#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
GIGYF2	26058	broad.mit.edu	37	2	233721515	233721515	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr2:233721515A>G	ENST00000409547.1	+	31	4156	c.3845A>G	c.(3844-3846)aAt>aGt	p.N1282S	GIGYF2_ENST00000409480.1_Missense_Mutation_p.N1304S|GIGYF2_ENST00000409451.3_Missense_Mutation_p.N1303S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.N1282S|GIGYF2_ENST00000373566.3_Missense_Mutation_p.N1304S|GIGYF2_ENST00000409196.3_Missense_Mutation_p.N1276S	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1282					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTTCAGTCAATGCATCATCG	0.512																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(3910-3912)aAt>aGt		GRB10 interacting GYF protein 2							163.0	152.0	155.0					2																	233721515		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233721515A>G	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.3845A>G	2.37:g.233721515A>G	ENSP00000386537:p.Asn1282Ser					GIGYF2_ENST00000409451.3_Missense_Mutation_p.N1303S|GIGYF2_ENST00000409196.3_Missense_Mutation_p.N1276S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.N1282S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.N1304S|GIGYF2_ENST00000409547.1_Missense_Mutation_p.N1282S	p.N1304S			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	30	4108	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	1282					A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.3911A>G	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921484	0.73213	.	.	ENSG00000204120	ENST00000373566;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000409196;ENST00000409451	T;T;T;T;T;T	0.73681	-0.76;-0.77;-0.76;-0.77;-0.76;-0.76	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	L	0.51422	1.61	0.80722	D	1	P;P;P	0.51057	0.941;0.941;0.941	B;B;B	0.41271	0.352;0.265;0.265	T	0.66917	-0.5802	10	0.23891	T	0.37	-13.0704	14.4071	0.67090	1.0:0.0:0.0:0.0	.	1303;1282;1276	A6H8W4;Q6Y7W6;E9PBB0	.;PERQ2_HUMAN;.	S	1304;1282;1304;1282;1276;1303	ENSP00000362667:N1304S;ENSP00000362664:N1282S;ENSP00000386765:N1304S;ENSP00000386537:N1282S;ENSP00000387070:N1276S;ENSP00000387170:N1303S	ENSP00000362664:N1282S	N	+	2	0	GIGYF2	233429759	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.359000	0.90093	1.788000	0.52465	0.477000	0.44152	AAT		0.512	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		13	78	0	0	0	1	0	13	78				
MGAM	8972	broad.mit.edu	37	7	141766505	141766505	+	Intron	SNP	C	C	T	rs373158040		TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr7:141766505C>T	ENST00000549489.2	+	38	4713				MGAM_ENST00000475668.2_Missense_Mutation_p.R1635W	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.483																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4903-4905)Cgg>Tgg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	C		0,1750		0,0,875	264.0	208.0	226.0			3.0	0.8	7		226	1,3897		0,1,1948	no	intron	MGAM	NM_004668.2		0,1,2823	TT,TC,CC		0.0257,0.0,0.0177			141766505	1,5647	875	1949	2824	SO:0001627	intron_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141766505C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4618+1237C>T	7.37:g.141766505C>T						MGAM_ENST00000549489.2_Intron	p.R1635W			O43451	MGA_HUMAN			41	4957	+	Melanoma(164;0.0272)		1635			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.4903C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	9.485	1.099228	0.20552	0.0	2.57E-4	ENSG00000257335	ENST00000475668;ENST00000548812	.	.	.	3.97	3.05	0.35203	.	.	.	.	.	T	0.67306	0.2879	.	.	.	0.37454	D	0.914923	.	.	.	.	.	.	T	0.73107	-0.4087	5	0.87932	D	0	.	11.5007	0.50435	0.1816:0.8183:0.0:0.0	.	.	.	.	W	1635;1512	.	ENSP00000316431:R1512W	R	+	1	2	MGAM	141412974	1.000000	0.71417	0.753000	0.31225	0.045000	0.14185	4.722000	0.61958	0.609000	0.30018	0.306000	0.20318	CGG		0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			4	144	0	0	0	1	0	4	144				
VCP	7415	broad.mit.edu	37	9	35057381	35057381	+	Silent	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr9:35057381G>A	ENST00000358901.6	-	16	3202	c.2307C>T	c.(2305-2307)ggC>ggT	p.G769G		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	769					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACCTGAAGCTGCCAAAGCCCC	0.507																																						ENST00000358901.6																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(2305-2307)ggC>ggT		valosin containing protein							244.0	261.0	255.0					9																	35057381		2203	4300	6503	SO:0001819	synonymous_variant	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35057381G>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.2307C>T	9.37:g.35057381G>A							p.G769G	NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		16	3202	-			769					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	c.2307C>T	CCDS6573.1																																																																																				0.507	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		5	384	0	0	0	1	0	5	384				
EIF3K	27335	broad.mit.edu	37	19	39127527	39127527	+	Splice_Site	SNP	A	A	C			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr19:39127527A>C	ENST00000593149.1	+	8	695		c.e8-1		EIF3K_ENST00000588934.1_Splice_Site|EIF3K_ENST00000592558.1_Splice_Site|EIF3K_ENST00000248342.4_Splice_Site					eukaryotic translation initiation factor 3, subunit K										EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTCCCCACAGGTGTGTCCA	0.532																																						ENST00000248342.4																		EIF3K/CYP39A1(2)	0				central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8						c.e8-1		eukaryotic translation initiation factor 3, subunit K							208.0	176.0	187.0					19																	39127527		2203	4300	6503	SO:0001630	splice_region_variant	27335				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity	g.chr19:39127527A>C	AB019392	CCDS12517.1, CCDS74360.1	19q13.2	2012-05-28	2007-07-27	2007-07-27	ENSG00000178982	ENSG00000178982			24656	protein-coding gene	gene with protein product		609596	"""eukaryotic translation initiation factor 3, subunit 12"""	EIF3S12		11042152, 14519125	Standard	XM_006723147		Approved	eIF3k, PRO1474, HSPC029, PTD001, PLAC-24, M9, ARG134	uc002oiz.1	Q9UBQ5		ENST00000593149.1:c.365-1A>C	19.37:g.39127527A>C						EIF3K_ENST00000593149.1_Splice_Site|EIF3K_ENST00000588934.1_Splice_Site|EIF3K_ENST00000592558.1_Splice_Site		NM_013234.2	NP_037366.1	Q9UBQ5	EIF3K_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		8	797	+	all_cancers(60;6.42e-06)|Ovarian(47;0.103)								Splice_Site	SNP	ENST00000593149.1	37			.	.	.	.	.	.	.	.	.	.	A	20.2	3.957901	0.73902	.	.	ENSG00000178982	ENST00000248342	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4036	0.60898	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3K	43819367	1.000000	0.71417	0.998000	0.56505	0.843000	0.47879	7.271000	0.78506	2.005000	0.58758	0.528000	0.53228	.		0.532	EIF3K-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000453405.1	NM_013234	Intron	6	108	0	0	0	1	0	6	108				
