#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
DCAF4L1	285429	broad.mit.edu	37	4	41983829	41983829	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr4:41983829G>A	ENST00000333141.5	+	1	117	c.20G>A	c.(19-21)cGa>cAa	p.R7Q		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	7										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAAAGGCTGCGACTCCTCGAG	0.502																																						ENST00000333141.5																			0				breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(19-21)cGa>cAa		DDB1 and CUL4 associated factor 4-like 1							83.0	83.0	83.0					4																	41983829		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41983829G>A	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.20G>A	4.37:g.41983829G>A	ENSP00000327796:p.Arg7Gln						p.R7Q	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	117	+			7					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.20G>A	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	1.370	-0.586475	0.03827	.	.	ENSG00000182308	ENST00000333141	T	0.38887	1.11	0.815	-0.951	0.10369	.	0.667308	0.15593	N	0.254294	T	0.14787	0.0357	N	0.04203	-0.255	0.22858	N	0.998648	B	0.10296	0.003	B	0.01281	0.0	T	0.23511	-1.0186	10	0.13470	T	0.59	.	4.3815	0.11297	0.7028:0.0:0.2972:0.0	.	7	Q3SXM0	DC4L1_HUMAN	Q	7	ENSP00000327796:R7Q	ENSP00000327796:R7Q	R	+	2	0	DCAF4L1	41678586	0.993000	0.37304	0.023000	0.16930	0.068000	0.16541	0.184000	0.16939	-0.376000	0.07943	-0.379000	0.06801	CGA		0.502	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		5	86	0	0	0	1	0	5	86				
FRMPD3	84443	broad.mit.edu	37	X	106845820	106845820	+	Silent	SNP	C	C	T	rs41305439		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chrX:106845820C>T	ENST00000276185.4	+	16	4650	c.4650C>T	c.(4648-4650)tcC>tcT	p.S1550S				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1550						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ATGAGCTCTCCTACTCTATCC	0.567													c|||	7	0.0018543	0.0	0.0014	3775	,	,		16327	0.0		0.003	False		,,,				2504	0.0031					ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(4648-4650)tcC>tcT		FERM and PDZ domain containing 3				0,1418		0,0,0,542,334	135.0	121.0	126.0		4785	0.8	1.0	X	dbSNP_127	126	11,3096		0,9,2,1107,873	no	coding-synonymous	FRMPD3	XM_042978.7		0,9,2,1649,1207	TT,TC,T,CC,C		0.354,0.0,0.2431		1595/1856	106845820	11,4514	876	1991	2867	SO:0001819	synonymous_variant	84443					cytoskeleton		g.chrX:106845820C>T	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.4650C>T	X.37:g.106845820C>T							p.S1550S			Q5JV73	FRPD3_HUMAN			16	4650	+			1550					Q96JK8	Silent	SNP	ENST00000276185.4	37	c.4650C>T																																																																																					0.567	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		4	91	0	0	0	1	0	4	91				
FBN1	2200	broad.mit.edu	37	15	48905245	48905245	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr15:48905245C>G	ENST00000316623.5	-	3	664	c.209G>C	c.(208-210)gGa>gCa	p.G70A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	70					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTTTTCCATCCAGGGCAACA	0.383																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(208-210)gGa>gCa		fibrillin 1							146.0	142.0	144.0					15																	48905245		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48905245C>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.209G>C	15.37:g.48905245C>G	ENSP00000325527:p.Gly70Ala						p.G70A	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	3	664	-		all_lung(180;0.00279)	70					B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.209G>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	30	5.051077	0.93740	.	.	ENSG00000166147	ENST00000316623;ENST00000544030;ENST00000537463	D;T	0.88124	-2.34;-0.25	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.94971	0.8373	M	0.91972	3.26	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.95571	0.8638	10	0.66056	D	0.02	.	18.742	0.91777	0.0:1.0:0.0:0.0	.	70	P35555	FBN1_HUMAN	A	70	ENSP00000325527:G70A;ENSP00000440294:G70A	ENSP00000325527:G70A	G	-	2	0	FBN1	46692537	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.227000	0.78070	2.662000	0.90505	0.591000	0.81541	GGA		0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			15	134	0	0	0	1	0	15	134				
ATP2B4	493	broad.mit.edu	37	1	203691620	203691620	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:203691620G>A	ENST00000357681.5	+	18	3950	c.2827G>A	c.(2827-2829)Gat>Aat	p.D943N	ATP2B4_ENST00000391954.2_Missense_Mutation_p.D943N|ATP2B4_ENST00000341360.2_Missense_Mutation_p.D943N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.D943N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D931N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	943					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAATTCTTTGATATTGATAG	0.433																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(2827-2829)Gat>Aat		ATPase, Ca++ transporting, plasma membrane 4							104.0	97.0	100.0					1																	203691620		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203691620G>A	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2827G>A	1.37:g.203691620G>A	ENSP00000350310:p.Asp943Asn					ATP2B4_ENST00000341360.2_Missense_Mutation_p.D943N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.D943N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D931N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.D943N	p.D943N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		18	3950	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		943					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.2827G>A	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763236	0.49574	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76	5.1	4.18	0.49190	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.231170	0.30464	N	0.009561	D	0.92107	0.7498	N	0.20986	0.625	0.54753	D	0.999985	P;B;B	0.41366	0.747;0.005;0.338	P;B;B	0.44447	0.45;0.024;0.282	D	0.90058	0.4154	10	0.26408	T	0.33	-14.3552	15.3374	0.74269	0.0:0.1402:0.8598:0.0	.	943;943;943	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	N	943;943;931;943;943	ENSP00000350310:D943N;ENSP00000356187:D943N;ENSP00000356188:D931N;ENSP00000375816:D943N;ENSP00000340930:D943N	ENSP00000340930:D943N	D	+	1	0	ATP2B4	201958243	1.000000	0.71417	0.990000	0.47175	0.695000	0.40330	3.839000	0.55835	1.129000	0.42072	0.655000	0.94253	GAT		0.433	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		29	73	0	0	0	1	0	29	73				
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	64								p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I64T(4)	urinary_tract(2)|prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(190-192)aTt>aCt																																						SO:0001583	missense	0							g.chr20:29625947T>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.191T>C	20.37:g.29625947T>C	ENSP00000278882:p.Ile64Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T	p.I64T							5	571	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.191T>C		.	.	.	.	.	.	.	.	.	.	t	11.16	1.557441	0.27827	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.53640	0.61	1.68	1.68	0.24146	.	0.048324	0.85682	N	0.000000	T	0.39279	0.1072	.	.	.	0.50313	D	0.999869	B	0.11235	0.004	B	0.30943	0.122	T	0.37549	-0.9701	9	0.62326	D	0.03	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	69	F5H5R5	.	T	64;69;64	ENSP00000408863:I69T	ENSP00000278882:I64T	I	+	2	0	FRG1B	28239608	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	ATT		0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	126	0	0	0	1	0	7	126				
