#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
SSTR3	6753	broad.mit.edu	37	22	37602836	37602836	+	Missense_Mutation	SNP	C	C	T	rs143937169		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr22:37602836C>T	ENST00000328544.3	-	2	1540	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R336H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	336			R -> C (in dbSNP:rs4988469).		cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	CTCCTGGCTGCGCACACGGCG	0.657																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(1006-1008)cGc>cAc		somatostatin receptor 3		C	HIS/ARG	2,4402		0,2,2200	30.0	36.0	34.0		1007	2.2	0.3	22	dbSNP_134	34	1,8595		0,1,4297	yes	missense	SSTR3	NM_001051.2	29	0,3,6497	TT,TC,CC		0.0116,0.0454,0.0231	possibly-damaging	336/419	37602836	3,12997	2202	4298	6500	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37602836C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.1007G>A	22.37:g.37602836C>T	ENSP00000330138:p.Arg336His					SSTR3_ENST00000402501.1_Missense_Mutation_p.R336H	p.R336H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	1540	-			336		R -> C (in dbSNP:rs4988469).			A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.1007G>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	7.587	0.669886	0.14776	4.54E-4	1.16E-4	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.38240	1.15;1.15	5.42	2.17	0.27698	.	0.965284	0.08602	N	0.921288	T	0.32194	0.0821	L	0.60455	1.87	0.09310	N	1	P	0.50156	0.932	B	0.38616	0.277	T	0.20207	-1.0282	10	0.49607	T	0.09	.	7.6597	0.28396	0.0:0.6117:0.0:0.3883	.	336	P32745	SSR3_HUMAN	H	336	ENSP00000330138:R336H;ENSP00000384904:R336H	ENSP00000330138:R336H	R	-	2	0	SSTR3	35932782	0.999000	0.42202	0.259000	0.24435	0.032000	0.12392	1.559000	0.36320	0.659000	0.30945	0.655000	0.94253	CGC		0.657	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			34	68	0	0	0	1	0	34	68				
DNAH8	1769	broad.mit.edu	37	6	38820472	38820472	+	Silent	SNP	G	G	A	rs61757626		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:38820472G>A	ENST00000359357.3	+	38	5072	c.4818G>A	c.(4816-4818)ccG>ccA	p.P1606P	DNAH8_ENST00000441566.1_Silent_p.P1606P|DNAH8_ENST00000449981.2_Silent_p.P1823P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1606					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTACAGCCGCATCTCCCTG	0.393																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4816-4818)ccG>ccA		dynein, axonemal, heavy chain 8							90.0	87.0	88.0					6																	38820472		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38820472G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4818G>A	6.37:g.38820472G>A						DNAH8_ENST00000449981.2_Silent_p.P1823P|DNAH8_ENST00000441566.1_Silent_p.P1606P	p.P1606P							38	5072	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.4818G>A																																																																																					0.393	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		3	44	0	0	0	1	0	3	44				
NR1I3	9970	broad.mit.edu	37	1	161206260	161206260	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr1:161206260C>G	ENST00000367982.4	-	2	251	c.96G>C	c.(94-96)aaG>aaC	p.K32N	NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000505005.1_Missense_Mutation_p.K32N|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367984.4_Missense_Mutation_p.K32N|NR1I3_ENST00000511944.1_Missense_Mutation_p.K32N|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.K32N|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000502985.1_Missense_Mutation_p.K32N|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000515452.1_Missense_Mutation_p.K32N|NR1I3_ENST00000367983.4_Missense_Mutation_p.K32N|NR1I3_ENST00000367985.3_Missense_Mutation_p.K32N|NR1I3_ENST00000442691.2_Missense_Mutation_p.K32N|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000428574.2_Missense_Mutation_p.K32N|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000367980.2_Missense_Mutation_p.K32N			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	32					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGAAGAAACCCTTGCAGCCCT	0.537																																						ENST00000367983.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15						c.(94-96)aaG>aaC		nuclear receptor subfamily 1, group I, member 3							170.0	155.0	160.0					1																	161206260		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161206260C>G	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.96G>C	1.37:g.161206260C>G	ENSP00000356961:p.Lys32Asn					NR1I3_ENST00000511944.1_Missense_Mutation_p.K32N|NR1I3_ENST00000515452.1_Missense_Mutation_p.K32N|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000428574.2_Missense_Mutation_p.K32N|NR1I3_ENST00000505005.1_Missense_Mutation_p.K32N|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000367982.4_Missense_Mutation_p.K32N|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.K32N|NR1I3_ENST00000515621.1_Intron|NR1I3_ENST00000367980.2_Missense_Mutation_p.K32N|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000502985.1_Missense_Mutation_p.K32N|NR1I3_ENST00000367985.3_Missense_Mutation_p.K32N|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000367984.4_Missense_Mutation_p.K32N|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000442691.2_Missense_Mutation_p.K32N	p.K32N			Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	390	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		32					E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	c.96G>C	CCDS41430.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661588	0.67700	.	.	ENSG00000143257	ENST00000367983;ENST00000367980;ENST00000442691;ENST00000428574;ENST00000505005;ENST00000367982;ENST00000502985;ENST00000511944;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83;-4.83	5.44	-1.21	0.09524	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.145674	0.64402	D	0.000014	D	0.98770	0.9586	H	0.95224	3.64	0.43039	D	0.994621	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.998;0.998;0.998;0.997;1.0;0.998;0.997	D;D;D;D;D;D;D;D;D;D	0.87578	0.998;0.997;0.979;0.997;0.99;0.99;0.95;0.989;0.99;0.95	D	0.98525	1.0625	9	0.87932	D	0	.	9.2748	0.37692	0.0:0.4013:0.0:0.5987	.	32;32;32;32;32;32;32;32;32;32	B7Z8R7;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q6GZ72;Q4U0F0;E9PB75	.;.;.;.;.;NR1I3_HUMAN;.;.;.;.	N	32	ENSP00000356962:K32N;ENSP00000356959:K32N;ENSP00000406493:K32N;ENSP00000412672:K32N;ENSP00000424934:K32N;ENSP00000356961:K32N;ENSP00000421374:K32N;ENSP00000426292:K32N;ENSP00000356963:K32N;ENSP00000356965:K32N;ENSP00000356958:K32N;ENSP00000427034:K32N	ENSP00000356958:K32N	K	-	3	2	NR1I3	159472884	0.607000	0.26958	0.996000	0.52242	0.982000	0.71751	-0.244000	0.08903	-0.068000	0.12953	-0.150000	0.13652	AAG		0.537	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			40	53	0	0	0	1	0	40	53				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>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.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	147	0	0	0	1	0	4	147				
TINAG	27283	broad.mit.edu	37	6	54186159	54186159	+	Nonsense_Mutation	SNP	G	G	T	rs554215844		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:54186159G>T	ENST00000259782.4	+	3	580	c.484G>T	c.(484-486)Gaa>Taa	p.E162*	TINAG_ENST00000370864.3_Nonsense_Mutation_p.E144*|TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Nonsense_Mutation_p.E158*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	162					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGAATTAATTGAACAGGTCAA	0.398																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(484-486)Gaa>Taa		tubulointerstitial nephritis antigen							127.0	117.0	120.0					6																	54186159		2203	4300	6503	SO:0001587	stop_gained	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54186159G>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.484G>T	6.37:g.54186159G>T	ENSP00000259782:p.Glu162*					TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Nonsense_Mutation_p.E158*|TINAG_ENST00000370864.3_Nonsense_Mutation_p.E144*	p.E162*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		3	580	+	Lung NSC(77;0.0518)		162					Q5T467|Q9UJW1|Q9ULZ4	Nonsense_Mutation	SNP	ENST00000259782.4	37	c.484G>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.911640	0.92178	.	.	ENSG00000137251	ENST00000370869;ENST00000259782;ENST00000370864	.	.	.	5.79	4.87	0.63330	.	0.513205	0.19729	N	0.107396	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	11.9948	0.53196	0.0:0.1738:0.8261:0.0	.	.	.	.	X	158;162;144	.	ENSP00000259782:E162X	E	+	1	0	TINAG	54294118	1.000000	0.71417	0.954000	0.39281	0.763000	0.43281	2.240000	0.43088	2.727000	0.93392	0.563000	0.77884	GAA		0.398	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		3	32	1	0	0.00909568	1	0.00938909	3	32				
SPEG	10290	broad.mit.edu	37	2	220329189	220329189	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr2:220329189C>T	ENST00000312358.7	+	9	2872	c.2740C>T	c.(2740-2742)Cgg>Tgg	p.R914W	SPEG_ENST00000396689.2_Missense_Mutation_p.R65W|SPEG_ENST00000396695.2_Missense_Mutation_p.R122W|SPEG_ENST00000396688.1_Missense_Mutation_p.R65W|SPEG_ENST00000396686.1_Missense_Mutation_p.R65W|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.R810W	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	914	Ig-like 3.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCAGACCAGCGGCGCTTTGC	0.652																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(2740-2742)Cgg>Tgg		SPEG complex locus							57.0	65.0	62.0					2																	220329189		2091	4214	6305	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220329189C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2740C>T	2.37:g.220329189C>T	ENSP00000311684:p.Arg914Trp					SPEG_ENST00000396689.2_Missense_Mutation_p.R65W|SPEG_ENST00000396686.1_Missense_Mutation_p.R65W|SPEG_ENST00000396695.2_Missense_Mutation_p.R122W|SPEG_ENST00000396698.1_Missense_Mutation_p.R810W|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396688.1_Missense_Mutation_p.R65W	p.R914W	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	9	2872	+		Renal(207;0.0183)	914			Ig-like 3.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.2740C>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454007	0.84209	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698;ENST00000396695;ENST00000396688;ENST00000396686;ENST00000396689	T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.1	1.78	0.24846	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36002	N	0.002845	D	0.83492	0.5266	M	0.84326	2.69	0.44181	D	0.996991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.992;0.997	D	0.85473	0.1174	10	0.87932	D	0	.	13.5772	0.61881	0.4088:0.5912:0.0:0.0	.	914;122;810	Q15772;Q15772-3;B9ZVR7	SPEG_HUMAN;.;.	W	914;914;810;122;65;65;65	ENSP00000311684:R914W;ENSP00000379926:R810W;ENSP00000379923:R122W;ENSP00000379919:R65W;ENSP00000379917:R65W;ENSP00000379920:R65W	ENSP00000265327:R914W	R	+	1	2	SPEG	220037433	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.053000	0.49901	0.503000	0.28060	0.561000	0.74099	CGG		0.652	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		30	73	0	0	0	1	0	30	73				