DMBT1	1755	broad.mit.edu	37	10	124392750	124392750	+	Missense_Mutation	SNP	C	C	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr10:124392750C>A	ENST00000338354.3	+	49	6160	c.6054C>A	c.(6052-6054)gaC>gaA	p.D2018E	DMBT1_ENST00000368909.3_Missense_Mutation_p.D2018E|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2008E|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1390E|DMBT1_ENST00000359586.6_Missense_Mutation_p.D738E|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2008E|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1390E			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2018	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CATCAGGGGACTTTTCCAGCC	0.507																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6052-6054)gaC>gaA		deleted in malignant brain tumors 1							141.0	137.0	138.0					10																	124392750		1893	4120	6013	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124392750C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6054C>A	10.37:g.124392750C>A	ENSP00000342210:p.Asp2018Glu					DMBT1_ENST00000330163.4_Missense_Mutation_p.D1390E|DMBT1_ENST00000338354.3_Missense_Mutation_p.D2018E|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2008E|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1390E|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2008E|DMBT1_ENST00000359586.6_Missense_Mutation_p.D738E	p.D2018E	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN			49	6160	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2018			CUB 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6054C>A		.	.	.	.	.	.	.	.	.	.	C	8.875	0.950121	0.18431	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.28	-2.15	0.07102	CUB (5);	.	.	.	.	T	0.04003	0.0112	N	0.00602	-1.34	0.09310	N	1	B;B;B;P;B;B;B	0.39696	0.001;0.0;0.001;0.683;0.001;0.001;0.001	B;B;B;B;B;B;B	0.31495	0.002;0.001;0.002;0.131;0.002;0.002;0.003	T	0.21075	-1.0256	9	0.02654	T	1	.	4.3035	0.10935	0.2302:0.3181:0.3738:0.0779	.	738;1998;1267;2147;1390;2008;2018	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	E	2018;2147;2018;2018;2018;2017;1390;2008;1390;1390;2018;2008;1390;164;738	ENSP00000342210:D2018E;ENSP00000343175:D2008E;ENSP00000327747:D1390E;ENSP00000357905:D2018E;ENSP00000357951:D2008E;ENSP00000357952:D1390E;ENSP00000352593:D738E	ENSP00000331522:D1390E	D	+	3	2	DMBT1	124382740	0.000000	0.05858	0.071000	0.20095	0.098000	0.18820	-1.879000	0.01629	-0.071000	0.12886	-0.300000	0.09419	GAC		0.507	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		39	54	1	0	3.61848e-18	1	3.71899e-18	39	54				
CSTF1	1477	broad.mit.edu	37	20	54972305	54972305	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr20:54972305G>T	ENST00000217109.4	+	3	564	c.212G>T	c.(211-213)cGt>cTt	p.R71L	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	71					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GCAATTGGTCGTTCAGATACT	0.428																																						ENST00000217109.4																			0				central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15						c.(211-213)cGt>cTt		cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa							144.0	136.0	139.0					20																	54972305		2203	4300	6503	SO:0001583	missense	1477				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr20:54972305G>T		CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.212G>T	20.37:g.54972305G>T	ENSP00000217109:p.Arg71Leu					CSTF1_ENST00000493039.1_3'UTR	p.R71L	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	Colorectal(105;0.202)		3	564	+			71					Q5QPD8	Missense_Mutation	SNP	ENST00000217109.4	37	c.212G>T	CCDS13452.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692933	0.68271	.	.	ENSG00000101138	ENST00000415828;ENST00000217109;ENST00000428552;ENST00000425890;ENST00000452950	T;T;T	0.57273	0.41;0.43;0.41	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.45013	0.1321	L	0.29908	0.895	0.80722	D	1	B	0.22414	0.069	B	0.12837	0.008	T	0.18429	-1.0337	10	0.28530	T	0.3	1.8631	20.6208	0.99490	0.0:0.0:1.0:0.0	.	71	Q05048	CSTF1_HUMAN	L	71;71;71;58;71	ENSP00000387968:R71L;ENSP00000217109:R71L;ENSP00000409035:R71L	ENSP00000217109:R71L	R	+	2	0	CSTF1	54405712	1.000000	0.71417	0.974000	0.42286	0.995000	0.86356	9.624000	0.98398	2.882000	0.98803	0.655000	0.94253	CGT		0.428	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079794.2	NM_001033521		12	177	1	0	1.08611e-07	1	1.08611e-07	12	177				
PADI3	51702	broad.mit.edu	37	1	17575683	17575683	+	Silent	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr1:17575683G>A	ENST00000375460.3	+	1	91	c.51G>A	c.(49-51)gcG>gcA	p.A17A		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	17					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		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;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCACCAGCGCGGTGTGTGTGG	0.607																																						ENST00000375460.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(49-51)gcG>gcA		peptidyl arginine deiminase, type III	L-Citrulline(DB00155)						159.0	136.0	144.0					1																	17575683		2203	4300	6503	SO:0001819	synonymous_variant	51702				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17575683G>A	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.51G>A	1.37:g.17575683G>A							p.A17A	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	1	91	+		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)	17					Q58EY7|Q70SX5	Silent	SNP	ENST00000375460.3	37	c.51G>A	CCDS179.1																																																																																				0.607	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006805.1			3	45	0	0	0	1	0	3	45				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																197331							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	130	0	0	0	1	0	5	130				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	115	0	0	0	1	0	5	115				
C10orf90	118611	broad.mit.edu	37	10	128118419	128118419	+	Splice_Site	SNP	T	T	C			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr10:128118419T>C	ENST00000284694.7	-	7	2018	c.1898A>G	c.(1897-1899)gAt>gGt	p.D633G	C10orf90_ENST00000356858.3_Splice_Site_p.D586G|C10orf90_ENST00000480379.1_Splice_Site_p.D37G|C10orf90_ENST00000454341.1_Splice_Site_p.D536G|C10orf90_ENST00000544758.1_Splice_Site_p.D730G	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	633	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		GAACAAGTTATCTGGAAAAAA	0.358																																						ENST00000284694.7																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.e7-1		chromosome 10 open reading frame 90							133.0	125.0	128.0					10																	128118419		2203	4300	6503	SO:0001630	splice_region_variant	118611							g.chr10:128118419T>C	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1898-1A>G	10.37:g.128118419T>C						C10orf90_ENST00000454341.1_Splice_Site_p.D536_splice|C10orf90_ENST00000544758.1_Splice_Site_p.D730_splice|C10orf90_ENST00000356858.3_Splice_Site_p.D586_splice|C10orf90_ENST00000480379.1_Splice_Site_p.D37_splice	p.D633_splice	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	7	2018	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	633					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Splice_Site	SNP	ENST00000284694.7	37	c.1897_splice	CCDS31310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.37|13.37	2.218043|2.218043	0.39201|0.39201	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642|ENST00000424927	T;T;T;T|.	