1d09-5c2b-414d-9ec2-e7a7d5665671	269e9978-ced5-4398-9523-947b064a3ca8	g.chr22:20891439G>T	ENST00000263205.7	+	2	173	c.104G>T	c.(103-105)aGt>aTt	p.S35I	MED15_ENST00000292733.7_Missense_Mutation_p.S35I|MED15_ENST00000541476.1_Missense_Mutation_p.S9I|MED15_ENST00000382974.2_Missense_Mutation_p.S35I|MED15_ENST00000406969.1_Missense_Mutation_p.S9I|MED15_ENST00000425759.2_5'UTR|MED15_ENST00000542773.1_5'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	35	Interaction with SREBF1.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTGGCACACAGTAAATCCAGC	0.552																																						uc002zsp.3																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(103-105)aGt>aTt		Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.							180.0	153.0	162.0					22																	20891439		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20891439G>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.104G>T	22.37:g.20891439G>T	ENSP00000263205:p.Ser35Ile		Somatic				MED15_uc002zsn.1_5'UTR|MED15_uc002zso.2_Missense_Mutation_p.S35I|MED15_uc002zsq.3_Missense_Mutation_p.S35I|MED15_uc010gso.3_Missense_Mutation_p.S35I|MED15_uc002zsr.3_Missense_Mutation_p.S9I|MED15_uc011ahs.2_Missense_Mutation_p.S9I|MED15_uc011aht.1_Missense_Mutation_p.S9I	p.S35I	NM_001003891	NP_001003891	WXS	Illumina GAIIx	Phase_I	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		1	184	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	35			Interaction with SREBF1.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.104G>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313692	0.40996	.	.	ENSG00000099917	ENST00000445987;ENST00000414658;ENST00000432052;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000438962;ENST00000445189;ENST00000542312;ENST00000451058	.	.	.	5.7	3.63	0.41609	Mediator complex, subunit Med15, metazoa (1);	0.205257	0.49916	D	0.000133	T	0.50377	0.1612	L	0.50333	1.59	0.80722	D	1	P;P;P;P;P	0.50369	0.934;0.919;0.919;0.934;0.899	P;P;P;P;P	0.49637	0.617;0.483;0.483;0.617;0.466	T	0.53507	-0.8429	9	0.87932	D	0	.	5.315	0.15850	0.1748:0.1689:0.6563:0.0	.	54;9;35;35;35	Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5;Q96RN5-3	.;.;.;MED15_HUMAN;.	I	9;9;9;35;35;9;35;9;109;9;9;9	.	ENSP00000263205:S35I	S	+	2	0	MED15	19221439	0.998000	0.40836	1.000000	0.80357	0.640000	0.38277	0.383000	0.20651	1.426000	0.47256	0.655000	0.94253	AGT		0.552	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		11	65	0	0	0	1	0	11	65				
CYP19A1	1588	broad.mit.edu	37	15	51520089	51520089	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A4HW-06A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd7d1d09-5c2b-414d-9ec2-e7a7d5665671	269e9978-ced5-4398-9523-947b064a3ca8	g.chr15:51520089C>A	ENST00000396402.1	-	4	491	c.338G>T	c.(337-339)aGc>aTc	p.S113I	CYP19A1_ENST00000405913.3_Missense_Mutation_p.S113I|CYP19A1_ENST00000396404.4_Missense_Mutation_p.S113I|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000559878.1_Missense_Mutation_p.S113I|CYP19A1_ENST00000260433.2_Missense_Mutation_p.S113I|CYP19A1_ENST00000557858.1_Missense_Mutation_p.S113I	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	113					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GAATCGAGAGCTGTAATGATT	0.443																																					Melanoma(142;1016 1807 39614 48966 51721)	uc001zyz.4																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(337-339)aGc>aTc		Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						133.0	112.0	119.0					15																	51520089		2196	4293	6489	SO:0001583	missense	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51520089C>A	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.338G>T	15.37:g.51520089C>A	ENSP00000379683:p.Ser113Ile		Somatic				CYP19A1_uc001zza.4_Missense_Mutation_p.S113I|CYP19A1_uc001zzb.2_Missense_Mutation_p.S113I|CYP19A1_uc001zzd.3_Missense_Mutation_p.S113I|CYP19A1_uc010bey.1_Missense_Mutation_p.S113I	p.S113I	NM_031226	NP_112503	WXS	Illumina GAIIx	Phase_I	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	4	589	-			113					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.338G>T	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	4.856	0.159110	0.09236	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.81	-9.54	0.00572	.	0.681915	0.16246	N	0.222910	T	0.24275	0.0588	N	0.00707	-1.245	0.09310	N	1	B;B	0.25521	0.128;0.023	B;B	0.31869	0.137;0.073	T	0.41270	-0.9518	10	0.31617	T	0.26	-0.0022	5.4555	0.16588	0.2518:0.4947:0.1664:0.0871	.	113;113	Q8IYJ7;P11511	.;CP19A_HUMAN	I	113	ENSP00000379683:S113I;ENSP00000260433:S113I;ENSP00000379685:S113I;ENSP00000390614:S113I;ENSP00000383930:S113I;ENSP00000391139:S113I;ENSP00000384389:S113I	ENSP00000260433:S113I	S	-	2	0	CYP19A1	49307381	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.057000	0.14279	-1.675000	0.01459	-1.014000	0.02459	AGC		0.443	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			7	56	0	0	0	1	0	7	56				