TNFAIP6	7130	broad.mit.edu	37	2	152235947	152235947	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:152235947T>C	ENST00000243347.3	+	6	809	c.734T>C	c.(733-735)gTt>gCt	p.V245A		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	245	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	ATCAAATATGTTGCAATGGAT	0.378																																						ENST00000243347.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(733-735)gTt>gCt		tumor necrosis factor, alpha-induced protein 6							119.0	125.0	123.0					2																	152235947		2203	4300	6503	SO:0001583	missense	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152235947T>C		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.734T>C	2.37:g.152235947T>C	ENSP00000243347:p.Val245Ala						p.V245A	NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	6	809	+			245			CUB.		Q53TI7|Q8WWI9	Missense_Mutation	SNP	ENST00000243347.3	37	c.734T>C	CCDS2193.1	.	.	.	.	.	.	.	.	.	.	T	9.844	1.191751	0.21954	.	.	ENSG00000123610	ENST00000243347	T	0.28255	1.62	5.66	4.5	0.54988	CUB (4);	0.599534	0.17982	N	0.155491	T	0.14485	0.0350	N	0.12527	0.23	0.09310	N	1	B	0.17038	0.02	B	0.12837	0.008	T	0.31166	-0.9953	10	0.08837	T	0.75	.	7.6393	0.28284	0.0:0.2312:0.0:0.7688	.	245	P98066	TSG6_HUMAN	A	245	ENSP00000243347:V245A	ENSP00000243347:V245A	V	+	2	0	TNFAIP6	151944193	0.000000	0.05858	0.014000	0.15608	0.693000	0.40251	0.782000	0.26788	0.966000	0.38159	0.533000	0.62120	GTT		0.378	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		15	159	0	0	0	1	0	15	159				
TRPC4	7223	broad.mit.edu	37	13	38320195	38320195	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr13:38320195G>A	ENST00000379705.3	-	3	1633	c.776C>T	c.(775-777)aCg>aTg	p.T259M	TRPC4_ENST00000379681.3_Missense_Mutation_p.T259M|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.T259M|TRPC4_ENST00000379673.2_Missense_Mutation_p.T259M|TRPC4_ENST00000358477.2_Missense_Mutation_p.T259M|TRPC4_ENST00000426868.2_Missense_Mutation_p.T259M|TRPC4_ENST00000447043.1_Missense_Mutation_p.T259M			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	259	Multimerization domain. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGAACTTCTCGTCTGATCCAG	0.413																																						ENST00000379705.3																			0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.(775-777)aCg>aTg		transient receptor potential cation channel, subfamily C, member 4							167.0	156.0	160.0					13																	38320195		2203	4300	6503	SO:0001583	missense	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38320195G>A	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.776C>T	13.37:g.38320195G>A	ENSP00000369027:p.Thr259Met					TRPC4_ENST00000355779.2_Missense_Mutation_p.T259M|TRPC4_ENST00000426868.2_Missense_Mutation_p.T259M|TRPC4_ENST00000447043.1_Missense_Mutation_p.T259M|TRPC4_ENST00000379673.2_Missense_Mutation_p.T259M|TRPC4_ENST00000358477.2_Missense_Mutation_p.T259M|TRPC4_ENST00000379681.3_Missense_Mutation_p.T259M|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron	p.T259M			Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	3	1633	-			259			Multimerization domain (By similarity).		B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Missense_Mutation	SNP	ENST00000379705.3	37	c.776C>T	CCDS9365.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382028	0.82792	.	.	ENSG00000133107	ENST00000379705;ENST00000379681;ENST00000426868;ENST00000355779;ENST00000358477;ENST00000379673;ENST00000447043	T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.81955	0.4932	M	0.81802	2.56	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.979;0.961;0.997;0.979;0.973	T	0.82313	-0.0519	10	0.72032	D	0.01	-26.0862	20.6593	0.99626	0.0:0.0:1.0:0.0	.	259;259;259;259;259	Q9UBN4-3;Q9UBN4-4;Q9UBN4-5;Q9UBN4-2;Q9UBN4	.;.;.;.;TRPC4_HUMAN	M	259	ENSP00000369027:T259M;ENSP00000369003:T259M;ENSP00000410133:T259M;ENSP00000348025:T259M;ENSP00000351264:T259M;ENSP00000368995:T259M;ENSP00000414316:T259M	ENSP00000348025:T259M	T	-	2	0	TRPC4	37218195	1.000000	0.71417	0.995000	0.50966	0.788000	0.44548	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	ACG		0.413	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	NM_003306		58	131	0	0	0	1	0	58	131				
OBSCN	84033	broad.mit.edu	37	1	228466409	228466409	+	Silent	SNP	G	G	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:228466409G>A	ENST00000422127.1	+	26	6923	c.6879G>A	c.(6877-6879)gtG>gtA	p.V2293V	OBSCN_ENST00000570156.2_Silent_p.V2722V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.V1140V|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602529.1_RNA|RP5-1139B12.3_ENST00000602947.1_RNA|OBSCN_ENST00000284548.11_Silent_p.V2293V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2293	Ig-like 23.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGACCCTCGTGCGCCCGCTGC	0.667																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(8164-8166)gtG>gtA		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							40.0	47.0	44.0					1																	228466409		2111	4230	6341	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228466409G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.6879G>A	1.37:g.228466409G>A						OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.V2293V|OBSCN_ENST00000359599.6_Silent_p.V1140V|OBSCN_ENST00000284548.11_Silent_p.V2293V	p.V2722V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			31	8240	+		Prostate(94;0.0405)	1720			Ig-like 26.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.8166G>A	CCDS58065.1																																																																																				0.667	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		11	84	0	0	0	1	0	11	84				
GAS2L2	246176	broad.mit.edu	37	17	34072984	34072984	+	Missense_Mutation	SNP	C	C	T	rs144024552		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr17:34072984C>T	ENST00000254466.6	-	6	1559	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R495H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	511					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGTTGGGGGGCGAGCAGGGGG	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19127	0.0		0.0	False		,,,				2504	0.0					ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1531-1533)cGc>cAc		growth arrest-specific 2 like 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	41.0	47.0	45.0		1532	-0.2	0.0	17	dbSNP_134	45	0,8600		0,0,4300	no	missense	GAS2L2	NM_139285.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	511/881	34072984	1,13005	2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34072984C>T	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1532G>A	17.37:g.34072984C>T	ENSP00000254466:p.Arg511His					GAS2L2_ENST00000587565.1_Missense_Mutation_p.R495H	p.R511H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1559	-		Ovarian(249;0.17)	511					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1532G>A	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.302431	0.23736	2.27E-4	0.0	ENSG00000132139	ENST00000254466	T	0.20598	2.06	5.19	-0.158	0.13383	.	1.148570	0.06249	N	0.691803	T	0.13927	0.0337	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35251	-0.9796	10	0.36615	T	0.2	-0.0957	10.134	0.42695	0.0:0.6882:0.0:0.3118	.	511	Q8NHY3	GA2L2_HUMAN	H	511	ENSP00000254466:R511H	ENSP00000254466:R511H	R	-	2	0	GAS2L2	31097097	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.691000	0.00830	-0.109000	0.12044	-0.940000	0.02684	CGC		0.607	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		26	77	0	0	0	1	0	26	77				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	6	58	0	0	0	1	0	6	58				
GLIS1	148979	broad.mit.edu	37	1	53975547	53975547	+	Silent	SNP	T	T	G			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:53975547T>G	ENST00000312233.2	-	8	2078	c.1512A>C	c.(1510-1512)ccA>ccC	p.P504P		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GAGGCGGGGGTGGAGGGCTCT	0.672																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(1510-1512)ccA>ccC		GLIS family zinc finger 1							13.0	16.0	15.0					1																	53975547		2189	4285	6474	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53975547T>G	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1512A>C	1.37:g.53975547T>G							p.P504P	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			8	2078	-			504			Pro-rich.			Silent	SNP	ENST00000312233.2	37	c.1512A>C	CCDS582.1																																																																																				0.672	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		4	17	0	0	0	1	0	4	17				
