#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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
SETD1A	9739	broad.mit.edu	37	16	30983037	30983037	+	Missense_Mutation	SNP	G	G	T			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr16:30983037G>T	ENST00000262519.8	+	13	4041	c.3355G>T	c.(3355-3357)Gca>Tca	p.A1119S		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1119	Pro-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGCAAGGCCTGCAGGTAGGTG	0.577																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3355-3357)Gca>Tca		SET domain containing 1A							26.0	25.0	25.0					16																	30983037		2186	4268	6454	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30983037G>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3355G>T	16.37:g.30983037G>T	ENSP00000262519:p.Ala1119Ser						p.A1119S	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	4041	+			1119			Pro-rich.		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.3355G>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	8.698	0.909099	0.17833	.	.	ENSG00000099381	ENST00000262519	D	0.94280	-3.39	5.66	2.46	0.29980	.	1.105250	0.06839	N	0.795240	D	0.87958	0.6309	L	0.36672	1.1	0.24743	N	0.99302	B	0.13594	0.008	B	0.16722	0.016	T	0.72877	-0.4159	10	0.10377	T	0.69	.	7.163	0.25675	0.0985:0.4245:0.477:0.0	.	1119	O15047	SET1A_HUMAN	S	1119	ENSP00000262519:A1119S	ENSP00000262519:A1119S	A	+	1	0	SETD1A	30890538	0.167000	0.22975	0.819000	0.32651	0.110000	0.19582	-0.062000	0.11674	0.708000	0.31955	0.467000	0.42956	GCA		0.577	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		3	17	1	0	0.00024832	1	0.00024832	3	17				
SETD2	29072	broad.mit.edu	37	3	47161862	47161862	+	Missense_Mutation	SNP	G	G	C			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr3:47161862G>C	ENST00000409792.3	-	3	4306	c.4264C>G	c.(4264-4266)Cag>Gag	p.Q1422E		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1422					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTCTGTCCTGAAGCTCACCA	0.438			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(4264-4266)Cag>Gag		SET domain containing 2							188.0	180.0	183.0					3																	47161862		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47161862G>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4264C>G	3.37:g.47161862G>C	ENSP00000386759:p.Gln1422Glu						p.Q1422E	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	4306	-		Acute lymphoblastic leukemia(5;0.0169)	1422					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.4264C>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	6.003	0.368904	0.11352	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.88277	-2.36	5.18	5.18	0.71444	.	0.136830	0.34025	N	0.004327	T	0.74839	0.3769	N	0.12182	0.205	0.09310	N	0.999999	B;B	0.26672	0.156;0.156	B;B	0.24541	0.054;0.054	T	0.59247	-0.7490	10	0.23302	T	0.38	.	5.5827	0.17258	0.0764:0.1404:0.6377:0.1455	.	1422;1422	F2Z317;Q9BYW2	.;SETD2_HUMAN	E	1422	ENSP00000386759:Q1422E	ENSP00000386759:Q1422E	Q	-	1	0	SETD2	47136866	0.978000	0.34361	0.999000	0.59377	0.974000	0.67602	2.682000	0.46934	2.690000	0.91761	0.563000	0.77884	CAG		0.438	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		5	65	0	0	0	1	0	5	65				
AHNAK	79026	broad.mit.edu	37	11	62287729	62287729	+	Silent	SNP	C	C	T			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr11:62287729C>T	ENST00000378024.4	-	5	14434	c.14160G>A	c.(14158-14160)aaG>aaA	p.K4720K	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4720					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATGGAGATCTTGGGGGCTT	0.488																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(14158-14160)aaG>aaA		AHNAK nucleoprotein							196.0	197.0	197.0					11																	62287729		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62287729C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14160G>A	11.37:g.62287729C>T						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.K4720K	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14434	-		Melanoma(852;0.155)	4720					A1A586	Silent	SNP	ENST00000378024.4	37	c.14160G>A	CCDS31584.1																																																																																				0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		35	222	0	0	0	1	0	35	222				
