#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_BAM_File	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_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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
BICD1	636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	32490734	32490734	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr12:32490734G>A	ENST00000281474.5	+	7	2657	c.2554G>A	c.(2554-2556)Ggc>Agc	p.G852S	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	852					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.G852S(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGTCAGCAGTGGCACTCAGAG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											106.0	96.0	99.0					12																	32490734		2203	4300	6503	SO:0001583	missense	636			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2554G>A	12.37:g.32490734G>A	ENSP00000281474:p.Gly852Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158348	0.78114	.	.	ENSG00000151746	ENST00000281474	T	0.56776	0.44	4.9	4.9	0.64082	.	0.000000	0.52532	D	0.000074	T	0.52338	0.1728	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.54892	-0.8225	9	.	.	.	.	16.4475	0.83942	0.0:0.0:1.0:0.0	.	852	Q96G01	BICD1_HUMAN	S	852	ENSP00000281474:G852S	.	G	+	1	0	BICD1	32382001	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.760000	0.74939	2.545000	0.85829	0.591000	0.81541	GGC		0.502	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1		NM_001714	
CACNA1F	778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	49072841	49072841	+	Splice_Site	SNP	C	C	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chrX:49072841C>T	ENST00000376265.2	-	27	3331		c.e27+1		CACNA1F_ENST00000376251.1_Splice_Site|CACNA1F_ENST00000323022.5_Splice_Site	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit						axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.?(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGTCCCTCACGCAGGCCAGC	0.572																																																	1	Unknown(1)	kidney(1)											58.0	45.0	49.0					X																	49072841		2203	4299	6502	SO:0001630	splice_region_variant	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3269+1G>A	X.37:g.49072841C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Splice_Site	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738318	0.69304	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.7625	0.78096	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA1F	48959785	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.758000	0.85224	1.964000	0.57103	0.506000	0.49869	.		0.572	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1		NM_005183	Intron
DAZAP1	26528	hgsc.bcm.edu	37	19	1432568	1432569	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr19:1432568_1432569insC	ENST00000233078.4	+	11	1088_1089	c.927_928insC	c.(928-930)cctfs	p.P310fs	DAZAP1_ENST00000336761.6_Frame_Shift_Ins_p.P310fs	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	310	Pro-rich.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGGGGGTTCCTCCTCCACC	0.649																																																	0																																										SO:0001589	frameshift_variant	26528				CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.929dupC	19.37:g.1432570_1432570dupC	ENSP00000233078:p.Pro310fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q96MJ3|Q9NRR9	Frame_Shift_Ins	INS	ENST00000233078.4	37	CCDS12065.1																																																																																				0.649	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3		NM_170711	
ETHE1	23474	hgsc.bcm.edu	37	19	44030464	44030465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr19:44030464_44030465insG	ENST00000292147.2	-	3	329_330	c.263_264insC	c.(262-264)tcgfs	p.S88fs	ZNF575_ENST00000458714.2_Intron|ETHE1_ENST00000600651.1_Frame_Shift_Ins_p.S88fs	NM_014297.3	NP_055112.2	O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	88					cellular nitrogen compound metabolic process (GO:0034641)|glutathione metabolic process (GO:0006749)|hydrogen sulfide metabolic process (GO:0070813)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|sulfur dioxygenase activity (GO:0050313)			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				GGAGCAGCCCCGAGCCTGTAAT	0.614																																																	0																																										SO:0001589	frameshift_variant	23474				CCDS12622.1	19q13.32	2014-06-20				ENSG00000105755	1.13.11.18		23287	protein-coding gene	gene with protein product		608451				19136963	Standard	NM_014297		Approved	YF13H12, HSCO	uc002owp.3	O95571		ENST00000292147.2:c.264dupC	19.37:g.44030465_44030465dupG	ENSP00000292147:p.Ser88fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q96HR0|Q9H001	Frame_Shift_Ins	INS	ENST00000292147.2	37	CCDS12622.1																																																																																				0.614	ETHE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463184.1		NM_014297	