AGAP11	119385	broad.mit.edu	37	10	88768854	88768854	+	RNA	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr10:88768854G>A	ENST00000444431.1	+	0	3454				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										TCCGTCACTGGCCAAACGTGC	0.507																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							104.0	113.0	110.0					10																	88768854		2203	4300	6503			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768854G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768854G>A						RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA				Q8TF27	AGA11_HUMAN			0	3454	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.507	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		5	194	0	0	0	1	0	5	194				
AHNAK2	113146	broad.mit.edu	37	14	105414144	105414144	+	Silent	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr14:105414144G>A	ENST00000333244.5	-	7	7763	c.7644C>T	c.(7642-7644)gaC>gaT	p.D2548D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2548						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAGTTTCACGTCCACTTGGC	0.637																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7642-7644)gaC>gaT		AHNAK nucleoprotein 2							107.0	119.0	115.0					14																	105414144		1903	4116	6019	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105414144G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7644C>T	14.37:g.105414144G>A						AHNAK2_ENST00000557457.1_Intron	p.D2548D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7763	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2548					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.7644C>T	CCDS45177.1																																																																																				0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	310	0	0	0	1	0	5	310				
PAQR8	85315	broad.mit.edu	37	6	52268632	52268632	+	Silent	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268632C>T	ENST00000442253.2	+	2	795	c.621C>T	c.(619-621)gtC>gtT	p.V207V	PAQR8_ENST00000360726.3_Silent_p.V207V	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	207					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)	p.V207V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CTTATCCAGTCATGAGGAAGA	0.547																																						ENST00000442253.2																			1	Substitution - coding silent(1)	p.V207V(1)	urinary_tract(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(619-621)gtC>gtT		progestin and adipoQ receptor family member VIII							106.0	100.0	102.0					6																	52268632		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268632C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.621C>T	6.37:g.52268632C>T						PAQR8_ENST00000360726.3_Silent_p.V207V	p.V207V	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	795	+	Lung NSC(77;0.0875)		207					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.621C>T	CCDS4941.1																																																																																				0.547	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		5	83	0	0	0	1	0	5	83				
CIART	148523	broad.mit.edu	37	1	150255959	150255959	+	Silent	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr1:150255959G>A	ENST00000290363.5	+	1	731	c.282G>A	c.(280-282)gcG>gcA	p.A94A	C1orf51_ENST00000369095.1_Silent_p.A94A|C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Silent_p.A6A	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		94					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATCTGGGGCGAAAAGATCAA	0.527																																						ENST00000290363.5																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(280-282)gcG>gcA		chromosome 1 open reading frame 51							98.0	95.0	96.0					1																	150255959		2203	4300	6503	SO:0001819	synonymous_variant	148523							g.chr1:150255959G>A																												ENST00000290363.5:c.282G>A	1.37:g.150255959G>A						C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Silent_p.A6A|C1orf51_ENST00000369095.1_Silent_p.A94A	p.A94A	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	731	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		94					B2RD43|D3DV01|Q8N795|Q96MG6	Silent	SNP	ENST00000290363.5	37	c.282G>A	CCDS949.1																																																																																				0.527	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			4	173	0	0	0	1	0	4	173				
SRGAP1	57522	broad.mit.edu	37	12	64491035	64491035	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:64491035G>A	ENST00000355086.3	+	15	2217	c.1693G>A	c.(1693-1695)Gct>Act	p.A565T	SRGAP1_ENST00000357825.3_Missense_Mutation_p.A542T|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A502T|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	565	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAATCCTTTGGCTGATGACCA	0.353																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1693-1695)Gct>Act		SLIT-ROBO Rho GTPase activating protein 1							69.0	68.0	68.0					12																	64491035		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64491035G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1693G>A	12.37:g.64491035G>A	ENSP00000347198:p.Ala565Thr					RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.A542T|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A502T	p.A565T	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	15	2217	+			565			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1693G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055757	0.36277	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.18657	2.2;2.2;2.2	5.12	4.21	0.49690	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.227080	0.21023	U	0.081468	T	0.15046	0.0363	L	0.35249	1.045	0.34686	D	0.725199	B;B	0.09022	0.002;0.0	B;B	0.15052	0.012;0.007	T	0.15321	-1.0441	9	.	.	.	.	9.4587	0.38772	0.0731:0.0:0.7829:0.144	.	565;502	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	T	565;542;502	ENSP00000347198:A565T;ENSP00000350480:A542T;ENSP00000437948:A502T	.	A	+	1	0	SRGAP1	62777302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.488000	0.45276	1.440000	0.47531	0.650000	0.86243	GCT		0.353	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			6	38	0	0	0	1	0	6	38				
WBP11P1	441818	broad.mit.edu	37	18	30093139	30093139	+	RNA	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr18:30093139C>T	ENST00000567636.1	+	0	1514					NR_003558.1				WW domain binding protein 11 pseudogene 1																		CCACGACCACCGACTTTTACT	0.607																																						ENST00000567636.1																			0																																																			0							g.chr18:30093139C>T	BC059403		18q12.1	2007-05-15				ENSG00000260389			26250	pseudogene	pseudogene							Standard	NR_003558		Approved	HsT3017	uc010dmc.3				18.37:g.30093139C>T								NR_003558.1						0	1514	+									RNA	SNP	ENST00000567636.1	37																																																																																						0.607	WBP11P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435119.1			5	5	0	0	0	1	0	5	5				
CAMSAP1	157922	broad.mit.edu	37	9	138714198	138714198	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr9:138714198G>A	ENST00000389532.4	-	11	2373	c.2309C>T	c.(2308-2310)tCg>tTg	p.S770L	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S781L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S492L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	770					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CAGTTTGGCCGACTCTTCCTC	0.557																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(2308-2310)tCg>tTg		calmodulin regulated spectrin-associated protein 1							106.0	114.0	112.0					9																	138714198		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138714198G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2309C>T	9.37:g.138714198G>A	ENSP00000374183:p.Ser770Leu					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S781L|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S492L	p.S770L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	2373	-			770					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.2309C>T	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823361	0.71143	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.22743	1.97;1.94;1.97	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.51534	0.1680	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.57015	-0.7883	10	0.87932	D	0	-11.6306	18.9649	0.92692	0.0:0.0:1.0:0.0	.	770;781	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	L	770;492;781	ENSP00000374183:S770L;ENSP00000312463:S492L;ENSP00000386420:S781L	ENSP00000312463:S492L	S	-	2	0	CAMSAP1	137854019	1.000000	0.71417	0.994000	0.49952	0.074000	0.17049	9.425000	0.97467	2.553000	0.86117	0.655000	0.94253	TCG		0.557	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		4	153	0	0	0	1	0	4	153				
MUC21	394263	broad.mit.edu	37	6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:30954349A>G	ENST00000376296.3	+	2	638	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	133	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(397-399)Agc>Ggc		mucin 21, cell surface associated							165.0	154.0	158.0					6																	30954349		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954349A>G	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.397A>G	6.37:g.30954349A>G	ENSP00000365473:p.Ser133Gly					MUC21_ENST00000486149.2_5'UTR	p.S133G	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	638	+			133			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.397A>G	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181861	0.38511	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02369	4.32	3.56	0.787	0.18596	.	.	.	.	.	T	0.00666	0.0022	L	0.27053	0.805	0.09310	N	1	B	0.19073	0.033	B	0.22601	0.04	T	0.46789	-0.9166	8	.	.	.	-0.1118	4.2711	0.10787	0.7116:0.0:0.1109:0.1775	.	133	Q5SSG8	MUC21_HUMAN	G	133	ENSP00000365473:S133G	.	S	+	1	0	MUC21	31062328	0.000000	0.05858	0.004000	0.12327	0.164000	0.22412	0.014000	0.13333	0.527000	0.28560	0.397000	0.26171	AGC		0.612	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		5	338	0	0	0	1	0	5	338				