NUMBL	9253	broad.mit.edu	37	19	41186839	41186839	+	Silent	SNP	G	G	A			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr19:41186839G>A	ENST00000252891.4	-	6	690	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L	NUMBL_ENST00000599594.1_5'Flank|NUMBL_ENST00000540131.1_Silent_p.L134L|NUMBL_ENST00000598779.1_Silent_p.L134L	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	175	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TTCAGTGCCAGAAAACAGTGG	0.572																																						ENST00000252891.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16						c.(523-525)Ctg>Ttg		numb homolog (Drosophila)-like							109.0	103.0	105.0					19																	41186839		2203	4300	6503	SO:0001819	synonymous_variant	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41186839G>A	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.523C>T	19.37:g.41186839G>A						NUMBL_ENST00000598779.1_Silent_p.L134L|NUMBL_ENST00000540131.1_Silent_p.L134L	p.L175L	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		6	690	-			175			PID.		Q7Z4J9	Silent	SNP	ENST00000252891.4	37	c.523C>T	CCDS12561.1																																																																																				0.572	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756		6	74	0	0	0	1	0	6	74				
F13A1	2162	broad.mit.edu	37	6	6318876	6318876	+	Missense_Mutation	SNP	C	C	T	rs138865075		TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr6:6318876C>T	ENST00000264870.3	-	2	287	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	8					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCTCCAAAGGCGGTCCTGGAA	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		15192	0.001		0.0	False		,,,				2504	0.0					ENST00000264870.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(22-24)Gcc>Acc		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)	C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	160.0	148.0	152.0		22	-9.3	0.0	6	dbSNP_134	152	0,8600		0,0,4300	yes	missense	F13A1	NM_000129.3	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	8/733	6318876	2,13004	2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6318876C>T	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.22G>A	6.37:g.6318876C>T	ENSP00000264870:p.Ala8Thr						p.A8T	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			2	287	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	8					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.22G>A	CCDS4496.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.562	-0.536529	0.04082	4.54E-4	0.0	ENSG00000124491	ENST00000264870;ENST00000441301;ENST00000414279;ENST00000431222	D;D	0.86366	-2.11;-2.11	4.64	-9.28	0.00656	Immunoglobulin E-set (1);	0.839087	0.10764	N	0.636831	T	0.36166	0.0957	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.35151	-0.9800	10	0.05436	T	0.98	.	7.7893	0.29110	0.0906:0.1371:0.0901:0.6822	.	8;8	F5H080;P00488	.;F13A_HUMAN	T	8;8;8;46	ENSP00000264870:A8T;ENSP00000413334:A8T	ENSP00000264870:A8T	A	-	1	0	F13A1	6263875	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.147000	0.01293	-3.050000	0.00260	-1.829000	0.00594	GCC		0.468	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		17	130	0	0	0	1	0	17	130				
EEF1A1	1915	broad.mit.edu	37	6	74229620	74229620	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr6:74229620T>C	ENST00000316292.9	-	1	1121	c.130A>G	c.(130-132)Aag>Gag	p.K44E	EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000309268.6_Missense_Mutation_p.K44E|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K44E	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	44	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCAGCCTCCTTCTCAAATTTT	0.423																																						ENST00000316292.9																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(130-132)Aag>Gag		eukaryotic translation elongation factor 1 alpha 1							127.0	129.0	128.0					6																	74229620		2203	4300	6503	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74229620T>C	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.130A>G	6.37:g.74229620T>C	ENSP00000339063:p.Lys44Glu					EEF1A1_ENST00000309268.6_Missense_Mutation_p.K44E|EEF1A1_ENST00000331523.2_Missense_Mutation_p.K44E	p.K44E	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN			1	1121	-			44					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.130A>G	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380554	0.42207	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	4.15	4.15	0.48705	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	U	0.000000	T	0.23965	0.0580	L	0.39326	1.205	0.80722	D	1	B;B;B;B;B	0.14012	0.002;0.009;0.009;0.009;0.009	B;B;B;B;B	0.26416	0.013;0.069;0.069;0.069;0.069	T	0.21999	-1.0229	10	0.87932	D	0	.	13.6597	0.62359	0.0:0.0:0.0:1.0	.	44;44;44;44;44	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	E	44	ENSP00000339063:K44E;ENSP00000339053:K44E;ENSP00000330054:K44E;ENSP00000348651:K44E;ENSP00000392366:K44E	ENSP00000339053:K44E	K	-	1	0	EEF1A1	74286341	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.669000	0.83911	1.874000	0.54306	0.454000	0.30748	AAG		0.423	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		4	132	0	0	0	1	0	4	132				
