#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
SMG1	23049	broad.mit.edu	37	16	18823096	18823096	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr16:18823096G>A	ENST00000446231.2	-	62	11307	c.10895C>T	c.(10894-10896)tCa>tTa	p.S3632L	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.S3633L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3632	FATC. {ECO:0000255|PROSITE- ProRule:PRU00534, ECO:0000255|PROSITE- ProRule:PRU00535}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCAGCAACTGACATCCTCCT	0.443																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(10894-10896)tCa>tTa		SMG1 phosphatidylinositol 3-kinase-related kinase							303.0	284.0	290.0					16																	18823096		1914	4128	6042	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18823096G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10895C>T	16.37:g.18823096G>A	ENSP00000402515:p.Ser3632Leu					RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.S3633L	p.S3632L			Q96Q15	SMG1_HUMAN			62	11307	-			3632			FATC.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10895C>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130406	0.77549	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	D;D	0.83506	-1.73;-1.73	5.83	5.83	0.93111	PIK-related kinase, FATC (2);Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.56097	D	0.000034	D	0.92280	0.7551	M	0.93420	3.415	0.40662	D	0.982139	P	0.52170	0.951	P	0.54372	0.75	D	0.93900	0.7187	10	0.87932	D	0	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	3632	Q96Q15	SMG1_HUMAN	L	3632;3633	ENSP00000402515:S3632L;ENSP00000374118:S3633L	ENSP00000374118:S3633L	S	-	2	0	SMG1	18730597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.988000	0.76212	2.756000	0.94617	0.655000	0.94253	TCA		0.443	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		13	345	0	0	0	0.001855	0	13	345				
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		56	138	1	0	1.13205e-32	0.014410	1.93543e-32	56	138				
TET3	200424	broad.mit.edu	37	2	74274199	74274199	+	Silent	SNP	T	T	C			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr2:74274199T>C	ENST00000409262.3	+	1	750	c.750T>C	c.(748-750)ccT>ccC	p.P250P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	250					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCCCTTCCTGAGGCCTTGT	0.602																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(748-750)ccT>ccC		tet methylcytosine dioxygenase 3							54.0	56.0	55.0					2																	74274199		2002	4164	6166	SO:0001819	synonymous_variant	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274199T>C		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.750T>C	2.37:g.74274199T>C							p.P250P	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	750	+			250					A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	ENST00000409262.3	37	c.750T>C	CCDS46339.1																																																																																				0.602	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			3	64	0	0	0	0.004672	0	3	64				
NHS	4810	broad.mit.edu	37	X	17743871	17743871	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chrX:17743871C>T	ENST00000380060.3	+	6	1920	c.1582C>T	c.(1582-1584)Cca>Tca	p.P528S	NHS_ENST00000398097.3_Missense_Mutation_p.P372S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	549					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGTGAGGCTCCAAGCAGCCC	0.542																																						ENST00000380060.3																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(1582-1584)Cca>Tca		Nance-Horan syndrome (congenital cataracts and dental anomalies)							59.0	54.0	56.0					X																	17743871		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17743871C>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1582C>T	X.37:g.17743871C>T	ENSP00000369400:p.Pro528Ser					NHS_ENST00000398097.3_Missense_Mutation_p.P372S	p.P528S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN			6	1920	+	Hepatocellular(33;0.183)		528					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.1582C>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	5.720	0.317261	0.10845	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.44083	0.93;0.94	5.86	2.72	0.32119	.	0.563272	0.19833	N	0.105048	T	0.23886	0.0578	L	0.29908	0.895	0.23862	N	0.996634	B;B;B;P	0.41265	0.137;0.034;0.034;0.744	B;B;B;B	0.39027	0.058;0.036;0.036;0.288	T	0.10291	-1.0636	10	0.09843	T	0.71	-2.2613	5.3366	0.15961	0.3306:0.4888:0.105:0.0756	.	549;370;372;528	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	S	528;372;370	ENSP00000369400:P528S;ENSP00000381170:P372S	ENSP00000369397:P370S	P	+	1	0	NHS	17653792	0.903000	0.30736	0.993000	0.49108	0.973000	0.67179	0.049000	0.14099	0.568000	0.29311	0.600000	0.82982	CCA		0.542	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270		26	60	0	0	0	0.006320	0	26	60				