FAM153A	285596	broad.mit.edu;hgsc.bcm.edu	37	5	177166139	177166139	+	Splice_Site	SNP	C	C	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr5:177166139C>A	ENST00000440605.3	-	9	590		c.e9-1		FAM153A_ENST00000510276.1_Splice_Site|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A									p.?(1)		kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCGTCTGCCTGCGTTTAGA	0.438																																																	1	Unknown(1)	kidney(1)											116.0	120.0	119.0					5																	177166139		2198	4300	6498	SO:0001630	splice_region_variant	285596			AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"""NY REN 7 antigen"""					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.307-1G>T	5.37:g.177166139C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K0F3|O94852	Splice_Site	SNP	ENST00000440605.3	37	CCDS34305.1	.	.	.	.	.	.	.	.	.	.	N	3.145	-0.175417	0.06421	.	.	ENSG00000170074	ENST00000510276;ENST00000440605	.	.	.	1.27	1.27	0.21489	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1945	0.20542	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM153A	177098745	0.009000	0.17119	0.012000	0.15200	0.008000	0.06430	0.003000	0.13083	1.071000	0.40834	0.621000	0.83404	.		0.438	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417242.1		NM_173663	Intron
FMR1	2332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	147014114	147014114	+	Splice_Site	SNP	G	G	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chrX:147014114G>T	ENST00000370475.4	+	8	929	c.801G>T	c.(799-801)gaG>gaT	p.E267D	FMR1_ENST00000334557.6_Splice_Site_p.E267D|FMR1_ENST00000218200.8_Splice_Site_p.E267D|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000439526.2_Splice_Site_p.E267D|FMR1_ENST00000370470.1_Splice_Site_p.E267D|FMR1_ENST00000370477.1_Splice_Site_p.E267D|FMR1_ENST00000370471.3_Splice_Site_p.E267D	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	267					central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.E267D(1)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TTTATGGAGAGGTAAATATTT	0.358									Fragile X syndrome																																								1	Substitution - Missense(1)	kidney(1)											128.0	125.0	126.0					X																	147014114		2203	4300	6503	SO:0001630	splice_region_variant	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.801+1G>T	X.37:g.147014114G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	ENST00000370475.4	37	CCDS14682.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801153	0.90538	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.78	5.78	0.91487	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.65502	0.2697	M	0.76002	2.32	0.80722	D	1	B;P;P;D;D	0.89917	0.35;0.751;0.867;1.0;0.996	B;P;P;D;D	0.71414	0.443;0.831;0.794;0.973;0.936	T	0.66452	-0.5920	10	0.51188	T	0.08	-27.921	17.8786	0.88833	0.0:0.0:1.0:0.0	.	267;267;183;267;267	Q8IXW7;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	D	267	ENSP00000218200:E267D;ENSP00000359502:E267D;ENSP00000359508:E267D;ENSP00000359506:E267D;ENSP00000355115:E267D;ENSP00000395923:E267D;ENSP00000359501:E267D	ENSP00000218200:E267D	E	+	3	2	FMR1	146821806	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.400000	0.97290	2.443000	0.82685	0.538000	0.68166	GAG		0.358	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058655.1		NM_002024	Missense_Mutation
GPR148	344561	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	131486857	131486857	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr2:131486857C>T	ENST00000309926.4	+	1	215	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	45				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P45S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCTCAGGGTGCCCAGCTCCAT	0.627																																																	1	Substitution - Missense(1)	kidney(1)											79.0	71.0	74.0					2																	131486857		2203	4300	6503	SO:0001583	missense	344561			AY255532	CCDS2163.1	2q21.2	2012-08-21			ENSG00000173302	ENSG00000173302		"""GPCR / Class A : Orphans"""	23623	protein-coding gene	gene with protein product						12679517	Standard	NM_207364		Approved	PGR6	uc002trv.2	Q8TDV2	OTTHUMG00000131655	ENST00000309926.4:c.133C>T	2.37:g.131486857C>T	ENSP00000308908:p.Pro45Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M369|Q86SP7|Q86U87	Missense_Mutation	SNP	ENST00000309926.4	37	CCDS2163.1	.	.	.	.	.	.	.	.	.	.	.	13.08	2.131113	0.37630	.	.	ENSG00000173302	ENST00000309926	T	0.35605	1.3	2.97	-3.76	0.04359	.	0.939982	0.08667	N	0.911494	T	0.09512	0.0234	N	0.08118	0	0.09310	N	1	P	0.43857	0.819	B	0.32724	0.151	T	0.20438	-1.0275	10	0.06099	T	0.92	-11.1141	2.0198	0.03506	0.2883:0.3193:0.2856:0.1068	.	45	Q8TDV2	GP148_HUMAN	S	45	ENSP00000308908:P45S	ENSP00000308908:P45S	P	+	1	0	GPR148	131203327	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.204000	0.09425	-0.613000	0.05694	0.462000	0.41574	CCC		0.627	GPR148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254552.3		XM_293092	