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs200454029	byFrequency	TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr13:52864028C>T	ENST00000451298.1	-	0	141																											TAGAATGATACTCCAAAGGAA	0.313																																						ENST00000451298.1																			0																																																			644623							g.chr13:52864028C>T																													13.37:g.52864028C>T						RP11-64P12.8_ENST00000606031.1_RNA								0	141	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.313	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			5	54	0	0	0	1	0	5	54				
TIAM2	26230	broad.mit.edu	37	6	155569142	155569142	+	Missense_Mutation	SNP	G	G	C			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr6:155569142G>C	ENST00000461783.3	+	22	4934	c.3661G>C	c.(3661-3663)Gac>Cac	p.D1221H	TIAM2_ENST00000456144.1_Missense_Mutation_p.D1221H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1221H|TIAM2_ENST00000528391.2_Missense_Mutation_p.D557H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1245H|TIAM2_ENST00000367174.2_Missense_Mutation_p.D597H|TIAM2_ENST00000275246.7_Missense_Mutation_p.D146H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1221H|TIAM2_ENST00000456877.2_Missense_Mutation_p.D533H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1221	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCTAAAACTGACAAAGCCTT	0.448											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3661-3663)Gac>Cac		T-cell lymphoma invasion and metastasis 2							86.0	90.0	89.0					6																	155569142		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155569142G>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3661G>C	6.37:g.155569142G>C	ENSP00000437188:p.Asp1221His		OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1771	TIAM2_ENST00000367174.2_Missense_Mutation_p.D597H|TIAM2_ENST00000528391.2_Missense_Mutation_p.D557H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1221H|TIAM2_ENST00000275246.7_Missense_Mutation_p.D146H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1221H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1245H|TIAM2_ENST00000456877.2_Missense_Mutation_p.D533H|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1221H	p.D1221H			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	22	4934	+		Ovarian(120;0.196)	1221			DH.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3661G>C	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872887	0.91664	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391;ENST00000275246	T;T;T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39;-0.39	5.64	5.64	0.86602	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.76793	0.4037	L	0.60845	1.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.962	D;D;D;D	0.97110	0.993;1.0;0.999;0.927	T	0.75590	-0.3265	10	0.49607	T	0.09	.	19.7013	0.96054	0.0:0.0:1.0:0.0	.	557;1221;1245;1221	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	H	1221;1467;1221;1221;1221;597;1245;1221;533;557;146	ENSP00000437188:D1221H;ENSP00000434901:D1221H;ENSP00000407746:D1221H;ENSP00000327315:D1221H;ENSP00000356142:D597H;ENSP00000353528:D1245H;ENSP00000433348:D1221H;ENSP00000407183:D533H;ENSP00000435335:D557H;ENSP00000275246:D146H	ENSP00000275246:D146H	D	+	1	0	TIAM2	155610834	1.000000	0.71417	0.305000	0.25099	0.857000	0.48899	9.869000	0.99810	2.657000	0.90304	0.655000	0.94253	GAC		0.448	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		13	109	0	0	0	1	0	13	109				