ZFHX4	79776	broad.mit.edu	37	8	77768323	77768323	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr8:77768323C>T	ENST00000521891.2	+	10	9614	c.9166C>T	c.(9166-9168)Cgg>Tgg	p.R3056W	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R3030W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R3011W|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R3011W	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3011	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACCACGGTTCGGCAGCTGAT	0.507										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(9166-9168)Cgg>Tgg		zinc finger homeobox 4							104.0	104.0	104.0					8																	77768323		2012	4177	6189	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768323C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9166C>T	8.37:g.77768323C>T	ENSP00000430497:p.Arg3056Trp	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.R3011W|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R3030W|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R3011W	p.R3056W	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	9614	+			3011			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9166C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.81	1.750699	0.31046	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.57436	0.4;0.46;0.42;0.4	5.33	3.51	0.40186	.	0.000000	0.37483	U	0.002078	T	0.70133	0.3189	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.73304	-0.4025	10	0.72032	D	0.01	.	13.8512	0.63499	0.464:0.536:0.0:0.0	.	3011;3011;3056	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	W	3056;3040;3011;3011;3030	ENSP00000430497:R3056W;ENSP00000399605:R3011W;ENSP00000050961:R3011W;ENSP00000430848:R3030W	ENSP00000050961:R3011W	R	+	1	2	ZFHX4	77930878	1.000000	0.71417	0.162000	0.22713	0.613000	0.37349	4.022000	0.57203	0.796000	0.33947	0.655000	0.94253	CGG		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	117	0	0	0	0.001168	0	6	117				
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.I261V(1)	kidney(1)																																																0							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C								NR_024241.1						0	820	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		3	48	0	0	0	0.000602	0	3	48				
PLXNB3	5365	broad.mit.edu	37	X	153033718	153033718	+	Silent	SNP	G	G	A	rs558515318		TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chrX:153033718G>A	ENST00000361971.5	+	4	1215	c.1101G>A	c.(1099-1101)tcG>tcA	p.S367S	PLXNB3_ENST00000538966.1_Silent_p.S390S|PLXNB3_ENST00000538776.1_Silent_p.S20S|PLXNB3_ENST00000538543.1_Intron|U52111.14_ENST00000434284.1_RNA|U52111.14_ENST00000416854.1_RNA|PLXNB3_ENST00000538282.1_Silent_p.S20S	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	367	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCGAGTCGTACCCCTGTG	0.687																																						ENST00000538966.1																			0				central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.(1168-1170)tcG>tcA		plexin B3							39.0	45.0	43.0					X																	153033718		2203	4297	6500	SO:0001819	synonymous_variant	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153033718G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1101G>A	X.37:g.153033718G>A						PLXNB3_ENST00000538776.1_Silent_p.S20S|PLXNB3_ENST00000361971.5_Silent_p.S367S|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Silent_p.S20S	p.S390S	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN			5	1441	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		367			Sema.		B7Z3E6|F5H773|Q9HDA4	Silent	SNP	ENST00000361971.5	37	c.1170G>A	CCDS14729.1																																																																																				0.687	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			37	51	0	0	0	0.007835	0	37	51				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	12	0	0	0	0.004672	0	3	12				
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342197T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342197T>C														0	1956	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.488	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	19	0	0	0	0.004672	0	3	19				
TTF1	7270	broad.mit.edu	37	9	135275452	135275452	+	Silent	SNP	A	A	G			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr9:135275452A>G	ENST00000334270.2	-	3	1600	c.1561T>C	c.(1561-1563)Ttg>Ctg	p.L521L		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	521					chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		AACCGTTCCAAGTCGTCCCGG	0.473																																						ENST00000334270.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1561-1563)Ttg>Ctg		transcription termination factor, RNA polymerase I							180.0	166.0	171.0					9																	135275452		2203	4300	6503	SO:0001819	synonymous_variant	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135275452A>G	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.1561T>C	9.37:g.135275452A>G							p.L521L	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	3	1600	-		Myeloproliferative disorder(178;0.204)	521					A1L160|Q4VXF3|Q58EY2|Q6P5T5	Silent	SNP	ENST00000334270.2	37	c.1561T>C	CCDS6948.1																																																																																				0.473	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		54	101	0	0	0	0.014410	0	54	101				