0.20332|.	2.11;2.15;2.12;2.08|.	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	0.136558|.	0.33691|.	N|.	0.004647|.	T|T	0.58148|0.58148	0.2102|0.2102	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	B;B;P|.	0.36110|.	0.193;0.106;0.537|.	B;B;B|.	0.38500|.	0.08;0.045;0.275|.	T|T	0.55891|0.55891	-0.8069|-0.8069	10|5	0.56958|.	D|.	0.05|.	.|.	12.3833|12.3833	0.55320|0.55320	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	730;633;536|.	F5GZL2;Q96M02;Q96M02-2|.	.;CJ090_HUMAN;.|.	G|V	586;633;536;730;633|176	ENSP00000284694:D633G;ENSP00000398786:D536G;ENSP00000444369:D730G;ENSP00000405995:D633G|.	ENSP00000284694:D633G|.	D|I	-|-	2|1	0|0	C10orf90|C10orf90	128108409|128108409	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	5.722000|5.722000	0.68485|0.68485	1.928000|1.928000	0.55862|0.55862	0.533000|0.533000	0.62120|0.62120	GAT|ATA		0.358	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298	Missense_Mutation	10	71	0	0	0	1	0	10	71				
CDKL5	6792	broad.mit.edu	37	X	18616728	18616728	+	Silent	SNP	T	T	C			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chrX:18616728T>C	ENST00000379989.3	+	12	1257	c.972T>C	c.(970-972)tcT>tcC	p.S324S	CDKL5_ENST00000379996.3_Silent_p.S324S	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	324					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GCACATTGTCTAATAGGTAAA	0.398																																						ENST00000379989.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44						c.(970-972)tcT>tcC		cyclin-dependent kinase-like 5							88.0	78.0	81.0					X																	18616728		2203	4300	6503	SO:0001819	synonymous_variant	6792				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	g.chrX:18616728T>C	Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.972T>C	X.37:g.18616728T>C						CDKL5_ENST00000379996.3_Silent_p.S324S	p.S324S	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN			12	1257	+	Hepatocellular(33;0.183)		324					G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Silent	SNP	ENST00000379989.3	37	c.972T>C	CCDS14186.1																																																																																				0.398	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159		10	84	0	0	0	1	0	10	84				
SPECC1	92521	broad.mit.edu	37	17	20224797	20224797	+	IGR	SNP	C	C	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr17:20224797C>T	ENST00000395530.2	+	0	8133				U6_ENST00000517027.1_RNA|CCDC144CP_ENST00000340196.4_RNA|AC004702.2_ENST00000580225.1_lincRNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGTGGAAAAACAGCGTCGGCA	0.637																																						ENST00000580225.1																			0																																																	SO:0001628	intergenic_variant	348254							g.chr17:20224797C>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808		17.37:g.20224797C>T						CCDC144CP_ENST00000340196.4_RNA								0	105	+								B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	RNA	SNP	ENST00000395530.2	37		CCDS42281.1																																																																																				0.637	SPECC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132368.3	NM_152904		5	129	0	0	0	1	0	5	129				
PFKM	5213	broad.mit.edu	37	12	48529135	48529135	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr12:48529135G>A	ENST00000312352.7	+	10	944	c.905G>A	c.(904-906)gGt>gAt	p.G302D	PFKM_ENST00000340802.6_Missense_Mutation_p.G373D|PFKM_ENST00000359794.5_Missense_Mutation_p.G302D|PFKM_ENST00000547587.1_Missense_Mutation_p.G302D|PFKM_ENST00000551804.1_Intron|PFKM_ENST00000395233.2_Intron	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	302	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GTGCAGAGGGGTGGGACGCCA	0.572																																						ENST00000340802.6																			0				NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1117-1119)gGt>gAt		phosphofructokinase, muscle							133.0	109.0	117.0					12																	48529135		2203	4300	6503	SO:0001583	missense	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48529135G>A	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.905G>A	12.37:g.48529135G>A	ENSP00000309438:p.Gly302Asp					PFKM_ENST00000551804.1_Intron|PFKM_ENST00000312352.7_Missense_Mutation_p.G302D|PFKM_ENST00000547587.1_Missense_Mutation_p.G302D|PFKM_ENST00000395233.2_Intron|PFKM_ENST00000359794.5_Missense_Mutation_p.G302D	p.G373D	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN			12	1342	+			302					J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	ENST00000312352.7	37	c.1118G>A	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261267	0.95368	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000547587;ENST00000312352	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.05	5.05	0.67936	Phosphofructokinase domain (2);Phosphofructokinase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97564	0.9202	H	0.99922	4.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.99016	1.0816	10	0.87932	D	0	-13.2891	17.7333	0.88384	0.0:0.0:1.0:0.0	.	302;373	P08237;Q6ZTT1	K6PF_HUMAN;.	D	373;302;302;302	ENSP00000345771:G373D;ENSP00000352842:G302D;ENSP00000449426:G302D;ENSP00000309438:G302D	ENSP00000309438:G302D	G	+	2	0	PFKM	46815402	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.657000	0.98554	2.793000	0.96121	0.655000	0.94253	GGT		0.572	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		10	50	0	0	0	1	0	10	50				
PTBP1	5725	broad.mit.edu	37	19	804908	804908	+	Missense_Mutation	SNP	C	C	T	rs201221864		TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr19:804908C>T	ENST00000349038.4	+	7	759	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PTBP1_ENST00000356948.6_Missense_Mutation_p.A229V|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	229	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCAGTATGCGGACCCCGTG	0.662																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(685-687)gCg>gTg		polypyrimidine tract binding protein 1		C	VAL/ALA,VAL/ALA,VAL/ALA,	1,4405	2.1+/-5.4	0,1,2202	82.0	77.0	79.0		686,686,686,	3.1	0.0	19		79	0,8600		0,0,4300	yes	missense,missense,missense,intron	PTBP1	NM_002819.4,NM_031990.3,NM_031991.3,NM_175847.2	64,64,64,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,	229/558,229/551,229/532,	804908	1,13005	2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:804908C>T	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.686C>T	19.37:g.804908C>T	ENSP00000014112:p.Ala229Val					PTBP1_ENST00000349038.4_Missense_Mutation_p.A229V|PTBP1_ENST00000394601.4_Missense_Mutation_p.A229V|PTBP1_ENST00000350092.4_Intron	p.A229V	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1109	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	229			RRM 2.		Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.686C>T	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.465840	0.26335	2.27E-4	0.0	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.47528	0.84;0.84;1.13	5.22	3.11	0.35812	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.312976	0.33753	N	0.004595	T	0.43211	0.1237	M	0.70842	2.15	0.25834	N	0.984139	B;B;B	0.21905	0.062;0.01;0.012	B;B;B	0.17098	0.017;0.01;0.017	T	0.44636	-0.9315	10	0.62326	D	0.03	-38.0913	6.3887	0.21576	0.0:0.6883:0.1504:0.1613	.	229;229;229	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	V	229	ENSP00000349428:A229V;ENSP00000408096:A229V;ENSP00000014112:A229V	ENSP00000014112:A229V	A	+	2	0	PTBP1	755908	0.998000	0.40836	0.003000	0.11579	0.273000	0.26683	3.875000	0.56108	0.601000	0.29879	-0.136000	0.14681	GCG		0.662	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			4	162	0	0	0	1	0	4	162				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	70	0	0	0	1	0	4	70				