C10orf90	118611	broad.mit.edu	37	10	128153427	128153427	+	Missense_Mutation	SNP	C	C	T			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr10:128153427C>T	ENST00000284694.7	-	4	1492	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	C10orf90_ENST00000544758.1_Missense_Mutation_p.D555N|C10orf90_ENST00000480379.1_5'Flank|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000356858.3_Missense_Mutation_p.D411N	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	458					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AGACAGTCATCGCTTGGAGAG	0.488																																						ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1372-1374)Gat>Aat		chromosome 10 open reading frame 90							114.0	110.0	111.0					10																	128153427		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128153427C>T	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1372G>A	10.37:g.128153427C>T	ENSP00000284694:p.Asp458Asn					C10orf90_ENST00000356858.3_Missense_Mutation_p.D411N|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000544758.1_Missense_Mutation_p.D555N	p.D458N	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	4	1492	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	458					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.1372G>A	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449358	0.01080	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000544758;ENST00000432642	T;T;T	0.17854	2.25;2.25;2.25	4.44	1.36	0.22044	.	0.995724	0.08138	N	0.992091	T	0.04952	0.0133	N	0.02539	-0.55	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.09377	0.004;0.002	T	0.39643	-0.9604	10	0.02654	T	1	-0.2384	3.4459	0.07481	0.0:0.3332:0.2417:0.4251	.	555;458	F5GZL2;Q96M02	.;CJ090_HUMAN	N	411;458;555;458	ENSP00000284694:D458N;ENSP00000444369:D555N;ENSP00000405995:D458N	ENSP00000284694:D458N	D	-	1	0	C10orf90	128143417	0.000000	0.05858	0.000000	0.03702	0.395000	0.30598	-0.094000	0.11094	0.075000	0.16796	0.637000	0.83480	GAT		0.488	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		4	75	0	0	0	1	0	4	75				
SPRY3	10251	broad.mit.edu	37	X	155004226	155004226	+	Silent	SNP	C	C	T			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chrX:155004226C>T	ENST00000302805.2	+	2	1124	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	231	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.F231F(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTCCCTCTTCCTACCCTGCC	0.597																																						ENST00000302805.2																			1	Substitution - coding silent(1)	p.F231F(1)	lung(1)								c.(691-693)ttC>ttT		sprouty homolog 3 (Drosophila)							223.0	203.0	210.0					X																	155004226		2203	4296	6499	SO:0001819	synonymous_variant	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155004226C>T	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.693C>T	X.37:g.155004226C>T							p.F231F	NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN			2	1124	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		231			Cys-rich.|SPR.		A8K0H8	Silent	SNP	ENST00000302805.2	37	c.693C>T	CCDS14769.4																																																																																				0.597	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		4	123	0	0	0	1	0	4	123				
CDC42BPA	8476	broad.mit.edu	37	1	227387293	227387293	+	Missense_Mutation	SNP	T	T	C	rs146827361	byFrequency	TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr1:227387293T>C	ENST00000366769.3	-	4	1706	c.415A>G	c.(415-417)Acc>Gcc	p.T139A	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T139A|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T139A	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAGTGCAAGGTTGTAATCCAT	0.289																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(415-417)Acc>Gcc		CDC42 binding protein kinase alpha (DMPK-like)		T	ALA/THR,ALA/THR	1,4405	2.1+/-5.4	0,1,2202	120.0	118.0	118.0		415,415	4.3	1.0	1	dbSNP_134	118	2,8588	2.2+/-6.3	0,2,4293	yes	missense,missense	CDC42BPA	NM_003607.3,NM_014826.4	58,58	0,3,6495	CC,CT,TT		0.0233,0.0227,0.0231	benign,benign	139/1720,139/1639	227387293	3,12993	2203	4295	6498	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227387293T>C	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.415A>G	1.37:g.227387293T>C	ENSP00000355731:p.Thr139Ala					CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T139A|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T139A|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T139A	p.T139A	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			4	1706	-		all_cancers(173;0.156)|Prostate(94;0.0792)	139			Protein kinase.			Missense_Mutation	SNP	ENST00000366769.3	37	c.415A>G	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.549028	0.45383	2.27E-4	2.33E-4	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1	5.45	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	N	0.05534	-0.03	0.58432	D	0.999996	D;P;B;B	0.63046	0.992;0.916;0.234;0.081	D;P;B;B	0.65874	0.939;0.721;0.14;0.034	T	0.13098	-1.0522	10	0.14252	T	0.57	.	11.0853	0.48082	0.0:0.0724:0.0:0.9276	.	139;139;139;139	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	A	139	ENSP00000355731:T139A;ENSP00000355729:T139A;ENSP00000335341:T139A;ENSP00000355728:T139A;ENSP00000355726:T139A;ENSP00000443275:T139A;ENSP00000355727:T139A	ENSP00000335341:T139A	T	-	1	0	CDC42BPA	225453916	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.201000	0.72124	0.915000	0.36847	0.533000	0.62120	ACC		0.289	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		5	17	0	0	0	1	0	5	17				