SGOL1	151648	broad.mit.edu	37	3	20215804	20215804	+	Silent	SNP	T	T	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:20215804T>G	ENST00000263753.4	-	6	1358	c.1219A>C	c.(1219-1221)Aga>Cga	p.R407R	SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000412868.1_Silent_p.R407R|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000412997.1_Silent_p.R407R|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000421451.1_Silent_p.R407R|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	407					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTCAGTGCTCTTTTAGCTAGA	0.413																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(1219-1221)Aga>Cga		shugoshin-like 1 (S. pombe)							118.0	123.0	122.0					3																	20215804		2203	4300	6503	SO:0001819	synonymous_variant	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20215804T>G	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1219A>C	3.37:g.20215804T>G						SGOL1_ENST00000419233.2_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000421451.1_Silent_p.R407R|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000412868.1_Silent_p.R407R|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000263753.4_Silent_p.R407R|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA	p.R407R	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			6	1570	-			407					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Silent	SNP	ENST00000263753.4	37	c.1219A>C	CCDS33716.1																																																																																				0.413	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		7	94	0	0	0	1	0	7	94				
IGSF9B	22997	broad.mit.edu	37	11	133814172	133814172	+	Silent	SNP	G	G	A	rs531377479		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:133814172G>A	ENST00000321016.8	-	3	582	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	IGSF9B_ENST00000533871.2_Silent_p.L118L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	118	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGCTGGTCCAGCATGAGCACT	0.577																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(352-354)Ctg>Ttg		immunoglobulin superfamily, member 9B							102.0	111.0	108.0					11																	133814172		2099	4231	6330	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133814172G>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.352C>T	11.37:g.133814172G>A						IGSF9B_ENST00000533871.2_Silent_p.L118L	p.L118L			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	3	582	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	118			Ig-like 1.		G5EA26	Silent	SNP	ENST00000321016.8	37	c.352C>T																																																																																					0.577	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		3	33	0	0	0	1	0	3	33				
EIF5A2	56648	broad.mit.edu	37	3	170624851	170624851	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:170624851C>T	ENST00000295822.2	-	3	382	c.197G>A	c.(196-198)gGc>gAc	p.G66D	EIF5A2_ENST00000474096.1_Missense_Mutation_p.G66D|EIF5A2_ENST00000487522.1_Missense_Mutation_p.G66D|EIF5A2_ENST00000460117.1_Intron	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	66					cellular protein metabolic process (GO:0044267)|mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|polyamine homeostasis (GO:0010509)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|translational frameshifting (GO:0006452)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			ATATTTTTTGCCCGTGAAAAT	0.343																																						ENST00000295822.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(196-198)gGc>gAc		eukaryotic translation initiation factor 5A2							84.0	84.0	84.0					3																	170624851		2203	4299	6502	SO:0001583	missense	56648				mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity	g.chr3:170624851C>T	AF293386	CCDS3214.1	3q26.2	2008-05-15			ENSG00000163577	ENSG00000163577			3301	protein-coding gene	gene with protein product		605782					Standard	NM_020390		Approved		uc003fhd.3	Q9GZV4	OTTHUMG00000158958	ENST00000295822.2:c.197G>A	3.37:g.170624851C>T	ENSP00000295822:p.Gly66Asp					EIF5A2_ENST00000474096.1_Missense_Mutation_p.G66D|EIF5A2_ENST00000487522.1_Missense_Mutation_p.G66D|EIF5A2_ENST00000460117.1_Intron	p.G66D	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)		3	382	-	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		66					B2R4V5	Missense_Mutation	SNP	ENST00000295822.2	37	c.197G>A	CCDS3214.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733865	0.69189	.	.	ENSG00000163577	ENST00000295822;ENST00000487522;ENST00000474096;ENST00000474417	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.58	5.58	0.84498	Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.63803	0.2542	M	0.91717	3.235	0.58432	D	0.999999	D	0.54047	0.964	B	0.43916	0.436	T	0.75391	-0.3334	10	0.72032	D	0.01	-21.2456	19.5675	0.95401	0.0:1.0:0.0:0.0	.	66	Q9GZV4	IF5A2_HUMAN	D	66;66;66;47	ENSP00000295822:G66D;ENSP00000418305:G66D;ENSP00000418370:G66D;ENSP00000417133:G47D	ENSP00000295822:G66D	G	-	2	0	EIF5A2	172107545	0.788000	0.28762	1.000000	0.80357	0.988000	0.76386	2.793000	0.47845	2.640000	0.89533	0.561000	0.74099	GGC		0.343	EIF5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352681.1			3	29	0	0	0	1	0	3	29				
PTX4	390667	broad.mit.edu	37	16	1537738	1537738	+	Silent	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr16:1537738C>T	ENST00000447419.2	-	2	400	c.375G>A	c.(373-375)ttG>ttA	p.L125L	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.L120L			Q96A99	PTX4_HUMAN	pentraxin 4, long	125						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGTGAGGTCCAAGGCCCGCA	0.701																																						ENST00000447419.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(373-375)ttG>ttA		pentraxin 4, long							24.0	30.0	28.0					16																	1537738		2195	4291	6486	SO:0001819	synonymous_variant	390667					extracellular region	metal ion binding	g.chr16:1537738C>T		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.375G>A	16.37:g.1537738C>T						PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.L120L	p.L125L			Q96A99	PTX4_HUMAN			2	400	-			125						Silent	SNP	ENST00000447419.2	37	c.375G>A																																																																																					0.701	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658		33	49	0	0	0	1	0	33	49				
TEKT3	64518	broad.mit.edu	37	17	15207265	15207265	+	Silent	SNP	G	G	A	rs1047882		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:15207265G>A	ENST00000395930.1	-	9	1647	c.1461C>T	c.(1459-1461)gtC>gtT	p.V487V	TEKT3_ENST00000338696.2_Silent_p.V487V|TEKT3_ENST00000462175.1_5'UTR	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	487					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		AGCAGAAGCCGACCAGCCGGA	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19614	0.0		0.0	False		,,,				2504	0.0					ENST00000395930.1																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23						c.(1459-1461)gtC>gtT		tektin 3							98.0	87.0	91.0					17																	15207265		2203	4300	6503	SO:0001819	synonymous_variant	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15207265G>A	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1461C>T	17.37:g.15207265G>A						TEKT3_ENST00000462175.1_5'UTR|TEKT3_ENST00000338696.2_Silent_p.V487V	p.V487V	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	9	1647	-			487					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Silent	SNP	ENST00000395930.1	37	c.1461C>T	CCDS11169.1																																																																																				0.527	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		28	46	0	0	0	1	0	28	46				
SLC10A2	6555	broad.mit.edu	37	13	103701637	103701637	+	Splice_Site	SNP	A	A	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr13:103701637A>G	ENST00000245312.3	-	5	1516		c.e5+1			NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	ATGATTCCTTACATCCTAAGA	0.423																																						ENST00000245312.3																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.e5+1		solute carrier family 10 (sodium/bile acid cotransporter), member 2							150.0	134.0	139.0					13																	103701637		2203	4300	6503	SO:0001630	splice_region_variant	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103701637A>G	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.919+1T>C	13.37:g.103701637A>G								NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN			5	1516	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)							A1L4F4|Q13839	Splice_Site	SNP	ENST00000245312.3	37		CCDS9506.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.438445	0.25900	.	.	ENSG00000125255	ENST00000245312	.	.	.	5.42	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.355	0.49611	0.9288:0.0:0.0712:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC10A2	102499638	1.000000	0.71417	0.447000	0.26932	0.051000	0.14879	8.839000	0.92120	0.990000	0.38787	0.533000	0.62120	.		0.423	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1		Intron	4	96	0	0	0	1	0	4	96				