CGNL1	84952	broad.mit.edu	37	15	57730597	57730597	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr15:57730597G>A	ENST00000281282.5	+	2	478	c.400G>A	c.(400-402)Gac>Aac	p.D134N		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	134	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGATCGCAAAGACGGGTCTGT	0.473																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(400-402)Gac>Aac		cingulin-like 1							54.0	54.0	54.0					15																	57730597		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57730597G>A	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.400G>A	15.37:g.57730597G>A	ENSP00000281282:p.Asp134Asn						p.D134N	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	478	+			134			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.400G>A	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727583	0.48833	.	.	ENSG00000128849	ENST00000281282	T	0.06933	3.24	4.63	4.63	0.57726	.	0.151331	0.30277	N	0.009983	T	0.09992	0.0245	L	0.40543	1.245	0.38027	D	0.935044	B	0.27559	0.181	B	0.24155	0.051	T	0.12553	-1.0543	10	0.72032	D	0.01	-5.7126	17.6896	0.88266	0.0:0.0:1.0:0.0	.	134	Q0VF96	CGNL1_HUMAN	N	134	ENSP00000281282:D134N	ENSP00000281282:D134N	D	+	1	0	CGNL1	55517889	1.000000	0.71417	0.072000	0.20136	0.506000	0.33950	5.694000	0.68272	2.401000	0.81631	0.650000	0.86243	GAC		0.473	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		4	63	0	0	0	1	0	4	63				
TOX	9760	broad.mit.edu	37	8	59720342	59720342	+	Splice_Site	SNP	C	C	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr8:59720342C>T	ENST00000361421.1	-	9	1765	c.1545G>A	c.(1543-1545)ggG>ggA	p.G515G		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	515						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TCTGCATGCCCCTGTAGGAAG	0.448											OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.e9-1		thymocyte selection-associated high mobility group box							120.0	112.0	115.0					8																	59720342		2203	4300	6503	SO:0001630	splice_region_variant	9760					nucleus	DNA binding	g.chr8:59720342C>T		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1545-1G>A	8.37:g.59720342C>T			OREG0018787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1040		p.G515_splice	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			9	1765	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	515					Q96AV5	Splice_Site	SNP	ENST00000361421.1	37	c.1544_splice	CCDS34897.1																																																																																				0.448	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729	Silent	6	39	0	0	0	1	0	6	39				
ITIH3	3699	broad.mit.edu	37	3	52840340	52840340	+	Silent	SNP	T	T	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr3:52840340T>A	ENST00000449956.2	+	18	1980	c.1974T>A	c.(1972-1974)atT>atA	p.I658I	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	658					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TCATCCAAATTCCGGAGAAAG	0.572																																						ENST00000449956.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25						c.(1972-1974)atT>atA		inter-alpha-trypsin inhibitor heavy chain 3							55.0	57.0	56.0					3																	52840340		2031	4192	6223	SO:0001819	synonymous_variant	3699				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52840340T>A		CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.1974T>A	3.37:g.52840340T>A						ITIH3_ENST00000416872.2_Intron	p.I658I	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	18	1980	+			658					Q3B7H5|Q53F06|Q6LAM2|Q99085	Silent	SNP	ENST00000449956.2	37	c.1974T>A	CCDS46845.1	.	.	.	.	.	.	.	.	.	.	T	5.669	0.307984	0.10733	.	.	ENSG00000162267	ENST00000398670;ENST00000536431	.	.	.	5.38	-6.2	0.02072	.	.	.	.	.	T	0.40094	0.1103	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37361	-0.9709	5	0.15066	T	0.55	-11.3148	7.613	0.28142	0.0:0.2827:0.2576:0.4597	.	.	.	.	T	659;647	.	ENSP00000381662:S659T	S	+	1	0	ITIH3	52815380	0.030000	0.19436	0.044000	0.18714	0.438000	0.31896	-1.200000	0.03029	-0.670000	0.05282	0.459000	0.35465	TCC		0.572	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352668.2	NM_002217		4	44	0	0	0	1	0	4	44				
MORC3	23515	broad.mit.edu	37	21	37716913	37716913	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr21:37716913C>G	ENST00000400485.1	+	7	869	c.793C>G	c.(793-795)Cag>Gag	p.Q265E	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	265					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GCCAAGAATGCAGATCATCCT	0.373																																						ENST00000400485.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(793-795)Cag>Gag		MORC family CW-type zinc finger 3							141.0	134.0	137.0					21																	37716913		1904	4128	6032	SO:0001583	missense	23515				cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	g.chr21:37716913C>G	AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.793C>G	21.37:g.37716913C>G	ENSP00000383333:p.Gln265Glu					MORC3_ENST00000487909.1_3'UTR	p.Q265E	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN			7	869	+			265					A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	c.793C>G	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097662	0.94197	.	.	ENSG00000159256	ENST00000400485	T	0.72942	-0.7	5.49	5.49	0.81192	ATPase-like, ATP-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.72028	0.3410	M	0.66297	2.02	0.80722	D	1	P	0.38250	0.624	B	0.38378	0.272	T	0.72191	-0.4365	10	0.38643	T	0.18	-12.025	19.377	0.94514	0.0:1.0:0.0:0.0	.	265	Q14149	MORC3_HUMAN	E	265	ENSP00000383333:Q265E	ENSP00000383333:Q265E	Q	+	1	0	MORC3	36638783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.726000	0.84824	2.582000	0.87167	0.655000	0.94253	CAG		0.373	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358		7	60	0	0	0	1	0	7	60				
