#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
XKR4	114786	broad.mit.edu	37	8	56436610	56436610	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:56436610T>C	ENST00000327381.6	+	3	1877	c.1777T>C	c.(1777-1779)Tca>Cca	p.S593P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	593						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GATTGAAGAATCAGTCATTAA	0.488																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1777-1779)Tca>Cca		XK, Kell blood group complex subunit-related family, member 4							104.0	101.0	102.0					8																	56436610		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436610T>C	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1777T>C	8.37:g.56436610T>C	ENSP00000328326:p.Ser593Pro						p.S593P	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1877	+			593					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1777T>C	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	T	0.618	-0.822141	0.02755	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.79554	-1.28	5.82	5.82	0.92795	.	0.055638	0.64402	D	0.000001	T	0.54759	0.1878	N	0.01576	-0.805	0.47374	D	0.999407	B	0.17852	0.024	B	0.15484	0.013	T	0.59936	-0.7360	10	0.02654	T	1	-4.3585	16.1839	0.81934	0.0:0.0:0.0:1.0	.	593	Q5GH76	XKR4_HUMAN	P	593	ENSP00000328326:S593P	ENSP00000328326:S593P	S	+	1	0	XKR4	56599164	1.000000	0.71417	0.980000	0.43619	0.578000	0.36192	4.170000	0.58229	2.222000	0.72286	0.533000	0.62120	TCA		0.488	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		31	61	0	0	0	1	0	31	61				
TMEM155	132332	broad.mit.edu	37	4	122681459	122681459	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:122681459T>A	ENST00000337677.5	-	6	941	c.383A>T	c.(382-384)aAg>aTg	p.K128M	TMEM155_ENST00000394396.1_Missense_Mutation_p.K128M|TMEM155_ENST00000394394.1_Missense_Mutation_p.K128M	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	128						extracellular region (GO:0005576)				breast(1)|lung(5)	6						tcagacaatcttgcagatagc	0.403																																						ENST00000337677.5																			0				breast(1)|lung(5)	6						c.(382-384)aAg>aTg		transmembrane protein 155							70.0	69.0	70.0					4																	122681459		2202	4300	6502	SO:0001583	missense	132332					extracellular region		g.chr4:122681459T>A	AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.383A>T	4.37:g.122681459T>A	ENSP00000336987:p.Lys128Met					TMEM155_ENST00000394396.1_Missense_Mutation_p.K128M|TMEM155_ENST00000394394.1_Missense_Mutation_p.K128M	p.K128M	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN			6	941	-			128					D3DNW9|Q96NI2	Missense_Mutation	SNP	ENST00000337677.5	37	c.383A>T	CCDS3721.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.472352	0.43942	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394	T;T;T	0.56103	0.48;0.48;0.48	3.94	1.45	0.22620	.	0.173935	0.27447	N	0.019323	T	0.47637	0.1456	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.29912	-0.9996	10	0.87932	D	0	-0.5549	3.9221	0.09248	0.0:0.1135:0.2176:0.669	.	128	Q4W5P6	TM155_HUMAN	M	128	ENSP00000377919:K128M;ENSP00000336987:K128M;ENSP00000377917:K128M	ENSP00000336987:K128M	K	-	2	0	TMEM155	122900909	0.000000	0.05858	0.004000	0.12327	0.766000	0.43426	-0.004000	0.12878	0.324000	0.23333	0.528000	0.53228	AAG		0.403	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399		16	28	0	0	0	1	0	16	28				
SSTR3	6753	broad.mit.edu	37	22	37603530	37603530	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr22:37603530C>T	ENST00000328544.3	-	2	846	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	SSTR3_ENST00000402501.1_Missense_Mutation_p.A105T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	105					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	TAGGACAGGGCGTTCTGGGCG	0.622																																						ENST00000328544.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						c.(313-315)Gcc>Acc		somatostatin receptor 3							78.0	72.0	74.0					22																	37603530		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603530C>T		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.313G>A	22.37:g.37603530C>T	ENSP00000330138:p.Ala105Thr					SSTR3_ENST00000402501.1_Missense_Mutation_p.A105T	p.A105T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN			2	846	-			105					A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.313G>A	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529900	0.85706	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.37752	1.18;1.18	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.069987	0.64402	D	0.000005	T	0.48714	0.1515	L	0.54908	1.71	0.58432	D	0.999999	D	0.56968	0.978	P	0.54210	0.745	T	0.16100	-1.0414	10	0.18710	T	0.47	.	20.1238	0.97972	0.0:1.0:0.0:0.0	.	105	P32745	SSR3_HUMAN	T	105	ENSP00000330138:A105T;ENSP00000384904:A105T	ENSP00000330138:A105T	A	-	1	0	SSTR3	35933476	0.983000	0.35010	0.986000	0.45419	0.904000	0.53231	2.618000	0.46393	2.764000	0.94973	0.557000	0.71058	GCC		0.622	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			52	73	0	0	0	1	0	52	73				
NAA10	8260	broad.mit.edu	37	X	153195616	153195616	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:153195616T>C	ENST00000464845.1	-	8	850	c.532A>G	c.(532-534)Aac>Gac	p.N178D	NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.N163D|NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000393710.3_5'Flank	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	178					DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						TCCACCTTGTTCTCGATGGCA	0.627																																					Ovarian(94;1099 1433 38814 45882 51063)	ENST00000464845.1																			0				breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						c.(532-534)Aac>Gac		N(alpha)-acetyltransferase 10, NatA catalytic subunit							123.0	96.0	106.0					X																	153195616		2203	4300	6503	SO:0001583	missense	8260				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chrX:153195616T>C	BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	18704	protein-coding gene	gene with protein product		300013	"""ARD1 homolog, N-acetyltransferase (S. cerevisiae)"", ""ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"""	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.532A>G	X.37:g.153195616T>C	ENSP00000417763:p.Asn178Asp					NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.N163D|NAA10_ENST00000393712.3_3'UTR	p.N178D	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN			8	850	-			178					A6NM98	Missense_Mutation	SNP	ENST00000464845.1	37	c.532A>G	CCDS14737.1	.	.	.	.	.	.	.	.	.	.	T	12.92	2.083474	0.36758	.	.	ENSG00000102030	ENST00000464845;ENST00000370009	T;T	0.58506	0.33;0.36	4.61	4.61	0.57282	.	0.266832	0.36101	N	0.002793	T	0.48978	0.1530	L	0.46157	1.445	0.36577	D	0.873309	B;B	0.11235	0.002;0.004	B;B	0.06405	0.002;0.002	T	0.52704	-0.8540	10	0.29301	T	0.29	-10.5369	12.1261	0.53917	0.0:0.0:0.0:1.0	.	163;178	A6NM98;P41227	.;NAA10_HUMAN	D	178;163	ENSP00000417763:N178D;ENSP00000359026:N163D	ENSP00000359026:N163D	N	-	1	0	NAA10	152848810	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.523000	0.45580	1.704000	0.51252	0.425000	0.28330	AAC		0.627	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061108.2	NM_003491		69	78	0	0	0	1	0	69	78				
LATS2	26524	broad.mit.edu	37	13	21562142	21562142	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr13:21562142G>A	ENST00000382592.4	-	4	2182	c.1777C>T	c.(1777-1779)Cgc>Tgc	p.R593C	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Missense_Mutation_p.R593C	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCTTGATGCGTGACTCTCTC	0.512																																						ENST00000382592.4																			0				breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1777-1779)Cgc>Tgc		large tumor suppressor kinase 2							260.0	263.0	262.0					13																	21562142		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562142G>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1777C>T	13.37:g.21562142G>A	ENSP00000372035:p.Arg593Cys					LATS2_ENST00000542899.1_Missense_Mutation_p.R593C	p.R593C	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	2182	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	593						Missense_Mutation	SNP	ENST00000382592.4	37	c.1777C>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353182	0.82132	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.56275	0.47;0.47	5.12	5.12	0.69794	.	0.090399	0.47093	D	0.000257	T	0.64853	0.2636	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.66351	0.943	T	0.66436	-0.5924	10	0.72032	D	0.01	.	13.7424	0.62855	0.0:0.0:0.8464:0.1536	.	593	Q9NRM7	LATS2_HUMAN	C	593	ENSP00000372035:R593C;ENSP00000441817:R593C	ENSP00000372035:R593C	R	-	1	0	LATS2	20460142	1.000000	0.71417	0.933000	0.37362	0.951000	0.60555	5.930000	0.70104	2.691000	0.91804	0.549000	0.68633	CGC		0.512	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			18	103	0	0	0	1	0	18	103				
GPR98	84059	broad.mit.edu	37	5	89948203	89948203	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr5:89948203T>C	ENST00000405460.2	+	19	3553	c.3457T>C	c.(3457-3459)Tct>Cct	p.S1153P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1153	Calx-beta 9. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTTTCTGTATCTTGGCAGCT	0.383																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(3457-3459)Tct>Cct		G protein-coupled receptor 98							176.0	164.0	168.0					5																	89948203		1910	4140	6050	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89948203T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3457T>C	5.37:g.89948203T>C	ENSP00000384582:p.Ser1153Pro						p.S1153P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	19	3553	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1153					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.3457T>C	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.51|12.51	1.959628|1.959628	0.34565|0.34565	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000504142|ENST00000405460;ENST00000296619;ENST00000399043	.|T	.|0.27256	.|1.68	6.08|6.08	2.91|2.91	0.33838|0.33838	.|.	.|0.686593	.|0.16069	.|N	.|0.231081	T|T	0.10380|0.10380	0.0254|0.0254	N|N	0.11427|0.11427	0.14|0.14	0.58432|0.58432	D|D	0.999998|0.999998	.|B	.|0.31290	.|0.318	.|B	.|0.25405	.|0.06	T|T	0.15350|0.15350	-1.0440|-1.0440	5|10	.|0.36615	.|T	.|0.2	.|.	2.8253|2.8253	0.05483|0.05483	0.1061:0.1451:0.4277:0.3211|0.1061:0.1451:0.4277:0.3211	.|.	.|1153	.|Q8WXG9	.|GPR98_HUMAN	T|P	741|1153	.|ENSP00000384582:S1153P	.|ENSP00000296619:S1153P	I|S	+|+	2|1	0|0	GPR98|GPR98	89983959|89983959	0.914000|0.914000	0.31030|0.31030	1.000000|1.000000	0.80357|0.80357	0.871000|0.871000	0.50021|0.50021	0.691000|0.691000	0.25467|0.25467	0.860000|0.860000	0.35481|0.35481	-0.452000|-0.452000	0.05504|0.05504	ATC|TCT		0.383	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		4	140	0	0	0	1	0	4	140				