ELTD1	64123	broad.mit.edu	37	1	79470893	79470893	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:79470893T>A	ENST00000370742.3	-	2	97	c.34A>T	c.(34-36)Act>Tct	p.T12S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	12					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCAACAAAGTGGAAAAAACC	0.313																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(34-36)Act>Tct		EGF, latrophilin and seven transmembrane domain containing 1							58.0	50.0	53.0					1																	79470893		1805	4073	5878	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79470893T>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.34A>T	1.37:g.79470893T>A	ENSP00000359778:p.Thr12Ser						p.T12S	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	2	97	-			12					B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.34A>T	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	T	7.625	0.677707	0.14841	.	.	ENSG00000162618	ENST00000370742	T	0.35973	1.28	5.65	5.65	0.86999	.	0.169488	0.50627	D	0.000101	T	0.09069	0.0224	N	0.11000	0.08	0.33313	D	0.566298	P	0.35192	0.489	B	0.34093	0.175	T	0.15464	-1.0436	9	.	.	.	.	12.2707	0.54704	0.0:0.0:0.0:1.0	.	12	Q9HBW9	ELTD1_HUMAN	S	12	ENSP00000359778:T12S	.	T	-	1	0	ELTD1	79243481	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.208000	0.58486	2.155000	0.67459	0.482000	0.46254	ACT		0.313	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		12	31	0	0	0	1	0	12	31				
MED15	51586	broad.mit.edu	37	22	20922879	20922879	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr22:20922879G>C	ENST00000263205.7	+	8	1182	c.1113G>C	c.(1111-1113)caG>caC	p.Q371H	MED15_ENST00000382974.2_Missense_Mutation_p.Q300H|MED15_ENST00000425759.2_Missense_Mutation_p.Q260H|MED15_ENST00000292733.7_Missense_Mutation_p.Q371H|MED15_ENST00000541476.1_Missense_Mutation_p.Q345H|MED15_ENST00000406969.1_Missense_Mutation_p.Q345H|MED15_ENST00000542773.1_Missense_Mutation_p.Q176H|MED15_ENST00000478831.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	371	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGCAGTACAGACAGCTCAGG	0.617																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(1111-1113)caG>caC		mediator complex subunit 15							33.0	34.0	34.0					22																	20922879		2202	4300	6502	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20922879G>C	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1113G>C	22.37:g.20922879G>C	ENSP00000263205:p.Gln371His					MED15_ENST00000292733.7_Missense_Mutation_p.Q371H|MED15_ENST00000542773.1_Missense_Mutation_p.176_176insH|MED15_ENST00000382974.2_Missense_Mutation_p.Q300H|MED15_ENST00000541476.1_Missense_Mutation_p.Q345H|MED15_ENST00000425759.2_Missense_Mutation_p.Q260H|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.Q345H	p.Q371H	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		8	1182	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	371			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1113G>C	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288651	0.40494	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000542773;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	D;D;D	0.84516	-1.86;-1.86;-1.86	5.92	1.3	0.21679	Mediator complex, subunit Med15, metazoa (1);	0.229569	0.45361	D	0.000372	T	0.76506	0.3997	L	0.39898	1.24	0.24601	N	0.993773	P;P;P;P;P	0.43231	0.527;0.527;0.471;0.471;0.801	P;P;B;B;P	0.44518	0.452;0.452;0.323;0.323;0.452	T	0.67035	-0.5772	10	0.45353	T	0.12	.	2.1629	0.03829	0.1748:0.1525:0.515:0.1577	.	317;390;345;371;371	B4DGD6;Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;MED15_HUMAN	H	260;371;176;371;345;300;345;317	ENSP00000292733:Q371H;ENSP00000384344:Q345H;ENSP00000443137:Q345H	ENSP00000263205:Q371H	Q	+	3	2	MED15	19252879	0.949000	0.32298	0.911000	0.35937	0.711000	0.40976	0.183000	0.16919	0.067000	0.16545	0.655000	0.94253	CAG		0.617	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		12	42	0	0	0	1	0	12	42				
C1QL2	165257	broad.mit.edu	37	2	119915213	119915213	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:119915213C>T	ENST00000272520.3	-	1	1252	c.633G>A	c.(631-633)atG>atA	p.M211I		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	211	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein oligomerization (GO:0051259)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CGCCGCCGCGCATGAGGATGT	0.637										HNSCC(49;0.14)																												ENST00000272520.3																			0				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						c.(631-633)atG>atA		complement component 1, q subcomponent-like 2							55.0	61.0	59.0					2																	119915213		2202	4300	6502	SO:0001583	missense	165257					collagen		g.chr2:119915213C>T	AF525315	CCDS42737.1	2q14.2	2009-05-20			ENSG00000144119	ENSG00000144119			24181	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 10"""	614330				18783346	Standard	NM_182528		Approved	CTRP10, C1QTNF10	uc002tlo.2	Q7Z5L3	OTTHUMG00000153271	ENST00000272520.3:c.633G>A	2.37:g.119915213C>T	ENSP00000272520:p.Met211Ile	HNSCC(49;0.14)					p.M211I	NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN			1	1252	-			211			C1q.			Missense_Mutation	SNP	ENST00000272520.3	37	c.633G>A	CCDS42737.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066187	0.76187	.	.	ENSG00000144119	ENST00000272520	T	0.21031	2.03	4.87	4.87	0.63330	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	T	0.28200	0.0696	L	0.46819	1.47	0.58432	D	0.999999	B	0.28470	0.213	B	0.40982	0.345	T	0.04930	-1.0917	9	.	.	.	.	16.7477	0.85477	0.0:1.0:0.0:0.0	.	211	Q7Z5L3	C1QL2_HUMAN	I	211	ENSP00000272520:M211I	.	M	-	3	0	C1QL2	119631683	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.586000	0.82596	2.541000	0.85698	0.561000	0.74099	ATG		0.637	C1QL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330527.2	NM_182528		25	45	0	0	0	1	0	25	45				
NBPF10	100132406	broad.mit.edu	37	1	145296448	145296448	+	Missense_Mutation	SNP	T	T	A	rs4996268		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:145296448T>A	ENST00000342960.5	+	3	405	c.370T>A	c.(370-372)Tat>Aat	p.Y124N	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	124						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.Y124N(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCGCTCATTGTATGAGCATCT	0.562																																						ENST00000342960.5																			2	Substitution - Missense(2)	p.Y124N(2)	kidney(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(370-372)Tat>Aat		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145296448T>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.370T>A	1.37:g.145296448T>A	ENSP00000345684:p.Tyr124Asn					RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.Y124N	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	3	405	+	all_hematologic(923;0.032)		124					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.370T>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.880827	0.00061	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.02552	4.25	1.04	-2.09	0.07232	.	.	.	.	.	T	0.00109	0.0003	N	0.00075	-2.25	0.09310	N	1	.	.	.	.	.	.	T	0.35351	-0.9792	7	0.02654	T	1	.	3.206	0.06666	0.3078:0.4616:0.0:0.2307	rs4996268	.	.	.	N	124;49;124	ENSP00000345684:Y124N	ENSP00000345684:Y124N	Y	+	1	0	NBPF10	144007805	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.048000	0.14078	-3.520000	0.00148	-3.904000	0.00016	TAT		0.562	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		18	424	0	0	0	1	0	18	424				
SNHG14	104472715	broad.mit.edu	37	15	25442635	25442635	+	RNA	SNP	G	G	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr15:25442635G>T	ENST00000424208.1	+	0	1611				SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-16_ENST00000363887.1_RNA|SNHG14_ENST00000456576.1_RNA|SNORD115-14_ENST00000363090.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CCTTCCTGATGCCCTGGTCTC	0.592																																						ENST00000424208.1																			0																																																			0							g.chr15:25442635G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25442635G>T						SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA		NR_003305.1						0	1611	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.592	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			34	69	1	0	2.46105e-21	1	2.60872e-21	34	69				