TSGA13	114960	broad.mit.edu	37	7	130356501	130356501	+	Splice_Site	SNP	C	C	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr7:130356501C>T	ENST00000456951.1	-	8	1509	c.658G>A	c.(658-660)Gct>Act	p.A220T	TSGA13_ENST00000356588.3_Splice_Site_p.A220T|COPG2_ENST00000445977.2_5'Flank			Q96PP4	TSG13_HUMAN	testis specific, 13	220										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					AGGAGCTTACCATCTTTCCTC	0.448																																						ENST00000456951.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.e8+1		testis specific, 13							242.0	234.0	237.0					7																	130356501		2203	4300	6503	SO:0001630	splice_region_variant	114960							g.chr7:130356501C>T	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.658+1G>A	7.37:g.130356501C>T						TSGA13_ENST00000356588.3_Splice_Site_p.A220_splice	p.A220_splice			Q96PP4	TSG13_HUMAN			8	1509	-	Melanoma(18;0.0435)		220					B3KSC9	Splice_Site	SNP	ENST00000456951.1	37	c.658_splice	CCDS5824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.97|15.97	2.988498|2.988498	0.53934|0.53934	.|.	.|.	ENSG00000213265|ENSG00000213265	ENST00000456951;ENST00000356588|ENST00000418126	.|.	.|.	.|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	1.028930|.	0.07771|.	N|.	0.951668|.	T|T	0.33118|0.33118	0.0852|0.0852	N|N	0.14661|0.14661	0.345|0.345	0.29755|0.29755	N|N	0.835988|0.835988	P|.	0.40731|.	0.728|.	B|.	0.36186|.	0.219|.	T|T	0.22173|0.22173	-1.0224|-1.0224	8|5	.|.	.|.	.|.	-0.3903|-0.3903	15.0593|15.0593	0.71939|0.71939	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	220|.	Q96PP4|.	TSG13_HUMAN|.	T|I	220|220	.|.	.|.	A|V	-|-	1|1	0|0	TSGA13|TSGA13	130007041|130007041	0.966000|0.966000	0.33281|0.33281	0.960000|0.960000	0.40013|0.40013	0.055000|0.055000	0.15305|0.15305	3.287000|3.287000	0.51732|0.51732	2.622000|2.622000	0.88805|0.88805	0.555000|0.555000	0.69702|0.69702	GCT|GTC		0.448	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933	Missense_Mutation	8	222	0	0	0	1	0	8	222				
GGT7	2686	broad.mit.edu	37	20	33449307	33449307	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr20:33449307G>A	ENST00000336431.5	-	4	660	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	206					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCGGACTCCCGGAAATCAATT	0.557																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(616-618)Cgg>Tgg		gamma-glutamyltransferase 7							64.0	62.0	63.0					20																	33449307		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33449307G>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.616C>T	20.37:g.33449307G>A	ENSP00000338964:p.Arg206Trp						p.R206W	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			4	660	-			206					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.616C>T	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365621	0.82463	.	.	ENSG00000131067	ENST00000336431	T	0.10573	2.86	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.48132	0.1483	H	0.95950	3.745	0.49798	D	0.99982	D;P;D	0.76494	0.998;0.854;0.999	P;B;D	0.64595	0.855;0.253;0.927	T	0.64732	-0.6338	10	0.87932	D	0	-17.0466	19.926	0.97102	0.0:0.0:1.0:0.0	.	206;206;206	Q9UJ14-5;A4FU32;Q9UJ14	.;.;GGT7_HUMAN	W	206	ENSP00000338964:R206W	ENSP00000338964:R206W	R	-	1	2	GGT7	32912968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.901000	0.63259	2.707000	0.92482	0.655000	0.94253	CGG		0.557	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		7	40	0	0	0	1	0	7	40				
RPS6KA4	8986	broad.mit.edu	37	11	64136019	64136019	+	Missense_Mutation	SNP	G	G	A	rs199674030		TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr11:64136019G>A	ENST00000334205.4	+	11	1345	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.R420H|MIR1237_ENST00000408346.1_RNA|RPS6KA4_ENST00000294261.4_Intron	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	427	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GTGTGTCGCCGCTGCCGCCAG	0.701													G|||	1	0.000199681	0.0	0.0	5008	,	,		9970	0.0		0.001	False		,,,				2504	0.0					ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(1258-1260)cGc>cAc		ribosomal protein S6 kinase, 90kDa, polypeptide 4		G	HIS/ARG,HIS/ARG	1,4357		0,1,2178	9.0	11.0	11.0		1262,1280	4.5	1.0	11		11	12,8514		0,12,4251	yes	missense,missense	RPS6KA4	NM_001006944.1,NM_003942.2	29,29	0,13,6429	AA,AG,GG		0.1407,0.0229,0.1009	probably-damaging,probably-damaging	421/767,427/773	64136019	13,12871	2179	4263	6442	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64136019G>A	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.1280G>A	11.37:g.64136019G>A	ENSP00000333896:p.Arg427His					RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R427H	p.R420H	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			11	1347	+			427			Protein kinase 2.		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.1259G>A	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	g	17.24	3.339473	0.60963	2.29E-4	0.001407	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000530504	T;T;T	0.42513	0.97;0.97;0.97	4.5	4.5	0.54988	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.221656	0.37530	N	0.002053	T	0.47451	0.1446	L	0.33339	1.005	0.09310	N	0.999995	D;D;D	0.69078	0.963;0.997;0.984	P;D;P	0.65323	0.616;0.934;0.843	T	0.32214	-0.9915	10	0.72032	D	0.01	.	8.538	0.33375	0.108:0.0:0.892:0.0	.	420;427;421	E9PJN1;O75676;O75676-2	.;KS6A4_HUMAN;.	H	420;427;405	ENSP00000435580:R420H;ENSP00000333896:R427H;ENSP00000432945:R405H	ENSP00000333896:R427H	R	+	2	0	RPS6KA4	63892595	0.333000	0.24731	0.997000	0.53966	0.668000	0.39293	2.159000	0.42339	2.059000	0.61396	0.462000	0.41574	CGC		0.701	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		5	1	0	0	0	1	0	5	1				
SUPT6H	6830	broad.mit.edu	37	17	27023888	27023888	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr17:27023888C>T	ENST00000314616.6	+	30	4280	c.3997C>T	c.(3997-3999)Cca>Tca	p.P1333S	SUPT6H_ENST00000347486.4_Missense_Mutation_p.P1333S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1333	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATCGCACACCCATCCTTCCA	0.498																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3997-3999)Cca>Tca		suppressor of Ty 6 homolog (S. cerevisiae)							127.0	107.0	114.0					17																	27023888		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27023888C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3997C>T	17.37:g.27023888C>T	ENSP00000319104:p.Pro1333Ser					SUPT6H_ENST00000347486.4_Missense_Mutation_p.P1333S	p.P1333S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			30	4280	+	Lung NSC(42;0.00431)		1333			SH2.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.3997C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270240	0.95429	.	.	ENSG00000109111	ENST00000314616	T	0.31510	1.49	6.07	6.07	0.98685	SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.72033	-0.4412	10	0.66056	D	0.02	-9.9544	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1333	Q7KZ85	SPT6H_HUMAN	S	1333	ENSP00000319104:P1333S	ENSP00000319104:P1333S	P	+	1	0	SUPT6H	24048015	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.399000	0.79935	2.884000	0.98904	0.655000	0.94253	CCA		0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		16	32	0	0	0	1	0	16	32				