IL4R	3566	broad.mit.edu;hgsc.bcm.edu	37	16	27367167	27367167	+	Missense_Mutation	SNP	G	G	A	rs574403910		TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr16:27367167G>A	ENST00000395762.2	+	8	968	c.709G>A	c.(709-711)Gtc>Atc	p.V237I	IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000170630.2_Missense_Mutation_p.V237I|IL4R_ENST00000380922.3_Missense_Mutation_p.V222I|IL4R_ENST00000543915.2_Missense_Mutation_p.V237I	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	237					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)	p.V237I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTGCTGGGCGTCAGCGTTTC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18228	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											142.0	109.0	120.0					16																	27367167		2197	4300	6497	SO:0001583	missense	3566			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.709G>A	16.37:g.27367167G>A	ENSP00000379111:p.Val237Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875632	0.33162	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.11495	2.77;2.77;2.81;2.77	4.6	3.62	0.41486	.	2.425450	0.01272	N	0.009468	T	0.11281	0.0275	L	0.55481	1.735	0.09310	N	1	P;P;P	0.43519	0.809;0.809;0.809	B;B;B	0.30316	0.114;0.086;0.086	T	0.35943	-0.9768	10	0.33141	T	0.24	-20.6487	7.6584	0.28389	0.122:0.0:0.878:0.0	.	222;237;237	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	I	237;237;222;237	ENSP00000379111:V237I;ENSP00000441667:V237I;ENSP00000370309:V222I;ENSP00000170630:V237I	ENSP00000170630:V237I	V	+	1	0	IL4R	27274668	0.205000	0.23458	0.023000	0.16930	0.002000	0.02628	1.229000	0.32600	1.104000	0.41587	0.561000	0.74099	GTC		0.617	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			
MECP2	4204	broad.mit.edu;ucsc.edu	37	X	153296886	153296886	+	Silent	SNP	G	G	C	rs61748385		TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chrX:153296886G>C	ENST00000303391.6	-	4	642	c.393C>G	c.(391-393)gcC>gcG	p.A131A	MECP2_ENST00000407218.1_Silent_p.A131A|MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000453960.2_Silent_p.A143A	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	131	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)	p.A131A(1)		breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGAGCGAAAGGCTTTTCCCT	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											77.0	75.0	76.0					X																	153296886		2203	4300	6503	SO:0001819	synonymous_variant	4204			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.393C>G	X.37:g.153296886G>C		Somatic		WXS	Illumina GAIIx	Phase_I	O15233|Q6QHH9|Q7Z384	Silent	SNP	ENST00000303391.6	37	CCDS14741.1																																																																																				0.502	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1		NM_004992	
NCOA3	8202	hgsc.bcm.edu	37	20	46279866	46279866	+	Silent	SNP	A	A	G	rs578139784|rs112826888|rs1132443	byFrequency	TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr20:46279866A>G	ENST00000371998.3	+	20	3983	c.3792A>G	c.(3790-3792)caA>caG	p.Q1264Q	NCOA3_ENST00000371997.3_Silent_p.Q1255Q|NCOA3_ENST00000341724.6_Silent_p.Q1190Q|NCOA3_ENST00000372004.3_Silent_p.Q1260Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1264	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcaacagcaacagc	0.567													G|||	599	0.119609	0.2186	0.0663	5008	,	,		14499	0.0873		0.0726	False		,,,				2504	0.1053																0								G	,,,	561,3841		126,309,1766	56.0	66.0	62.0		3789,3765,3780,3792	0.0	0.2	20	dbSNP_86	62	436,8164		30,376,3894	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	156,685,5660	GG,GA,AA		5.0698,12.7442,7.6681	,,,	1263/1424,1255/1416,1260/1421,1264/1425	46279866	997,12005	2201	4300	6501	SO:0001819	synonymous_variant	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3792A>G	20.37:g.46279866A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534	
DPM1	8813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	49576093	49576093	+	5'Flank	SNP	C	C	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr20:49576093C>T	ENST00000371588.5	-	0	0				MOCS3_ENST00000244051.1_Silent_p.N238N|DPM1_ENST00000466152.1_5'Flank|DPM1_ENST00000371582.4_5'Flank|DPM1_ENST00000371583.5_5'Flank	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)	p.N238N(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CAGTGACCAACTGCGCGGACG	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											58.0	64.0	62.0					20																	49576093		2203	4300	6503	SO:0001631	upstream_gene_variant	27304			AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742		20.37:g.49576093C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	O15157|Q6IB78|Q96HK0	Silent	SNP	ENST00000371588.5	37	CCDS13434.1																																																																																				0.622	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1		NM_003859	
OR13C8	138802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	107332250	107332250	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr9:107332250G>T	ENST00000335040.1	+	1	802	c.802G>T	c.(802-804)Gtt>Ttt	p.V268F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V268F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TAAAGCCTCTGTTGATTCAGG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											110.0	96.0	101.0					9																	107332250		2203	4300	6503	SO:0001583	missense	138802				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.802G>T	9.37:g.107332250G>T	ENSP00000334068:p.Val268Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.598170	0.00857	.	.	ENSG00000186943	ENST00000335040	T	0.00145	8.67	4.34	-2.04	0.07343	GPCR, rhodopsin-like superfamily (1);	1.172930	0.06406	N	0.719660	T	0.00109	0.0003	N	0.25890	0.77	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.05162	-1.0902	10	0.10636	T	0.68	.	3.7293	0.08487	0.4224:0.0:0.302:0.2756	.	268	Q8NGS7	O13C8_HUMAN	F	268	ENSP00000334068:V268F	ENSP00000334068:V268F	V	+	1	0	OR13C8	106372071	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.642000	0.00406	-0.401000	0.07644	-1.069000	0.02264	GTT		0.448	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			