RAPGEF6	51735	broad.mit.edu	37	5	130766933	130766933	+	Missense_Mutation	SNP	G	G	A	rs147775864		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr5:130766933G>A	ENST00000509018.1	-	26	4289	c.4084C>T	c.(4084-4086)Cgt>Tgt	p.R1362C	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R1370C|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R1375C|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R1370C|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.R1412C	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1362	Ser-rich.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CAACTTCCACGACCACTGTCA	0.433																																					Melanoma(168;435 1955 13113 13877 23213)	ENST00000509018.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31						c.(4084-4086)Cgt>Tgt		Rap guanine nucleotide exchange factor (GEF) 6		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	95.0	96.0	96.0		4108,4123,4108,4084	5.1	1.0	5	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	RAPGEF6	NM_001164386.1,NM_001164387.1,NM_001164388.1,NM_016340.5	180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	1370/1610,1375/1510,1370/1505,1362/1602	130766933	1,13005	2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130766933G>A	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.4084C>T	5.37:g.130766933G>A	ENSP00000421684:p.Arg1362Cys					RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R1370C|FNIP1_ENST00000514667.1_Missense_Mutation_p.R1412C|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R1370C|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R1375C	p.R1362C	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	26	4289	-			1362			Ser-rich.		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.4084C>T	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.718367	0.89205	0.0	1.16E-4	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000514667	T;T;T;T;T	0.53640	0.72;0.61;0.62;0.72;0.86	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.70386	0.3218	M	0.75264	2.295	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.74118	-0.3768	10	0.87932	D	0	.	18.9069	0.92466	0.0:0.0:1.0:0.0	.	1370;1370;1412;1375;1362	A3KN82;B7ZML2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	C	1362;1375;1370;1370;1375;1412	ENSP00000421684:R1362C;ENSP00000309298:R1375C;ENSP00000426081:R1370C;ENSP00000296859:R1370C;ENSP00000426948:R1412C	ENSP00000426948:R1412C	R	-	1	0	RAPGEF6;FNIP1	130794832	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.626000	0.90969	2.552000	0.86080	0.655000	0.94253	CGT		0.433	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		39	73	0	0	0	1	0	39	73				
ZNF695	57116	broad.mit.edu	37	1	247151356	247151356	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:247151356T>C	ENST00000339986.7	-	4	608	c.461A>G	c.(460-462)aAa>aGa	p.K154R	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	154					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGAAAGTTTTTGCTATGAGT	0.348																																						ENST00000339986.7																			0				endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13						c.(460-462)aAa>aGa		zinc finger protein 695							201.0	192.0	195.0					1																	247151356		1879	4114	5993	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247151356T>C		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.461A>G	1.37:g.247151356T>C	ENSP00000341236:p.Lys154Arg					ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	p.K154R	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	608	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	154					Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.461A>G	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	T	12.75	2.030470	0.35797	.	.	ENSG00000197472	ENST00000339986	T	0.01981	4.52	0.459	0.459	0.16678	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	M	0.88031	2.925	0.09310	N	1	D	0.54772	0.968	B	0.39805	0.31	T	0.33189	-0.9878	9	0.72032	D	0.01	.	5.1621	0.15066	0.0:1.0E-4:0.0:0.9999	.	154	Q8IW36	ZN695_HUMAN	R	154	ENSP00000341236:K154R	ENSP00000341236:K154R	K	-	2	0	ZNF695	245217979	0.000000	0.05858	0.012000	0.15200	0.098000	0.18820	-1.092000	0.03366	0.403000	0.25479	0.164000	0.16699	AAA		0.348	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		24	245	0	0	0	1	0	24	245				
LRRC16A	55604	broad.mit.edu	37	6	25538149	25538149	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr6:25538149G>A	ENST00000329474.6	+	25	2502	c.2134G>A	c.(2134-2136)Gct>Act	p.A712T		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	712					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGGGGAGACGCTATCCAGGA	0.433																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2134-2136)Gct>Act		leucine rich repeat containing 16A							55.0	53.0	54.0					6																	25538149		1912	4119	6031	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25538149G>A	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.2134G>A	6.37:g.25538149G>A	ENSP00000331983:p.Ala712Thr						p.A712T	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			25	2502	+			712					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.2134G>A	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059471	0.36373	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.15834	2.39	5.61	4.74	0.60224	.	0.222293	0.46442	D	0.000289	T	0.03651	0.0104	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.23854	0.032;0.06;0.092;0.032	B;B;B;B	0.21151	0.015;0.011;0.033;0.015	T	0.34329	-0.9833	10	0.16896	T	0.51	.	6.1668	0.20394	0.1441:0.0:0.695:0.1609	.	712;712;712;712	Q5VZK9;B2RTQ5;Q5VZK9-2;B8X1J0	LR16A_HUMAN;.;.;.	T	712	ENSP00000331983:A712T	ENSP00000331983:A712T	A	+	1	0	LRRC16A	25646128	0.961000	0.32948	0.989000	0.46669	0.995000	0.86356	2.439000	0.44846	2.629000	0.89072	0.655000	0.94253	GCT		0.433	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		3	16	0	0	0	1	0	3	16				
SIRPB1	10326	broad.mit.edu	37	20	1592193	1592193	+	Intron	SNP	C	C	T	rs371465078	byFrequency	TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr20:1592193C>T	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000279477.7_Silent_p.Q81Q|SIRPB1_ENST00000568365.1_Silent_p.Q81Q|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCCTTCTTTCTGATTGTAGA	0.522													t|||	2823	0.563698	0.68	0.3876	5008	,	,		6072	0.631		0.3748	False		,,,				2504	0.6564					ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(241-243)caG>caA		signal-regulatory protein beta 1							94.0	111.0	106.0					20																	1592193		447	1317	1764	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592193C>T	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8321G>A	20.37:g.1592193C>T						SIRPB1_ENST00000568365.1_Silent_p.Q81Q|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381605.4_Intron	p.Q81Q	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	307	-			81			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.243G>A	CCDS13019.1																																																																																				0.522	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		4	56	0	0	0	1	0	4	56				
CAND2	23066	broad.mit.edu	37	3	12845003	12845003	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr3:12845003G>T	ENST00000456430.2	+	2	126	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	CAND2_ENST00000295989.5_Missense_Mutation_p.D29Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	29					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGCCACCAGCGACCTGATGTC	0.607																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(85-87)Gac>Tac		cullin-associated and neddylation-dissociated 2 (putative)							49.0	56.0	53.0					3																	12845003		2193	4292	6485	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12845003G>T		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.85G>T	3.37:g.12845003G>T	ENSP00000387641:p.Asp29Tyr					CAND2_ENST00000295989.5_Missense_Mutation_p.D29Y	p.D29Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			2	126	+			29					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.85G>T	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336094	0.81801	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.08008	3.14;3.14	4.59	4.59	0.56863	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.56541	-0.7962	10	0.62326	D	0.03	-10.8109	15.3036	0.73976	0.0:0.0:1.0:0.0	.	29;29	O75155;O75155-2	CAND2_HUMAN;.	Y	29	ENSP00000295989:D29Y;ENSP00000387641:D29Y	ENSP00000295989:D29Y	D	+	1	0	CAND2	12820003	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.532000	0.98057	2.537000	0.85549	0.655000	0.94253	GAC		0.607	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		4	79	1	0	1.23904e-05	1	1.26287e-05	4	79				