HDAC2	3066	broad.mit.edu	37	6	114270226	114270226	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr6:114270226T>C	ENST00000519065.1	-	8	1134	c.758A>G	c.(757-759)tAt>tGt	p.Y253C	HDAC2_ENST00000398283.2_Missense_Mutation_p.Y347C|HDAC2_ENST00000519108.1_Missense_Mutation_p.Y223C|HDAC2_ENST00000368632.2_Missense_Mutation_p.Y223C			Q92769	HDAC2_HUMAN	histone deacetylase 2	253	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	ACTAGGTTGATACATCTCCAT	0.363																																						ENST00000519065.1																			0				biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27						c.(757-759)tAt>tGt		histone deacetylase 2	Vorinostat(DB02546)						208.0	187.0	194.0					6																	114270226		1988	4173	6161	SO:0001583	missense	3066				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	g.chr6:114270226T>C	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.758A>G	6.37:g.114270226T>C	ENSP00000430432:p.Tyr253Cys					HDAC2_ENST00000519108.1_Missense_Mutation_p.Y223C|HDAC2_ENST00000398283.2_Missense_Mutation_p.Y347C|HDAC2_ENST00000368632.2_Missense_Mutation_p.Y223C	p.Y253C			Q92769	HDAC2_HUMAN		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	8	1134	-		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)	253			Histone deacetylase.		B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	37	c.758A>G	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	T	24.0	4.485314	0.84854	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.8	5.8	0.92144	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000004	D	0.90222	0.6943	H	0.98199	4.17	0.80722	D	1	D;D	0.67145	0.996;0.992	D;P	0.71656	0.974;0.881	D	0.93806	0.7105	10	0.87932	D	0	-30.1926	16.1408	0.81519	0.0:0.0:0.0:1.0	.	223;253	B3KRS5;Q92769	.;HDAC2_HUMAN	C	253;347;223;223	ENSP00000430432:Y253C;ENSP00000381331:Y347C;ENSP00000430008:Y223C;ENSP00000357621:Y223C	ENSP00000357621:Y223C	Y	-	2	0	HDAC2	114376919	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.099000	0.64554	2.218000	0.71995	0.533000	0.62120	TAT		0.363	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2			6	102	0	0	0	1	0	6	102				
DNASE1	1773	broad.mit.edu	37	16	3706108	3706108	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr16:3706108C>G	ENST00000246949.5	+	4	3451	c.242C>G	c.(241-243)gCa>gGa	p.A81G	DNASE1_ENST00000407479.1_Missense_Mutation_p.A81G|DNASE1_ENST00000414110.2_Missense_Mutation_p.H2D	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	81					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		TCCAGGGATGCACCAGACACC	0.597																																						ENST00000246949.5																			0				lung(1)	1						c.(241-243)gCa>gGa		deoxyribonuclease I	Dornase Alfa(DB00003)						86.0	79.0	81.0					16																	3706108		2197	4300	6497	SO:0001583	missense	1773				apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity	g.chr16:3706108C>G		CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.242C>G	16.37:g.3706108C>G	ENSP00000246949:p.Ala81Gly					DNASE1_ENST00000414110.2_Missense_Mutation_p.H2D|DNASE1_ENST00000407479.1_Missense_Mutation_p.A81G	p.A81G	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN		Kidney(780;0.0556)	4	3451	+		Ovarian(90;0.0261)	81					B4DV35|Q14UU9|Q14UV0	Missense_Mutation	SNP	ENST00000246949.5	37	c.242C>G	CCDS10507.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.38|11.38	1.622352|1.622352	0.28889|0.28889	.|.	.|.	ENSG00000213918|ENSG00000213918	ENST00000407479;ENST00000246949|ENST00000414110	T;T|T	0.51325|0.46819	0.71;0.71|0.86	5.06|5.06	-2.07|-2.07	0.07276|0.07276	Endonuclease/exonuclease/phosphatase (2);|.	1.806170|.	0.02552|.	N|.	0.095796|.	T|T	0.25269|0.25269	0.0614|0.0614	N|N	0.12746|0.12746	0.255|0.255	0.09310|0.09310	N|N	1|1	B|.	0.33777|.	0.425|.	B|.	0.28916|.	0.096|.	T|T	0.22347|0.22347	-1.0219|-1.0219	10|7	0.37606|0.87932	T|D	0.19|0	-7.8118|-7.8118	2.0623|2.0623	0.03595|0.03595	0.4651:0.2015:0.1899:0.1434|0.4651:0.2015:0.1899:0.1434	.|.	81|.	P24855|.	DNAS1_HUMAN|.	G|D	81|2	ENSP00000385905:A81G;ENSP00000246949:A81G|ENSP00000416699:H2D	ENSP00000246949:A81G|ENSP00000416699:H2D	A|H	+|+	2|1	0|0	DNASE1|DNASE1	3646109|3646109	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.030000|0.030000	0.12068|0.12068	-1.071000|-1.071000	0.03437|0.03437	-0.763000|-0.763000	0.04658|0.04658	0.561000|0.561000	0.74099|0.74099	GCA|CAC		0.597	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251585.2			7	54	0	0	0	1	0	7	54				
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	lincRNA	SNP	A	A	G	rs577974396	byFrequency	TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522																																						ENST00000565869.1																			0																																																			645752							g.chr15:78211648A>G																													15.37:g.78211648A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.522	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	59	0	0	0	1	0	3	59				
LSS	4047	broad.mit.edu	37	21	47648646	47648646	+	Splice_Site	SNP	G	G	A			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr21:47648646G>A	ENST00000397728.3	-	1	92	c.14C>T	c.(13-15)aCg>aTg	p.T5M	MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|LSS_ENST00000464357.1_5'UTR|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000420074.1_RNA|LSS_ENST00000522411.1_Splice_Site_p.T5M|LSS_ENST00000457828.2_De_novo_Start_InFrame|LSS_ENST00000356396.4_Splice_Site_p.T5M|MCM3AP-AS1_ENST00000588753.1_RNA	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	5					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGGGACTCACGTGCCCTCCGT	0.746																																					Pancreas(114;955 2313 34923 50507)	ENST00000457828.2																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21								lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							20.0	21.0	21.0					21																	47648646		2194	4291	6485	SO:0001630	splice_region_variant	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47648646G>A	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.14+1C>T	21.37:g.47648646G>A						LSS_ENST00000522411.1_Splice_Site_p.T5_splice|LSS_ENST00000356396.4_Splice_Site_p.T5_splice|LSS_ENST00000397728.3_Splice_Site_p.T5_splice|LSS_ENST00000464357.1_5'UTR		NM_001145437.1	NP_001138909.1	P48449	ERG7_HUMAN			0	92	-	Breast(49;0.214)							B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Translation_Start_Site	SNP	ENST00000397728.3	37		CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711957	0.68730	.	.	ENSG00000160285	ENST00000356396;ENST00000397728;ENST00000522411	T;T;T	0.14893	2.47;2.47;2.47	3.95	3.95	0.45737	.	0.066662	0.64402	D	0.000017	T	0.30166	0.0756	L	0.57536	1.79	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.57371	0.819;0.664	T	0.02646	-1.1129	10	0.62326	D	0.03	.	11.6566	0.51322	0.0:0.0:1.0:0.0	.	5;5	E9PEI9;P48449	.;ERG7_HUMAN	M	5	ENSP00000348762:T5M;ENSP00000380837:T5M;ENSP00000429133:T5M	ENSP00000348762:T5M	T	-	2	0	LSS	46473074	0.001000	0.12720	0.576000	0.28549	0.274000	0.26718	0.025000	0.13577	2.212000	0.71576	0.491000	0.48974	ACG		0.746	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2		Missense_Mutation	4	12	0	0	0	1	0	4	12				