NID2	22795	broad.mit.edu	37	14	52505584	52505584	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr14:52505584G>A	ENST00000216286.5	-	9	2137	c.2138C>T	c.(2137-2139)cCc>cTc	p.P713L	NID2_ENST00000541773.1_Missense_Mutation_p.P660L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	713	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CGGGTGTCTGGGGGCGTGCCT	0.517																																						ENST00000216286.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87						c.(2137-2139)cCc>cTc		nidogen 2 (osteonidogen)							142.0	139.0	140.0					14																	52505584		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52505584G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2138C>T	14.37:g.52505584G>A	ENSP00000216286:p.Pro713Leu					NID2_ENST00000541773.1_Missense_Mutation_p.P660L	p.P713L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN			9	2137	-	Breast(41;0.0639)|all_epithelial(31;0.123)		713			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.2138C>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473903	0.43942	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.22539	1.95;1.95	5.95	5.95	0.96441	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.496451	0.24276	N	0.039944	T	0.36166	0.0957	M	0.67953	2.075	0.09310	N	0.999995	B;P;D;P	0.60575	0.409;0.622;0.988;0.741	B;B;P;P	0.58577	0.348;0.275;0.841;0.568	T	0.30416	-0.9979	10	0.27082	T	0.32	.	10.5361	0.45004	0.0:0.1791:0.6901:0.1307	.	307;660;715;713	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	L	713;307;660;715	ENSP00000216286:P713L;ENSP00000443730:P660L	ENSP00000216286:P713L	P	-	2	0	NID2	51575334	0.432000	0.25554	0.165000	0.22776	0.154000	0.21943	1.756000	0.38390	2.829000	0.97493	0.655000	0.94253	CCC		0.517	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			6	47	0	0	0	1	0	6	47				
CDHR5	53841	broad.mit.edu	37	11	618714	618714	+	Silent	SNP	G	G	A	rs554478114		TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr11:618714G>A	ENST00000358353.3	-	14	2167	c.1845C>T	c.(1843-1845)ccC>ccT	p.P615P	IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Silent_p.P615P|IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000397566.1_5'Flank|IRF7_ENST00000330243.5_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	615	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TTCCCATACCGGGGGGCATCG	0.662													N|||	1	0.000199681	0.0	0.0	5008	,	,		16104	0.001		0.0	False		,,,				2504	0.0					ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1843-1845)ccC>ccT		cadherin-related family member 5							117.0	123.0	121.0					11																	618714		2203	4300	6503	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618714G>A	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1845C>T	11.37:g.618714G>A						CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Silent_p.P615P	p.P615P			Q9HBB8	CDHR5_HUMAN			14	2167	-			615			4 X 31 AA approximate tandem repeats.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.1845C>T	CCDS7707.1																																																																																				0.662	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		9	113	0	0	0	1	0	9	113				
EXOC2	55770	broad.mit.edu	37	6	598916	598916	+	Missense_Mutation	SNP	T	T	C			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr6:598916T>C	ENST00000230449.4	-	9	1049	c.914A>G	c.(913-915)gAt>gGt	p.D305G	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	305					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTTTCATAATCATTAATAAC	0.289																																						ENST00000230449.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(913-915)gAt>gGt		exocyst complex component 2							77.0	82.0	80.0					6																	598916		2203	4297	6500	SO:0001583	missense	55770				exocytosis|protein transport			g.chr6:598916T>C	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.914A>G	6.37:g.598916T>C	ENSP00000230449:p.Asp305Gly					EXOC2_ENST00000448181.3_Intron	p.D305G	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	9	1049	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	305					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Missense_Mutation	SNP	ENST00000230449.4	37	c.914A>G	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.058113	0.76074	.	