TBC1D4	9882	broad.mit.edu	37	13	75936554	75936554	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr13:75936554T>C	ENST00000377636.3	-	2	1034	c.688A>G	c.(688-690)Agc>Ggc	p.S230G	TBC1D4_ENST00000377625.2_Missense_Mutation_p.S230G|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S230G	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	230					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCGTGCAGGCTGAACTTCTCC	0.597																																						ENST00000377636.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(688-690)Agc>Ggc		TBC1 domain family, member 4							108.0	110.0	109.0					13																	75936554		2061	4205	6266	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75936554T>C	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.688A>G	13.37:g.75936554T>C	ENSP00000366863:p.Ser230Gly					TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S230G|TBC1D4_ENST00000377625.2_Missense_Mutation_p.S230G	p.S230G	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	2	1034	-		Prostate(6;0.014)|Breast(118;0.0982)	230					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.688A>G	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.457698	0.43634	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.03330	3.98;3.97;3.97	5.28	5.28	0.74379	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.07818	0.0196	L	0.45581	1.43	0.80722	D	1	B;P;P	0.52692	0.009;0.955;0.925	B;P;B	0.48552	0.03;0.581;0.377	T	0.11275	-1.0594	10	0.54805	T	0.06	-21.1899	15.1927	0.73060	0.0:0.0:0.0:1.0	.	230;230;230	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	G	230	ENSP00000366863:S230G;ENSP00000395986:S230G;ENSP00000366852:S230G	ENSP00000366852:S230G	S	-	1	0	TBC1D4	74834555	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.977000	0.63792	1.994000	0.58287	0.460000	0.39030	AGC		0.597	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		4	160	0	0	0	0.000602	0	4	160				
PWP2	5822	broad.mit.edu	37	21	45542148	45542148	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr21:45542148T>A	ENST00000291576.7	+	14	1854	c.1727T>A	c.(1726-1728)gTg>gAg	p.V576E		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	576					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GAGAACGCGGTGCAGACGGGC	0.582																																						ENST00000291576.7																			0				cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21						c.(1726-1728)gTg>gAg		PWP2 periodic tryptophan protein homolog (yeast)							145.0	112.0	123.0					21																	45542148		2203	4300	6503	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45542148T>A		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1727T>A	21.37:g.45542148T>A	ENSP00000291576:p.Val576Glu						p.V576E	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	14	1854	+			576					B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.1727T>A	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	T	1.156	-0.645323	0.03531	.	.	ENSG00000241945	ENST00000291576	T	0.03801	3.8	4.96	3.78	0.43462	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.352416	0.31392	N	0.007726	T	0.03011	0.0089	L	0.28274	0.84	0.32353	N	0.5582	B	0.28552	0.215	B	0.26517	0.07	T	0.24870	-1.0148	10	0.02654	T	1	-3.2886	8.7528	0.34629	0.0:0.1514:0.0:0.8486	.	576	Q15269	PWP2_HUMAN	E	576	ENSP00000291576:V576E	ENSP00000291576:V576E	V	+	2	0	PWP2	44366576	0.998000	0.40836	0.743000	0.31040	0.472000	0.32918	2.189000	0.42621	0.954000	0.37851	0.533000	0.62120	GTG		0.582	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		18	100	0	0	0	0.007413	0	18	100				
LMTK2	22853	broad.mit.edu	37	7	97820080	97820080	+	Missense_Mutation	SNP	G	G	A	rs139179986		TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr7:97820080G>A	ENST00000297293.5	+	10	1332	c.1039G>A	c.(1039-1041)Gca>Aca	p.A347T		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	347	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGACAATGCCGCACAGCCGTA	0.458																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(1039-1041)Gca>Aca		lemur tyrosine kinase 2		G	THR/ALA	0,4406		0,0,2203	184.0	194.0	191.0		1039	2.6	1.0	7	dbSNP_134	191	1,8599	1.2+/-3.3	0,1,4299	no	missense	LMTK2	NM_014916.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	347/1504	97820080	1,13005	2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97820080G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1039G>A	7.37:g.97820080G>A	ENSP00000297293:p.Ala347Thr						p.A347T	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			10	1332	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		347			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.1039G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615392	0.66672	0.0	1.16E-4	ENSG00000164715	ENST00000297293	D	0.82984	-1.67	5.42	2.6	0.31112	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.152889	0.64402	N	0.000019	T	0.82061	0.4955	L	0.58101	1.795	0.42251	D	0.991978	D	0.56035	0.974	P	0.51415	0.669	T	0.77480	-0.2572	10	0.34782	T	0.22	.	7.9167	0.29822	0.1393:0.0:0.7306:0.13	.	347	Q8IWU2	LMTK2_HUMAN	T	347	ENSP00000297293:A347T	ENSP00000297293:A347T	A	+	1	0	LMTK2	97658016	1.000000	0.71417	0.991000	0.47740	0.774000	0.43823	2.606000	0.46291	0.346000	0.23899	-0.126000	0.14955	GCA		0.458	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		5	318	0	0	0	0.001168	0	5	318				