LGALS14	56891	broad.mit.edu	37	19	40199856	40199856	+	Missense_Mutation	SNP	G	G	C	rs111361406		TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr19:40199856G>C	ENST00000392052.3	+	4	546	c.323G>C	c.(322-324)cGc>cCc	p.R108P	LGALS14_ENST00000360675.3_Missense_Mutation_p.R137P	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	108	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)	nucleus (GO:0005634)	carbohydrate binding (GO:0030246)	p.R108L(1)|p.R137L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			AATGGCCAACGCATTTACAAC	0.468																																						ENST00000392052.3																			2	Substitution - Missense(2)	p.R108L(1)|p.R137L(1)	endometrium(2)	breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14						c.(322-324)cGc>cCc		lectin, galactoside-binding, soluble, 14		G	PRO/ARG,PRO/ARG	1,4405		0,1,2202	109.0	106.0	107.0		323,410	-1.8	0.0	19	dbSNP_132	107	0,8600		0,0,4300	no	missense,missense	LGALS14	NM_020129.2,NM_203471.1	103,103	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	benign,benign	108/140,137/169	40199856	1,13005	2203	4300	6503	SO:0001583	missense	56891					nucleus	sugar binding	g.chr19:40199856G>C	AF267852	CCDS12542.1, CCDS46073.1	19q13.2	2014-03-19			ENSG00000006659	ENSG00000006659		"""Lectins, galactoside-binding"""	30054	protein-coding gene	gene with protein product		607260				11997112	Standard	NM_020129		Approved	PPL13, CLC2	uc002omg.3	Q8TCE9	OTTHUMG00000183143	ENST00000392052.3:c.323G>C	19.37:g.40199856G>C	ENSP00000375905:p.Arg108Pro					LGALS14_ENST00000360675.3_Missense_Mutation_p.R137P	p.R108P	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)		4	546	+	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	108			Galectin.		A8MPV8|B2R530|C5HZ19|Q7Z4X8|Q96KD4|Q96KD5|Q96KD6|Q9NR03	Missense_Mutation	SNP	ENST00000392052.3	37	c.323G>C	CCDS46073.1	.	.	.	.	.	.	.	.	.	.	.	0.061	-1.224251	0.01530	2.27E-4	0.0	ENSG00000006659	ENST00000392052;ENST00000360675	T;T	0.05447	3.44;3.44	0.902	-1.8	0.07907	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.03915	0.0110	N	0.25060	0.705	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.15484	0.002;0.013	T	0.42865	-0.9426	9	0.33141	T	0.24	.	4.5317	0.12008	0.716:0.0:0.284:0.0	.	108;137	Q8TCE9;A8MPV8	PPL13_HUMAN;.	P	108;137	ENSP00000375905:R108P;ENSP00000353893:R137P	ENSP00000353893:R137P	R	+	2	0	LGALS14	44891696	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.870000	0.04228	-0.825000	0.04290	-0.671000	0.03813	CGC		0.468	LGALS14-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465222.1	NM_020129		9	101	0	0	0	1	0	9	101				
ITGAV	3685	broad.mit.edu	37	2	187455082	187455082	+	Missense_Mutation	SNP	G	G	A	rs572317414	byFrequency	TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr2:187455082G>A	ENST00000261023.3	+	1	291	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	ITGAV_ENST00000374907.3_Missense_Mutation_p.R6Q	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	6					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TTTCCGCCGCGGCGACGGCTG	0.741																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(16-18)cGg>cAg		integrin, alpha V							15.0	18.0	17.0					2																	187455082		2193	4287	6480	SO:0001583	missense	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187455082G>A		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.17G>A	2.37:g.187455082G>A	ENSP00000261023:p.Arg6Gln					ITGAV_ENST00000374907.3_Missense_Mutation_p.R6Q	p.R6Q	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	1	291	+			6					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	ENST00000261023.3	37	c.17G>A	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723975	0.48728	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907	T;T	0.68181	-0.31;-0.29	3.85	-1.38	0.09027	.	1.333680	0.05192	N	0.503212	T	0.51805	0.1696	N	0.24115	0.695	0.09310	N	0.999996	B;B	0.27264	0.173;0.108	B;B	0.22880	0.042;0.01	T	0.33085	-0.9882	10	0.27082	T	0.32	.	12.1412	0.53998	0.0:0.6239:0.2542:0.1219	.	6;6	P06756-2;P06756	.;ITAV_HUMAN	Q	6	ENSP00000261023:R6Q;ENSP00000364042:R6Q	ENSP00000261023:R6Q	R	+	2	0	ITGAV	187163327	0.001000	0.12720	0.000000	0.03702	0.342000	0.28953	0.147000	0.16202	-0.445000	0.07159	0.563000	0.77884	CGG		0.741	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		6	40	0	0	0	1	0	6	40				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	45	0	0	0	1	0	4	45				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	56	0	0	0	1	0	3	56				
GAD1	2571	broad.mit.edu	37	2	171675133	171675133	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr2:171675133C>T	ENST00000358196.3	+	2	582	c.32C>T	c.(31-33)aCc>aTc	p.T11I	GAD1_ENST00000375272.1_Missense_Mutation_p.T11I|GAD1_ENST00000344257.5_Missense_Mutation_p.T11I|GAD1_ENST00000429023.1_3'UTR|AC007405.8_ENST00000451730.1_RNA|AC007405.8_ENST00000455988.1_RNA|AC007405.8_ENST00000418106.1_RNA	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	11					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						TCGTCCGCAACCTCCTCGAAC	0.607																																						ENST00000358196.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						c.(31-33)aCc>aTc		glutamate decarboxylase 1 (brain, 67kDa)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						83.0	84.0	83.0					2																	171675133		2203	4300	6503	SO:0001583	missense	2571				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr2:171675133C>T		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.32C>T	2.37:g.171675133C>T	ENSP00000350928:p.Thr11Ile					GAD1_ENST00000375272.1_Missense_Mutation_p.T11I|GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.T11I	p.T11I	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN			2	582	+			11					Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	ENST00000358196.3	37	c.32C>T	CCDS2239.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694255	0.68386	.	.	ENSG00000128683	ENST00000454603;ENST00000445006;ENST00000358196;ENST00000375272;ENST00000344257;ENST00000455008;ENST00000456864	T;T;T;T;T;T;T	0.80304	-1.16;-1.36;2.3;0.43;0.43;-1.14;-1.14	5.77	5.77	0.91146	.	0.400083	0.24703	N	0.036294	T	0.68504	0.3008	N	0.08118	0	0.34169	D	0.669555	B;B	0.23058	0.079;0.039	B;B	0.25987	0.029;0.065	T	0.73193	-0.4060	10	0.66056	D	0.02	-1.6538	17.4922	0.87707	0.0:1.0:0.0:0.0	.	11;11	Q99259;Q99259-3	DCE1_HUMAN;.	I	11	ENSP00000402366:T11I;ENSP00000394948:T11I;ENSP00000350928:T11I;ENSP00000364421:T11I;ENSP00000341167:T11I;ENSP00000405917:T11I;ENSP00000394255:T11I	ENSP00000341167:T11I	T	+	2	0	GAD1	171383379	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.545000	0.60698	2.724000	0.93272	0.561000	0.74099	ACC		0.607	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102664.2			19	81	0	0	0	1	0	19	81				