NUAK1	9891	broad.mit.edu	37	12	106500261	106500261	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:106500261G>C	ENST00000261402.2	-	2	1662	c.283C>G	c.(283-285)Caa>Gaa	p.Q95E	RP11-114F10.3_ENST00000548901.1_RNA	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						ACCATGTCTTGTTCATCCTTA	0.338																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(283-285)Caa>Gaa		NUAK family, SNF1-like kinase, 1							190.0	158.0	169.0					12																	106500261		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106500261G>C	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.283C>G	12.37:g.106500261G>C	ENSP00000261402:p.Gln95Glu						p.Q95E	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			2	1662	-			95			Protein kinase.		A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.283C>G	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961134	0.53400	.	.	ENSG00000074590	ENST00000261402;ENST00000359413	T	0.64618	-0.11	6.07	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115266	0.39146	N	0.001445	T	0.39118	0.1066	N	0.01515	-0.825	0.48975	D	0.999739	B	0.25521	0.128	B	0.38056	0.264	T	0.39231	-0.9624	10	0.07482	T	0.82	.	15.3608	0.74472	0.0665:0.0:0.9335:0.0	.	95	O60285	NUAK1_HUMAN	E	95	ENSP00000261402:Q95E	ENSP00000261402:Q95E	Q	-	1	0	NUAK1	105024391	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.869000	0.99810	1.591000	0.50007	-0.142000	0.14014	CAA		0.338	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		3	42	0	0	0	1	0	3	42				
FKBP10	60681	broad.mit.edu	37	17	39974421	39974421	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:39974421G>T	ENST00000321562.4	+	3	576	c.472G>T	c.(472-474)Gtg>Ttg	p.V158L	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	158					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CACCGTGCAGGTGAGCACATT	0.622																																						ENST00000321562.4																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(472-474)Gtg>Ttg		FK506 binding protein 10, 65 kDa							65.0	60.0	62.0					17																	39974421		2203	4300	6503	SO:0001583	missense	60681				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr17:39974421G>T	AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.472G>T	17.37:g.39974421G>T	ENSP00000317232:p.Val158Leu						p.V158L	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.148)	3	576	+		Breast(137;0.00122)	158					Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	ENST00000321562.4	37	c.472G>T	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.897990	0.52227	.	.	ENSG00000141756	ENST00000269598;ENST00000321562;ENST00000414352	T	0.55052	0.54	5.53	4.54	0.55810	.	0.412895	0.22837	N	0.055037	T	0.39886	0.1095	L	0.60455	1.87	0.80722	D	1	B	0.20164	0.042	B	0.22601	0.04	T	0.21484	-1.0244	10	0.05833	T	0.94	-22.4168	4.3584	0.11190	0.1891:0.0:0.6145:0.1964	.	158	Q96AY3	FKB10_HUMAN	L	158	ENSP00000317232:V158L	ENSP00000269598:V158L	V	+	1	0	FKBP10	37227947	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	3.778000	0.55371	1.297000	0.44761	0.561000	0.74099	GTG		0.622	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939		27	28	1	0	2.44723e-14	1	2.56759e-14	27	28				
FDXR	2232	broad.mit.edu	37	17	72858969	72858969	+	Silent	SNP	A	A	C			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:72858969A>C	ENST00000293195.5	-	12	1524	c.1446T>G	c.(1444-1446)ccT>ccG	p.P482P	GRIN2C_ENST00000293190.5_5'Flank|FDXR_ENST00000413947.2_Silent_p.P513P|FDXR_ENST00000581530.1_Silent_p.P488P|FDXR_ENST00000582944.1_Silent_p.P474P|GRIN2C_ENST00000578159.1_5'Flank|FDXR_ENST00000420580.2_Silent_p.P442P|FDXR_ENST00000583917.1_Silent_p.P454P|FDXR_ENST00000442102.2_Silent_p.P525P|FDXR_ENST00000455107.2_3'UTR|GRIN2C_ENST00000347612.4_5'Flank|FDXR_ENST00000544854.1_Silent_p.P430P	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	482					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	GCATCTCCTGAGGATCCACCA	0.692																																						ENST00000442102.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(1573-1575)ccT>ccG		ferredoxin reductase							42.0	50.0	47.0					17																	72858969		2203	4299	6502	SO:0001819	synonymous_variant	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72858969A>C	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1446T>G	17.37:g.72858969A>C						FDXR_ENST00000581530.1_Silent_p.P488P|FDXR_ENST00000420580.2_Silent_p.P442P|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000583917.1_Silent_p.P454P|FDXR_ENST00000293195.5_Silent_p.P482P|FDXR_ENST00000544854.1_Silent_p.P430P|FDXR_ENST00000413947.2_Silent_p.P513P|FDXR_ENST00000582944.1_Silent_p.P474P	p.P525P	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN			12	1661	-	all_lung(278;0.172)|Lung NSC(278;0.207)		482					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Silent	SNP	ENST00000293195.5	37	c.1575T>G	CCDS58593.1																																																																																				0.692	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		5	68	0	0	0	1	0	5	68				
CDC7	8317	broad.mit.edu	37	1	91967356	91967356	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr1:91967356T>A	ENST00000428239.1	+	2	342	c.83T>A	c.(82-84)tTa>tAa	p.L28*	CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*|CDC7_ENST00000497611.1_3'UTR	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	28					cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAAC	0.403																																						ENST00000428239.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23						c.(82-84)tTa>tAa		cell division cycle 7							89.0	96.0	94.0					1																	91967356		2203	4300	6503	SO:0001587	stop_gained	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91967356T>A	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	ENST00000428239.1:c.83T>A	1.37:g.91967356T>A	ENSP00000393139:p.Leu28*					CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*	p.L28*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	2	342	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	28					D3DT31|O00558|Q5T5U5	Nonsense_Mutation	SNP	ENST00000428239.1	37	c.83T>A	CCDS734.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.919905	0.73098	.	.	ENSG00000097046	ENST00000430031;ENST00000234626;ENST00000428239;ENST00000426137	.	.	.	5.22	2.9	0.33743	.	1.340040	0.04577	N	0.394259	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7639	5.0268	0.14389	0.0:0.1687:0.1674:0.6639	.	.	.	.	X	28	.	ENSP00000234626:L28X	L	+	2	0	CDC7	91739944	0.004000	0.15560	0.151000	0.22473	0.174000	0.22865	0.295000	0.19065	0.391000	0.25143	-0.346000	0.07831	TTA		0.403	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		4	112	0	0	0	1	0	4	112				
CACNA1F	778	broad.mit.edu	37	X	49072961	49072961	+	Silent	SNP	T	T	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chrX:49072961T>G	ENST00000376265.2	-	27	3211	c.3150A>C	c.(3148-3150)ggA>ggC	p.G1050G	CACNA1F_ENST00000376251.1_Silent_p.G985G|CACNA1F_ENST00000323022.5_Silent_p.G1039G	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1050					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGACACGTCTCCATCTGGGT	0.567																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(3148-3150)ggA>ggC		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						55.0	44.0	48.0					X																	49072961		2203	4300	6503	SO:0001819	synonymous_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49072961T>G	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3150A>C	X.37:g.49072961T>G						CACNA1F_ENST00000376251.1_Silent_p.G985G|CACNA1F_ENST00000323022.5_Silent_p.G1039G	p.G1050G	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			27	3211	-			1050					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	ENST00000376265.2	37	c.3150A>C	CCDS35253.1																																																																																				0.567	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		13	1	0	0	0	1	0	13	1				
NUDT10	170685	broad.mit.edu	37	X	51076024	51076024	+	Silent	SNP	G	G	A	rs143435240		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	234					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657																																					NSCLC(90;1817 2035 37909 38249)	ENST00000376006.3																			8	Substitution - coding silent(8)	p.E69E(8)	endometrium(5)|cervix(1)|prostate(1)|lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(205-207)gaG>gaA		nudix (nucleoside diphosphate linked moiety X)-type motif 10							52.0	62.0	59.0					X																	51076024		2203	4300	6503	SO:0001819	synonymous_variant	170685					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51076024G>A	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.207G>A	X.37:g.51076024G>A						NUDT10_ENST00000356450.2_Silent_p.E69E	p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN			2	427	+	Ovarian(276;0.236)		69			Nudix hydrolase.		Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000376006.3	37	c.207G>A	CCDS35278.1																																																																																				0.657	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056578.1	NM_153183		3	29	0	0	0	1	0	3	29				
TNFRSF6B	8771	broad.mit.edu	37	20	62328731	62328731	+	Missense_Mutation	SNP	T	T	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr20:62328731T>A	ENST00000369996.1	+	2	575	c.475T>A	c.(475-477)Tca>Aca	p.S159T	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR|ARFRP1_ENST00000485858.1_5'Flank	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	159					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			AGGCACCTTCTCAGCCAGCAG	0.662																																						ENST00000369996.1																			0				central_nervous_system(1)|lung(2)|skin(1)	4						c.(475-477)Tca>Aca		tumor necrosis factor receptor superfamily, member 6b, decoy							33.0	29.0	31.0					20																	62328731		2181	4280	6461	SO:0001583	missense	8771				anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity	g.chr20:62328731T>A	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.475T>A	20.37:g.62328731T>A	ENSP00000359013:p.Ser159Thr					RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	p.S159T	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)		2	575	+	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		159						Missense_Mutation	SNP	ENST00000369996.1	37	c.475T>A	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.778445	0.90195	.	.	ENSG00000243509	ENST00000370006;ENST00000369996	T	0.65549	-0.16	4.44	4.44	0.53790	TNFR/CD27/30/40/95 cysteine-rich region (2);	.	.	.	.	T	0.78648	0.4316	M	0.90542	3.125	0.25176	N	0.99025	P	0.39551	0.678	P	0.52031	0.688	T	0.72261	-0.4345	9	0.87932	D	0	-26.0544	11.9162	0.52767	0.0:0.0:0.0:1.0	.	159	O95407	TNF6B_HUMAN	T	159	ENSP00000359013:S159T	ENSP00000359010:S159T	S	+	1	0	TNFRSF6B	61799175	0.006000	0.16342	0.948000	0.38648	0.721000	0.41392	0.886000	0.28241	1.640000	0.50565	0.459000	0.35465	TCA		0.662	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			11	22	0	0	0	1	0	11	22				