OR2F2	135948	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	143633180	143633180	+	Silent	SNP	G	G	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr7:143633180G>A	ENST00000408955.2	+	1	922	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L285L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TGCCTCTGCTGAACCCTGTGA	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	86.0	85.0					7																	143633180		2159	4289	6448	SO:0001819	synonymous_variant	135948				CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.855G>A	7.37:g.143633180G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4D2G0|Q6IFP8	Silent	SNP	ENST00000408955.2	37	CCDS43666.1																																																																																				0.458	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			
OR51L1	119682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5020987	5020987	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr11:5020987G>A	ENST00000321543.1	+	1	775	c.775G>A	c.(775-777)Ggg>Agg	p.G259R		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G259R(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCAGTTATTGGGGTGTCAAT	0.473																																																	1	Substitution - Missense(1)	kidney(1)											211.0	183.0	192.0					11																	5020987		2201	4298	6499	SO:0001583	missense	119682			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.775G>A	11.37:g.5020987G>A	ENSP00000322156:p.Gly259Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.393962	0.42410	.	.	ENSG00000176798	ENST00000321543	T	0.00107	8.72	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43260	D	0.000588	T	0.00580	0.0019	M	0.91872	3.25	0.26238	N	0.978913	D	0.89917	1.0	D	0.97110	1.0	T	0.30995	-0.9959	10	0.87932	D	0	.	11.3344	0.49494	0.0:0.0:0.819:0.181	.	259	Q8NGJ5	O51L1_HUMAN	R	259	ENSP00000322156:G259R	ENSP00000322156:G259R	G	+	1	0	OR51L1	4977563	0.019000	0.18553	1.000000	0.80357	0.979000	0.70002	1.481000	0.35476	2.746000	0.94184	0.650000	0.86243	GGG		0.473	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1		NM_001004755	
OR52E8	390079	broad.mit.edu;hgsc.bcm.edu	37	11	5878479	5878479	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr11:5878479C>T	ENST00000537935.1	-	1	485	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G152S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGCAATGCCTGCAATGAGG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											161.0	179.0	173.0					11																	5878479		2157	4296	6453	SO:0001583	missense	390079			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.454G>A	11.37:g.5878479C>T	ENSP00000444054:p.Gly152Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B9EH38	Missense_Mutation	SNP	ENST00000537935.1	37	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	C	9.412	1.080746	0.20309	.	.	ENSG00000183269	ENST00000537935	T	0.37584	1.19	4.35	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.380247	0.22156	N	0.063850	T	0.25082	0.0609	L	0.31926	0.97	0.09310	N	1	B	0.14012	0.009	B	0.18263	0.021	T	0.16660	-1.0395	10	0.36615	T	0.2	.	8.4314	0.32759	0.1647:0.515:0.3202:0.0	.	152	Q6IFG1	O52E8_HUMAN	S	152	ENSP00000444054:G152S	ENSP00000444054:G152S	G	-	1	0	OR52E8	5835055	0.000000	0.05858	0.029000	0.17559	0.519000	0.34347	-0.135000	0.10420	0.488000	0.27723	0.549000	0.68633	GGC		0.502	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1		NM_001005168	
PRDM2	7799	hgsc.bcm.edu	37	1	14105142	14105142	+	Missense_Mutation	SNP	T	T	A	rs151133690	byFrequency	TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr1:14105142T>A	ENST00000235372.7	+	8	1708	c.852T>A	c.(850-852)gaT>gaA	p.D284E	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.D284E|PRDM2_ENST00000413440.1_Missense_Mutation_p.D83E|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.D83E	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	284	Asp/Glu-rich (acidic).			EDEEEEEDDDDDELEDEG -> VGGGGGVVVVVSWKARGE (in Ref. 6; AAA87023). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		aagaagatgatgatgatgatg	0.478																																																	0								A	GLU/ASP,,GLU/ASP,GLU/ASP	0,4406		0,0,2203	65.0	65.0	65.0		249,,852,852	-10.8	0.1	1	dbSNP_134	65	1,8599	819.1+/-406.8	0,1,4299	yes	missense,intron,missense,missense	PRDM2	NM_001007257.2,NM_001135610.1,NM_012231.4,NM_015866.4	45,,45,45	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	benign,,benign,benign	83/1482,,284/1719,284/1683	14105142	1,13005	2203	4300	6503	SO:0001583	missense	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.852T>A	1.37:g.14105142T>A	ENSP00000235372:p.Asp284Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.545517	0.00926	0.0	1.16E-4	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01527	4.93;4.8;4.86;4.86	5.4	-10.8	0.00216	.	0.350509	0.23949	N	0.042979	T	0.00637	0.0021	N	0.08118	0	0.09310	N	0.999996	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.001	T	0.40608	-0.9554	10	0.02654	T	1	.	8.7593	0.34665	0.3639:0.0:0.4346:0.2015	rs62641612	284;142;284;284	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	E	284;284;284;83;83	ENSP00000235372:D284E;ENSP00000312352:D284E;ENSP00000411103:D83E;ENSP00000341621:D83E	ENSP00000235372:D284E	D	+	3	2	PRDM2	13977729	0.005000	0.15991	0.066000	0.19879	0.053000	0.15095	-5.963000	0.00088	-2.129000	0.00817	-4.500000	0.00005	GAT		0.478	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2		NM_012231	