ALDH3A1	218	broad.mit.edu	37	17	19648303	19648303	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr17:19648303G>C	ENST00000457500.2	-	1	469	c.140C>G	c.(139-141)gCg>gGg	p.A47G	ALDH3A1_ENST00000395555.3_Missense_Mutation_p.A47G|ALDH3A1_ENST00000494157.2_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.A47G|ALDH3A1_ENST00000485231.1_Intron|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.A47G	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	47					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		TGCGGCCAGCGCGCCCACCAG	0.716																																						ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(139-141)gCg>gGg		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						5.0	6.0	6.0					17																	19648303		1870	3824	5694	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19648303G>C	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.140C>G	17.37:g.19648303G>C	ENSP00000411821:p.Ala47Gly					ALDH3A1_ENST00000225740.6_Missense_Mutation_p.A47G|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.A47G|ALDH3A1_ENST00000485231.1_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.A47G|ALDH3A1_ENST00000494157.2_Intron	p.A47G	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	1	469	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		47					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.140C>G	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310738	0.81358	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000439102;ENST00000426645	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	4.38	4.38	0.52667	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	.	.	.	.	D	0.92704	0.7681	H	0.98883	4.36	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.71870	0.975;0.975	D	0.95577	0.8643	9	0.62326	D	0.03	.	15.979	0.80091	0.0:0.0:1.0:0.0	.	47;47	A8K828;P30838	.;AL3A1_HUMAN	G	47;47;105;47;47;47;47	ENSP00000225740:A47G;ENSP00000378923:A47G;ENSP00000388469:A47G;ENSP00000411821:A47G;ENSP00000389766:A47G	ENSP00000225740:A47G	A	-	2	0	ALDH3A1	19588895	1.000000	0.71417	0.041000	0.18516	0.012000	0.07955	7.148000	0.77389	2.013000	0.59113	0.460000	0.39030	GCG		0.716	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		3	16	0	0	0	1	0	3	16				
TBX18	9096	broad.mit.edu	37	6	85457764	85457764	+	Silent	SNP	G	G	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr6:85457764G>A	ENST00000369663.5	-	5	1150	c.813C>T	c.(811-813)caC>caT	p.H271H	TBX18_ENST00000606784.1_Silent_p.H113H|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	271					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TACGGATGACGTGCACTCGCG	0.448																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(811-813)caC>caT		T-box 18							97.0	86.0	90.0					6																	85457764		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85457764G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.813C>T	6.37:g.85457764G>A						TBX18_ENST00000606784.1_Silent_p.H113H|TBX18_ENST00000606521.1_5'UTR	p.H271H	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	5	1150	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	271					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.813C>T	CCDS34495.1																																																																																				0.448	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		6	59	0	0	0	1	0	6	59				
ENTPD6	955	broad.mit.edu	37	20	25201904	25201904	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr20:25201904C>T	ENST00000376652.4	+	11	1143	c.980C>T	c.(979-981)tCt>tTt	p.S327F	ENTPD6_ENST00000354989.5_Missense_Mutation_p.S310F|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000360031.2_Missense_Mutation_p.S326F			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	327					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCTTGCTTGTCTCCCAGTTTC	0.512																																						ENST00000360031.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(976-978)tCt>tTt		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							155.0	136.0	143.0					20																	25201904		2203	4300	6503	SO:0001583	missense	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25201904C>T	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.980C>T	20.37:g.25201904C>T	ENSP00000365840:p.Ser327Phe					ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000376652.4_Missense_Mutation_p.S327F|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S310F	p.S326F	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN			11	1159	+			327					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.977C>T	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.04|19.04	3.750248|3.750248	0.69533|0.69533	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000433417|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000425813	.|T;T;T;T	.|0.10668	.|2.85;2.85;2.85;2.85	5.64|5.64	4.69|4.69	0.59074|0.59074	.|.	.|0.537042	.|0.21923	.|N	.|0.067130	T|T	0.23572|0.23572	0.0570|0.0570	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P;P;P	.|0.52463	.|0.923;0.923;0.953;0.831;0.916;0.897;0.897	.|P;P;P;P;P;P;P	.|0.57009	.|0.722;0.722;0.652;0.712;0.811;0.581;0.581	T|T	0.00634|0.00634	-1.1634|-1.1634	5|10	.|0.59425	.|D	.|0.04	-2.7207|-2.7207	14.0297|14.0297	0.64609|0.64609	0.0:0.8487:0.1513:0.0|0.0:0.8487:0.1513:0.0	.|.	.|309;327;327;310;326;326;327	.|B4DDM7;B4DNK6;E7EP89;O75354-2;D3DW49;Q5QPJ2;O75354	.|.;.;.;.;.;.;ENTP6_HUMAN	F|F	248|310;326;247;223;327;279	.|ENSP00000347084:S310F;ENSP00000353131:S326F;ENSP00000365840:S327F;ENSP00000390646:S279F	.|ENSP00000347084:S310F	L|S	+|+	1|2	0|0	ENTPD6|ENTPD6	25149904|25149904	0.537000|0.537000	0.26386|0.26386	0.003000|0.003000	0.11579|0.11579	0.982000|0.982000	0.71751|0.71751	4.296000|4.296000	0.59055|0.59055	1.515000|1.515000	0.48885|0.48885	0.561000|0.561000	0.74099|0.74099	CTC|TCT		0.512	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			20	43	0	0	0	1	0	20	43				
CHD5	26038	broad.mit.edu	37	1	6166702	6166702	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:6166702G>A	ENST00000262450.3	-	39	5815	c.5716C>T	c.(5716-5718)Cgc>Tgc	p.R1906C	CHD5_ENST00000378021.1_Missense_Mutation_p.R763C	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCCCGGCGCGGTTGGTCAGG	0.751																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(5716-5718)Cgc>Tgc		chromodomain helicase DNA binding protein 5							9.0	11.0	10.0					1																	6166702		2160	4256	6416	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6166702G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5716C>T	1.37:g.6166702G>A	ENSP00000262450:p.Arg1906Cys					CHD5_ENST00000378021.1_Missense_Mutation_p.R763C	p.R1906C	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	39	5815	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1906					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.5716C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	g	16.72	3.200465	0.58126	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	D;T	0.91686	-2.89;2.11	4.62	4.62	0.57501	.	0.000000	0.64402	D	0.000005	D	0.93446	0.7909	L	0.29908	0.895	0.54753	D	0.999987	D;D	0.89917	1.0;0.997	D;P	0.78314	0.991;0.649	D	0.94691	0.7874	10	0.87932	D	0	-15.9612	17.8275	0.88669	0.0:0.0:1.0:0.0	.	1906;763	Q8TDI0;Q5TG85	CHD5_HUMAN;.	C	1906;763;763	ENSP00000262450:R1906C;ENSP00000367260:R763C	ENSP00000262450:R1906C	R	-	1	0	CHD5	6089289	1.000000	0.71417	0.977000	0.42913	0.022000	0.10575	7.101000	0.76997	2.291000	0.77112	0.491000	0.48974	CGC		0.751	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		5	12	0	0	0	1	0	5	12				