OGT	8473	broad.mit.edu	37	X	70776956	70776956	+	Splice_Site	SNP	G	G	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:70776956G>T	ENST00000373719.3	+	10	1537		c.e10+1		OGT_ENST00000373701.3_Splice_Site	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase						apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATTCATAAGGTACTACTGTT	0.368																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.e10+1		O-linked N-acetylglucosamine (GlcNAc) transferase							67.0	55.0	59.0					X																	70776956		2203	4300	6503	SO:0001630	splice_region_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70776956G>T	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1320+1G>T	X.37:g.70776956G>T						OGT_ENST00000373701.3_Splice_Site		NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			10	1537	+	Renal(35;0.156)							Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Splice_Site	SNP	ENST00000373719.3	37		CCDS14414.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635375	0.47049	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4676	0.90761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OGT	70693681	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	9.582000	0.98214	2.557000	0.86248	0.594000	0.82650	.		0.368	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672	Intron	4	31	1	0	5.9392e-07	1	6.1065e-07	4	31				
GABRA3	2556	broad.mit.edu	37	X	151336930	151336930	+	Missense_Mutation	SNP	A	A	T	rs200491744		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:151336930A>T	ENST00000370314.4	-	10	1487	c.1249T>A	c.(1249-1251)Tcc>Acc	p.S417T	GABRA3_ENST00000535043.1_Missense_Mutation_p.S417T|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	417					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCGCCCTTGGAGATGGTGGAA	0.552																																					NSCLC(142;2578 2613 10251 16743)	ENST00000370314.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37						c.(1249-1251)Tcc>Acc		gamma-aminobutyric acid (GABA) A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						290.0	237.0	255.0					X																	151336930		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151336930A>T		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1249T>A	X.37:g.151336930A>T	ENSP00000359337:p.Ser417Thr					RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.S417T|GABRA3_ENST00000370311.1_Missense_Mutation_p.S417T	p.S417T	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN			10	1487	-	Acute lymphoblastic leukemia(192;6.56e-05)		417					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.1249T>A	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	A	10.34	1.323489	0.24080	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.82081	-1.57;-1.57;-1.57	4.71	3.49	0.39957	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.029980	0.07604	N	0.924197	T	0.76118	0.3943	L	0.39245	1.2	0.36884	D	0.889555	B	0.33000	0.393	B	0.31495	0.131	T	0.64757	-0.6332	10	0.33141	T	0.24	.	8.36	0.32353	0.6137:0.3863:0.0:0.0	.	417	P34903	GBRA3_HUMAN	T	417	ENSP00000359337:S417T;ENSP00000359334:S417T;ENSP00000443527:S417T	ENSP00000359334:S417T	S	-	1	0	GABRA3	151087586	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.662000	0.46766	0.544000	0.28883	0.483000	0.47432	TCC		0.552	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		14	280	0	0	0	1	0	14	280				
INPP5F	22876	broad.mit.edu	37	10	121551532	121551532	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr10:121551532G>A	ENST00000361976.2	+	5	762	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	INPP5F_ENST00000369083.3_Missense_Mutation_p.R199Q|INPP5F_ENST00000369081.1_Missense_Mutation_p.R103Q	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGGGACGGTCGGCCCCTCTGG	0.493																																						ENST00000361976.2																			0				breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(595-597)cGg>cAg		inositol polyphosphate-5-phosphatase F							147.0	152.0	150.0					10																	121551532		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121551532G>A	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.596G>A	10.37:g.121551532G>A	ENSP00000354519:p.Arg199Gln					INPP5F_ENST00000369081.1_Missense_Mutation_p.R103Q|INPP5F_ENST00000369083.3_Missense_Mutation_p.R199Q	p.R199Q	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	5	762	+		Lung NSC(174;0.109)|all_lung(145;0.142)	199			SAC.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.596G>A	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	6.488	0.458312	0.12342	.	.	ENSG00000198825	ENST00000361976;ENST00000369083;ENST00000369081	T;T	0.57107	0.42;0.42	5.68	2.59	0.31030	Synaptojanin, N-terminal (2);	0.510328	0.19940	N	0.102678	T	0.25382	0.0617	N	0.10916	0.065	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.08055	0.003;0.002	T	0.16158	-1.0412	10	0.10902	T	0.67	-0.1054	5.1543	0.15027	0.1796:0.0:0.479:0.3415	.	199;199	Q9Y2H2;Q9Y2H2-3	SAC2_HUMAN;.	Q	199;199;103	ENSP00000354519:R199Q;ENSP00000358079:R199Q	ENSP00000354519:R199Q	R	+	2	0	INPP5F	121541522	0.123000	0.22298	0.003000	0.11579	0.932000	0.56968	2.894000	0.48640	0.752000	0.32923	-0.143000	0.13931	CGG		0.493	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		4	185	0	0	0	1	0	4	185				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		5	174	0	0	0	1	0	5	174				
NR3C2	4306	broad.mit.edu	37	4	149041414	149041414	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:149041414A>G	ENST00000358102.3	-	7	2898	c.2536T>C	c.(2536-2538)Tat>Cat	p.Y846H	NR3C2_ENST00000511528.1_Missense_Mutation_p.Y850H|NR3C2_ENST00000512865.1_Missense_Mutation_p.Y729H|NR3C2_ENST00000355292.3_Missense_Mutation_p.Y850H|NR3C2_ENST00000344721.4_Missense_Mutation_p.Y846H	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	846	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CATAGTTCATACATGGCAGAC	0.448																																					Melanoma(27;428 957 40335 51025 51111)	ENST00000355292.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(2548-2550)Tat>Cat		nuclear receptor subfamily 3, group C, member 2	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						138.0	119.0	125.0					4																	149041414		2203	4300	6503	SO:0001583	missense	0				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr4:149041414A>G	M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2536T>C	4.37:g.149041414A>G	ENSP00000350815:p.Tyr846His					NR3C2_ENST00000511528.1_Missense_Mutation_p.Y850H|NR3C2_ENST00000512865.1_Missense_Mutation_p.Y729H|NR3C2_ENST00000344721.4_Missense_Mutation_p.Y846H|NR3C2_ENST00000342437.4_Silent_p.C680C|NR3C2_ENST00000358102.3_Missense_Mutation_p.Y846H	p.Y850H			P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	7	2910	-	all_hematologic(180;0.151)		846			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	ENST00000358102.3	37	c.2548T>C	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.467620	0.84533	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08	5.53	5.53	0.82687	.	0.198072	0.45361	D	0.000364	D	0.98226	0.9413	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.992	D	0.98959	1.0797	9	.	.	.	.	15.6453	0.77042	1.0:0.0:0.0:0.0	.	729;846	B0ZBF5;B0ZBF6	.;.	H	846;850;846;729;850	ENSP00000341390:Y846H;ENSP00000347441:Y850H;ENSP00000350815:Y846H;ENSP00000423510:Y729H;ENSP00000421481:Y850H	.	Y	-	1	0	NR3C2	149260864	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.046000	0.64226	2.102000	0.63906	0.454000	0.30748	TAT		0.448	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			3	81	0	0	0	1	0	3	81				
CD300LG	146894	broad.mit.edu	37	17	41930300	41930300	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:41930300C>T	ENST00000317310.4	+	3	441	c.400C>T	c.(400-402)Cct>Tct	p.P134S	CD300LG_ENST00000293396.8_Intron|CD300LG_ENST00000539718.1_Missense_Mutation_p.P134S|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000377203.4_Intron	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	134					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCCTCCCTCCCCTTCTCCCAC	0.587																																						ENST00000317310.4																			0				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19						c.(400-402)Cct>Tct		CD300 molecule-like family member g							140.0	132.0	135.0					17																	41930300		2203	4300	6503	SO:0001583	missense	146894					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity	g.chr17:41930300C>T	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.400C>T	17.37:g.41930300C>T	ENSP00000321005:p.Pro134Ser					CD300LG_ENST00000377203.4_Intron|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000539718.1_Missense_Mutation_p.P134S|CD300LG_ENST00000293396.8_Intron	p.P134S	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	3	441	+		Breast(137;0.0199)	134					B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	c.400C>T	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708742	0.30322	.	.	ENSG00000161649	ENST00000317310;ENST00000539718	T;T	0.06142	3.36;3.34	3.04	3.04	0.35103	.	0.000000	0.38837	N	0.001556	T	0.09512	0.0234	N	0.24115	0.695	0.35211	D	0.775194	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.15549	-1.0433	10	0.07030	T	0.85	.	9.8072	0.40801	0.0:1.0:0.0:0.0	.	134;134	F5H7P9;Q6UXG3	.;CLM9_HUMAN	S	134	ENSP00000321005:P134S;ENSP00000442368:P134S	ENSP00000321005:P134S	P	+	1	0	CD300LG	39285826	0.987000	0.35691	0.858000	0.33744	0.664000	0.39144	1.631000	0.37092	2.015000	0.59207	0.462000	0.41574	CCT		0.587	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1	NM_145273		4	226	0	0	0	1	0	4	226				
CLEC12A	160364	broad.mit.edu	37	12	10131591	10131591	+	Missense_Mutation	SNP	C	C	T	rs141455664		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:10131591C>T	ENST00000304361.4	+	2	300	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C|CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C|CLEC12A_ENST00000350667.4_Intron	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TCATGTATGGCGTCCAGCAGC	0.433													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16812	0.0		0.0	False		,,,				2504	0.0				Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(118-120)Cgt>Tgt		C-type lectin domain family 12, member A		C	CYS/ARG,CYS/ARG,	0,4406		0,0,2203	207.0	192.0	197.0		148,118,	2.7	0.0	12	dbSNP_134	197	2,8598	1.2+/-3.3	0,2,4298	yes	missense,missense,intron	CLEC12A	NM_001207010.1,NM_138337.5,NM_201623.3	180,180,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,	50/276,40/266,	10131591	2,13004	2203	4300	6503	SO:0001583	missense	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10131591C>T	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.118C>T	12.37:g.10131591C>T	ENSP00000302804:p.Arg40Cys					CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C|CLEC12A_ENST00000350667.4_Intron|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C	p.R40C	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN			2	300	+			40					B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	c.118C>T	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.584844	0.28268	0.0	2.33E-4	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319	T;T;T;T	0.09163	4.41;3.01;4.43;3.88	4.58	2.69	0.31865	.	.	.	.	.	T	0.13586	0.0329	M	0.84219	2.685	0.19945	N	0.999945	B;B	0.33549	0.293;0.417	B;B	0.25759	0.029;0.063	T	0.15178	-1.0446	9	0.44086	T	0.13	.	6.7049	0.23244	0.0:0.718:0.1808:0.1011	.	40;50	Q5QGZ9;Q5QGZ9-1	CL12A_HUMAN;.	C	50;40;40;40	ENSP00000347916:R50C;ENSP00000379764:R40C;ENSP00000302804:R40C;ENSP00000405244:R40C	ENSP00000302804:R40C	R	+	1	0	CLEC12A	10022858	0.025000	0.19082	0.018000	0.16275	0.008000	0.06430	0.136000	0.15974	0.591000	0.29711	0.650000	0.86243	CGT		0.433	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	NM_138337		39	62	0	0	0	1	0	39	62				