SLC38A10	124565	hgsc.bcm.edu	37	17	79225074	79225075	+	Intron	INS	-	-	T	rs142504417|rs386799869|rs147245242	byFrequency	TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr17:79225074_79225075insT	ENST00000374759.3	-	14	2449				SLC38A10_ENST00000288439.5_Frame_Shift_Ins_p.H762fs	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10						amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCCGCAGGTGTTTAAAGGGGA	0.515													TTT|TTT|TTTT|insertion	425	0.0848642	0.2625	0.0418	5008	,	,		17888	0.0		0.0388	False		,,,				2504	0.0102																0									,	811,3449		102,607,1421					,	-3.9	0.0		dbSNP_134	67	326,7926		9,308,3809	no	frameshift,intron	SLC38A10	NM_138570.2,NM_001037984.1	,	111,915,5230	A1A1,A1R,RR		3.9506,19.0376,9.0873	,	,		1137,11375				SO:0001627	intron_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.2065+217->A	17.37:g.79225077_79225077dupT		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZRC5|Q8NA99|Q96C66	Frame_Shift_Ins	INS	ENST00000374759.3	37	CCDS42397.1																																																																																				0.515	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1		NM_138570	
STAG1	10274	broad.mit.edu;ucsc.edu	37	3	136062774	136062774	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr3:136062774G>A	ENST00000383202.2	-	30	3602	c.3346C>T	c.(3346-3348)Caa>Taa	p.Q1116*	STAG1_ENST00000236698.5_Nonsense_Mutation_p.Q1116*|STAG1_ENST00000536929.1_Nonsense_Mutation_p.Q700*|STAG1_ENST00000434713.2_Nonsense_Mutation_p.Q856*	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1116					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.Q1116*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GATGTGAGTTGTGGTGCTGGC	0.488																																																	1	Substitution - Nonsense(1)	kidney(1)											127.0	112.0	117.0					3																	136062774		2203	4300	6503	SO:0001587	stop_gained	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3346C>T	3.37:g.136062774G>A	ENSP00000372689:p.Gln1116*	Somatic		WXS	Illumina GAIIx	Phase_I	O00539|Q6P275	Nonsense_Mutation	SNP	ENST00000383202.2	37	CCDS3090.1	.	.	.	.	.	.	.	.	.	.	G	38	6.812156	0.97857	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	.	.	.	5.48	5.48	0.80851	.	0.053095	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.3664	0.94464	0.0:0.0:1.0:0.0	.	.	.	.	X	1116;1116;856;700	.	ENSP00000236698:Q1116X	Q	-	1	0	STAG1	137545464	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	9.435000	0.97529	2.569000	0.86673	0.655000	0.94253	CAA		0.488	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1		NM_005862	
SULT1A2	6799	broad.mit.edu;hgsc.bcm.edu	37	16	28607132	28607132	+	Silent	SNP	G	G	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr16:28607132G>A	ENST00000395630.1	-	2	470	c.120C>T	c.(118-120)gaC>gaT	p.D40D	SULT1A2_ENST00000533150.1_Silent_p.D40D|SULT1A2_ENST00000335715.4_Silent_p.D40D	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	40					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine biosynthetic process (GO:0009309)|catecholamine metabolic process (GO:0006584)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|sulfotransferase activity (GO:0008146)	p.D40D(1)		NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TGATGAGCAGGTCATCAGGCC	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	50.0	50.0					16																	28607132		2197	4300	6497	SO:0001819	synonymous_variant	6799			U34804	CCDS10636.1	16p12.1	2008-02-05			ENSG00000197165	ENSG00000197165	2.8.2.1	"""Sulfotransferases, cytosolic"""	11454	protein-coding gene	gene with protein product		601292		STP2		8661000, 8912648	Standard	NM_001054		Approved	HAST4	uc002dqh.2	P50226	OTTHUMG00000048082	ENST00000395630.1:c.120C>T	16.37:g.28607132G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A9QY25|P78393|Q14CJ7	Silent	SNP	ENST00000395630.1	37	CCDS10636.1																																																																																				0.647	SULT1A2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109415.2		NM_001054	
TAAR5	9038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	132910004	132910004	+	Silent	SNP	G	G	T	rs367936802		TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr6:132910004G>T	ENST00000258034.2	-	1	873	c.822C>A	c.(820-822)gtC>gtA	p.V274V		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	274					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.V274V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGAGGCTGTCGACCATCGTGT	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											95.0	98.0	97.0					6																	132910004		2203	4300	6503	SO:0001819	synonymous_variant	9038			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.822C>A	6.37:g.132910004G>T		Somatic		WXS	Illumina HiSeq	Phase_I	D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	CCDS5156.1																																																																																				0.507	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1		NM_003967	