LINC00691	152024	broad.mit.edu	37	3	24138347	24138349	+	lincRNA	DEL	ATC	ATC	-			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr3:24138347_24138349delATC	ENST00000436123.1	-	0	2374_2376									long intergenic non-protein coding RNA 691																		catcaaaattatcatcatcatca	0.345																																						ENST00000436123.1																			0																																																			152024							g.chr3:24138347_24138349delATC			3p24.2	2012-11-13			ENSG00000224074	ENSG00000224074		"""Long non-coding RNAs"""	44514	non-coding RNA	RNA, long non-coding							Standard	NR_026834		Approved		uc003ccv.2		OTTHUMG00000155662		3.37:g.24138356_24138358delATC														0	2374_2376	-									RNA	DEL	ENST00000436123.1	37																																																																																						0.345	LINC00691-003	KNOWN	mRNA_start_NF|basic	lincRNA	lincRNA	OTTHUMT00000341066.1			2	4						2	4	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139907954	139907960	+	Frame_Shift_Del	DEL	CTTTGGG	CTTTGGG	-			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr5:139907954_139907960delCTTTGGG	ENST00000360839.2	+	29	5577_5583	c.5423_5429delCTTTGGG	c.(5422-5430)cctttgggtfs	p.PLG1808fs	ANKHD1_ENST00000544120.1_Frame_Shift_Del_p.PLG191fs|SNORD45_ENST00000363181.1_RNA|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.PLG1808fs|ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.PLG1808fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1808						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCATTTCCTTTGGGTGCTCCAACT	0.406																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(5422-5430)ctfs		ankyrin repeat and KH domain containing 1																																				SO:0001589	frameshift_variant	54882							g.chr5:139907954_139907960delCTTTGGG	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.5423_5429delCTTTGGG	5.37:g.139907954_139907960delCTTTGGG	ENSP00000354085:p.Pro1808fs					ANKHD1_ENST00000544120.1_Frame_Shift_Del_p.PLG191fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.PLG1808fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.PLG1808fs	p.PLG1808fs	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	5547_5553	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	c.5423_5429delCTTTGGG	CCDS4225.1																																																																																				0.406	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		8	141						8	141	---	---	---	---
CIZ1	25792	broad.mit.edu	37	9	130953109	130953111	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr9:130953109_130953111delGCT	ENST00000393608.1	-	2	228_230	c.26_28delAGC	c.(25-30)cagctc>ctc	p.Q9del	CIZ1_ENST00000372948.3_In_Frame_Del_p.Q9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.Q9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.Q9del|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000325721.8_In_Frame_Del_p.Q9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.Q9del|CIZ1_ENST00000372954.1_In_Frame_Del_p.Q9del|CIZ1_ENST00000538431.1_In_Frame_Del_p.Q9del|CIZ1_ENST00000541172.1_5'UTR	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	9	Gln-rich.			Missing (in Ref. 7; AAF23231). {ECO:0000305}.	maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgttgctggagctgctgctgctg	0.611																																						ENST00000538431.1																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(25-30)ctc>c		CDKN1A interacting zinc finger protein 1			,,,,	114,3828		2,110,1859					,,,,	1.9	0.9			11	280,7402		13,254,3574	no	coding,coding,coding,coding,coding	CIZ1	NM_012127.2,NM_001131018.1,NM_001131017.1,NM_001131016.1,NM_001131015.1	,,,,	15,364,5433	A1A1,A1R,RR		3.6449,2.8919,3.3895	,,,,	,,,,		394,11230				SO:0001651	inframe_deletion	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130953109_130953111delGCT	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.26_28delAGC	9.37:g.130953118_130953120delGCT	ENSP00000377232:p.Gln9del					CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del|CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000476727.2_5'UTR	p.QL9del	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN			2	273_275	-			9	Missing (in Ref. 7; AAF23231).		Gln-rich.		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	In_Frame_Del	DEL	ENST00000393608.1	37	c.26_28delAGC	CCDS6894.1																																																																																				0.611	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	NM_012127		3	6						3	6	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(958-960)tgafs		diaphanous-related formin 3			,	3,3461		0,3,1729					,	5.8	0.8			86	6,7780		0,6,3887	no	frameshift,frameshift	DIAPH3	NM_030932.3,NM_001042517.1	,	0,9,5616	A1A1,A1R,RR		0.0771,0.0866,0.08	,	,		9,11241				SO:0001589	frameshift_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60582733_60582734insT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.959dupA	13.37:g.60582742_60582742dupT	ENSP00000383178:p.Ile320fs					DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs	p.*320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	9	1178_1179	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	320			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Frame_Shift_Ins	INS	ENST00000400324.4	37	c.958_959insA	CCDS41898.1																																																																																				0.322	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		10	176						10	176	---	---	---	---
LINC00639	283547	broad.mit.edu	37	14	39304594	39304594	+	lincRNA	DEL	T	T	-			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr14:39304594delT	ENST00000553932.1	-	0	3825									long intergenic non-protein coding RNA 639																		CAGAGAATGATGGAGAAGCCT	0.567																																						ENST00000553932.1																			0																																																			283547							g.chr14:39304594delT	AK125018, AK127318, BC035119		14q21.1	2012-10-12			ENSG00000259070	ENSG00000259070		"""Long non-coding RNAs"""	27502	non-coding RNA	RNA, long non-coding							Standard	NR_039982		Approved		uc001wun.3		OTTHUMG00000170746		14.37:g.39304594delT														0	3825	-									RNA	DEL	ENST00000553932.1	37																																																																																						0.567	LINC00639-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000410191.1	NR_039982		2	4						2	4	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25442755	25442755	+	RNA	DEL	G	G	-			TCGA-WB-A81E-01A-11D-A35I-08	TCGA-WB-A81E-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8cbc6844-3fc6-4bdd-90ce-6f84c44599bc	fb0abb31-3189-40f1-8ccb-24f94ef1c578	g.chr15:25442755delG	ENST00000424208.1	+	0	1636				SNORD115-15_ENST00000364809.1_RNA|SNORD115-16_ENST00000363887.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATGTTCTGAAGAGAGGTGATG	0.498																																						ENST00000424208.1																			0																				462.0	460.0	461.0					15																	25442755		876	1991	2867			104472715							g.chr15:25442755delG			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.25442755delG						SNHG14_ENST00000424333.1_RNA|SNORD115-15_ENST00000364809.1_RNA		NR_003305.1						0	1636	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.498	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			27	485						27	485	---	---	---	---