RPL28	6158	broad.mit.edu	37	19	55898050	55898050	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr19:55898050A>T	ENST00000344063.2	+	3	823	c.194A>T	c.(193-195)aAg>aTg	p.K65M	RPL28_ENST00000560583.1_Missense_Mutation_p.K65M|RPL28_ENST00000431533.2_Missense_Mutation_p.K65M|RPL28_ENST00000558752.1_Missense_Mutation_p.K65M|RPL28_ENST00000560055.1_Missense_Mutation_p.K65M|RPL28_ENST00000558815.1_Missense_Mutation_p.K65M|TMEM238_ENST00000444469.3_5'Flank|RPL28_ENST00000559463.1_Missense_Mutation_p.K65M|RPL28_ENST00000458349.2_Missense_Mutation_p.K65M|RPL28_ENST00000428193.2_Missense_Mutation_p.K65M|RPL28_ENST00000558131.1_Intron			P46779	RL28_HUMAN	ribosomal protein L28	65					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTGGTCATTAAGCGGAGATCC	0.577																																						ENST00000344063.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6						c.(193-195)aAg>aTg		ribosomal protein L28							102.0	109.0	107.0					19																	55898050		2203	4300	6503	SO:0001583	missense	6158				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:55898050A>T	U14969	CCDS12924.1, CCDS46189.1, CCDS46190.1, CCDS46191.1, CCDS46192.1	19q13.4	2011-04-06				ENSG00000108107		"""L ribosomal proteins"""	10330	protein-coding gene	gene with protein product	"""60S ribosomal protein L28"""	603638				7772601, 9582194	Standard	NM_001136134		Approved	FLJ43307, L28	uc010yga.2	P46779		ENST00000344063.2:c.194A>T	19.37:g.55898050A>T	ENSP00000342787:p.Lys65Met					RPL28_ENST00000431533.2_Missense_Mutation_p.K65M|RPL28_ENST00000559463.1_Missense_Mutation_p.K65M|RPL28_ENST00000558752.1_Missense_Mutation_p.K65M|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000560583.1_Missense_Mutation_p.K65M|RPL28_ENST00000560055.1_Missense_Mutation_p.K65M|RPL28_ENST00000458349.2_Missense_Mutation_p.K65M|RPL28_ENST00000428193.2_Missense_Mutation_p.K65M|RPL28_ENST00000558815.1_Missense_Mutation_p.K65M	p.K65M			P46779	RL28_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)	3	823	+	Breast(117;0.191)	Renal(1328;0.245)	65					B2R4A6|B4DEP9|C9JB50|E9PB24|G5E9L2|Q6IAY0|Q96FX1|Q9BWQ0	Missense_Mutation	SNP	ENST00000344063.2	37	c.194A>T	CCDS12924.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.259343	0.80246	.	.	ENSG00000108107	ENST00000344063;ENST00000426763;ENST00000428193;ENST00000431533;ENST00000458349	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	3.21	3.21	0.36854	.	0.000000	0.85682	U	0.000000	T	0.79799	0.4508	M	0.94142	3.5	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.81914	0.992;0.995;0.964;0.983;0.994	D	0.83810	0.0241	10	0.87932	D	0	.	10.1188	0.42607	1.0:0.0:0.0:0.0	.	65;65;65;65;65	B4DEP9;E9PB24;C9JB50;G5E9L2;P46779	.;.;.;.;RL28_HUMAN	M	65	ENSP00000342787:K65M;ENSP00000391665:K65M;ENSP00000400596:K65M;ENSP00000401450:K65M	ENSP00000342787:K65M	K	+	2	0	RPL28	60589862	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.027000	0.70881	1.717000	0.51406	0.459000	0.35465	AAG		0.577	RPL28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416277.2	NM_000991		47	113	0	0	0	1	0	47	113				
HLA-DQB2	3120	broad.mit.edu	37	6	32726774	32726774	+	Missense_Mutation	SNP	C	C	T	rs200716952		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr6:32726774C>T	ENST00000437316.2	-	3	562	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A167T|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.A167T			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	171	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)	p.A167T(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACAACACCGGCTGTCTCCTCC	0.542																																						ENST00000435145.2																			1	Substitution - Missense(1)	p.A167T(1)	kidney(1)	endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(499-501)Gcc>Acc		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32726774C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.499G>A	6.37:g.32726774C>T	ENSP00000396330:p.Ala167Thr					HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.A167T|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A167T	p.A167T			Q5SR06	Q5SR06_HUMAN			3	560	-			167					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.499G>A		.	.	.	.	.	.	.	.	.	.	C	10.03	1.238159	0.22711	.	.	ENSG00000232629	ENST00000437316;ENST00000435145;ENST00000411527	T;T;T	0.02812	4.15;4.15;4.15	3.43	2.56	0.30785	.	0.330401	0.23935	U	0.043113	T	0.00967	0.0032	L	0.33189	0.99	0.23425	N	0.997708	B;B	0.19073	0.001;0.033	B;B	0.26310	0.014;0.068	T	0.47394	-0.9121	10	0.33940	T	0.23	.	8.9215	0.35615	0.0:0.8839:0.0:0.1161	.	167;167	A2ADX3;Q5SR06	.;.	T	167	ENSP00000396330:A167T;ENSP00000410512:A167T;ENSP00000390431:A167T	ENSP00000390431:A167T	A	-	1	0	HLA-DQB2	32834752	0.000000	0.05858	0.869000	0.34112	0.359000	0.29487	0.045000	0.14013	0.784000	0.33661	-0.333000	0.08304	GCC		0.542	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			5	68	0	0	0	1	0	5	68				
TAF5	6877	broad.mit.edu	37	10	105133312	105133312	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr10:105133312T>A	ENST00000369839.3	+	2	780	c.757T>A	c.(757-759)Tac>Aac	p.Y253N	TAF5_ENST00000351396.4_Missense_Mutation_p.Y253N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	253					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGAGCTAGTCTACAATCAACA	0.388																																						ENST00000369839.3																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15						c.(757-759)Tac>Aac		TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa							95.0	88.0	90.0					10																	105133312		2203	4300	6503	SO:0001583	missense	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105133312T>A	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.757T>A	10.37:g.105133312T>A	ENSP00000358854:p.Tyr253Asn					TAF5_ENST00000351396.4_Missense_Mutation_p.Y253N	p.Y253N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	2	780	+		Colorectal(252;0.0747)|Breast(234;0.128)	253					A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	ENST00000369839.3	37	c.757T>A	CCDS7547.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095054	0.76870	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	T;T	0.56275	0.74;0.47	5.14	5.14	0.70334	TFIID subunit, WD40-associated region (1);	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	T	0.73962	-0.3817	10	0.31617	T	0.26	-8.0762	14.9486	0.71054	0.0:0.0:0.0:1.0	.	253;253	Q15542-2;Q15542	.;TAF5_HUMAN	N	253	ENSP00000358854:Y253N;ENSP00000311024:Y253N	ENSP00000311024:Y253N	Y	+	1	0	TAF5	105123302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	1.939000	0.56221	0.459000	0.35465	TAC		0.388	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1			29	54	0	0	0	1	0	29	54				
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G	rs202019968		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	712						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4105-4107)Aat>Gat		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145327548A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4105A>G	1.37:g.145327548A>G	ENSP00000345684:p.Asn1369Asp					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.N1369D	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	32	4140	+	all_hematologic(923;0.032)		1369					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4105A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.181510	0.00308	.	.	ENSG00000163386	ENST00000342960	T	0.03301	3.98	1.5	-0.755	0.11061	.	.	.	.	.	T	0.00210	0.0006	N	0.00179	-1.91	0.09310	N	1	.	.	.	.	.	.	T	0.40608	-0.9554	7	0.02654	T	1	.	5.1791	0.15150	0.6356:0.0:0.3644:0.0	.	.	.	.	D	1369	ENSP00000345684:N1369D	ENSP00000345684:N1369D	N	+	1	0	NBPF10	144038905	0.003000	0.15002	0.004000	0.12327	0.050000	0.14768	-0.536000	0.06135	-0.488000	0.06726	-1.353000	0.01230	AAT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	2	0	0	0	1	0	4	2				
AHNAK2	113146	broad.mit.edu	37	14	105420975	105420975	+	Silent	SNP	C	C	A			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr14:105420975C>A	ENST00000333244.5	-	7	932	c.813G>T	c.(811-813)cgG>cgT	p.R271R	AHNAK2_ENST00000557457.1_5'Flank	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	271						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)			GTCCCGGCCCCCGCTTGCTCT	0.582																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(811-813)cgG>cgT		AHNAK nucleoprotein 2							30.0	33.0	32.0					14																	105420975		1978	4132	6110	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105420975C>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.813G>T	14.37:g.105420975C>A							p.R271R	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	932	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	271					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.813G>T	CCDS45177.1																																																																																				0.582	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	19	1	0	1.12685e-05	1	1.17104e-05	7	19				