TMC5	79838	broad.mit.edu	37	16	19451785	19451785	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr16:19451785G>T	ENST00000396229.2	+	3	1174	c.425G>T	c.(424-426)aGc>aTc	p.S142I	TMC5_ENST00000542583.2_Missense_Mutation_p.S142I|TMC5_ENST00000381414.4_Missense_Mutation_p.S142I|TMC5_ENST00000541464.1_Missense_Mutation_p.S142I	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	142	Poly-Ser.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCTCCAGCAGCAGTGGAAAC	0.498																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(424-426)aGc>aTc		transmembrane channel-like 5							199.0	197.0	198.0					16																	19451785		1964	4161	6125	SO:0001583	missense	79838					integral to membrane		g.chr16:19451785G>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.425G>T	16.37:g.19451785G>T	ENSP00000379531:p.Ser142Ile					TMC5_ENST00000542583.2_Missense_Mutation_p.S142I|TMC5_ENST00000541464.1_Missense_Mutation_p.S142I|TMC5_ENST00000381414.4_Missense_Mutation_p.S142I	p.S142I	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			3	1174	+			142			Poly-Ser.		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.425G>T	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	5.453	0.268703	0.10349	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.68903	-0.26;-0.13;-0.36;-0.36	5.13	-0.822	0.10819	.	208.034000	0.00166	N	0.000000	T	0.63698	0.2533	M	0.76328	2.33	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.004	B;B;B	0.14023	0.01;0.002;0.01	T	0.44467	-0.9326	10	0.72032	D	0.01	-7.6468	0.7911	0.01057	0.291:0.1628:0.3793:0.1669	.	142;142;142	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	I	142	ENSP00000441227:S142I;ENSP00000370822:S142I;ENSP00000379531:S142I;ENSP00000446274:S142I	ENSP00000370822:S142I	S	+	2	0	TMC5	19359286	0.000000	0.05858	0.001000	0.08648	0.052000	0.14988	0.171000	0.16685	0.034000	0.15491	0.591000	0.81541	AGC		0.498	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		5	324	1	0	0.014758	1	0.014758	5	324				
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	T	G	rs559230605	byFrequency	TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46G			Q9P0N5	TM216_HUMAN	transmembrane protein 216	46					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													T|||	429	0.0856629	0.1248	0.0965	5008	,	,		21622	0.0665		0.0666	False		,,,				2504	0.0644					ENST00000515837.2																			3	Substitution - coding silent(3)	p.G46G(3)	prostate(2)|endometrium(1)	endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						c.e3-1		transmembrane protein 216							84.0	93.0	90.0					11																	61161357		1966	4155	6121	SO:0001630	splice_region_variant	51259					integral to membrane		g.chr11:61161357T>G		CCDS53640.1	11q13.1	2014-09-17			ENSG00000187049	ENSG00000187049			25018	protein-coding gene	gene with protein product		613277	"""cerebello-oculo-renal syndrome 2"", ""Meckel syndrome, type 2"""	CORS2, MKS2		11042152, 20036350, 20512146	Standard	NM_016499		Approved	MGC13379, HSPC244, JBTS2	uc021qkf.1	Q9P0N5		ENST00000515837.2:c.137-1T>G	11.37:g.61161357T>G						TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice	p.G46_splice			Q9P0N5	TM216_HUMAN			3	1083	+			39					A8MZ23|B7Z8N1	Splice_Site	SNP	ENST00000515837.2	37	c.136_splice	CCDS53640.1																																																																																				0.438	TMEM216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398430.1	NM_016499	Silent	7	27	0	0	0	1	0	7	27				
ABR	29	broad.mit.edu	37	17	915191	915191	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:915191G>A	ENST00000302538.5	-	19	2142	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*	ABR_ENST00000536794.2_Nonsense_Mutation_p.Q448*|ABR_ENST00000544583.2_Nonsense_Mutation_p.Q620*|ABR_ENST00000574437.1_Nonsense_Mutation_p.Q620*|ABR_ENST00000572441.1_Nonsense_Mutation_p.Q117*|ABR_ENST00000291107.2_Nonsense_Mutation_p.Q629*|ABR_ENST00000543210.2_Nonsense_Mutation_p.Q117*	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	666	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCCACACACTGCCGGACGATG	0.652																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1858-1860)Cag>Tag		active BCR-related							196.0	149.0	165.0					17																	915191		2203	4300	6503	SO:0001587	stop_gained	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:915191G>A	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1996C>T	17.37:g.915191G>A	ENSP00000303909:p.Gln666*					ABR_ENST00000302538.5_Nonsense_Mutation_p.Q666*|ABR_ENST00000291107.2_Nonsense_Mutation_p.Q629*|ABR_ENST00000574437.1_Nonsense_Mutation_p.Q620*|ABR_ENST00000572441.1_Nonsense_Mutation_p.Q117*|ABR_ENST00000543210.2_Nonsense_Mutation_p.Q117*|ABR_ENST00000536794.2_Nonsense_Mutation_p.Q448*	p.Q620*	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	19	2457	-			666					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Nonsense_Mutation	SNP	ENST00000302538.5	37	c.1858C>T	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	G	41	8.793993	0.98956	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794;ENST00000543210	.	.	.	5.97	5.97	0.96955	.	0.061224	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.057	0.93069	0.0:0.0:1.0:0.0	.	.	.	.	X	666;620;629;448;117	.	ENSP00000291107:Q629X	Q	-	1	0	ABR	861941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.851000	0.98039	0.644000	0.83932	CAG		0.652	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			48	73	0	0	0	1	0	48	73				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	69	0	0	0	1	0	7	69				
CHRNA5	1138	broad.mit.edu	37	15	78882881	78882881	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr15:78882881G>A	ENST00000299565.5	+	5	1348	c.1148G>A	c.(1147-1149)gGt>gAt	p.G383D	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	383					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	ACTGAGAGTGGTAGTGGACCA	0.438																																						ENST00000299565.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						c.(1147-1149)gGt>gAt		cholinergic receptor, nicotinic, alpha 5 (neuronal)							94.0	88.0	90.0					15																	78882881		2196	4293	6489	SO:0001583	missense	1138				behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78882881G>A		CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.1148G>A	15.37:g.78882881G>A	ENSP00000299565:p.Gly383Asp					RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	p.G383D	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN			5	1348	+			383					Q15824|Q99554	Missense_Mutation	SNP	ENST00000299565.5	37	c.1148G>A	CCDS10304.1	.	.	.	.	.	.	.	.	.	.	G	9.173	1.021666	0.19433	.	.	ENSG00000169684	ENST00000299565	T	0.70282	-0.47	4.79	-6.89	0.01660	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.556823	0.18707	N	0.133417	T	0.38692	0.1050	N	0.21448	0.665	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41106	-0.9527	10	0.11182	T	0.66	.	0.8921	0.01256	0.1899:0.2398:0.2814:0.289	.	383	P30532	ACHA5_HUMAN	D	383	ENSP00000299565:G383D	ENSP00000299565:G383D	G	+	2	0	CHRNA5	76669936	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.359000	0.07632	-0.989000	0.03485	0.558000	0.71614	GGT		0.438	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1			32	56	0	0	0	1	0	32	56				
GRIPAP1	56850	broad.mit.edu	37	X	48831681	48831681	+	Silent	SNP	C	C	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:48831681C>G	ENST00000376441.1	-	25	2353	c.2319G>C	c.(2317-2319)ctG>ctC	p.L773L	GRIPAP1_ENST00000376444.3_Silent_p.L728L|GRIPAP1_ENST00000473581.1_5'Flank|GRIPAP1_ENST00000376425.3_Silent_p.L742L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	773						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGACGCTGCCCAGCCCGCTGC	0.607																																						ENST00000376441.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(2317-2319)ctG>ctC		GRIP1 associated protein 1							46.0	37.0	40.0					X																	48831681		2203	4300	6503	SO:0001819	synonymous_variant	56850					early endosome		g.chrX:48831681C>G	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.2319G>C	X.37:g.48831681C>G						GRIPAP1_ENST00000376444.3_Silent_p.L728L|GRIPAP1_ENST00000376425.3_Silent_p.L742L	p.L773L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN			25	2353	-			773					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Silent	SNP	ENST00000376441.1	37	c.2319G>C	CCDS35248.1																																																																																				0.607	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		22	33	0	0	0	1	0	22	33				
GOLGA6L3	100133220	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C	rs62009901		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498																																						ENST00000557886.1																			12	Substitution - coding silent(12)	p.V159V(12)	kidney(6)|endometrium(4)|prostate(2)	endometrium(6)|kidney(5)|prostate(1)	12						c.(475-477)gtA>gtG																																						SO:0001819	synonymous_variant	0							g.chr15:83014106T>C																												ENST00000557886.1:c.477A>G	15.37:g.83014106T>C							p.V159V							6	576	-									Silent	SNP	ENST00000557886.1	37	c.477A>G																																																																																					0.498	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1			4	4	0	0	0	1	0	4	4				
PCSK5	5125	broad.mit.edu	37	9	78790138	78790138	+	Intron	SNP	A	A	G	rs11999771	byFrequency	TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr9:78790138A>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Missense_Mutation_p.K665E	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						gaatggaatgaaatggaatgg	0.423																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1993-1995)Aaa>Gaa		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790138A>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+93A>G	9.37:g.78790138A>G						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.K665E			Q92824	PCSK5_HUMAN			14	2505	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1993A>G	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	G	6.519	0.463968	0.12402	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.59906	0.23	.	.	.	.	.	.	.	.	T	0.41488	0.1161	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.01281	0.0	T	0.33828	-0.9853	6	0.62326	D	0.03	.	.	.	.	rs11999771	665	B1AMG5	.	E	665	ENSP00000365958:K665E	ENSP00000365958:K665E	K	+	1	0	PCSK5	77979958	0.001000	0.12720	0.042000	0.18584	0.045000	0.14185	-0.540000	0.06106	0.000000	0.14550	0.000000	0.15137	AAA		0.423	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	31	0	0	0	1	0	3	31				