TAF7L	54457	hgsc.bcm.edu	37	X	100531461	100531461	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chrX:100531461A>C	ENST00000372907.3	-	10	1016	c.1005T>G	c.(1003-1005)gaT>gaG	p.D335E	TAF7L_ENST00000356784.1_Missense_Mutation_p.D249E|TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000324762.6_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	335					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						cctcatcctcatcatcatcat	0.388																																					Ovarian(104;431 1530 3210 15406 18594)												0													230.0	188.0	202.0					X																	100531461		2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1005T>G	X.37:g.100531461A>C	ENSP00000361998:p.Asp335Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	a	1.822	-0.471942	0.04445	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.19250	3.78;2.16	4.32	-8.64	0.00874	Armadillo-like helical (1);	1.650880	0.04088	N	0.310822	T	0.06142	0.0159	N	0.02345	-0.59	0.33173	D	0.548527	B	0.06786	0.001	B	0.06405	0.002	T	0.17653	-1.0362	10	0.02654	T	1	0.5043	9.2416	0.37500	0.1182:0.4381:0.0:0.4437	.	335	Q5H9L4	TAF7L_HUMAN	E	335;249	ENSP00000361998:D335E;ENSP00000349235:D249E	ENSP00000349235:D249E	D	-	3	2	TAF7L	100418117	0.000000	0.05858	0.000000	0.03702	0.497000	0.33675	-2.805000	0.00758	-3.002000	0.00275	0.378000	0.23410	GAT		0.388	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			
TRPC4AP	26133	broad.mit.edu;ucsc.edu	37	20	33596526	33596526	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr20:33596526C>G	ENST00000252015.2	-	13	1625	c.1536G>C	c.(1534-1536)agG>agC	p.R512S	TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R504S|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.R114S|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R473S			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	512					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.R512S(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TTAATAAGCCCCTCTTCCCAT	0.537																																																	1	Substitution - Missense(1)	kidney(1)											114.0	111.0	112.0					20																	33596526		2203	4300	6503	SO:0001583	missense	26133			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1536G>C	20.37:g.33596526C>G	ENSP00000252015:p.Arg512Ser	Somatic		WXS	Illumina GAIIx	Phase_I	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278558	0.40294	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	5.55	-0.1	0.13621	.	0.043555	0.85682	D	0.000000	T	0.30885	0.0779	N	0.20685	0.6	0.44373	D	0.997271	B;B;B	0.33777	0.244;0.425;0.425	B;B;B	0.31812	0.088;0.136;0.136	T	0.03641	-1.1017	9	0.33940	T	0.23	.	8.4418	0.32820	0.0:0.3166:0.0:0.6834	.	473;504;512	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	S	512;504;114;473;497	.	ENSP00000252015:R512S	R	-	3	2	TRPC4AP	33060187	0.998000	0.40836	0.999000	0.59377	0.938000	0.57974	0.412000	0.21131	0.127000	0.18452	-0.345000	0.07892	AGG		0.537	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2		NM_015638	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188197	10188197	+	Splice_Site	SNP	G	G	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr3:10188197G>T	ENST00000256474.2	+	2	1180		c.e2-1		VHL_ENST00000477538.1_Splice_Site|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase						cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.?(10)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGTCCCGATAGGTCACCTTTG	0.537		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	10	Unknown(10)	kidney(10)	GRCh37	CS014769|CS984220	VHL	S							164.0	152.0	156.0					3																	10188197		2203	4300	6503	SO:0001630	splice_region_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.341-1G>T	3.37:g.10188197G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Splice_Site	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763530	0.31228	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3181	0.82935	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VHL	10163197	1.000000	0.71417	0.999000	0.59377	0.124000	0.20399	7.278000	0.78587	2.530000	0.85305	0.563000	0.77884	.		0.537	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	Intron
AHDC1	27245	broad.mit.edu	37	1	27874970	27874970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr1:27874970C>T	ENST00000247087.5	-	5	4253	c.3657G>A	c.(3655-3657)tgG>tgA	p.W1219*	AHDC1_ENST00000374011.2_Nonsense_Mutation_p.W1219*			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1219							DNA binding (GO:0003677)	p.W1219*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CACTCTGGTTCCAGTTGTAGC	0.602																																																	1	Substitution - Nonsense(1)	kidney(1)											50.0	51.0	51.0					1																	27874970		2203	4300	6503	SO:0001587	stop_gained	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.3657G>A	1.37:g.27874970C>T	ENSP00000247087:p.Trp1219*	Somatic		WXS	Illumina GAIIx	Phase_I	Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Nonsense_Mutation	SNP	ENST00000247087.5	37	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	C	46	12.568167	0.99679	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	.	.	.	5.34	5.34	0.76211	.	0.278624	0.26971	U	0.021563	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8111	17.8044	0.88598	0.0:1.0:0.0:0.0	.	.	.	.	X	1219	.	ENSP00000247087:W1219X	W	-	3	0	AHDC1	27747557	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.371000	0.79600	2.490000	0.84030	0.591000	0.81541	TGG		0.602	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			