BCL11A	53335	broad.mit.edu	37	2	60689483	60689483	+	Silent	SNP	G	G	A	rs201796557		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:60689483G>A	ENST00000335712.6	-	4	791	c.564C>T	c.(562-564)caC>caT	p.H188H	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Silent_p.H36H|BCL11A_ENST00000356842.4_Silent_p.H188H|BCL11A_ENST00000359629.5_Silent_p.H188H|BCL11A_ENST00000538214.1_Silent_p.H154H|BCL11A_ENST00000358510.4_Silent_p.H154H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	188	Required for nuclear body formation and for SUMO1 recruitment. {ECO:0000250}.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)	p.H188H(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGTTCTGTGCGTGTTGCAAGA	0.473			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		3	Substitution - coding silent(3)	p.H188H(3)	breast(3)	NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(562-564)caC>caT		B-cell CLL/lymphoma 11A (zinc finger protein)		G	,,	0,4406		0,0,2203	93.0	94.0	94.0		564,564,564	5.8	1.0	2		94	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	BCL11A	NM_018014.3,NM_022893.3,NM_138559.1	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	188/774,188/836,188/244	60689483	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689483G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.564C>T	2.37:g.60689483G>A						BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.H188H|BCL11A_ENST00000538214.1_Silent_p.H154H|BCL11A_ENST00000359629.5_Silent_p.H188H|BCL11A_ENST00000358510.4_Silent_p.H154H|BCL11A_ENST00000537768.1_Silent_p.H36H	p.H188H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	791	-			188			Required for nuclear body formation and for SUMO1 recruitment (By similarity).		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.564C>T	CCDS1862.1																																																																																				0.473	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		26	62	0	0	0	1	0	26	62				
PADI6	353238	broad.mit.edu	37	1	17720687	17720687	+	RNA	DEL	G	G	-	rs34075690|rs148192373	byFrequency	TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:17720687delG	ENST00000434762.2	+	0	1233							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCCTCTGAGGGGGGAGGGG	0.587													?|GGGGGG|GGGGG|unsure	2948	0.588658	0.5439	0.6398	5008	,	,		18076	0.5258		0.6143	False		,,,				2504	0.6513					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17720687delG	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17720687delG										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1233	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.587	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		9	14						9	14	---	---	---	---
LCE4A	199834	broad.mit.edu	37	1	152681689	152681690	+	In_Frame_Ins	INS	-	-	GGCTGCTGTAGCTCTGGC	rs200223098	byFrequency	TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:152681689_152681690insGGCTGCTGTAGCTCTGGC	ENST00000368777.1	+	2	394_395	c.138_139insGGCTGCTGTAGCTCTGGC	c.(139-141)ggc>GGCTGCTGTAGCTCTGGCggc	p.47_47G>GCCSSGG	LCE4A_ENST00000335535.3_In_Frame_Ins_p.47_47G>GCCSSGG			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	47	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CCAGCTCTGGGGGCTGTGGTTG	0.579																																						ENST00000368777.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10						c.(136-141)gggctg>ggGGCTGCTGTAGCTCTGGCgctg		late cornified envelope 4A																																				SO:0001652	inframe_insertion	199834				keratinization			g.chr1:152681689_152681690insGGCTGCTGTAGCTCTGGC	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	Exception_encountered	1.37:g.152681689_152681690insGGCTGCTGTAGCTCTGGC	Exception_encountered					LCE4A_ENST00000335535.3_In_Frame_Ins_p.46_47GL>GAAVALAL	p.46_47GL>GAAVALAL			Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		2	394_395	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		46			Cys-rich.		Q14D97	In_Frame_Ins	INS	ENST00000368777.1	37	c.138_139insGGCTGCTGTAGCTCTGGC	CCDS1022.1																																																																																				0.579	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		8	203						8	203	---	---	---	---
IKZF2	22807	broad.mit.edu	37	2	214012404	214012405	+	Intron	DEL	AA	AA	-	rs550073377|rs6738070|rs547307585|rs112988286	byFrequency	TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:214012404_214012405delAA	ENST00000434687.1	-	4	449				IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000442445.1_Frame_Shift_Del_p.L62fs			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ACACACACACAAAAAAAAATCA	0.411																																						ENST00000442445.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-186)gfs		IKAROS family zinc finger 2 (Helios)																																				SO:0001627	intron_variant	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:214012404_214012405delAA	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.139+26TT>-	2.37:g.214012410_214012411delAA						IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Intron	p.L62fs			Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	3	241_242	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	0					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Frame_Shift_Del	DEL	ENST00000434687.1	37	c.184_185delTT	CCDS2395.1																																																																																				0.411	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		19	125						19	125	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-162)gcccgc>gcGCCccgc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup					KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR	p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1177_1178	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	53			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		12	9						12	9	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140574170	140574175	+	In_Frame_Del	DEL	AGGCCG	AGGCCG	-	rs58244182|rs140613424|rs140393827	byFrequency	TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr5:140574170_140574175delAGGCCG	ENST00000239446.4	+	1	2229_2234	c.2045_2050delAGGCCG	c.(2044-2052)caggccgag>cag	p.AE683del		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	683					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCCAGGCCCAGGCCGAGGCCGACTT	0.704														2124	0.424121	0.4372	0.4971	5008	,	,		11585	0.5347		0.3658	False		,,,				2504	0.3006					ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(2044-2052)cag>c						851,2755		246,359,1198						2.2	0.0		dbSNP_129	38	1442,5672		362,718,2477	no	coding	PCDHB10	NM_018930.3		608,1077,3675	A1A1,A1R,RR		20.2699,23.5996,21.3899				2293,8427				SO:0001651	inframe_deletion	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574170_140574175delAGGCCG	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2045_2050delAGGCCG	5.37:g.140574176_140574181delAGGCCG	ENSP00000239446:p.Ala683_Glu684del						p.QAE682del	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2229_2234	+			682					Q96T99	In_Frame_Del	DEL	ENST00000239446.4	37	c.2045_2050delAGGCCG	CCDS4252.1																																																																																				0.704	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		17	145						17	145	---	---	---	---