KLHL24	54800	broad.mit.edu	37	3	183368748	183368748	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:183368748G>A	ENST00000454652.2	+	4	990	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	KLHL24_ENST00000242810.6_Missense_Mutation_p.E202K|KLHL24_ENST00000476808.1_Missense_Mutation_p.E202K	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	202	BACK.					cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ATCCCAGCACGAAGAATTTCT	0.378																																						ENST00000454652.1																			0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(604-606)Gaa>Aaa		kelch-like family member 24							114.0	118.0	117.0					3																	183368748		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183368748G>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.604G>A	3.37:g.183368748G>A	ENSP00000395012:p.Glu202Lys					KLHL24_ENST00000242810.6_Missense_Mutation_p.E202K|KLHL24_ENST00000476808.1_Missense_Mutation_p.E202K	p.E202K			Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		4	990	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		202			BACK.		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.604G>A	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.209603	0.79240	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.71222	-0.55;-0.55;-0.55	5.3	5.3	0.74995	BTB/Kelch-associated (2);	0.045227	0.85682	D	0.000000	D	0.84115	0.5401	M	0.80508	2.5	0.80722	D	1	D;D	0.69078	0.997;0.991	P;P	0.62560	0.776;0.904	D	0.86473	0.1786	10	0.87932	D	0	.	18.958	0.92668	0.0:0.0:1.0:0.0	.	202;202	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	K	202	ENSP00000242810:E202K;ENSP00000395012:E202K;ENSP00000419010:E202K	ENSP00000242810:E202K	E	+	1	0	KLHL24	184851442	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.472000	0.83506	0.460000	0.39030	GAA		0.378	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		4	86	0	0	0	1	0	4	86				
PAQR8	85315	broad.mit.edu	37	6	52268717	52268717	+	Missense_Mutation	SNP	C	C	T	rs200866188		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268717C>T	ENST00000442253.2	+	2	880	c.706C>T	c.(706-708)Cac>Tac	p.H236Y	PAQR8_ENST00000360726.3_Missense_Mutation_p.H236Y	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	236					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GGCGCTCTGTCACCTGGCTGG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		21617	0.0		0.001	False		,,,				2504	0.0					ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(706-708)Cac>Tac		progestin and adipoQ receptor family member VIII		C	TYR/HIS	0,4406		0,0,2203	89.0	85.0	86.0		706	5.5	1.0	6		86	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PAQR8	NM_133367.4	83	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	236/355	52268717	2,13004	2203	4300	6503	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268717C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.706C>T	6.37:g.52268717C>T	ENSP00000406197:p.His236Tyr					PAQR8_ENST00000360726.3_Missense_Mutation_p.H236Y	p.H236Y	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	880	+	Lung NSC(77;0.0875)		236					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.706C>T	CCDS4941.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	4.168	0.029677	0.08101	0.0	2.33E-4	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.30182	1.54;1.54	5.54	5.54	0.83059	.	0.209909	0.42682	D	0.000662	T	0.15089	0.0364	L	0.36672	1.1	0.45295	D	0.99829	B	0.14438	0.01	B	0.18871	0.023	T	0.04664	-1.0935	9	.	.	.	-12.9109	18.4725	0.90779	0.0:1.0:0.0:0.0	.	236	Q8TEZ7	MPRB_HUMAN	Y	236	ENSP00000406197:H236Y;ENSP00000353953:H236Y	.	H	+	1	0	PAQR8	52376676	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.646000	0.61411	2.610000	0.88304	0.655000	0.94253	CAC		0.567	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		5	63	0	0	0	1	0	5	63				
OR2AE1	81392	broad.mit.edu	37	7	99474462	99474462	+	Silent	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr7:99474462C>T	ENST00000316368.2	-	1	218	c.195G>A	c.(193-195)caG>caA	p.Q65Q		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGAGGGAGAGCTGGCTGAGCA	0.488																																						ENST00000316368.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11						c.(193-195)caG>caA		olfactory receptor, family 2, subfamily AE, member 1							102.0	89.0	94.0					7																	99474462		2203	4300	6503	SO:0001819	synonymous_variant	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474462C>T	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.195G>A	7.37:g.99474462C>T							p.Q65Q	NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN			1	218	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		65					B2RPD2	Silent	SNP	ENST00000316368.2	37	c.195G>A	CCDS34696.1																																																																																				0.488	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			26	37	0	0	0	1	0	26	37				
TSGA13	114960	broad.mit.edu	37	7	130357704	130357704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr7:130357704G>A	ENST00000456951.1	-	7	1251	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	TSGA13_ENST00000356588.3_Nonsense_Mutation_p.Q134*			Q96PP4	TSG13_HUMAN	testis specific, 13	134										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GGTTTGTGCTGATGATGACTT	0.463																																						ENST00000456951.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(400-402)Cag>Tag		testis specific, 13							107.0	100.0	102.0					7																	130357704		2203	4300	6503	SO:0001587	stop_gained	114960							g.chr7:130357704G>A	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.400C>T	7.37:g.130357704G>A	ENSP00000406047:p.Gln134*					TSGA13_ENST00000356588.3_Nonsense_Mutation_p.Q134*	p.Q134*			Q96PP4	TSG13_HUMAN			7	1251	-	Melanoma(18;0.0435)		134					B3KSC9	Nonsense_Mutation	SNP	ENST00000456951.1	37	c.400C>T	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	G	36	5.857781	0.97036	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	5.12	4.23	0.50019	.	1.498440	0.04127	N	0.317232	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	0.0662	11.2132	0.48810	0.0:0.0:0.8161:0.1839	.	.	.	.	X	134	.	ENSP00000348996:Q134X	Q	-	1	0	TSGA13	130008244	0.027000	0.19231	0.002000	0.10522	0.026000	0.11368	1.864000	0.39469	1.247000	0.43917	0.563000	0.77884	CAG		0.463	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		4	37	0	0	0	1	0	4	37				
NXN	64359	broad.mit.edu	37	17	722762	722762	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:722762T>C	ENST00000336868.3	-	5	828	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.Y138C|NXN_ENST00000538650.1_5'UTR	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	246	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cardiovascular system development (GO:0072358)|cell differentiation (GO:0030154)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein-disulfide reductase activity (GO:0047134)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTCACTGAAGTACTGTTTGAA	0.632																																						ENST00000336868.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13						c.(736-738)tAc>tGc		nucleoredoxin							79.0	74.0	75.0					17																	722762		2203	4300	6503	SO:0001583	missense	64359				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity	g.chr17:722762T>C		CCDS10998.1, CCDS56013.1	17p13	2007-08-10			ENSG00000167693	ENSG00000167693			18008	protein-coding gene	gene with protein product		612895					Standard	NM_022463		Approved	FLJ12614, NRX	uc002fsa.3	Q6DKJ4	OTTHUMG00000090307	ENST00000336868.3:c.737A>G	17.37:g.722762T>C	ENSP00000337443:p.Tyr246Cys					NXN_ENST00000538650.1_5'UTR|NXN_ENST00000537628.2_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.Y138C	p.Y246C	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)	5	828	-			246			Thioredoxin.		B4DXQ0|D3DTH2|Q3SWW6|Q6P3U6|Q7L4C6|Q9H9Q1	Missense_Mutation	SNP	ENST00000336868.3	37	c.737A>G	CCDS10998.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.997485	0.93227	.	.	ENSG00000167693	ENST00000336868;ENST00000537628	D	0.82255	-1.59	6.0	6.0	0.97389	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	D	0.94235	0.8149	H	0.96691	3.865	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.964;0.998;0.998	D	0.95769	0.8807	10	0.66056	D	0.02	-19.3587	15.6874	0.77421	0.0:0.0:0.0:1.0	.	138;133;246	B4DXQ0;Q6DKJ4-2;Q6DKJ4	.;.;NXN_HUMAN	C	246;138	ENSP00000337443:Y246C	ENSP00000337443:Y246C	Y	-	2	0	NXN	669512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.888000	0.87302	2.298000	0.77334	0.496000	0.49642	TAC		0.632	NXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206669.1			29	66	0	0	0	1	0	29	66				
ZNF714	148206	broad.mit.edu	37	19	21299769	21299769	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr19:21299769A>T	ENST00000596143.1	+	5	624	c.299A>T	c.(298-300)aAa>aTa	p.K100I	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTGTACAAAAAAGGTTATGAA	0.318																																						ENST00000596143.1																			0				endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						c.(298-300)aAa>aTa		zinc finger protein 714							44.0	44.0	44.0					19																	21299769		2187	4293	6480	SO:0001583	missense	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21299769A>T	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		ENST00000596143.1:c.299A>T	19.37:g.21299769A>T	ENSP00000472368:p.Lys100Ile					ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	p.K100I	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN			5	624	+			100					Q49AI1|Q86W65|Q8ND40	Missense_Mutation	SNP	ENST00000596143.1	37	c.299A>T	CCDS54239.1	.	.	.	.	.	.	.	.	.	.	.	3.302	-0.142634	0.06669	.	.	ENSG00000160352	ENST00000343332;ENST00000291770	.	.	.	0.601	-0.979	0.10276	.	.	.	.	.	T	0.18425	0.0442	N	0.19112	0.55	0.09310	N	1	B;B	0.23442	0.085;0.001	B;B	0.18561	0.022;0.0	T	0.19976	-1.0289	8	0.56958	D	0.05	.	1.7709	0.03011	0.3789:0.3106:0.0:0.3105	.	100;100	Q96N38-2;A6NEM4	.;.	I	100	.	ENSP00000291770:K100I	K	+	2	0	ZNF714	21091609	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.192000	0.09587	-0.425000	0.07371	-0.714000	0.03626	AAA		0.318	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	NM_182515		13	27	0	0	0	1	0	13	27				