AMN	81693	broad.mit.edu	37	14	103396005	103396005	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr14:103396005delG	ENST00000299155.5	+	8	807	c.774delG	c.(772-774)ttgfs	p.L259fs		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	259					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGTTGTGTTGCTGACCCACG	0.701																																																	0													8.0	9.0	9.0					14																	103396005		2067	4075	6142	SO:0001589	frameshift_variant	81693			AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"""amnionless homolog (mouse)"""			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.774delG	14.37:g.103396005delG	ENSP00000299155:p.Leu259fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q6UX83	Frame_Shift_Del	DEL	ENST00000299155.5	37	CCDS9977.1																																																																																				0.701	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			
MYO10	4651	broad.mit.edu	37	5	16675008	16675008	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr5:16675008G>T	ENST00000513610.1	-	35	5372	c.4918C>A	c.(4918-4920)Ctg>Atg	p.L1640M	MYO10_ENST00000515803.1_Missense_Mutation_p.L979M|MYO10_ENST00000505695.1_Missense_Mutation_p.L979M|MYO10_ENST00000427430.2_Missense_Mutation_p.L997M|MYO10_ENST00000274203.9_Missense_Mutation_p.L997M	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1640	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.L1640M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGACTCGGCAGGAAGGTGCAG	0.557																																																	1	Substitution - Missense(1)	kidney(1)											108.0	110.0	110.0					5																	16675008		2055	4209	6264	SO:0001583	missense	4651			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.4918C>A	5.37:g.16675008G>T	ENSP00000421280:p.Leu1640Met	Somatic		WXS	Illumina GAIIx	Phase_I	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183630	0.57800	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.91	5.04	0.67666	MyTH4 domain (3);	.	.	.	.	D	0.95812	0.8637	M	0.85859	2.78	0.28910	N	0.892795	P;D;D	0.64830	0.952;0.97;0.994	P;P;P	0.61003	0.793;0.776;0.882	D	0.92391	0.5921	9	0.62326	D	0.03	.	15.2467	0.73511	0.0673:0.0:0.9327:0.0	.	519;1280;1640	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	M	1640;979;997;979;997	ENSP00000421280:L1640M;ENSP00000425051:L979M;ENSP00000274203:L997M;ENSP00000421170:L979M;ENSP00000391106:L997M	ENSP00000274203:L997M	L	-	1	2	MYO10	16728008	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	1.377000	0.34317	1.506000	0.48736	0.655000	0.94253	CTG		0.557	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1		NM_012334	
NME2P1	283458	broad.mit.edu	37	12	120720306	120720306	+	IGR	SNP	C	C	T	rs558049254	byFrequency	TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr12:120720306C>T								PXN (16732 upstream) : RNU4-2 (9259 downstream)														p.N67N(1)									AGGGGCTGAACGTCGTGAAGA	0.567													C|||	4	0.000798722	0.003	0.0	5008	,	,		18143	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)																																								SO:0001628	intergenic_variant	283458																															12.37:g.120720306C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.567									
RAB22A	57403	broad.mit.edu	37	20	56886167	56886167	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr20:56886167C>A	ENST00000244040.3	+	2	386	c.105C>A	c.(103-105)aaC>aaA	p.N35K	PPP4R1L_ENST00000462333.1_5'Flank|PPP4R1L_ENST00000244070.3_5'Flank|RAB22A_ENST00000488949.1_3'UTR|PPP4R1L_ENST00000334187.8_5'Flank	NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	35					endocytosis (GO:0006897)|endosome organization (GO:0007032)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.N35K(1)		endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			CAAACATCAACCCAACAATAG	0.408																																																	1	Substitution - Missense(1)	kidney(1)											196.0	179.0	185.0					20																	56886167		2203	4300	6503	SO:0001583	missense	57403			AF091034	CCDS33497.1	20q13	2008-07-03			ENSG00000124209	ENSG00000124209		"""RAB, member RAS oncogene"""	9764	protein-coding gene	gene with protein product		612966					Standard	NM_020673		Approved		uc002xyz.3	Q9UL26	OTTHUMG00000032844	ENST00000244040.3:c.105C>A	20.37:g.56886167C>A	ENSP00000244040:p.Asn35Lys	Somatic		WXS	Illumina GAIIx	Phase_I	B3KR86|E1P605|Q8TF12|Q9H4E6	Missense_Mutation	SNP	ENST00000244040.3	37	CCDS33497.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336923	0.24253	.	.	ENSG00000124209	ENST00000244040	T	0.75589	-0.95	5.24	0.409	0.16382	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	N	0.04746	-0.17	0.58432	D	0.999995	P	0.50443	0.935	P	0.46208	0.507	T	0.37934	-0.9684	10	0.22109	T	0.4	-28.6014	4.2139	0.10524	0.158:0.4684:0.0:0.3735	.	35	Q9UL26	RB22A_HUMAN	K	35	ENSP00000244040:N35K	ENSP00000244040:N35K	N	+	3	2	RAB22A	56319573	0.999000	0.42202	1.000000	0.80357	0.436000	0.31835	0.469000	0.22067	0.265000	0.21872	-1.478000	0.00992	AAC		0.408	RAB22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079880.2			
TBC1D3P2	440452	broad.mit.edu	37	17	60347011	60347011	+	IGR	SNP	A	A	G			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr17:60347011A>G	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							GGAGGATGTAAAGTAGTTCCC	0.483																																																	0																																										SO:0001628	intergenic_variant	440452																															17.37:g.60347011A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000602932.1	37																																																																																					0.483	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			