SYNE3	161176	broad.mit.edu	37	14	95906371	95906371	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr14:95906371G>C	ENST00000334258.5	-	11	1967	c.1953C>G	c.(1951-1953)tgC>tgG	p.C651W	SYNE3_ENST00000557275.1_Missense_Mutation_p.C651W|SYNE3_ENST00000554873.1_Missense_Mutation_p.C408W	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	651					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GGCTGAAGGTGCAGTGCTCCT	0.682																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(1951-1953)tgC>tgG		spectrin repeat containing, nuclear envelope family member 3							79.0	81.0	80.0					14																	95906371		2203	4300	6503	SO:0001583	missense	161176							g.chr14:95906371G>C	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1953C>G	14.37:g.95906371G>C	ENSP00000334308:p.Cys651Trp					SYNE3_ENST00000557275.1_Missense_Mutation_p.C651W|SYNE3_ENST00000554873.1_Missense_Mutation_p.C408W	p.C651W	NM_152592.3	NP_689805.3					11	1967	-								A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.1953C>G	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.985241	0.35036	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.34275	1.37;1.37;1.37	4.7	-0.92	0.10475	.	0.489617	0.17424	N	0.174735	T	0.25158	0.0611	L	0.43923	1.385	0.80722	D	1	B;B	0.13145	0.005;0.007	B;B	0.16289	0.009;0.015	T	0.06698	-1.0812	10	0.62326	D	0.03	-2.612	5.415	0.16368	0.3954:0.3047:0.2998:0.0	.	651;651	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	W	651;408;651	ENSP00000334308:C651W;ENSP00000452154:C408W;ENSP00000450562:C651W	ENSP00000334308:C651W	C	-	3	2	C14orf49	94976124	0.001000	0.12720	0.812000	0.32479	0.957000	0.61999	0.270000	0.18607	0.022000	0.15160	0.561000	0.74099	TGC		0.682	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		40	85	0	0	0	0.010771	0	40	85				
AGAP2	116986	broad.mit.edu	37	12	58131103	58131103	+	Silent	SNP	G	G	A			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr12:58131103G>A	ENST00000547588.1	-	1	926	c.927C>T	c.(925-927)tcC>tcT	p.S309S	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	309	Interaction with PLCG1. {ECO:0000250}.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GGGGCTGCGCGGAAGCAGCGG	0.687																																						ENST00000547588.1																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(925-927)tcC>tcT		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							41.0	55.0	50.0					12																	58131103		1568	3582	5150	SO:0001819	synonymous_variant	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58131103G>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.927C>T	12.37:g.58131103G>A						AGAP2_ENST00000257897.3_Intron	p.S309S	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN			1	926	-			309			Interaction with PLCG1 (By similarity).		A8K9F7|O00578|Q548E0|Q8IWU3	Silent	SNP	ENST00000547588.1	37	c.927C>T	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.238281	0.01493	.	.	ENSG00000135439	ENST00000328568	.	.	.	4.83	2.89	0.33648	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50676	-0.8800	4	.	.	.	.	7.0637	0.25139	0.1004:0.1791:0.7205:0.0	.	.	.	.	C	173	.	.	R	-	1	0	AGAP2	56417370	0.992000	0.36948	0.992000	0.48379	0.023000	0.10783	1.804000	0.38873	1.120000	0.41904	0.555000	0.69702	CGC		0.687	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		3	58	0	0	0	0.004672	0	3	58				
SNORD3C	780853	broad.mit.edu	37	17	19091395	19091395	+	lincRNA	SNP	C	C	T	rs538295122	byFrequency	TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr17:19091395C>T	ENST00000362428.1	-	0	432				SNORD3A_ENST00000365494.1_lincRNA					small nucleolar RNA, C/D box 3C																		acgtgtagagcaccgaaaacc	0.493													c|||	6	0.00119808	0.0015	0.0	5008	,	,		52661	0.002		0.001	False		,,,				2504	0.001					ENST00000365494.1																			0																				28.0	17.0	21.0					17																	19091395		871	1971	2842			0							g.chr17:19091395C>T			17p11.2	2013-09-05			ENSG00000199298	ENSG00000264940			33191	non-coding RNA	RNA, small nucleolar						9365252	Standard	NR_006881		Approved	U3-3					17.37:g.19091395C>T														0	67	+									RNA	SNP	ENST00000362428.1	37																																																																																						0.493	SNORD3C-201	KNOWN	basic	snoRNA	lincRNA		NR_006881		24	284	0	0	0	0.008361	0	24	284				