OR2M3	127062	broad.mit.edu	37	1	248366698	248366698	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:248366698C>G	ENST00000456743.1	+	1	367	c.329C>G	c.(328-330)tCt>tGt	p.S110C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGCTTGGCTCTGAGTGCTTT	0.458																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(328-330)tCt>tGt		olfactory receptor, family 2, subfamily M, member 3							250.0	255.0	254.0					1																	248366698		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366698C>G		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.329C>G	1.37:g.248366698C>G	ENSP00000389625:p.Ser110Cys						p.S110C	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	367	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		110					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.329C>G	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	5.279	0.236872	0.10023	.	.	ENSG00000228198	ENST00000456743	T	0.01560	4.77	2.44	-4.88	0.03113	GPCR, rhodopsin-like superfamily (1);	0.554792	0.13599	N	0.375981	T	0.01695	0.0054	L	0.45352	1.415	0.09310	N	1	B	0.06786	0.001	B	0.15484	0.013	T	0.38067	-0.9678	10	0.66056	D	0.02	.	6.77	0.23589	0.0:0.4307:0.3871:0.1822	.	110	Q8NG83	OR2M3_HUMAN	C	110	ENSP00000389625:S110C	ENSP00000389625:S110C	S	+	2	0	OR2M3	246433321	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.763000	0.00784	-1.079000	0.03113	-0.491000	0.04670	TCT		0.458	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		22	286	0	0	0	1	0	22	286				
HOXA7	3204	broad.mit.edu	37	7	27196035	27196035	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr7:27196035C>T	ENST00000242159.3	-	1	263	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	HOXA-AS3_ENST00000518947.2_RNA|RP1-170O19.21_ENST00000602610.1_lincRNA|HOXA7_ENST00000523796.2_5'Flank	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	44					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						AAGGCGCCGGCGCCCGCCCCG	0.607																																						ENST00000242159.3																			0				endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						c.(130-132)Gcc>Acc		homeobox A7							33.0	46.0	42.0					7																	27196035		2188	4295	6483	SO:0001583	missense	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27196035C>T		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.130G>A	7.37:g.27196035C>T	ENSP00000242159:p.Ala44Thr						p.A44T	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN			1	263	-			44					A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	c.130G>A	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008030	0.35415	.	.	ENSG00000122592	ENST00000242159	T	0.29917	1.55	5.32	4.44	0.53790	.	0.254677	0.39083	N	0.001473	T	0.18215	0.0437	L	0.31294	0.92	0.46586	D	0.999115	B	0.30605	0.287	B	0.13407	0.009	T	0.06499	-1.0823	10	0.41790	T	0.15	.	7.139	0.25546	0.0:0.7092:0.1414:0.1494	.	44	P31268	HXA7_HUMAN	T	44	ENSP00000242159:A44T	ENSP00000242159:A44T	A	-	1	0	HOXA7	27162560	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	1.686000	0.37669	1.388000	0.46506	-0.258000	0.10820	GCC		0.607	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1			23	143	0	0	0	1	0	23	143				
SERPINA7	6906	broad.mit.edu	37	X	105280487	105280487	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:105280487A>C	ENST00000327674.4	-	1	898	c.563T>G	c.(562-564)cTa>cGa	p.L188R	SERPINA7_ENST00000372563.1_Missense_Mutation_p.L188R|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	188					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCTTGAATTAGACCCACAAC	0.413																																						ENST00000327674.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24						c.(562-564)cTa>cGa		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	Levothyroxine(DB00451)|Liothyronine(DB00279)						163.0	144.0	151.0					X																	105280487		2203	4300	6503	SO:0001583	missense	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105280487A>C	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.563T>G	X.37:g.105280487A>C	ENSP00000329374:p.Leu188Arg					SERPINA7_ENST00000372563.1_Missense_Mutation_p.L188R	p.L188R			P05543	THBG_HUMAN			1	898	-			188					D3DUX1	Missense_Mutation	SNP	ENST00000327674.4	37	c.563T>G	CCDS14518.1	.	.	.	.	.	.	.	.	.	.	A	8.101	0.776713	0.16120	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.87966	-2.32;-2.32	4.7	4.7	0.59300	Serpin domain (3);	0.000000	0.56097	D	0.000023	D	0.95268	0.8465	H	0.96604	3.85	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89423	0.3711	10	0.87932	D	0	.	11.2413	0.48970	1.0:0.0:0.0:0.0	.	188	P05543	THBG_HUMAN	R	188	ENSP00000329374:L188R;ENSP00000361644:L188R	ENSP00000329374:L188R	L	-	2	0	SERPINA7	105167143	0.523000	0.26274	0.008000	0.14137	0.080000	0.17528	3.726000	0.54977	1.855000	0.53841	0.481000	0.45027	CTA		0.413	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		55	108	0	0	0	1	0	55	108				
MPPED1	758	broad.mit.edu	37	22	43898541	43898541	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr22:43898541C>A	ENST00000417669.2	+	6	1210	c.766C>A	c.(766-768)Ccc>Acc	p.P256T	MPPED1_ENST00000414469.2_Missense_Mutation_p.P150T|MPPED1_ENST00000538182.1_Missense_Mutation_p.P289T|MPPED1_ENST00000439548.1_Missense_Mutation_p.P98T|MPPED1_ENST00000443721.1_Missense_Mutation_p.P256T|MPPED1_ENST00000542779.1_Missense_Mutation_p.P256T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	256							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGACTGGGTCCCCAAGAAGAT	0.632																																						ENST00000417669.1																			0				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13						c.(766-768)Ccc>Acc		metallophosphoesterase domain containing 1							64.0	76.0	72.0					22																	43898541		2177	4293	6470	SO:0001583	missense	758						hydrolase activity	g.chr22:43898541C>A	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.766C>A	22.37:g.43898541C>A	ENSP00000388137:p.Pro256Thr					MPPED1_ENST00000443721.1_Missense_Mutation_p.P256T|MPPED1_ENST00000542779.1_Missense_Mutation_p.P256T|MPPED1_ENST00000439548.1_Missense_Mutation_p.P98T|MPPED1_ENST00000414469.2_Missense_Mutation_p.P150T|MPPED1_ENST00000538182.1_Missense_Mutation_p.P289T	p.P256T			O15442	MPPD1_HUMAN			6	1210	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	256					A8K159|B7Z2S9|Q8N361	Missense_Mutation	SNP	ENST00000417669.2	37	c.766C>A	CCDS46723.1	.	.	.	.	.	.	.	.	.	.	C	7.915	0.737425	0.15574	.	.	ENSG00000186732	ENST00000417669;ENST00000443721;ENST00000545165;ENST00000414469;ENST00000439548;ENST00000542779;ENST00000538182	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	4.27	4.27	0.50696	Metallophosphoesterase domain (1);	.	.	.	.	T	0.27832	0.0685	N	0.10733	0.035	0.80722	D	1	P;B	0.45634	0.863;0.021	B;B	0.43658	0.426;0.011	T	0.08513	-1.0718	9	0.20046	T	0.44	.	17.1345	0.86735	0.0:1.0:0.0:0.0	.	289;256	B7Z2S9;O15442	.;MPPD1_HUMAN	T	256;256;234;150;98;256;289	ENSP00000388137:P256T;ENSP00000400686:P256T;ENSP00000388245:P150T;ENSP00000390379:P98T;ENSP00000444532:P256T;ENSP00000438335:P289T	ENSP00000388245:P150T	P	+	1	0	MPPED1	42229870	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	7.090000	0.76916	2.126000	0.65437	0.399000	0.26434	CCC		0.632	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		16	137	1	0	1.37285e-15	1	1.45244e-15	16	137				
SYNE2	23224	broad.mit.edu	37	14	64683079	64683079	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr14:64683079T>C	ENST00000344113.4	+	107	19659	c.19447T>C	c.(19447-19449)Tcc>Ccc	p.S6483P	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.S2868P|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2868P|SYNE2_ENST00000555002.1_Missense_Mutation_p.S3140P|SYNE2_ENST00000441438.2_Missense_Mutation_p.S14P|SYNE2_ENST00000458046.2_Missense_Mutation_p.S140P|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6506P|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6425P|SYNE2_ENST00000554805.1_Missense_Mutation_p.S266P|SYNE2_ENST00000555022.1_Missense_Mutation_p.S361P	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6483					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCCCCTGCGTCCAGCACCCC	0.498																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8602-8604)Tcc>Ccc		spectrin repeat containing, nuclear envelope 2							140.0	120.0	127.0					14																	64683079		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64683079T>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19447T>C	14.37:g.64683079T>C	ENSP00000341781:p.Ser6483Pro					SYNE2_ENST00000555022.1_Missense_Mutation_p.S361P|SYNE2_ENST00000555002.1_Missense_Mutation_p.S3140P|SYNE2_ENST00000458046.2_Missense_Mutation_p.S140P|SYNE2_ENST00000441438.2_Missense_Mutation_p.S14P|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6425P|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6506P|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2868P|SYNE2_ENST00000344113.4_Missense_Mutation_p.S6483P|SYNE2_ENST00000554805.1_Missense_Mutation_p.S266P	p.S2868P			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	108	19746	+			6483					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8602T>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	6.825	0.521373	0.13005	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.57907	0.77;4.05;0.76;0.37;4.12;4.05;3.71;3.23;2.92;2.64	4.99	-1.18	0.09617	.	0.657623	0.12411	N	0.471297	T	0.52837	0.1759	L	0.51422	1.61	0.42139	D	0.991503	D;B;D;D;B;P;P;D	0.59357	0.974;0.082;0.985;0.973;0.005;0.828;0.612;0.973	P;B;P;P;B;B;B;P	0.56916	0.548;0.015;0.809;0.735;0.013;0.299;0.222;0.735	T	0.54754	-0.8246	10	0.40728	T	0.16	.	4.5854	0.12280	0.2939:0.0:0.3658:0.3403	.	140;2868;14;140;871;6425;6483;6506	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	P	6506;2868;6483;6425;6431;3140;2868;361;266;140;14	ENSP00000350719:S6506P;ENSP00000349969:S2868P;ENSP00000341781:S6483P;ENSP00000452570:S6425P;ENSP00000450831:S3140P;ENSP00000378249:S2868P;ENSP00000451009:S361P;ENSP00000450605:S266P;ENSP00000391937:S140P;ENSP00000396794:S14P	ENSP00000261678:S6431P	S	+	1	0	SYNE2	63752832	0.994000	0.37717	0.226000	0.23910	0.366000	0.29705	0.820000	0.27323	-0.064000	0.13043	0.533000	0.62120	TCC		0.498	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		34	46	0	0	0	1	0	34	46				
SRRM4	84530	broad.mit.edu	37	12	119592158	119592158	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:119592158C>T	ENST00000267260.4	+	12	1890	c.1502C>T	c.(1501-1503)cCg>cTg	p.P501L		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	501	Arg-rich.|Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGAGACTCCCCGAGCCACCTG	0.632																																						ENST00000267260.4																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(1501-1503)cCg>cTg		serine/arginine repetitive matrix 4							15.0	20.0	18.0					12																	119592158		1850	4084	5934	SO:0001583	missense	84530				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	g.chr12:119592158C>T	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.1502C>T	12.37:g.119592158C>T	ENSP00000267260:p.Pro501Leu						p.P501L	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN			12	1890	+			501			Arg-rich.|Ser-rich.		A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	c.1502C>T	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	34	5.393584	0.96009	.	.	ENSG00000139767	ENST00000267260	T	0.77358	-1.09	5.34	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	L	0.59436	1.845	0.80722	D	1	P	0.37061	0.58	B	0.31245	0.126	T	0.70022	-0.4986	9	.	.	.	-17.5405	14.0005	0.64431	0.0:0.9267:0.0:0.0733	.	501	A7MD48	SRRM4_HUMAN	L	501	ENSP00000267260:P501L	.	P	+	2	0	SRRM4	118076541	1.000000	0.71417	0.911000	0.35937	0.965000	0.64279	7.296000	0.78790	1.256000	0.44068	0.655000	0.94253	CCG		0.632	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286		17	19	0	0	0	1	0	17	19				