OAS2	4939	broad.mit.edu	37	12	113425106	113425106	+	Silent	SNP	C	C	T	rs369863340	byFrequency	TCGA-J8-A4HW-06A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd7d1d09-5c2b-414d-9ec2-e7a7d5665671	269e9978-ced5-4398-9523-947b064a3ca8	g.chr12:113425106C>T	ENST00000342315.4	+	2	655	c.441C>T	c.(439-441)aaC>aaT	p.N147N	OAS2_ENST00000449768.2_Silent_p.N147N|OAS2_ENST00000392583.2_Silent_p.N147N|RP1-71H24.1_ENST00000552784.1_RNA	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	147	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCGCCTTCAACGCTCTGAGTA	0.493													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19067	0.0		0.0	False		,,,				2504	0.001				Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.3																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(439-441)aaC>aaT		Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.		C	,,	0,4406		0,0,2203	48.0	51.0	50.0		441,441,441	-6.3	0.1	12		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OAS2	NM_001032731.1,NM_002535.2,NM_016817.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	147/173,147/688,147/720	113425106	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity	g.chr12:113425106C>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.441C>T	12.37:g.113425106C>T			Somatic				OAS2_uc001tuh.3_Silent_p.N147N|OAS2_uc001tui.1_Silent_p.N147N	p.N147N	NM_016817	NP_058197	WXS	Illumina GAIIx	Phase_I	P29728	OAS2_HUMAN			1	581	+			147			OAS domain 1.		A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	c.441C>T	CCDS31906.1																																																																																				0.493	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			9	37	0	0	0	1	0	9	37				
ANKMY1	51281	broad.mit.edu	37	2	241468502	241468502	+	Missense_Mutation	SNP	T	T	A	rs199953888	byFrequency	TCGA-J8-A4HW-06A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd7d1d09-5c2b-414d-9ec2-e7a7d5665671	269e9978-ced5-4398-9523-947b064a3ca8	g.chr2:241468502T>A	ENST00000272972.3	-	4	852	c.638A>T	c.(637-639)aAt>aTt	p.N213I	ANKMY1_ENST00000401804.1_Missense_Mutation_p.N302I|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.N213I|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000361678.4_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	213							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGGGTCTCATTGATTATGAA	0.512																																						uc010fzd.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(904-906)aAt>aTt		Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.							157.0	158.0	158.0					2																	241468502		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241468502T>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.638A>T	2.37:g.241468502T>A	ENSP00000272972:p.Asn213Ile		Somatic				ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.N213I|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron	p.N302I	NM_016552	NP_057636	WXS	Illumina GAIIx	Phase_I	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	4	1030	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	213					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.905A>T	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.70|13.70	2.314542|2.314542	0.40996|0.40996	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708|ENST00000443318	T;T;T;T|.	0.59906|.	0.28;0.28;0.23;1.22|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.384459|.	0.25526|.	N|.	0.030075|.	T|T	0.72692|0.72692	0.3492|0.3492	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	P;P|.	0.45428|.	0.858;0.858|.	B;B|.	0.37550|.	0.253;0.253|.	T|T	0.73959|0.73959	-0.3818|-0.3818	10|5	0.87932|.	D|.	0|.	-16.7088|-16.7088	12.5648|12.5648	0.56304|0.56304	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	213;213|.	Q4ZFV3;Q9P2S6|.	.;ANKY1_HUMAN|.	I|H	213;213;302;213;213|157	ENSP00000272972:N213I;ENSP00000375847:N213I;ENSP00000385887:N302I;ENSP00000407015:N213I|.	ENSP00000272972:N213I|.	N|Q	-|-	2|3	0|2	ANKMY1|ANKMY1	241117175|241117175	1.000000|1.000000	0.71417|0.71417	0.085000|0.085000	0.20634|0.20634	0.074000|0.074000	0.17049|0.17049	5.342000|5.342000	0.65970|0.65970	1.923000|1.923000	0.55706|0.55706	0.533000|0.533000	0.62120|0.62120	AAT|CAA		0.512	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		29	110	0	0	0	1	0	29	110				