SCMH1	22955	broad.mit.edu	37	1	41582675	41582675	+	Silent	SNP	C	C	T			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr1:41582675C>T	ENST00000326197.7	-	6	689	c.390G>A	c.(388-390)cgG>cgA	p.R130R	SCMH1_ENST00000361191.5_Silent_p.R69R|SCMH1_ENST00000372596.1_Silent_p.R69R|SCMH1_ENST00000397174.2_Silent_p.R110R|SCMH1_ENST00000337495.5_Silent_p.R140R|SCMH1_ENST00000397171.2_Silent_p.R69R|SCMH1_ENST00000361705.3_Silent_p.R83R|SCMH1_ENST00000372597.1_Silent_p.R83R|SCMH1_ENST00000402904.2_Silent_p.R130R|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372595.1_Silent_p.R69R					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ACGCATTCAGCCGAAATCCTG	0.478																																						ENST00000402904.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15						c.(388-390)cgG>cgA		sex comb on midleg homolog 1 (Drosophila)							80.0	69.0	73.0					1																	41582675		2203	4300	6503	SO:0001819	synonymous_variant	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41582675C>T	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.390G>A	1.37:g.41582675C>T						SCMH1_ENST00000326197.7_Silent_p.R130R|SCMH1_ENST00000372595.1_Silent_p.R69R|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000397174.2_Silent_p.R110R|SCMH1_ENST00000337495.5_Silent_p.R140R|SCMH1_ENST00000397171.2_Silent_p.R69R|SCMH1_ENST00000372596.1_Silent_p.R69R|SCMH1_ENST00000361191.5_Silent_p.R69R|SCMH1_ENST00000361705.3_Silent_p.R83R|SCMH1_ENST00000372597.1_Silent_p.R83R	p.R130R	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN			7	758	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	130						Silent	SNP	ENST00000326197.7	37	c.390G>A	CCDS30688.1																																																																																				0.478	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1			3	45	0	0	0	0.004672	0	3	45				
GAB4	128954	broad.mit.edu	37	22	17472966	17472966	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr22:17472966C>T	ENST00000400588.1	-	2	382	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.R92P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTTGATGGTGCGCAGGGGCTT	0.502																																						ENST00000400588.1																			1	Substitution - Missense(1)	p.R92P(1)	kidney(1)	breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(274-276)cGc>cAc		GRB2-associated binding protein family, member 4							211.0	222.0	218.0					22																	17472966		2195	4300	6495	SO:0001583	missense	128954							g.chr22:17472966C>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.275G>A	22.37:g.17472966C>T	ENSP00000383431:p.Arg92His					GAB4_ENST00000523144.1_5'UTR	p.R92H	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			2	382	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	92			PH.			Missense_Mutation	SNP	ENST00000400588.1	37	c.275G>A	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296431	0.40594	.	.	ENSG00000215568	ENST00000400588	T	0.12361	2.69	1.81	1.81	0.25067	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	U	0.000001	T	0.32346	0.0826	M	0.75615	2.305	0.52099	D	0.999946	D	0.89917	1.0	D	0.87578	0.998	T	0.08576	-1.0715	10	0.56958	D	0.05	.	9.5993	0.39593	0.0:1.0:0.0:0.0	.	92	Q2WGN9	GAB4_HUMAN	H	92	ENSP00000383431:R92H	ENSP00000383431:R92H	R	-	2	0	GAB4	15852966	1.000000	0.71417	0.953000	0.39169	0.042000	0.13812	6.911000	0.75746	1.301000	0.44836	0.591000	0.81541	CGC		0.502	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		18	244	0	0	0	0.007413	0	18	244				
CCDC129	223075	broad.mit.edu	37	7	31683024	31683024	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr7:31683024G>T	ENST00000407970.3	+	11	2078	c.2040G>T	c.(2038-2040)agG>agT	p.R680S	CCDC129_ENST00000451887.2_Missense_Mutation_p.R706S|CCDC129_ENST00000409210.1_Missense_Mutation_p.R588S|CCDC129_ENST00000319386.3_Missense_Mutation_p.R532S	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	680										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TGAAGTCAAGGTCTGGTACTT	0.483																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1594-1596)agG>agT		coiled-coil domain containing 129							76.0	73.0	74.0					7																	31683024		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31683024G>T	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2040G>T	7.37:g.31683024G>T	ENSP00000384416:p.Arg680Ser					CCDC129_ENST00000451887.2_Missense_Mutation_p.R706S|CCDC129_ENST00000409210.1_Missense_Mutation_p.R588S|CCDC129_ENST00000407970.3_Missense_Mutation_p.R680S	p.R532S			Q6ZRS4	CC129_HUMAN			11	2589	+			680					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1596G>T	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334059	0.24253	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.20738	2.05;2.33;2.31;2.06	4.89	-2.54	0.06307	.	1.488580	0.04272	N	0.342264	T	0.15089	0.0364	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.17268	0.021;0.021;0.021;0.021	B;B;B;B	0.13407	0.009;0.009;0.009;0.009	T	0.26121	-1.0112	10	0.13853	T	0.58	-10.7831	4.6073	0.12383	0.4233:0.3041:0.2726:0.0	.	706;690;680;532	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	S	532;680;706;690;588	ENSP00000313062:R532S;ENSP00000384416:R680S;ENSP00000395835:R706S;ENSP00000387214:R588S	ENSP00000313062:R532S	R	+	3	2	CCDC129	31649549	0.000000	0.05858	0.000000	0.03702	0.503000	0.33858	-0.296000	0.08287	-0.086000	0.12550	0.655000	0.94253	AGG		0.483	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		25	29	1	0	6.32553e-13	0.004656	1.04767e-12	25	29				