RANBP17	64901	broad.mit.edu	37	5	170640699	170640699	+	Missense_Mutation	SNP	A	A	G	rs148262159		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr5:170640699A>G	ENST00000523189.1	+	21	2460	c.2296A>G	c.(2296-2298)Aca>Gca	p.T766A	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	766					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCAACATGTACAACTCCCAT	0.418			T	TRD@	ALL																																	ENST00000523189.1				Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50						c.(2296-2298)Aca>Gca		RAN binding protein 17		A	ALA/THR	0,4406		0,0,2203	197.0	183.0	188.0		2296	6.0	0.7	5	dbSNP_134	188	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RANBP17	NM_022897.3	58	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	766/1089	170640699	1,13005	2203	4300	6503	SO:0001583	missense	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170640699A>G	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.2296A>G	5.37:g.170640699A>G	ENSP00000427975:p.Thr766Ala					RANBP17_ENST00000521759.1_3'UTR	p.T766A	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		21	2460	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	766					Q8IU74	Missense_Mutation	SNP	ENST00000523189.1	37	c.2296A>G	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.040224	0.55003	0.0	1.16E-4	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.66815	-0.23	5.97	5.97	0.96955	Armadillo-type fold (1);	0.000000	0.64402	D	0.000005	T	0.70193	0.3196	M	0.83692	2.655	0.47698	D	0.999495	B;B	0.14012	0.009;0.009	B;B	0.15052	0.012;0.012	T	0.66638	-0.5873	10	0.32370	T	0.25	-13.9153	16.1223	0.81369	1.0:0.0:0.0:0.0	.	766;766	Q546R4;Q9H2T7	.;RBP17_HUMAN	A	766;196	ENSP00000427975:T766A	ENSP00000427975:T766A	T	+	1	0	RANBP17	170573304	1.000000	0.71417	0.701000	0.30321	0.624000	0.37722	4.719000	0.61937	2.288000	0.76882	0.533000	0.62120	ACA		0.418	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897		47	63	0	0	0	1	0	47	63				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	99	0	0	0	1	0	4	99				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			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.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	147	0	0	0	1	0	4	147				
VWA5A	4013	broad.mit.edu	37	11	124016065	124016065	+	Missense_Mutation	SNP	A	A	G	rs200614108		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:124016065A>G	ENST00000456829.2	+	18	2527	c.2276A>G	c.(2275-2277)cAt>cGt	p.H759R	VWA5A_ENST00000360334.4_3'UTR|VWA5A_ENST00000392748.1_Missense_Mutation_p.H759R	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	759			H -> R. {ECO:0000269|PubMed:9417908}.					p.H759R(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATGCGTGCCCATGCAGGTAGG	0.587																																						ENST00000456829.2																			1	Substitution - Missense(1)	p.H759R(1)	endometrium(1)	autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(2275-2277)cAt>cGt		von Willebrand factor A domain containing 5A		A	ARG/HIS,ARG/HIS	0,4402		0,0,2201	90.0	86.0	87.0		2276,2276	1.0	0.0	11		87	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	VWA5A	NM_001130142.1,NM_014622.4	29,29	0,1,6499	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	759/787,759/787	124016065	1,12999	2201	4299	6500	SO:0001583	missense	4013							g.chr11:124016065A>G	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.2276A>G	11.37:g.124016065A>G	ENSP00000407726:p.His759Arg					VWA5A_ENST00000392748.1_Missense_Mutation_p.H759R|VWA5A_ENST00000360334.4_3'UTR	p.H759R	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			18	2527	+			759		H -> R.			Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.2276A>G	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	A	8.282	0.815718	0.16607	0.0	1.16E-4	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.27890	1.64;1.64	4.87	1.03	0.20045	.	0.648730	0.16352	N	0.218142	T	0.19805	0.0476	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24548	-1.0157	10	0.19147	T	0.46	-4.0969	4.4868	0.11794	0.6864:0.0:0.1688:0.1448	.	759	O00534	VMA5A_HUMAN	R	759	ENSP00000407726:H759R;ENSP00000376504:H759R	ENSP00000376504:H759R	H	+	2	0	VWA5A	123521275	0.000000	0.05858	0.007000	0.13788	0.048000	0.14542	0.794000	0.26958	0.065000	0.16485	-0.256000	0.11100	CAT		0.587	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		33	33	0	0	0	1	0	33	33				
HERC2	8924	broad.mit.edu	37	15	28359926	28359926	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:28359926C>T	ENST00000261609.7	-	90	13853	c.13745G>A	c.(13744-13746)gGa>gAa	p.G4582E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTACATGAGTCCAGGAATAAA	0.502																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(13744-13746)gGa>gAa		HECT and RLD domain containing E3 ubiquitin protein ligase 2							102.0	92.0	96.0					15																	28359926		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28359926C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.13745G>A	15.37:g.28359926C>T	ENSP00000261609:p.Gly4582Glu						p.G4582E	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	90	13853	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4582			HECT.			Missense_Mutation	SNP	ENST00000261609.7	37	c.13745G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240706	0.79912	.	.	ENSG00000128731	ENST00000261609	T	0.57595	0.39	5.17	5.17	0.71159	HECT (4);	0.057343	0.64402	D	0.000001	T	0.69106	0.3074	M	0.77486	2.375	0.80722	D	1	D;P	0.56035	0.974;0.741	P;P	0.54590	0.756;0.589	T	0.74438	-0.3665	10	0.72032	D	0.01	.	18.6672	0.91495	0.0:1.0:0.0:0.0	.	4582;271	O95714;Q8ND39	HERC2_HUMAN;.	E	4582	ENSP00000261609:G4582E	ENSP00000261609:G4582E	G	-	2	0	HERC2	26033521	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.811000	0.86092	2.407000	0.81776	0.655000	0.94253	GGA		0.502	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		13	61	0	0	0	1	0	13	61				
CRLF1	9244	broad.mit.edu	37	19	18704899	18704899	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr19:18704899A>G	ENST00000392386.3	-	8	1424	c.1231T>C	c.(1231-1233)Tcg>Ccg	p.S411P	CRLF1_ENST00000594325.1_Intron	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	411					negative regulation of motor neuron apoptotic process (GO:2000672)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of cell proliferation (GO:0008284)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|ureteric bud development (GO:0001657)	CRLF-CLCF1 complex (GO:0097058)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CGTCTGCCCGAGGGCAGGATC	0.662																																						ENST00000392386.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.(1231-1233)Tcg>Ccg		cytokine receptor-like factor 1							13.0	11.0	12.0					19																	18704899		2172	4269	6441	SO:0001583	missense	9244				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	g.chr19:18704899A>G	AF059293	CCDS32962.1	19p12	2013-02-11				ENSG00000006016		"""Fibronectin type III domain containing"""	2364	protein-coding gene	gene with protein product	"""cold-induced sweating syndrome"""	604237				9686600	Standard	NM_004750		Approved	CLF-1, CLF, CISS, CISS1	uc010ebt.2	O75462		ENST00000392386.3:c.1231T>C	19.37:g.18704899A>G	ENSP00000376188:p.Ser411Pro					CRLF1_ENST00000594325.1_Intron	p.S411P	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN			8	1424	-			411					Q9UHH5	Missense_Mutation	SNP	ENST00000392386.3	37	c.1231T>C	CCDS32962.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972992	0.34848	.	.	ENSG00000006016	ENST00000392386	D	0.83673	-1.75	4.1	1.9	0.25705	.	0.879646	0.09439	N	0.802041	T	0.68146	0.2969	N	0.19112	0.55	0.28970	N	0.889318	B	0.02656	0.0	B	0.01281	0.0	T	0.58358	-0.7650	10	0.44086	T	0.13	-17.9175	3.443	0.07470	0.6885:0.0:0.1132:0.1983	.	411	O75462	CRLF1_HUMAN	P	411	ENSP00000376188:S411P	ENSP00000376188:S411P	S	-	1	0	CRLF1	18565899	0.999000	0.42202	1.000000	0.80357	0.967000	0.64934	0.371000	0.20450	0.606000	0.29965	0.260000	0.18958	TCG		0.662	CRLF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465129.1			4	7	0	0	0	1	0	4	7				
RIMBP2	23504	broad.mit.edu	37	12	130919341	130919341	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:130919341C>A	ENST00000261655.4	-	11	2303	c.2140G>T	c.(2140-2142)Gac>Tac	p.D714Y	RIMBP2_ENST00000535703.1_Missense_Mutation_p.D622Y|RIMBP2_ENST00000536002.1_Missense_Mutation_p.D622Y	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	714					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTCTTGAAGTCTGGAGAGTCA	0.597																																						ENST00000261655.4																			0				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96						c.(2140-2142)Gac>Tac		RIMS binding protein 2							74.0	81.0	78.0					12																	130919341		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130919341C>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2140G>T	12.37:g.130919341C>A	ENSP00000261655:p.Asp714Tyr					RIMBP2_ENST00000536002.1_Missense_Mutation_p.D622Y|RIMBP2_ENST00000535703.1_Missense_Mutation_p.D622Y	p.D714Y	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	11	2303	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	714					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2140G>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	7.169	0.587189	0.13812	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.20069	2.1;2.91;2.91	5.0	4.11	0.48088	.	0.504399	0.19910	N	0.103318	T	0.11836	0.0288	N	0.22421	0.69	0.09310	N	1	P;P;P	0.39094	0.468;0.659;0.468	B;B;B	0.37387	0.086;0.248;0.086	T	0.19976	-1.0289	10	0.62326	D	0.03	-13.4069	1.9986	0.03462	0.1624:0.5009:0.1573:0.1793	.	622;622;714	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	Y	714;622;622;622	ENSP00000261655:D714Y;ENSP00000440347:D622Y;ENSP00000439159:D622Y	ENSP00000261655:D714Y	D	-	1	0	RIMBP2	129485294	0.902000	0.30710	0.005000	0.12908	0.014000	0.08584	3.496000	0.53288	1.093000	0.41377	0.561000	0.74099	GAC		0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		7	159	1	0	0.0381472	1	0.0387527	7	159				
GLIS3	169792	broad.mit.edu	37	9	3828281	3828281	+	Silent	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr9:3828281G>A	ENST00000324333.10	-	10	2512	c.2319C>T	c.(2317-2319)acC>acT	p.T773T	GLIS3_ENST00000381971.3_Silent_p.T928T|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	773					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTTAGCCTTCGGTGTAGACAG	0.552																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(2317-2319)acC>acT		GLIS family zinc finger 3							58.0	60.0	59.0					9																	3828281		2203	4300	6503	SO:0001819	synonymous_variant	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3828281G>A	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2319C>T	9.37:g.3828281G>A						GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.T928T	p.T773T	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	10	2512	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	773					B1AL19|Q1PHK5	Silent	SNP	ENST00000324333.10	37	c.2319C>T	CCDS6451.1																																																																																				0.552	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		3	56	0	0	0	1	0	3	56				