DRP2	1821	broad.mit.edu	37	X	100490939	100490939	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:100490939G>A	ENST00000395209.3	+	4	735	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DRP2_ENST00000402866.1_Missense_Mutation_p.A70T|DRP2_ENST00000538510.1_Missense_Mutation_p.A70T|DRP2_ENST00000541709.1_5'UTR	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	70					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTCTGTTGGTGCCTCTGGACC	0.517																																						ENST00000395209.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(208-210)Gcc>Acc		dystrophin related protein 2							179.0	144.0	156.0					X																	100490939		2203	4300	6503	SO:0001583	missense	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100490939G>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.208G>A	X.37:g.100490939G>A	ENSP00000378635:p.Ala70Thr					DRP2_ENST00000541709.1_5'UTR|DRP2_ENST00000402866.1_Missense_Mutation_p.A70T|DRP2_ENST00000538510.1_Missense_Mutation_p.A70T	p.A70T	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			4	735	+			70					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	c.208G>A	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841892	0.51057	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000538510	T;T;T	0.05786	3.39;3.39;3.39	6.08	4.33	0.51752	.	0.106984	0.41097	N	0.000957	T	0.05868	0.0153	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.34775	-0.9815	10	0.20046	T	0.44	-2.0271	10.6803	0.45811	0.1508:0.0:0.8492:0.0	.	70	Q13474	DRP2_HUMAN	T	70	ENSP00000385038:A70T;ENSP00000378635:A70T;ENSP00000441051:A70T	ENSP00000362007:A70T	A	+	1	0	DRP2	100377595	1.000000	0.71417	0.577000	0.28562	0.471000	0.32888	3.245000	0.51407	0.692000	0.31613	-0.191000	0.12829	GCC		0.517	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		95	185	0	0	0	1	0	95	185				
SEC61A1	29927	broad.mit.edu	37	3	127786281	127786281	+	Silent	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr3:127786281C>T	ENST00000243253.3	+	10	1177	c.993C>T	c.(991-993)ggC>ggT	p.G331G	SEC61A1_ENST00000464451.1_Silent_p.G337G|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000424880.2_Silent_p.G211G|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	331					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)|cell growth (GO:0016049)|endoplasmic reticulum organization (GO:0007029)|posttranslational protein targeting to membrane (GO:0006620)|protein targeting to ER (GO:0045047)|response to interferon-gamma (GO:0034341)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTTCTGGGGGCCCAGCACGTG	0.483																																						ENST00000243253.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						c.(991-993)ggC>ggT		Sec61 alpha 1 subunit (S. cerevisiae)							133.0	132.0	132.0					3																	127786281		2203	4300	6503	SO:0001819	synonymous_variant	29927				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	g.chr3:127786281C>T	AF077032	CCDS3046.1	3q21.3	2008-02-05			ENSG00000058262	ENSG00000058262			18276	protein-coding gene	gene with protein product		609213					Standard	NM_013336		Approved		uc003ekb.3	P61619	OTTHUMG00000159624	ENST00000243253.3:c.993C>T	3.37:g.127786281C>T						RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Silent_p.G337G|SEC61A1_ENST00000424880.2_Silent_p.G211G|SEC61A1_ENST00000483956.1_3'UTR	p.G331G	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN			10	1177	+			331					P38378|P57726|Q5JPF8|Q8N0Z4|Q8N3U3|Q8NC71|Q9BU16|Q9Y2R3	Silent	SNP	ENST00000243253.3	37	c.993C>T	CCDS3046.1																																																																																				0.483	SEC61A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356541.2	NM_013336		51	97	0	0	0	1	0	51	97				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			14	43	0	0	0	1	0	14	43				
PHYHIP	9796	broad.mit.edu	37	8	22081799	22081799	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:22081799C>T	ENST00000321613.3	-	5	854	c.398G>A	c.(397-399)cGc>cAc	p.R133H	PHYHIP_ENST00000454243.2_Missense_Mutation_p.R133H	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	133										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GCGGAGCATGCGGCCTGCGAT	0.622																																						ENST00000454243.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10						c.(397-399)cGc>cAc		phytanoyl-CoA 2-hydroxylase interacting protein							43.0	59.0	53.0					8																	22081799		2121	4247	6368	SO:0001583	missense	9796							g.chr8:22081799C>T	D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.398G>A	8.37:g.22081799C>T	ENSP00000320017:p.Arg133His					PHYHIP_ENST00000321613.3_Missense_Mutation_p.R133H	p.R133H	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	4	972	-			133					D3DSR1|Q8N4I9	Missense_Mutation	SNP	ENST00000321613.3	37	c.398G>A	CCDS43723.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567392	0.86439	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000523252	T;T	0.34072	1.38;1.38	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	M	0.74881	2.28	0.52501	D	0.999959	P	0.50369	0.934	B	0.42653	0.394	T	0.53927	-0.8369	10	0.66056	D	0.02	-39.1941	18.0725	0.89415	0.0:1.0:0.0:0.0	.	133	Q92561	PHYIP_HUMAN	H	133;133;85	ENSP00000320017:R133H;ENSP00000415491:R133H	ENSP00000320017:R133H	R	-	2	0	PHYHIP	22137744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	2.562000	0.86427	0.549000	0.68633	CGC		0.622	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000375388.1	NM_014759		4	72	0	0	0	1	0	4	72				
FAM154A	158297	broad.mit.edu	37	9	18928550	18928550	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr9:18928550C>T	ENST00000380534.4	-	4	1204	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	FAM154A_ENST00000542071.1_Missense_Mutation_p.A117T|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	309										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GTGTAATGGGCCTGCACTGTT	0.547																																						ENST00000380534.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26						c.(925-927)Gcc>Acc		family with sequence similarity 154, member A							100.0	90.0	94.0					9																	18928550		2203	4300	6503	SO:0001583	missense	158297							g.chr9:18928550C>T	BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.925G>A	9.37:g.18928550C>T	ENSP00000369907:p.Ala309Thr					FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.A117T	p.A309T	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN		GBM - Glioblastoma multiforme(50;6.53e-16)	4	1204	-			309					Q5VY58	Missense_Mutation	SNP	ENST00000380534.4	37	c.925G>A	CCDS6487.1	.	.	.	.	.	.	.	.	.	.	C	0.739	-0.777152	0.02929	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.22539	2.72;1.95	5.09	-3.28	0.05033	.	0.886390	0.09757	N	0.759807	T	0.10035	0.0246	N	0.22421	0.69	0.21861	N	0.999502	B	0.12013	0.005	B	0.16289	0.015	T	0.39781	-0.9597	10	0.13853	T	0.58	-4.8142	4.6369	0.12528	0.6037:0.1572:0.0994:0.1396	.	309	Q8IYX7	F154A_HUMAN	T	309;117	ENSP00000369907:A309T;ENSP00000438823:A117T	ENSP00000369907:A309T	A	-	1	0	FAM154A	18918550	0.002000	0.14202	0.578000	0.28575	0.675000	0.39556	-0.326000	0.07965	-0.933000	0.03737	-0.175000	0.13238	GCC		0.547	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051811.1	NM_153707		46	58	0	0	0	1	0	46	58				
TP53	7157	broad.mit.edu	37	17	7577157	7577157	+	Splice_Site	SNP	T	T	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:7577157T>G	ENST00000269305.4	-	8	972		c.e8-2		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.E258fs*71(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGATTACCACTACTCAGGATA	0.512		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		20	Unknown(11)|Whole gene deletion(8)|Deletion - Frameshift(1)	p.?(11)|p.0?(8)|p.E258fs*71(1)	lung(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|urinary_tract(1)|oesophagus(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e8-2	Other conserved DNA damage response genes	tumor protein p53							38.0	35.0	36.0					17																	7577157		2203	4299	6502	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577157T>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.783-2A>C	17.37:g.7577157T>G		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	915	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948067	0.34377	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4575	0.50191	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517882	1.000000	0.71417	0.918000	0.36340	0.065000	0.16274	5.431000	0.66507	2.029000	0.59856	0.379000	0.24179	.		0.512	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	11	13	0	0	0	1	0	11	13				
RGAG4	340526	broad.mit.edu	37	X	71350423	71350423	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:71350423C>T	ENST00000545866.1	-	1	1335	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.R323Q	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	323										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GATGATATTTCGAACTCCAGG	0.493																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(967-969)cGa>cAa		retrotransposon gag domain containing 4							96.0	90.0	92.0					X																	71350423		1926	4133	6059	SO:0001583	missense	340526							g.chrX:71350423C>T	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.968G>A	X.37:g.71350423C>T	ENSP00000441366:p.Arg323Gln					RGAG4_ENST00000479991.1_Missense_Mutation_p.R323Q|NHSL2_ENST00000540800.1_Intron	p.R323Q			Q5HYW3	RGAG4_HUMAN			1	1335	-	Renal(35;0.156)		323					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.968G>A	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024165	0.54683	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.11712	2.75;2.75	4.13	1.21	0.21127	.	.	.	.	.	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.08055	0.003	T	0.44907	-0.9297	8	.	.	.	.	2.9195	0.05764	0.2165:0.5335:0.0:0.25	.	323	Q5HYW3	RGAG4_HUMAN	Q	323	ENSP00000441366:R323Q;ENSP00000418667:R323Q	.	R	-	2	0	RGAG4	71267148	0.000000	0.05858	0.012000	0.15200	0.866000	0.49608	-0.164000	0.09983	0.109000	0.17891	0.600000	0.82982	CGA		0.493	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		59	111	0	0	0	1	0	59	111				
KIAA1109	84162	broad.mit.edu	37	4	123271073	123271073	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:123271073A>G	ENST00000264501.4	+	80	14066	c.13693A>G	c.(13693-13695)Acc>Gcc	p.T4565A	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T4565A			Q2LD37	K1109_HUMAN	KIAA1109	4565					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATCAAGGTCAACCACACCAGA	0.393																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(13693-13695)Acc>Gcc		KIAA1109							204.0	193.0	197.0					4																	123271073		1823	4087	5910	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123271073A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.13693A>G	4.37:g.123271073A>G	ENSP00000264501:p.Thr4565Ala					KIAA1109_ENST00000388738.3_Missense_Mutation_p.T4565A	p.T4565A			Q2LD37	K1109_HUMAN			80	14066	+			4565					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.13693A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421012	0.83559	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755	T;T;T	0.58652	0.32;0.32;0.32	5.85	5.85	0.93711	Fragile site-associated protein, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76227	0.3958	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.79108	0.98;0.992	T	0.79198	-0.1902	10	0.87932	D	0	.	16.2271	0.82306	1.0:0.0:0.0:0.0	.	4564;4565	Q2LD37-4;Q2LD37	.;K1109_HUMAN	A	4565;4565;1234;166	ENSP00000264501:T4565A;ENSP00000373390:T4565A;ENSP00000410874:T1234A	ENSP00000264501:T4565A	T	+	1	0	KIAA1109	123490523	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.339000	0.96797	2.234000	0.73211	0.460000	0.39030	ACC		0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	156	0	0	0	1	0	4	156				