CABLES1	91768	broad.mit.edu	37	18	20774481	20774481	+	Silent	SNP	G	G	A			TCGA-J8-A4HW-06A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd7d1d09-5c2b-414d-9ec2-e7a7d5665671	269e9978-ced5-4398-9523-947b064a3ca8	g.chr18:20774481G>A	ENST00000256925.7	+	3	987	c.987G>A	c.(985-987)cgG>cgA	p.R329R	CABLES1_ENST00000420687.2_Silent_p.R64R|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Silent_p.R2R	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	329	Interacts with CDK3. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAACATGCGGCAACACGATA	0.453																																						uc002kuc.2																			0				breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11						c.(985-987)cgG>cgA		Homo sapiens Cdk5 and Abl enzyme substrate 1 (CABLES1), transcript variant 2, mRNA.							78.0	73.0	75.0					18																	20774481		1928	4142	6070	SO:0001819	synonymous_variant	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20774481G>A	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.987G>A	18.37:g.20774481G>A			Somatic				CABLES1_uc002kub.2_5'UTR|CABLES1_uc002kud.2_Silent_p.R64R	p.R329R	NM_001100619	NP_001094089	WXS	Illumina GAIIx	Phase_I	Q8TDN4	CABL1_HUMAN			2	987	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		329			Interacts with CDK3 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Silent	SNP	ENST00000256925.7	37	c.987G>A	CCDS42417.1																																																																																				0.453	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		3	34	0	0	0	1	0	3	34				
OR5L1	219437	broad.mit.edu	37	11	55579307	55579307	+	Missense_Mutation	SNP	G	G	A	rs112907233	byFrequency	TCGA-J8-A4HW-06A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd7d1d09-5c2b-414d-9ec2-e7a7d5665671	269e9978-ced5-4398-9523-947b064a3ca8	g.chr11:55579307G>A	ENST00000333973.2	+	1	454	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCTATGACCGCTTTGTGGCC	0.522																																						uc001nhw.1																			0		p.R122G(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(364-366)cGc>cAc		Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.		G	HIS/ARG	2,4398	4.2+/-10.8	0,2,2198	209.0	173.0	185.0		365	2.3	0.4	11	dbSNP_132	185	0,8592		0,0,4296	yes	missense	OR5L1	NM_001004738.1	29	0,2,6494	AA,AG,GG		0.0,0.0455,0.0154	benign	122/312	55579307	2,12990	2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579307G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.365G>A	11.37:g.55579307G>A	ENSP00000335529:p.Arg122His		Somatic					p.R122H	NM_001004738	NP_001004738	WXS	Illumina GAIIx	Phase_I	Q8NGL2	OR5L1_HUMAN			0	365	+		all_epithelial(135;0.208)	122					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.365G>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	16.04	3.009204	0.54361	4.55E-4	0.0	ENSG00000186117	ENST00000333973	T	0.77489	-1.1	4.18	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.129928	0.35772	N	0.002992	T	0.77096	0.4080	M	0.85630	2.765	0.27008	N	0.96474	B	0.13145	0.007	B	0.15484	0.013	T	0.70328	-0.4902	10	0.66056	D	0.02	-18.8028	8.8218	0.35030	0.1891:0.0:0.8109:0.0	.	122	Q8NGL2	OR5L1_HUMAN	H	122	ENSP00000335529:R122H	ENSP00000335529:R122H	R	+	2	0	OR5L1	55335883	1.000000	0.71417	0.404000	0.26397	0.975000	0.68041	5.283000	0.65621	0.254000	0.21573	0.435000	0.28638	CGC		0.522	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		21	125	0	0	0	1	0	21	125				
DNAH10	196385	broad.mit.edu	37	12	124332605	124332605	+	Missense_Mutation	SNP	G	G	T			TCGA-J8-A4HW-06A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cd7d1d09-5c2b-414d-9ec2-e7a7d5665671	269e9978-ced5-4398-9523-947b064a3ca8	g.chr12:124332605G>T	ENST00000409039.3	+	32	5583	c.5558G>T	c.(5557-5559)tGt>tTt	p.C1853F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1853	AAA 1. {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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCTTGCTCTGTGTTGTCACC	0.587																																						uc001uft.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5557-5559)tGt>tTt		Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.							128.0	130.0	129.0					12																	124332605		2038	4210	6248	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124332605G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5558G>T	12.37:g.124332605G>T	ENSP00000386770:p.Cys1853Phe		Somatic					p.C1853F	NM_207437	NP_997320	WXS	Illumina GAIIx	Phase_I	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	31	5583	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1853			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5558G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820985	0.90873	.	.	ENSG00000197653	ENST00000409039	T	0.34072	1.38	5.67	5.67	0.87782	ATPase, AAA+ type, core (1);	0.064266	0.64402	U	0.000004	T	0.67942	0.2947	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72956	-0.4134	10	0.87932	D	0	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	1853	Q8IVF4	DYH10_HUMAN	F	1853	ENSP00000386770:C1853F	ENSP00000386770:C1853F	C	+	2	0	DNAH10	122898558	1.000000	0.71417	0.949000	0.38748	0.867000	0.49689	9.853000	0.99521	2.678000	0.91216	0.555000	0.69702	TGT		0.587	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			22	111	0	0	0	1	0	22	111				