BARHL1	56751	broad.mit.edu	37	9	135458234	135458234	+	Missense_Mutation	SNP	C	C	T	rs141976331		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr9:135458234C>T	ENST00000263610.2	+	1	663	c.50C>T	c.(49-51)gCg>gTg	p.A17V	BARHL1_ENST00000542090.1_Missense_Mutation_p.A17V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	17					midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TCCCACCGCGCGGGCAGCCCC	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		11133	0.0		0.001	False		,,,				2504	0.0					ENST00000263610.2																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)	8						c.(49-51)gCg>gTg		BarH-like homeobox 1		C	VAL/ALA	0,4406		0,0,2203	53.0	57.0	55.0		50	4.1	1.0	9	dbSNP_134	55	4,8596	4.3+/-15.6	0,4,4296	yes	missense	BARHL1	NM_020064.3	64	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign	17/328	135458234	4,13002	2203	4300	6503	SO:0001583	missense	56751					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:135458234C>T	AJ237816	CCDS6950.1	9q34.13	2011-06-20	2007-07-09		ENSG00000125492	ENSG00000125492		"""Homeoboxes / ANTP class : NKL subclass"""	953	protein-coding gene	gene with protein product		605211	"""BarH (Drosophila)-like 1"""				Standard	NM_020064		Approved		uc004cbp.1	Q9BZE3	OTTHUMG00000020839	ENST00000263610.2:c.50C>T	9.37:g.135458234C>T	ENSP00000263610:p.Ala17Val					BARHL1_ENST00000542090.1_Missense_Mutation_p.A17V	p.A17V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)	1	663	+			17					Q5T6V2|Q9NY88	Missense_Mutation	SNP	ENST00000263610.2	37	c.50C>T	CCDS6950.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	C	15.23	2.773221	0.49680	0.0	4.65E-4	ENSG00000125492	ENST00000263610;ENST00000542090	D;D	0.91011	-2.77;-2.77	4.1	4.1	0.47936	.	0.064266	0.64402	D	0.000008	D	0.82356	0.5019	N	0.14661	0.345	0.44587	D	0.997555	B	0.17852	0.024	B	0.08055	0.003	T	0.78463	-0.2194	10	0.37606	T	0.19	.	15.0759	0.72077	0.0:1.0:0.0:0.0	.	17	Q9BZE3	BARH1_HUMAN	V	17	ENSP00000263610:A17V;ENSP00000444704:A17V	ENSP00000263610:A17V	A	+	2	0	BARHL1	134448055	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	5.135000	0.64777	2.109000	0.64355	0.549000	0.68633	GCG		0.662	BARHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054789.2			4	107	0	0	0	1	0	4	107				
PAQR8	85315	broad.mit.edu	37	6	52268580	52268580	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268580C>G	ENST00000442253.2	+	2	743	c.569C>G	c.(568-570)tCt>tGt	p.S190C	PAQR8_ENST00000360726.3_Missense_Mutation_p.S190C	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	190					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GGCTGGTTATCTTGTGCTGGC	0.512																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(568-570)tCt>tGt		progestin and adipoQ receptor family member VIII							117.0	99.0	105.0					6																	52268580		2203	4300	6503	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268580C>G	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.569C>G	6.37:g.52268580C>G	ENSP00000406197:p.Ser190Cys					PAQR8_ENST00000360726.3_Missense_Mutation_p.S190C	p.S190C	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	743	+	Lung NSC(77;0.0875)		190					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.569C>G	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408756	0.62399	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.32753	1.44;1.44	5.41	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42155	-0.9468	9	.	.	.	-12.9309	13.2266	0.59919	0.0:0.9233:0.0:0.0767	.	190	Q8TEZ7	MPRB_HUMAN	C	190	ENSP00000406197:S190C;ENSP00000353953:S190C	.	S	+	2	0	PAQR8	52376539	1.000000	0.71417	0.055000	0.19348	0.902000	0.53008	7.818000	0.86416	1.278000	0.44430	0.563000	0.77884	TCT		0.512	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		4	86	0	0	0	1	0	4	86				
NACA	4666	broad.mit.edu	37	12	57112272	57112272	+	Silent	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:57112272C>T	ENST00000454682.1	-	3	3323	c.3042G>A	c.(3040-3042)gtG>gtA	p.V1014V	NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1014	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGGGAGGAGTCACAGCTGGGG	0.657			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3040-3042)gtG>gtA		nascent polypeptide-associated complex alpha subunit							31.0	37.0	35.0					12																	57112272		1543	3531	5074	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57112272C>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3042G>A	12.37:g.57112272C>T						NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	p.V1014V	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3323	-			0						Silent	SNP	ENST00000454682.1	37	c.3042G>A																																																																																					0.657	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		4	116	0	0	0	1	0	4	116				
BUB1B	701	broad.mit.edu	37	15	40501921	40501921	+	Silent	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:40501921G>A	ENST00000287598.6	+	17	2424	c.2229G>A	c.(2227-2229)ttG>ttA	p.L743L	BUB1B_ENST00000412359.3_Silent_p.L757L	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	743					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CTGCAGAGTTGTGTATAGAAG	0.448			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(2227-2229)ttG>ttA		BUB1 mitotic checkpoint serine/threonine kinase B							130.0	130.0	130.0					15																	40501921		2203	4300	6503	SO:0001819	synonymous_variant	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40501921G>A	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.2229G>A	15.37:g.40501921G>A						BUB1B_ENST00000412359.3_Silent_p.L757L	p.L743L	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	17	2424	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	743					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Silent	SNP	ENST00000287598.6	37	c.2229G>A	CCDS10053.1																																																																																				0.448	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			39	61	0	0	0	1	0	39	61				
PAQR8	85315	broad.mit.edu	37	6	52268889	52268889	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268889C>T	ENST00000442253.2	+	2	1052	c.878C>T	c.(877-879)aCg>aTg	p.T293M	PAQR8_ENST00000360726.3_Missense_Mutation_p.T293M	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	293					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCATCTGTACGCTCTCCCAG	0.587																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(877-879)aCg>aTg		progestin and adipoQ receptor family member VIII							89.0	84.0	86.0					6																	52268889		2203	4300	6503	SO:0001583	missense	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268889C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.878C>T	6.37:g.52268889C>T	ENSP00000406197:p.Thr293Met					PAQR8_ENST00000360726.3_Missense_Mutation_p.T293M	p.T293M	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	1052	+	Lung NSC(77;0.0875)		293					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Missense_Mutation	SNP	ENST00000442253.2	37	c.878C>T	CCDS4941.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493186	0.84962	.	.	ENSG00000170915	ENST00000442253;ENST00000360726	T;T	0.32515	1.45;1.45	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61652	-0.7019	9	.	.	.	-10.1123	18.6884	0.91574	0.0:1.0:0.0:0.0	.	293	Q8TEZ7	MPRB_HUMAN	M	293	ENSP00000406197:T293M;ENSP00000353953:T293M	.	T	+	2	0	PAQR8	52376848	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	7.818000	0.86416	2.657000	0.90304	0.655000	0.94253	ACG		0.587	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		5	56	0	0	0	1	0	5	56				
FAT3	120114	broad.mit.edu	37	11	92577146	92577146	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:92577146G>A	ENST00000298047.6	+	18	10630	c.10613G>A	c.(10612-10614)cGc>cAc	p.R3538H	FAT3_ENST00000409404.2_Missense_Mutation_p.R3538H|FAT3_ENST00000533797.1_5'Flank|FAT3_ENST00000525166.1_Missense_Mutation_p.R3388H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3538	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTTACATCCGCGTGCGAGTC	0.468										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(10612-10614)cGc>cAc		FAT atypical cadherin 3							169.0	165.0	166.0					11																	92577146		1935	4142	6077	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577146G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10613G>A	11.37:g.92577146G>A	ENSP00000298047:p.Arg3538His	TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Missense_Mutation_p.R3388H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3538H	p.R3538H			Q8TDW7	FAT3_HUMAN			18	10630	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3538			Cadherin 32.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10613G>A		.	.	.	.	.	.	.	.	.	.	G	4.008	-0.001180	0.07819	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.07800	3.16;3.16;3.16	5.62	1.7	0.24286	.	.	.	.	.	T	0.04048	0.0113	N	0.05510	-0.035	0.33044	D	0.53182	B	0.09022	0.002	B	0.06405	0.002	T	0.28933	-1.0028	9	0.31617	T	0.26	.	7.2209	0.25985	0.5237:0.0:0.4763:0.0	.	3538	Q8TDW7-3	.	H	3538;3538;3388	ENSP00000298047:R3538H;ENSP00000387040:R3538H;ENSP00000432586:R3388H	ENSP00000298047:R3538H	R	+	2	0	FAT3	92216794	0.260000	0.24053	0.100000	0.21137	0.179000	0.23085	1.490000	0.35573	0.332000	0.23536	-0.254000	0.11334	CGC		0.468	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	237	0	0	0	1	0	10	237				