ZNF81	347344	broad.mit.edu	37	X	47774744	47774744	+	Silent	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:47774744T>C	ENST00000376954.1	+	6	1067	c.699T>C	c.(697-699)taT>taC	p.Y233Y	ZNF81_ENST00000338637.7_Silent_p.Y233Y			P51508	ZNF81_HUMAN	zinc finger protein 81	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCTTCTTATAGTCACCACG	0.363																																						ENST00000376954.1																			0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(697-699)taT>taC		zinc finger protein 81							60.0	58.0	59.0					X																	47774744		1902	4110	6012	SO:0001819	synonymous_variant	347344					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47774744T>C	AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.699T>C	X.37:g.47774744T>C						ZNF81_ENST00000338637.7_Silent_p.Y233Y	p.Y233Y			P51508	ZNF81_HUMAN			6	1067	+		all_lung(315;0.0973)	233					Q6RX22|Q96QH6	Silent	SNP	ENST00000376954.1	37	c.699T>C	CCDS43933.1																																																																																				0.363	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137		9	79	0	0	0	1	0	9	79				
ARHGAP36	158763	broad.mit.edu	37	X	130217833	130217833	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:130217833C>T	ENST00000276211.5	+	4	790	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R137C|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R13C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	149	Arg-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGCTGCGGGCCGTCGTCGGGG	0.622																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(445-447)Cgt>Tgt		Rho GTPase activating protein 36							99.0	95.0	96.0					X																	130217833		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130217833C>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.445C>T	X.37:g.130217833C>T	ENSP00000276211:p.Arg149Cys					ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R13C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R137C	p.R149C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			4	790	+			149			Arg-rich.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.445C>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449878	0.43531	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T	0.15834	2.82;2.82;2.83;2.39	4.3	3.43	0.39272	.	0.151822	0.32081	N	0.006620	T	0.23451	0.0567	N	0.19112	0.55	0.38330	D	0.943772	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.982	T	0.08576	-1.0715	10	0.72032	D	0.01	.	9.086	0.36581	0.0:0.7823:0.2177:0.0	.	118;137;149	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	C	149;137;101;118;13	ENSP00000276211:R149C;ENSP00000359960:R137C;ENSP00000408515:R118C;ENSP00000359959:R13C	ENSP00000276211:R149C	R	+	1	0	ARHGAP36	130045514	0.561000	0.26578	0.969000	0.41365	0.157000	0.22087	0.451000	0.21779	1.141000	0.42275	0.600000	0.82982	CGT		0.622	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		15	240	0	0	0	1	0	15	240				
WDR93	56964	broad.mit.edu	37	15	90265288	90265288	+	Silent	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr15:90265288T>C	ENST00000268130.7	+	8	899	c.798T>C	c.(796-798)gaT>gaC	p.D266D	WDR93_ENST00000444934.2_5'UTR|WDR93_ENST00000560294.1_Silent_p.D266D	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	266					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			tgttttAGGATGCAAATGTTA	0.318																																						ENST00000268130.7																			0				NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33						c.(796-798)gaT>gaC		WD repeat domain 93							98.0	91.0	93.0					15																	90265288		2199	4297	6496	SO:0001819	synonymous_variant	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90265288T>C		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.798T>C	15.37:g.90265288T>C						WDR93_ENST00000444934.2_5'UTR|WDR93_ENST00000560294.1_Silent_p.D266D	p.D266D	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		8	899	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		266					Q8N7Y8|Q9NP89	Silent	SNP	ENST00000268130.7	37	c.798T>C	CCDS32326.1																																																																																				0.318	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1	NM_020212		3	46	0	0	0	1	0	3	46				
TRIM16	10626	broad.mit.edu	37	17	15532459	15532459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:15532459G>A	ENST00000578237.1	-	11	2020	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	TRIM16_ENST00000416464.2_Nonsense_Mutation_p.Q259*|TRIM16_ENST00000577886.1_Nonsense_Mutation_p.Q173*|RP11-385D13.1_ENST00000455584.2_Nonsense_Mutation_p.Q389*|TRIM16_ENST00000579219.1_Silent_p.C85C|TRIM16_ENST00000336708.7_Nonsense_Mutation_p.Q389*			O95361	TRI16_HUMAN	tripartite motif containing 16	389	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription, DNA-templated (GO:0045893)|response to growth hormone (GO:0060416)|response to organophosphorus (GO:0046683)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|PML body (GO:0016605)	DNA binding (GO:0003677)|interleukin-1 binding (GO:0019966)|NACHT domain binding (GO:0032089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		TTCTCCTCCTGCAGCCGGAGA	0.602																																						ENST00000455584.2																			0											c.(1165-1167)Cag>Tag									57.0	54.0	55.0					17																	15532459		2203	4300	6503	SO:0001587	stop_gained	0							g.chr17:15532459G>A	AF096870	CCDS11171.1	17p11.2	2011-04-20	2011-01-25		ENSG00000221926	ENSG00000221926		"""Tripartite motif containing / Tripartite motif containing"""	17241	protein-coding gene	gene with protein product	"""estrogen-responsive B box protein"""	609505	"""tripartite motif-containing 16"""			11331580	Standard	NM_006470		Approved	EBBP	uc002gor.1	O95361	OTTHUMG00000059067	ENST00000578237.1:c.1165C>T	17.37:g.15532459G>A	ENSP00000463188:p.Gln389*					TRIM16_ENST00000416464.2_Nonsense_Mutation_p.Q259*|TRIM16_ENST00000336708.7_Nonsense_Mutation_p.Q389*|TRIM16_ENST00000579219.1_Silent_p.C85C|TRIM16_ENST00000577886.1_Nonsense_Mutation_p.Q173*|TRIM16_ENST00000578237.1_Nonsense_Mutation_p.Q389*	p.Q389*							6	1208	-								Q6IAL8|Q7Z6I2|Q96BE8|Q96J43	Nonsense_Mutation	SNP	ENST00000578237.1	37	c.1165C>T	CCDS11171.1	.	.	.	.	.	.	.	.	.	.	.	40	8.446982	0.98815	.	.	ENSG00000221926	ENST00000336708;ENST00000416464	.	.	.	4.53	4.53	0.55603	.	0.250531	0.34652	N	0.003781	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	8.9042	0.35512	0.1031:0.0:0.8969:0.0	.	.	.	.	X	389;259	.	ENSP00000338989:Q389X	Q	-	1	0	TRIM16	15473184	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.851000	0.48302	2.232000	0.73038	0.650000	0.86243	CAG		0.602	TRIM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130700.2	NM_006470		9	69	0	0	0	1	0	9	69				
LOC344967	344967	broad.mit.edu	37	4	40045275	40045275	+	RNA	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:40045275G>A	ENST00000381811.2	-	0	874					NR_027277.1																						CGTTCCTCCAGTTGGTCTCCA	0.592																																						ENST00000381811.2																			0																																																			0							g.chr4:40045275G>A																													4.37:g.40045275G>A								NR_027277.1						0	874	-									RNA	SNP	ENST00000381811.2	37																																																																																						0.592	RP11-333E13.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361278.1			3	40	0	0	0	1	0	3	40				
KRTAP5-1	387264	broad.mit.edu	37	11	1606186	1606186	+	Silent	SNP	A	A	G	rs137999496		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:1606186A>G	ENST00000382171.2	-	1	327	c.294T>C	c.(292-294)ggT>ggC	p.G98G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	98	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGAGCCACAACCCCCCTTGG	0.677																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(292-294)ggT>ggC		keratin associated protein 5-1							35.0	51.0	46.0					11																	1606186		2176	4272	6448	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606186A>G	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.294T>C	11.37:g.1606186A>G						KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	p.G98G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	327	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	98			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.294T>C	CCDS31330.1																																																																																				0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		10	92	0	0	0	1	0	10	92				
DNASE1L1	1774	broad.mit.edu	37	X	153640435	153640435	+	5'Flank	SNP	A	A	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:153640435A>T	ENST00000393638.1	-	0	0				TAZ_ENST00000369776.4_Intron|TAZ_ENST00000369790.4_Missense_Mutation_p.H41L|TAZ_ENST00000350743.4_Missense_Mutation_p.H41L|TAZ_ENST00000351413.4_Missense_Mutation_p.H41L|TAZ_ENST00000299328.5_Missense_Mutation_p.H41L|DNASE1L1_ENST00000369809.1_5'Flank|TAZ_ENST00000475699.1_Missense_Mutation_p.H41L	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1						DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACATGAACCACCTGACCGTG	0.677											OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000299328.5																			0				lung(1)	1						c.(121-123)cAc>cTc		tafazzin							51.0	38.0	42.0					X																	153640435		2198	4298	6496	SO:0001631	upstream_gene_variant	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153640435A>T	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188		X.37:g.153640435A>T	Exception_encountered		OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1757	TAZ_ENST00000351413.4_Missense_Mutation_p.H41L|TAZ_ENST00000369790.4_Missense_Mutation_p.H41L|TAZ_ENST00000350743.4_Missense_Mutation_p.H41L|TAZ_ENST00000369776.4_Intron	p.H41L	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN			2	411	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		41					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.122A>T	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.451069	0.26074	.	.	ENSG00000102125	ENST00000369790;ENST00000426834;ENST00000299328;ENST00000350743;ENST00000454722;ENST00000351413;ENST00000439735;ENST00000475699	D;D;D;D;D;D;D;D	0.97352	-3.16;-4.35;-3.16;-3.16;-4.35;-3.16;-3.16;-3.16	4.14	1.6	0.23607	Phospholipid/glycerol acyltransferase (1);	0.208919	0.41712	D	0.000830	D	0.90590	0.7050	N	0.14661	0.345	0.29466	N	0.857439	B;B;B;B;P	0.36354	0.232;0.003;0.007;0.068;0.549	B;B;B;B;B	0.35182	0.103;0.006;0.022;0.062;0.197	D	0.86453	0.1774	10	0.48119	T	0.1	-1.0794	6.3018	0.21117	0.6583:0.0:0.3417:0.0	.	59;41;41;41;41	A6XNE1;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;TAZ_HUMAN	L	41;59;41;41;59;41;41;41	ENSP00000358805:H41L;ENSP00000411182:H59L;ENSP00000299328:H41L;ENSP00000338891:H41L;ENSP00000397388:H59L;ENSP00000218246:H41L;ENSP00000398193:H41L;ENSP00000419854:H41L	ENSP00000299328:H41L	H	+	2	0	TAZ	153293629	0.284000	0.24287	0.999000	0.59377	0.484000	0.33280	0.825000	0.27393	0.347000	0.23924	0.356000	0.21956	CAC		0.677	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			17	13	0	0	0	1	0	17	13				