TBC1D3P2	440452	broad.mit.edu	37	17	60347013	60347013	+	IGR	SNP	G	G	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr17:60347013G>A	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							AGGATGTAAAGTAGTTCCCGC	0.478																																																	0																																										SO:0001628	intergenic_variant	440452																															17.37:g.60347013G>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000602932.1	37		.	.	.	.	.	.	.	.	.	.	.	2.434	-0.330147	0.05314	.	.	ENSG00000188755	ENST00000339120	.	.	.	.	.	.	.	.	.	.	.	T	0.35393	0.0930	.	.	.	.	.	.	.	.	.	.	.	.	T	0.42982	-0.9419	3	0.87932	D	0	.	3.8218	0.08839	0.6648:0.0:0.3352:0.0	.	.	.	.	I	153	.	ENSP00000339793:T153I	T	-	2	0	AC053481.1	57701795	1.000000	0.71417	0.037000	0.18230	0.038000	0.13279	2.418000	0.44662	-1.372000	0.02137	-1.353000	0.01230	ACT		0.478	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			
LOC101928580	101928580	broad.mit.edu	37	11	74034364	74034364	+	lincRNA	DEL	A	A	-			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr11:74034364delA	ENST00000502071.2	+	0	992																											acctctagacaaaaaaaaacc	0.358																																																	0																																												0																															11.37:g.74034364delA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000502071.2	37																																																																																					0.358	RP11-632K5.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000398323.1			
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chrX:155252868T>A	ENST00000461007.1	+	0	1876				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632																																																	5	Substitution - coding silent(5)	kidney(3)|endometrium(2)																																										0			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252868T>A		Somatic		WXS	Illumina GAIIx	Phase_I	A6NGF1|Q8N305	Silent	SNP	ENST00000461007.1	37																																																																																					0.632	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1		NG_008380	
WNT5B	81029	broad.mit.edu	37	12	1755046	1755046	+	Silent	SNP	C	C	T			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chr12:1755046C>T	ENST00000397196.2	+	5	940	c.708C>T	c.(706-708)gcC>gcT	p.A236A	WNT5B_ENST00000310594.3_Silent_p.A236A|WNT5B_ENST00000537031.1_Silent_p.A236A|WNT5B_ENST00000545747.1_3'UTR|WNT5B_ENST00000542408.1_3'UTR	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	236					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)	p.A236A(1)		skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TGCAGCTGGCCGAGTTCCGCA	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											30.0	35.0	34.0					12																	1755046		2201	4288	6489	SO:0001819	synonymous_variant	81029			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.708C>T	12.37:g.1755046C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A8K315|D3DUP9|Q96S49|Q9BV04	Silent	SNP	ENST00000397196.2	37	CCDS8510.1																																																																																				0.647	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			
STAG2	10735	broad.mit.edu	37	X	123191777	123191777	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-4700-01A-02D-1534-10	TCGA-B0-4700-11A-01D-1534-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	32cb433f-359c-44c3-b2df-d2a64df90175	19aa82fd-3e4f-4313-bd96-53da79284a94	g.chrX:123191777C>G	ENST00000371160.1	+	15	1656	c.1366C>G	c.(1366-1368)Cca>Gca	p.P456A	STAG2_ENST00000218089.9_Missense_Mutation_p.P456A|STAG2_ENST00000371145.3_Missense_Mutation_p.P456A|STAG2_ENST00000354548.5_Missense_Mutation_p.P387A|STAG2_ENST00000371144.3_Missense_Mutation_p.P456A|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.P456A	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	456					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.P456A(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAGACAAGGTCCAAATGCCAA	0.328																																						.											2	Substitution - Missense(2)	kidney(2)											141.0	131.0	134.0					X																	123191777		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1366C>G	X.37:g.123191777C>G	ENSP00000360202:p.Pro456Ala	Somatic		WXS	Illumina GAIIx	Phase_I	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037345	0.54896	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T;T	0.43688	1.9;0.94;1.51;1.5;1.5;1.9;1.5	5.74	5.74	0.90152	Armadillo-type fold (1);	0.121946	0.56097	D	0.000024	T	0.39682	0.1087	L	0.39397	1.21	0.51233	D	0.999919	B;B	0.26708	0.026;0.157	B;B	0.29524	0.025;0.103	T	0.12142	-1.0559	10	0.30078	T	0.28	-12.3749	18.8857	0.92376	0.0:1.0:0.0:0.0	.	456;456	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	A	456;456;387;456;456;456;456	ENSP00000218089:P456A;ENSP00000397265:P456A;ENSP00000346555:P387A;ENSP00000360202:P456A;ENSP00000360199:P456A;ENSP00000360187:P456A;ENSP00000360186:P456A	ENSP00000218089:P456A	P	+	1	0	STAG2	123019458	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.822000	0.69265	2.407000	0.81776	0.600000	0.82982	CCA		0.328	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603	