.	ENSG00000112685	ENST00000230449	T	0.56444	0.46	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.66963	0.2843	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72354	-0.4319	10	0.62326	D	0.03	-1.9261	15.2939	0.73888	0.0:0.0:0.0:1.0	.	305	Q96KP1	EXOC2_HUMAN	G	305	ENSP00000230449:D305G	ENSP00000230449:D305G	D	-	2	0	EXOC2	543916	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.665000	0.83852	2.005000	0.58758	0.482000	0.46254	GAT		0.289	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	NM_018303		21	105	0	0	0	1	0	21	105				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	56	0	0	0	1	0	4	56				
ASTN2	23245	broad.mit.edu	37	9	119739005	119739005	+	Missense_Mutation	SNP	G	G	A			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr9:119739005G>A	ENST00000313400.4	-	8	1751	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	ASTN2_ENST00000361209.2_Missense_Mutation_p.R500C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R551C			O75129	ASTN2_HUMAN	astrotactin 2	551					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGTCACTGCGCACACACAGG	0.507																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1651-1653)Cgc>Tgc		astrotactin 2							111.0	89.0	96.0					9																	119739005		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119739005G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1651C>T	9.37:g.119739005G>A	ENSP00000314038:p.Arg551Cys					ASTN2_ENST00000361209.2_Missense_Mutation_p.R500C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.R551C	p.R551C			O75129	ASTN2_HUMAN			8	1751	-			551					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.1651C>T		.	.	.	.	.	.	.	.	.	.	G	21.9	4.219085	0.79464	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.25250	1.92;1.92;1.81;2.0	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.42854	0.1221	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.993;0.999	T	0.05582	-1.0876	9	.	.	.	-23.3294	20.0795	0.97766	0.0:0.0:1.0:0.0	.	500;551;551	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	C	551;551;278;500	ENSP00000314038:R551C;ENSP00000363108:R551C;ENSP00000363098:R278C;ENSP00000354504:R500C	.	R	-	1	0	ASTN2	118778826	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.479000	0.81095	2.747000	0.94245	0.650000	0.86243	CGC		0.507	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		5	43	0	0	0	1	0	5	43				
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-	rs369895963	byFrequency	TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483														289	0.0577077	0.0681	0.0548	5008	,	,		16601	0.003		0.1352	False		,,,				2504	0.0225					ENST00000554725.1																			0																																																			100309464							g.chr14:57509058_57509064delTCCAAGC	BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57509065_57509071delTCCAAGC														0	344	+									RNA	DEL	ENST00000554725.1	37																																																																																						0.483	OTX2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000412895.1	NR_029385		3	4						3	4	---	---	---	---
MTSS1L	92154	broad.mit.edu	37	16	70697852	70697852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QT-A69Q-01A-11D-A35D-08	TCGA-QT-A69Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af53ef2a-743b-413a-8419-1a42630e4b18	6a8060c1-1226-43f0-8b93-e8bfc069275f	g.chr16:70697852delC	ENST00000338779.6	-	15	2246	c.1972delG	c.(1972-1974)gcafs	p.A658fs	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	658					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCGGCCCCTGCCCCGGGGTAC	0.726																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(1972-1974)cafs		metastasis suppressor 1-like							8.0	8.0	8.0					16																	70697852		2121	4177	6298	SO:0001589	frameshift_variant	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70697852delC		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1972delG	16.37:g.70697852delC	ENSP00000341171:p.Ala658fs					FLJ00418_ENST00000597002.1_5'UTR	p.A658fs	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			15	2246	-			658					A6NJI7|Q9BUA8	Frame_Shift_Del	DEL	ENST00000338779.6	37	c.1972delG	CCDS32476.1																																																																																				0.726	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		2	4						2	4	---	---	---	---