PIK3R4	30849	broad.mit.edu	37	3	130463923	130463923	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr3:130463923T>C	ENST00000356763.3	-	2	697	c.140A>G	c.(139-141)gAa>gGa	p.E47G		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	47	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GACCAGGCCTTCTCGGTGCTT	0.408																																						ENST00000356763.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(139-141)gAa>gGa		phosphoinositide-3-kinase, regulatory subunit 4							65.0	67.0	66.0					3																	130463923		2203	4299	6502	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130463923T>C	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.140A>G	3.37:g.130463923T>C	ENSP00000349205:p.Glu47Gly						p.E47G	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN			2	697	-			47			Protein kinase.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.140A>G	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.428793	0.62844	.	.	ENSG00000196455	ENST00000356763	T	0.06768	3.26	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.11580	0.0282	L	0.33668	1.02	0.80722	D	1	P	0.41008	0.735	P	0.46685	0.524	T	0.14008	-1.0488	10	0.34782	T	0.22	-25.3693	15.0074	0.71524	0.0:0.0:0.0:1.0	.	47	Q99570	PI3R4_HUMAN	G	47	ENSP00000349205:E47G	ENSP00000349205:E47G	E	-	2	0	PIK3R4	131946613	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.968000	0.87980	2.014000	0.59158	0.459000	0.35465	GAA		0.408	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		16	35	0	0	0	1	0	16	35				
CPZ	8532	broad.mit.edu	37	4	8603122	8603122	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:8603122G>A	ENST00000360986.4	+	3	568	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.A121T|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000429646.2_5'Flank	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	132	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGCCAGCCCGCCTTCGACGC	0.677																																						ENST00000360986.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(394-396)Gcc>Acc		carboxypeptidase Z																																				SO:0001583	missense	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8603122G>A	U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.394G>A	4.37:g.8603122G>A	ENSP00000354255:p.Ala132Thr					CPZ_ENST00000315782.6_Missense_Mutation_p.A121T|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000506287.1_3'UTR	p.A132T	NM_001014447.2	NP_001014447.1	Q66K79	CBPZ_HUMAN			3	568	+			132			FZ.		O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	c.394G>A	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983583	0.74474	.	.	ENSG00000109625	ENST00000360986;ENST00000315782	T;T	0.80033	-1.33;-1.33	3.41	3.41	0.39046	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.85248	0.5653	L	0.58428	1.81	0.80722	D	1	D;D	0.76494	0.999;0.997	P;P	0.59357	0.854;0.856	D	0.87367	0.2348	10	0.66056	D	0.02	-27.7263	14.9966	0.71436	0.0:0.0:1.0:0.0	.	121;132	Q66K79-2;Q66K79	.;CBPZ_HUMAN	T	132;121	ENSP00000354255:A132T;ENSP00000315074:A121T	ENSP00000315074:A121T	A	+	1	0	CPZ	8654022	1.000000	0.71417	0.863000	0.33907	0.239000	0.25481	6.711000	0.74675	1.714000	0.51371	0.561000	0.74099	GCC		0.677	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		5	10	0	0	0	1	0	5	10				
SH2D1B	117157	broad.mit.edu	37	1	162381781	162381781	+	Missense_Mutation	SNP	C	C	T	rs564269887		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:162381781C>T	ENST00000367929.2	-	1	135	c.26G>A	c.(25-27)cGt>cAt	p.R9H	SH2D1B_ENST00000359567.3_Missense_Mutation_p.R9H|SH2D1B_ENST00000493550.1_5'UTR	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	9	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTGGTCAGACGTCCATGGTA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		22717	0.0		0.0	False		,,,				2504	0.001					ENST00000367929.2																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7						c.(25-27)cGt>cAt		SH2 domain containing 1B							147.0	130.0	136.0					1																	162381781		2203	4300	6503	SO:0001583	missense	117157							g.chr1:162381781C>T	AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"""SH2 domain containing"""	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.26G>A	1.37:g.162381781C>T	ENSP00000356906:p.Arg9His					SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.R9H	p.R9H	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		1	135	-	all_hematologic(112;0.115)		9			SH2.		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	c.26G>A	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.521129	0.27211	.	.	ENSG00000198574	ENST00000367929;ENST00000359567	D;D	0.88509	-2.39;-2.39	5.36	3.45	0.39498	SH2 motif (5);	0.592407	0.17321	N	0.178514	T	0.76478	0.3993	N	0.17345	0.48	0.23855	N	0.996651	P;P	0.43857	0.566;0.819	B;P	0.46940	0.121;0.532	T	0.75274	-0.3375	9	0.48119	T	0.1	-0.017	12.0561	0.53536	0.0:0.3569:0.6431:0.0	.	9;9	O14796-2;O14796	.;SH21B_HUMAN	H	9	ENSP00000356906:R9H;ENSP00000352571:R9H	ENSP00000352571:R9H	R	-	2	0	SH2D1B	160648405	0.628000	0.27138	0.982000	0.44146	0.067000	0.16453	0.674000	0.25218	0.783000	0.33636	-0.147000	0.13772	CGT		0.532	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1	NM_053282		10	74	0	0	0	1	0	10	74				
CSTF2	1478	broad.mit.edu	37	X	100077401	100077401	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:100077401A>T	ENST00000372972.2	+	3	315	c.299A>T	c.(298-300)gAg>gTg	p.E100V	SNORA9_ENST00000365361.1_RNA|CSTF2_ENST00000415585.2_Missense_Mutation_p.E100V	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	100					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 splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AACAAAGAAGAGCTGAAGAGT	0.418																																						ENST00000415585.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(298-300)gAg>gTg		cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa							75.0	68.0	70.0					X																	100077401		2203	4300	6503	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100077401A>T	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.299A>T	X.37:g.100077401A>T	ENSP00000362063:p.Glu100Val					CSTF2_ENST00000372972.2_Missense_Mutation_p.E100V|CSTF2_ENST00000486615.1_Intron	p.E100V			P33240	CSTF2_HUMAN			3	321	+			100					Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.299A>T	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499920	0.85176	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320;ENST00000413437	T;T;T	0.17213	2.45;2.45;2.29	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	M	0.62209	1.925	0.80722	D	1	B;D;P	0.61697	0.129;0.99;0.777	B;D;P	0.68943	0.273;0.961;0.539	T	0.18241	-1.0343	10	0.72032	D	0.01	-11.9262	14.2464	0.65990	1.0:0.0:0.0:0.0	.	100;100;100	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	V	100;100;100;91	ENSP00000387996:E100V;ENSP00000362063:E100V;ENSP00000415705:E91V	ENSP00000362063:E100V	E	+	2	0	CSTF2	99964057	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.658000	0.91110	1.742000	0.51746	0.486000	0.48141	GAG		0.418	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		18	42	0	0	0	1	0	18	42				
ARRB2	409	broad.mit.edu	37	17	4619834	4619834	+	Silent	SNP	G	G	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:4619834G>C	ENST00000269260.2	+	5	521	c.288G>C	c.(286-288)cgG>cgC	p.R96R	ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Silent_p.R96R|ARRB2_ENST00000346341.2_Silent_p.R81R|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000381488.6_Silent_p.R81R|ARRB2_ENST00000575877.1_Silent_p.R96R	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	96					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACCCACCCCGGCCCCCCACCC	0.672																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(286-288)cgG>cgC		arrestin, beta 2							13.0	13.0	13.0					17																	4619834		2198	4287	6485	SO:0001819	synonymous_variant	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619834G>C		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.288G>C	17.37:g.4619834G>C						ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.R96R|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000346341.2_Silent_p.R81R|ARRB2_ENST00000412477.3_Silent_p.R96R|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000381488.6_Silent_p.R81R	p.R96R	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			5	521	+			96					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	37	c.288G>C	CCDS11050.1																																																																																				0.672	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		7	20	0	0	0	1	0	7	20				
GPR112	139378	broad.mit.edu	37	X	135428469	135428469	+	Silent	SNP	G	G	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:135428469G>C	ENST00000394143.1	+	6	2895	c.2604G>C	c.(2602-2604)ctG>ctC	p.L868L	GPR112_ENST00000412101.1_Silent_p.L663L|GPR112_ENST00000394141.1_Silent_p.L663L|GPR112_ENST00000370652.1_Silent_p.L868L|GPR112_ENST00000287534.4_Silent_p.L805L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	868					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACAATGCTGGAAGTGACAG	0.398																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(2602-2604)ctG>ctC		G protein-coupled receptor 112							139.0	132.0	134.0					X																	135428469		2203	4300	6503	SO:0001819	synonymous_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428469G>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2604G>C	X.37:g.135428469G>C						GPR112_ENST00000287534.4_Silent_p.L805L|GPR112_ENST00000412101.1_Silent_p.L663L|GPR112_ENST00000394141.1_Silent_p.L663L|GPR112_ENST00000370652.1_Silent_p.L868L	p.L868L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	2895	+	Acute lymphoblastic leukemia(192;0.000127)		868					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	c.2604G>C	CCDS35409.1																																																																																				0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			21	225	0	0	0	1	0	21	225				