LAMC1	3915	broad.mit.edu	37	1	183072526	183072526	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr1:183072526C>G	ENST00000258341.4	+	2	739	c.482C>G	c.(481-483)gCc>gGc	p.A161G		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	161	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GAGAGCTTTGCCATTTACAAG	0.512																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(481-483)gCc>gGc		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						98.0	104.0	102.0					1																	183072526		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183072526C>G	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.482C>G	1.37:g.183072526C>G	ENSP00000258341:p.Ala161Gly						p.A161G	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			2	739	+			161			Laminin N-terminal.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.482C>G	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128598	0.77549	.	.	ENSG00000135862	ENST00000258341	T	0.76316	-1.01	5.34	5.34	0.76211	Laminin, N-terminal (3);	0.050215	0.85682	D	0.000000	D	0.83013	0.5162	M	0.83012	2.62	0.80722	D	1	P;P	0.44380	0.834;0.506	P;B	0.45610	0.487;0.398	T	0.82384	-0.0484	10	0.28530	T	0.3	.	19.0561	0.93066	0.0:1.0:0.0:0.0	.	161;161	P11047;Q6NVY8	LAMC1_HUMAN;.	G	161	ENSP00000258341:A161G	ENSP00000258341:A161G	A	+	2	0	LAMC1	181339149	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.556000	0.82233	2.501000	0.84356	0.655000	0.94253	GCC		0.512	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		61	104	0	0	0	0.014410	0	61	104				
KRT35	3886	broad.mit.edu	37	17	39633418	39633418	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr17:39633418A>G	ENST00000393989.1	-	7	1300	c.1258T>C	c.(1258-1260)Tcc>Ccc	p.S420P	KRT35_ENST00000246639.2_Missense_Mutation_p.S390P	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	420	Tail.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CATGACTTGGAGGGTGAGTAG	0.542																																						ENST00000246639.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1168-1170)Tcc>Ccc		keratin 35							55.0	62.0	60.0					17																	39633418		1971	4153	6124	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39633418A>G	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1258T>C	17.37:g.39633418A>G	ENSP00000377558:p.Ser420Pro					KRT35_ENST00000393989.1_Missense_Mutation_p.S420P	p.S390P			Q92764	KRT35_HUMAN			7	1300	-		Breast(137;0.000286)	420			Coil 2.|Rod.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.1168T>C	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	A	9.160	1.018432	0.19355	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.81996	-1.56;-1.5	5.41	4.33	0.51752	.	0.606715	0.15597	N	0.254113	T	0.78792	0.4339	L	0.58101	1.795	0.33228	D	0.555556	B	0.02656	0.0	B	0.06405	0.002	T	0.77635	-0.2514	10	0.39692	T	0.17	.	9.4108	0.38491	0.8208:0.1792:0.0:0.0	.	420	Q92764	KRT35_HUMAN	P	390;420	ENSP00000246639:S390P;ENSP00000377558:S420P	ENSP00000246639:S390P	S	-	1	0	KRT35	36886944	0.967000	0.33354	0.989000	0.46669	0.115000	0.19883	0.403000	0.20982	1.049000	0.40321	0.460000	0.39030	TCC		0.542	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		3	65	0	0	0	0.004672	0	3	65				
PCDHA6	56142	broad.mit.edu	37	5	140209539	140209539	+	Silent	SNP	G	G	A			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr5:140209539G>A	ENST00000529310.1	+	1	1977	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTTCCCGTTTCGCGTGG	0.657																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1861-1863)ccG>ccA									72.0	76.0	75.0					5																	140209539		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140209539G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1863G>A	5.37:g.140209539G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.P621P	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1977	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1863G>A	CCDS47281.1																																																																																				0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		32	55	0	0	0	0.004289	0	32	55				