TRBV6-5	28602	broad.mit.edu	37	7	142180819	142180821	+	RNA	DEL	AGG	AGG	-	rs369065333|rs146925843|rs377067235		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr7:142180819_142180821delAGG	ENST00000390368.2	-	0	115									T cell receptor beta variable 6-5																		CCTGCAGAGAAGGAGAACAAAGC	0.557																																						ENST00000390368.2																			0																																																			0							g.chr7:142180819_142180821delAGG	L36092		7q34	2012-02-07			ENSG00000211721	ENSG00000211721		"""T cell receptors / TRB locus"""	12230	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV65, TCRBV13S1, TCRBV6S5			OTTHUMG00000158519		7.37:g.142180819_142180821delAGG														0	115	-									RNA	DEL	ENST00000390368.2	37																																																																																						0.557	TRBV6-5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351225.1	NG_001333		12	135						12	135	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3019-3021)ccafs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs	p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3173_3174	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3019_3020insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		9	198						9	198	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124824721	124824722	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs61519723|rs112797765|rs143952466	byFrequency	TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr12:124824721_124824722insGCCGCTGCT	ENST00000405201.1	-	37	5517_5518	c.5517_5518insAGCAGCGGC	c.(5515-5520)ggcggg>ggcAGCAGCGGCggg	p.1838_1839insGSS	NCOR2_ENST00000404621.1_In_Frame_Ins_p.1828_1829insGSS|NCOR2_ENST00000397355.1_In_Frame_Ins_p.1829_1830insGSS|NCOR2_ENST00000429285.2_In_Frame_Ins_p.1828_1829insGSS|NCOR2_ENST00000356219.3_In_Frame_Ins_p.1845_1846insGSS|NCOR2_ENST00000404121.2_In_Frame_Ins_p.1399_1400insGSS			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1849					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		cccccacccccgccgctgctgc	0.713														4762	0.950879	0.8979	0.9496	5008	,	,		14227	0.9633		0.9672	False		,,,				2504	0.9939					ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5536-5541)gggggg>ggAGCAGCGGCgggg		nuclear receptor corepressor 2																																				SO:0001652	inframe_insertion	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124824721_124824722insGCCGCTGCT	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5509_5517dupAGCAGCGGC	12.37:g.124824722_124824730dupGCCGCTGCT	ENSP00000384018:p.Gly1836_Ser1838dup					NCOR2_ENST00000405201.1_In_Frame_Ins_p.1839_1840GG>GAAAG|NCOR2_ENST00000404621.1_In_Frame_Ins_p.1829_1830GG>GAAAG|NCOR2_ENST00000397355.1_In_Frame_Ins_p.1830_1831GG>GAAAG|NCOR2_ENST00000404121.2_In_Frame_Ins_p.1400_1401GG>GAAAG|NCOR2_ENST00000429285.2_In_Frame_Ins_p.1829_1830GG>GAAAG	p.1846_1847GG>GAAAG	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	38	5693_5694	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		1850					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	In_Frame_Ins	INS	ENST00000405201.1	37	c.5538_5539insAGCAGCGGC	CCDS41858.2																																																																																				0.713	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		10	36						10	36	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			2	4						2	4	---	---	---	---
ULK4P3	89837	broad.mit.edu	37	15	30406088	30406089	+	RNA	INS	-	-	T	rs372975149		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr15:30406088_30406089insT	ENST00000568486.1	+	0	402				U8_ENST00000384701.1_RNA	NR_026859.1				ULK4 pseudogene 3																		TGCCTCAAAAGTTTTTTTTTTT	0.297																																						ENST00000568486.1																			0																																																			0							g.chr15:30406088_30406089insT	BC023564		15q13.2	2014-03-20	2013-09-12	2011-11-25	ENSG00000178081	ENSG00000178081			15777	pseudogene	pseudogene			"""family with sequence similarity 7, member A3"", ""unc-51-like kinase 4 (C. elegans) pseudogene 3"""	FAM7A3		11829490	Standard	NR_026859		Approved	D-X	uc001zdk.3		OTTHUMG00000175637		15.37:g.30406099_30406099dupT								NR_026859.1						0	402	+									RNA	INS	ENST00000568486.1	37																																																																																						0.297	ULK4P3-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000430688.1			8	39						8	39	---	---	---	---
PEX12	5193	broad.mit.edu	37	17	33903106	33903107	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr17:33903106_33903107insC	ENST00000225873.4	-	3	1381_1382	c.774_775insG	c.(772-777)ttgcagfs	p.Q259fs	RP11-1094M14.11_ENST00000592381.1_lincRNA|SNORD7_ENST00000384567.1_RNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	259					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCAAGGAACTGCAAGAAGAATA	0.465																																						ENST00000225873.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(772-777)ttagttfs		peroxisomal biogenesis factor 12																																				SO:0001589	frameshift_variant	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33903106_33903107insC	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.775dupG	17.37:g.33903107_33903107dupC	ENSP00000225873:p.Gln259fs						p.V259fs	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	1381_1382	-			259					B2R6M2	Frame_Shift_Ins	INS	ENST00000225873.4	37	c.774_775insG	CCDS11296.1																																																																																				0.465	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		56	92						56	92	---	---	---	---
FEM1A	55527	broad.mit.edu	37	19	4791992	4791992	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr19:4791992delA	ENST00000269856.3	+	1	265	c.126delA	c.(124-126)ggafs	p.G42fs	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	42					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCGGCGGGGGAACGCCGCTAC	0.721																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(124-126)ggfs		fem-1 homolog a (C. elegans)							3.0	3.0	3.0					19																	4791992		1824	3682	5506	SO:0001589	frameshift_variant	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4791992delA	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.126delA	19.37:g.4791992delA	ENSP00000269856:p.Gly42fs					AC005523.2_ENST00000601192.1_RNA	p.G42fs	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	265	+		Hepatocellular(1079;0.137)	42					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Frame_Shift_Del	DEL	ENST00000269856.3	37	c.126delA	CCDS12135.1																																																																																				0.721	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			2	4						2	4	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_ENST00000430817.1_In_Frame_Del_p.L8del|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.L8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(22-27)ccc>c		sialic acid binding Ig-like lectin 8																																				SO:0001651	inframe_deletion	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961617_51961619delGCA	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.23_25delTGC	19.37:g.51961626_51961628delGCA	ENSP00000321077:p.Leu8del					SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del	p.LP8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	89_91	-		all_neural(266;0.0199)	8					Q7Z728	In_Frame_Del	DEL	ENST00000321424.3	37	c.23_25delTGC	CCDS33086.1																																																																																				0.596	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		7	145						7	145	---	---	---	---
KRTAP10-7	386675	broad.mit.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																						ENST00000380102.2																			1	Deletion - In frame(1)	p.S50_P54delSCCAP(1)	upper_aerodigestive_tract(1)	breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(133-150)ccc>cc		keratin associated protein 10-7			,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				SO:0001651	inframe_deletion	386675					keratin filament		g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del					TSPEAR_ENST00000323084.4_Intron	p.PCCAPS45del	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN			1	160_174	+			45			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	In_Frame_Del	DEL	ENST00000380102.2	37	c.135_149delCTGCTGCGCCCCCAG																																																																																					0.698	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689		14	24						14	24	---	---	---	---