PAQR8	85315	broad.mit.edu	37	6	52268842	52268842	+	Silent	SNP	C	C	A	rs34615735	byFrequency	TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268842C>A	ENST00000442253.2	+	2	1005	c.831C>A	c.(829-831)atC>atA	p.I277I	PAQR8_ENST00000360726.3_Silent_p.I277I	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	277					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCTGTGACATCGTGGGCCATG	0.572																																						ENST00000442253.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17						c.(829-831)atC>atA		progestin and adipoQ receptor family member VIII							119.0	108.0	112.0					6																	52268842		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268842C>A	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.831C>A	6.37:g.52268842C>A						PAQR8_ENST00000360726.3_Silent_p.I277I	p.I277I	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN			2	1005	+	Lung NSC(77;0.0875)		277					B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.831C>A	CCDS4941.1																																																																																				0.572	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		5	68	1	0	0.217242	1	0.217242	5	68				
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	lincRNA	SNP	C	C	G	rs1996904		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508									long intergenic non-protein coding RNA 969																		TGTCACGAATCTTGACAAATT	0.418																																						ENST00000445430.1																			0																																																			0							g.chr3:195404651C>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195404651C>G														0	1508	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.418	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	36	0	0	0	1	0	3	36				
FMN1	342184	broad.mit.edu	37	15	33261413	33261413	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:33261413G>T	ENST00000559047.1	-	5	2488	c.2489C>A	c.(2488-2490)cCc>cAc	p.P830H	FMN1_ENST00000561249.1_Missense_Mutation_p.P732H|FMN1_ENST00000334528.9_Missense_Mutation_p.P607H|SNORD77_ENST00000391113.1_RNA			Q68DA7	FMN1_HUMAN	formin 1	830	Mediates interaction with alpha-catenin. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAGCTTTTTGGGTACTAATTG	0.468																																						ENST00000334528.9																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(1819-1821)cCc>cAc		formin 1							272.0	252.0	259.0					15																	33261413		1986	4173	6159	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33261413G>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2489C>A	15.37:g.33261413G>T	ENSP00000454047:p.Pro830His					FMN1_ENST00000559047.1_Missense_Mutation_p.P830H|FMN1_ENST00000561249.1_Missense_Mutation_p.P732H	p.P607H	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	4	1819	-		all_lung(180;1.14e-07)	830			Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1820C>A		.	.	.	.	.	.	.	.	.	.	G	15.92	2.974692	0.53720	.	.	ENSG00000248905	ENST00000334528	T	0.56611	0.45	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.71178	0.3309	M	0.68952	2.095	.	.	.	D	0.89917	1.0	D	0.97110	1.0	T	0.76841	-0.2810	9	0.87932	D	0	.	17.2271	0.86973	0.0:0.0:1.0:0.0	.	607	Q68DA7-5	.	H	607	ENSP00000333950:P607H	ENSP00000333950:P607H	P	-	2	0	FMN1	31048705	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.538000	0.82048	2.291000	0.77112	0.555000	0.69702	CCC		0.468	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		99	133	1	0	3.77759e-48	1	4.02943e-48	99	133				
MAG	4099	broad.mit.edu	37	19	35793406	35793406	+	Silent	SNP	G	G	A	rs200660504		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr19:35793406G>A	ENST00000392213.3	+	7	1185	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	MAG_ENST00000537831.2_Silent_p.T317T|MAG_ENST00000361922.4_Silent_p.T342T	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	342	Ig-like C2-type 3.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGGGGAGACGGTCTCTATCT	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		20000	0.001		0.0	False		,,,				2504	0.0					ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1024-1026)acG>acA		myelin associated glycoprotein							108.0	89.0	96.0					19																	35793406		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35793406G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1026G>A	19.37:g.35793406G>A						MAG_ENST00000392213.3_Silent_p.T342T|MAG_ENST00000537831.2_Silent_p.T317T	p.T342T	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1176	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	342			Ig-like C2-type 3.		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.1026G>A	CCDS12455.1																																																																																				0.577	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		27	47	0	0	0	1	0	27	47				
BCHE	590	broad.mit.edu	37	3	165491240	165491240	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:165491240delT	ENST00000264381.3	-	4	1905	c.1739delA	c.(1738-1740)aatfs	p.N580fs	BCHE_ENST00000540653.1_Frame_Shift_Del_p.N42fs	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	580					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CATCATGTAATTGTTCCAGCG	0.313																																						ENST00000264381.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(1738-1740)atfs		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						126.0	121.0	123.0					3																	165491240		2202	4300	6502	SO:0001589	frameshift_variant	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165491240delT	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1739delA	3.37:g.165491240delT	ENSP00000264381:p.Asn580fs					BCHE_ENST00000540653.1_Frame_Shift_Del_p.N42fs	p.N580fs	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN			4	1905	-			580					A8K7P8	Frame_Shift_Del	DEL	ENST00000264381.3	37	c.1739delA	CCDS3198.1																																																																																				0.313	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			13	7						13	7	---	---	---	---
PTPN12	5782	broad.mit.edu	37	7	77221501	77221502	+	Splice_Site	INS	-	-	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr7:77221501_77221502insA	ENST00000248594.6	+	6	692_693		c.e6-1		PTPN12_ENST00000415482.2_Splice_Site|PTPN12_ENST00000435495.2_Splice_Site	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12						protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTGGATGACAGAAAAAATGTGA	0.317																																						ENST00000248594.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.e6-1		protein tyrosine phosphatase, non-receptor type 12																																				SO:0001630	splice_region_variant	0					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77221501_77221502insA		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.421-1->A	7.37:g.77221507_77221507dupA						PTPN12_ENST00000435495.2_Splice_Site|PTPN12_ENST00000415482.2_Splice_Site		NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN			6	692_693	+								A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Splice_Site	INS	ENST00000248594.6	37		CCDS5592.1																																																																																				0.317	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		Intron	27	53						27	53	---	---	---	---
LINC00202-1	387644	broad.mit.edu	37	10	27223572	27223573	+	lincRNA	INS	-	-	A	rs370471716|rs397846831|rs564292566	byFrequency	TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr10:27223572_27223573insA	ENST00000431296.1	-	0	3159					NR_026795.1				long intergenic non-protein coding RNA 202-1																		CTACTTCTTACaaaaaataaat	0.322													?|AAAAAA|AAAAAAA|unsure	104	0.0207668	0.0015	0.0288	5008	,	,		16578	0.0		0.0656	False		,,,				2504	0.0164					ENST00000431296.1																			0																																																			0							g.chr10:27223572_27223573insA	AK097405		10p12.1	2012-12-18	2012-12-18	2012-12-18	ENSG00000232224	ENSG00000232224		"""Long non-coding RNAs"""	24672	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 51"", ""non-protein coding RNA 202"", ""long intergenic non-protein coding RNA 202"""	C10orf51, NCRNA00202, LINC00202			Standard	NR_026795		Approved	bB27G4.1	uc001itf.2		OTTHUMG00000017849		10.37:g.27223578_27223578dupA								NR_026795.1						0	3159	-									RNA	INS	ENST00000431296.1	37																																																																																						0.322	LINC00202-1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047293.1	NR_026795		2	4						2	4	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-	rs377012965		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:43283606delA	ENST00000511537.1	-	0	1329					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		AAGCAAATGTAAAAAAAAAAA	0.388																																						ENST00000511537.1																			0																																																			0							g.chr11:43283606delA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283606delA								NR_033868.1						0	1329	-									RNA	DEL	ENST00000511537.1	37																																																																																						0.388	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		5	6						5	6	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-	rs536181176	byFrequency	TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:12647692_12647694delCAG	ENST00000343344.4	+	8	910_912	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_In_Frame_Del_p.Q214del|MYOCD_ENST00000425538.1_In_Frame_Del_p.Q310del			Q8IZQ8	MYCD_HUMAN	myocardin	310	Gln-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596														27	0.00539137	0.0098	0.0029	5008	,	,		19180	0.001		0.001	False		,,,				2504	0.0102					ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(910-912)del		myocardin			,,	189,4075		0,189,1943					,,	3.1	1.0			38	472,7780		2,468,3656	no	coding,coding,coding	MYOCD	NM_153604.2,NM_001146313.1,NM_001146312.1	,,	2,657,5599	A1A1,A1R,RR		5.7198,4.4325,5.2812	,,	,,		661,11855				SO:0001651	inframe_deletion	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12647692_12647694delCAG	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.910_912delCAG	17.37:g.12647701_12647703delCAG	ENSP00000341835:p.Gln310del					MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del	p.Q310del	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	8	1110_1112	+			310			Gln-rich.		Q5UBU5|Q8N7Q1	In_Frame_Del	DEL	ENST00000343344.4	37	c.910_912delCAG	CCDS11163.1																																																																																				0.596	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		7	50						7	50	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			4	7						4	7	---	---	---	---