UNC45B	146862	broad.mit.edu	37	17	33507620	33507620	+	Missense_Mutation	SNP	C	C	A			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr17:33507620C>A	ENST00000268876.5	+	18	2401	c.2304C>A	c.(2302-2304)aaC>aaA	p.N768K	UNC45B_ENST00000394570.2_Missense_Mutation_p.N766K|UNC45B_ENST00000591048.1_Missense_Mutation_p.N687K|UNC45B_ENST00000433649.1_Missense_Mutation_p.N766K|UNC45B_ENST00000378449.1_Missense_Mutation_p.N687K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	768					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ACATCGAGAACTACATGTTTG	0.557																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(2302-2304)aaC>aaA		unc-45 homolog B (C. elegans)							83.0	78.0	80.0					17																	33507620		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33507620C>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2304C>A	17.37:g.33507620C>A	ENSP00000268876:p.Asn768Lys					UNC45B_ENST00000378449.1_Missense_Mutation_p.N687K|UNC45B_ENST00000433649.1_Missense_Mutation_p.N766K|UNC45B_ENST00000591048.1_Missense_Mutation_p.N687K|UNC45B_ENST00000394570.2_Missense_Mutation_p.N766K	p.N768K	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			18	2401	+		Ovarian(249;0.17)	768					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.2304C>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.614815	0.46631	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T	0.46819	0.86;1.62;0.86	5.2	2.84	0.33178	Armadillo-like helical (1);Armadillo-type fold (1);	0.092791	0.64402	D	0.000001	T	0.48840	0.1522	M	0.69823	2.125	0.39631	D	0.970176	D;P;P	0.56035	0.974;0.692;0.745	P;B;B	0.46758	0.526;0.311;0.164	T	0.51957	-0.8639	10	0.20519	T	0.43	-38.2733	11.9691	0.53053	0.0:0.8307:0.0:0.1693	.	687;766;768	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	K	768;768;766;687	ENSP00000268876:N768K;ENSP00000412840:N766K;ENSP00000367710:N687K	ENSP00000268876:N768K	N	+	3	2	UNC45B	30531733	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.676000	0.46883	1.190000	0.43042	0.462000	0.41574	AAC		0.557	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		30	63	1	0	7.01153e-11	0.007291	1.12609e-10	30	63				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	101	0	0	0	0.004482	0	6	101				
CPNE1	8904	broad.mit.edu	37	20	34218857	34218857	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr20:34218857A>G	ENST00000317619.3	-	13	1355	c.961T>C	c.(961-963)Tgg>Cgg	p.W321R	CPNE1_ENST00000397442.1_Missense_Mutation_p.W321R|CPNE1_ENST00000317677.5_Missense_Mutation_p.W326R|CPNE1_ENST00000397445.1_Missense_Mutation_p.W321R|CPNE1_ENST00000352393.4_Missense_Mutation_p.W321R|CPNE1_ENST00000397446.1_Missense_Mutation_p.W321R|CPNE1_ENST00000397443.1_Missense_Mutation_p.W321R			Q99829	CPNE1_HUMAN	copine I	321	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CCCACACTCCACAGTGCCATC	0.572																																						ENST00000317619.3																			0				breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(961-963)Tgg>Cgg		copine I							150.0	122.0	131.0					20																	34218857		2203	4300	6503	SO:0001583	missense	8904				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity	g.chr20:34218857A>G	U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.961T>C	20.37:g.34218857A>G	ENSP00000326126:p.Trp321Arg					CPNE1_ENST00000397442.1_Missense_Mutation_p.W321R|CPNE1_ENST00000317677.5_Missense_Mutation_p.W326R|CPNE1_ENST00000397445.1_Missense_Mutation_p.W321R|CPNE1_ENST00000397443.1_Missense_Mutation_p.W321R|CPNE1_ENST00000352393.4_Missense_Mutation_p.W321R|CPNE1_ENST00000397446.1_Missense_Mutation_p.W321R	p.W321R			Q99829	CPNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		13	1355	-	Lung NSC(9;0.0053)|all_lung(11;0.00785)		321			VWFA.		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	ENST00000317619.3	37	c.961T>C	CCDS13260.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.622606	0.28889	.	.	ENSG00000214078	ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340;ENST00000430570;ENST00000412056	T;T;T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.91	5.54	4.45	0.53987	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	U	0.000000	T	0.30696	0.0773	L	0.38531	1.155	0.53688	D	0.999972	D;D;B;D	0.89917	1.0;1.0;0.002;1.0	D;D;B;D	0.91635	0.995;0.998;0.03;0.999	T	0.05716	-1.0868	10	0.11182	T	0.66	-10.5341	11.0657	0.47974	0.9276:0.0:0.0724:0.0	.	326;321;321;301	B0QZ18;A6PVH9;Q99829;Q59EI4	.;.;CPNE1_HUMAN;.	R	321;326;321;321;321;321;321;321;297;297	ENSP00000336945:W321R;ENSP00000317257:W326R;ENSP00000326126:W321R;ENSP00000380588:W321R;ENSP00000380587:W321R;ENSP00000380585:W321R;ENSP00000380584:W321R;ENSP00000415597:W321R;ENSP00000390626:W297R;ENSP00000416962:W297R	ENSP00000326126:W321R	W	-	1	0	CPNE1	33682271	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.949000	0.63596	1.128000	0.42052	0.533000	0.62120	TGG		0.572	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078909.3	NM_152930		4	88	0	0	0	0.001168	0	4	88				
URGCP	55665	broad.mit.edu	37	7	43917655	43917663	+	In_Frame_Del	DEL	ACACTCCTC	ACACTCCTC	-			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr7:43917655_43917663delACACTCCTC	ENST00000453200.1	-	6	1892_1900	c.1399_1407delGAGGAGTGT	c.(1399-1407)gaggagtgtdel	p.EEC467del	URGCP_ENST00000336086.6_In_Frame_Del_p.EEC424del|URGCP_ENST00000223341.7_In_Frame_Del_p.EEC424del|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_In_Frame_Del_p.EEC424del|URGCP_ENST00000402306.3_In_Frame_Del_p.EEC458del|URGCP_ENST00000447717.3_In_Frame_Del_p.EEC424del|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	467					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCGCTTTCTGACACTCCTCACAGTCCTCG	0.589																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1270-1278)del		upregulator of cell proliferation																																				SO:0001651	inframe_deletion	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917655_43917663delACACTCCTC		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1399_1407delGAGGAGTGT	7.37:g.43917655_43917663delACACTCCTC	ENSP00000396918:p.Glu467_Cys469del					URGCP_ENST00000447717.3_In_Frame_Del_p.EEC424del|URGCP_ENST00000402306.3_In_Frame_Del_p.EEC458del|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_In_Frame_Del_p.EEC424del|URGCP_ENST00000453200.1_In_Frame_Del_p.EEC467del|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_In_Frame_Del_p.EEC424del	p.EEC424del			Q8TCY9	URGCP_HUMAN			4	3506_3514	-			467					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	In_Frame_Del	DEL	ENST00000453200.1	37	c.1270_1278delGAGGAGTGT	CCDS47578.1																																																																																				0.589	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		13	220						13	220	---	---	---	---
FAM66B	100128890	broad.mit.edu	37	8	7196263	7196264	+	lincRNA	DEL	AC	AC	-			TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703									family with sequence similarity 66, member B																		ACTGAGGGGTacacacacacac	0.5																																						ENST00000606573.1																			0																																																			0							g.chr8:7196263_7196264delAC			8p23.1	2013-07-05			ENSG00000215374	ENSG00000215374		"""Long non-coding RNAs"""	28890	non-coding RNA	RNA, long non-coding							Standard	NR_027423		Approved				OTTHUMG00000165383		8.37:g.7196273_7196274delAC														0	703	-									RNA	DEL	ENST00000606573.1	37																																																																																						0.500	FAM66B-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470344.1	NR_027423		2	4						2	4	---	---	---	---
TG	7038	broad.mit.edu	37	8	133900513	133900517	+	Frame_Shift_Del	DEL	ATTCA	ATTCA	-	rs555902505		TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chr8:133900513_133900517delATTCA	ENST00000220616.4	+	10	2501_2505	c.2461_2465delATTCA	c.(2461-2466)attcaafs	p.IQ821fs	TG_ENST00000377869.1_Frame_Shift_Del_p.IQ821fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	821	Thyroglobulin type-1 7. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGTCTCTTTATTCAAAGTCTGTAT	0.527																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(2461-2466)afs		thyroglobulin																																				SO:0001589	frameshift_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133900513_133900517delATTCA	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2461_2465delATTCA	8.37:g.133900513_133900517delATTCA	ENSP00000220616:p.Ile821fs					TG_ENST00000377869.1_Frame_Shift_Del_p.IQ821fs	p.IQ821fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	10	2501_2505	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	821			Thyroglobulin type-1 7.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Del	DEL	ENST00000220616.4	37	c.2461_2465delATTCA	CCDS34944.1																																																																																				0.527	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		20	41						20	41	---	---	---	---
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	lincRNA	INS	-	-	A	rs397771084|rs58093396		TCGA-ET-A25I-01A-11D-A16O-08	TCGA-ET-A25I-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69fbd819-2f6b-4fd4-86dd-f9370cbbcd95	010ad109-f038-42e6-9efb-a24f5c53ea11	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174				MIR374A_ENST00000362298.1_RNA|MIR545_ENST00000385085.1_RNA					FTX transcript, XIST regulator (non-protein coding)																		acctgtcccttaaaaaaaaaaa	0.455													|||unknown(HR)	2504	0.663311	0.4841	0.4856	3775	,	,		12960	0.5714		0.5	False		,,,				2504	0.4581					ENST00000429124.1																			0																																																			0							g.chrX:73506653_73506654insA	AK057701		Xq13.2	2013-12-18	2011-04-21	2011-04-21	ENSG00000230590	ENSG00000230590		"""Long non-coding RNAs"", ""-"""	37190	non-coding RNA	RNA, long non-coding	"""five prime to XIST"""		"""non-protein coding RNA 182"", ""mir-374a-545 cluster host gene (non-protein coding)"""	NCRNA00182, MIR374AHG		12045143, 21254562, 21118898	Standard	NR_028379		Approved	LINC00182, FLJ33139	uc010nlq.1		OTTHUMG00000021850		X.37:g.73506664_73506664dupA														0	174	-									RNA	INS	ENST00000429124.1	37																																																																																						0.455	FTX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057255.2	NR_028379		4	3						4	3	---	---	---	---