HS3ST3A1	9955	broad.mit.edu	37	17	13400056	13400056	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:13400056C>T	ENST00000284110.1	-	2	1476	c.679G>A	c.(679-681)Gcg>Acg	p.A227T	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.A25T	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	227					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGATGCGCGCGGGGGCCTCC	0.627																																						ENST00000284110.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(679-681)Gcg>Acg		heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1							75.0	95.0	89.0					17																	13400056		2203	4300	6503	SO:0001583	missense	9955					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:13400056C>T	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.679G>A	17.37:g.13400056C>T	ENSP00000284110:p.Ala227Thr					HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.A25T	p.A227T	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	2	1476	-		all_lung(20;0.114)	227					A8K7N2	Missense_Mutation	SNP	ENST00000284110.1	37	c.679G>A	CCDS11165.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431902	0.62844	.	.	ENSG00000153976	ENST00000284110	T	0.42900	0.96	5.32	5.32	0.75619	Sulfotransferase domain (1);	0.069421	0.56097	U	0.000027	T	0.42291	0.1196	L	0.58428	1.81	0.58432	D	0.999995	B	0.32604	0.377	B	0.27076	0.076	T	0.33317	-0.9873	10	0.42905	T	0.14	.	19.4836	0.95020	0.0:1.0:0.0:0.0	.	227	Q9Y663	HS3SA_HUMAN	T	227	ENSP00000284110:A227T	ENSP00000284110:A227T	A	-	1	0	HS3ST3A1	13340781	0.998000	0.40836	0.998000	0.56505	0.985000	0.73830	3.758000	0.55220	2.873000	0.98535	0.563000	0.77884	GCG		0.627	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129952.1	NM_006042		51	162	0	0	0	1	0	51	162				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	34	0	0	0	1	0	3	34				
LETM2	137994	broad.mit.edu	37	8	38262000	38262000	+	Silent	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:38262000G>A	ENST00000379957.4	+	8	1321	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000523983.2_Silent_p.P351P|RP11-350N15.3_ENST00000533301.1_RNA|LETM2_ENST00000524874.1_Silent_p.P350P|LETM2_ENST00000527710.1_Silent_p.P184P|LETM2_ENST00000297720.5_Silent_p.P303P	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	398						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			AGCCCAAGCCGATTGAGATAC	0.557																																						ENST00000379957.4																			0				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7						c.(1192-1194)ccG>ccA		leucine zipper-EF-hand containing transmembrane protein 2							136.0	115.0	122.0					8																	38262000		2203	4300	6503	SO:0001819	synonymous_variant	137994					integral to membrane|mitochondrial inner membrane		g.chr8:38262000G>A	AK058138	CCDS6106.1, CCDS56534.1, CCDS69466.1, CCDS75731.1	8p12	2013-01-11						"""EF-hand domain containing"""	14648	protein-coding gene	gene with protein product						11549311	Standard	NM_001286821		Approved	FLJ25409	uc003xlm.2	Q2VYF4		ENST00000379957.4:c.1194G>A	8.37:g.38262000G>A						LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000527710.1_Silent_p.P184P|LETM2_ENST00000524874.1_Silent_p.P350P|LETM2_ENST00000523983.2_Silent_p.P351P|LETM2_ENST00000297720.5_Silent_p.P303P	p.P398P	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)		8	1321	+	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	398					A6NMG3|Q8NCR2|Q96LL1	Silent	SNP	ENST00000379957.4	37	c.1194G>A		.	.	.	.	.	.	.	.	.	.	G	5.328	0.245762	0.10077	.	.	ENSG00000165046	ENST00000527175	.	.	.	5.46	-9.97	0.00440	.	.	.	.	.	T	0.31918	0.0812	.	.	.	0.53688	D	0.999974	.	.	.	.	.	.	T	0.44436	-0.9328	4	.	.	.	.	1.2094	0.01902	0.1543:0.1768:0.2819:0.387	.	.	.	.	N	24	.	.	D	+	1	0	LETM2	38381157	0.000000	0.05858	0.819000	0.32651	0.559000	0.35586	-3.462000	0.00463	-1.194000	0.02684	-4.012000	0.00013	GAT		0.557	LETM2-013	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000381816.1	NM_144652		10	57	0	0	0	1	0	10	57				
LRRC55	219527	broad.mit.edu	37	11	56949447	56949447	+	Missense_Mutation	SNP	A	A	G	rs548464910	byFrequency	TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:56949447A>G	ENST00000497933.1	+	1	227	c.80A>G	c.(79-81)gAc>gGc	p.D27G		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GATTCCATGGACACAGTCCTC	0.607																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(79-81)gAc>gGc		leucine rich repeat containing 55							77.0	60.0	66.0					11																	56949447		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56949447A>G		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.80A>G	11.37:g.56949447A>G	ENSP00000419542:p.Asp27Gly						p.D27G	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	227	+			0					A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.80A>G	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	A	10.42	1.344484	0.24339	.	.	ENSG00000183908	ENST00000497933	T	0.60920	0.15	5.19	1.39	0.22231	.	1.390910	0.04845	N	0.441357	T	0.34395	0.0896	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.14282	-1.0478	7	0.16420	T	0.52	.	2.711	0.05174	0.4297:0.352:0.083:0.1353	.	.	.	.	G	27	ENSP00000419542:D27G	ENSP00000419542:D27G	D	+	2	0	LRRC55	56706023	0.002000	0.14202	0.007000	0.13788	0.048000	0.14542	-0.059000	0.11731	0.100000	0.17581	0.533000	0.62120	GAC		0.607	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		11	58	0	0	0	1	0	11	58				
EFS	10278	broad.mit.edu	37	14	23828664	23828664	+	Silent	SNP	T	T	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr14:23828664T>G	ENST00000216733.3	-	4	1630	c.1023A>C	c.(1021-1023)ccA>ccC	p.P341P	EFS_ENST00000429593.2_Silent_p.P172P|RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Silent_p.P248P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	341	Pro-rich.				cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAGGCGGGGTGGGGGTGGGG	0.697																																						ENST00000216733.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16						c.(1021-1023)ccA>ccC		embryonal Fyn-associated substrate							32.0	33.0	33.0					14																	23828664		1974	3869	5843	SO:0001819	synonymous_variant	0				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23828664T>G	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1023A>C	14.37:g.23828664T>G						EFS_ENST00000351354.3_Silent_p.P248P|EFS_ENST00000429593.2_Silent_p.P172P	p.P341P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	4	1630	-	all_cancers(95;7.12e-06)		341			Pro-rich.		B2RAJ7|B4DJ56|E9PGU2|O43282	Silent	SNP	ENST00000216733.3	37	c.1023A>C	CCDS9595.1																																																																																				0.697	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2			10	61	0	0	0	1	0	10	61				
NEMF	9147	broad.mit.edu	37	14	50269393	50269393	+	Silent	SNP	A	A	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr14:50269393A>C	ENST00000298310.5	-	21	2417	c.1968T>G	c.(1966-1968)ctT>ctG	p.L656L	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000545773.1_Silent_p.L614L|NEMF_ENST00000546046.1_Silent_p.L635L			O60524	NEMF_HUMAN	nuclear export mediator factor	656					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GTACCTTAAAAAGGAAGCTAA	0.318																																						ENST00000298310.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1966-1968)ctT>ctG		nuclear export mediator factor							54.0	55.0	55.0					14																	50269393		2203	4300	6503	SO:0001819	synonymous_variant	9147					cytoplasm|nucleus		g.chr14:50269393A>C	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.1968T>G	14.37:g.50269393A>C						NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Silent_p.L635L|NEMF_ENST00000545773.1_Silent_p.L614L	p.L656L			O60524	NEMF_HUMAN			21	2417	-			656					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	ENST00000298310.5	37	c.1968T>G	CCDS9694.1																																																																																				0.318	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		6	49	0	0	0	1	0	6	49				
DOCK11	139818	broad.mit.edu	37	X	117773444	117773444	+	Missense_Mutation	SNP	T	T	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:117773444T>A	ENST00000276202.7	+	38	4111	c.4048T>A	c.(4048-4050)Tcg>Acg	p.S1350T	DOCK11_ENST00000276204.6_Missense_Mutation_p.S1350T	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1350					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGACCGAAAATCGCAAACCAT	0.413																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(4048-4050)Tcg>Acg		dedicator of cytokinesis 11							104.0	89.0	94.0					X																	117773444		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117773444T>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4048T>A	X.37:g.117773444T>A	ENSP00000276202:p.Ser1350Thr					DOCK11_ENST00000276202.7_Missense_Mutation_p.S1350T	p.S1350T			Q5JSL3	DOC11_HUMAN			38	4122	+			1350					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.4048T>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629348	0.67015	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.18810	2.19;2.19	5.26	5.26	0.73747	.	0.222223	0.39274	N	0.001408	T	0.25754	0.0627	M	0.69463	2.115	0.54753	D	0.999984	B;B	0.31989	0.35;0.35	B;B	0.31686	0.134;0.134	T	0.03086	-1.1074	10	0.41790	T	0.15	-5.5694	14.5313	0.67929	0.0:0.0:0.0:1.0	.	1350;1350	A6NIW2;Q5JSL3	.;DOC11_HUMAN	T	1350	ENSP00000276204:S1350T;ENSP00000276202:S1350T	ENSP00000276202:S1350T	S	+	1	0	DOCK11	117657472	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	7.388000	0.79795	1.880000	0.54463	0.381000	0.24937	TCG		0.413	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		14	90	0	0	0	1	0	14	90				
TLL2	7093	broad.mit.edu	37	10	98129891	98129891	+	Silent	SNP	G	G	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr10:98129891G>A	ENST00000357947.3	-	20	3069	c.2844C>T	c.(2842-2844)taC>taT	p.Y948Y		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	948	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCATGTAGTCGTAGCCGCAGT	0.667																																						ENST00000357947.3																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58						c.(2842-2844)taC>taT		tolloid-like 2							72.0	62.0	66.0					10																	98129891		2203	4300	6503	SO:0001819	synonymous_variant	7093				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:98129891G>A	AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.2844C>T	10.37:g.98129891G>A							p.Y948Y	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)	20	3069	-		Colorectal(252;0.0846)	948			CUB 5.		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Silent	SNP	ENST00000357947.3	37	c.2844C>T	CCDS7449.1																																																																																				0.667	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049608.1			11	81	0	0	0	1	0	11	81				
OR5I1	10798	broad.mit.edu	37	11	55703053	55703053	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:55703053A>G	ENST00000301532.3	-	1	823	c.824T>C	c.(823-825)aTt>aCt	p.I275T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	275					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CACTGAGATAATTTTATCAGT	0.408																																						ENST00000301532.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(823-825)aTt>aCt		olfactory receptor, family 5, subfamily I, member 1							72.0	71.0	71.0					11																	55703053		2201	4295	6496	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703053A>G	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.824T>C	11.37:g.55703053A>G	ENSP00000301532:p.Ile275Thr						p.I275T	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	823	-			275					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.824T>C	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.332049	0.41297	.	.	ENSG00000167825	ENST00000301532	T	0.00158	8.65	5.16	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.320352	0.22964	N	0.053509	T	0.00144	0.0004	L	0.39020	1.185	0.09310	N	1	P	0.36354	0.549	B	0.34536	0.185	T	0.31392	-0.9945	10	0.62326	D	0.03	.	9.2349	0.37459	0.913:0.0:0.087:0.0	.	275	Q13606	OR5I1_HUMAN	T	275	ENSP00000301532:I275T	ENSP00000301532:I275T	I	-	2	0	OR5I1	55459629	0.001000	0.12720	0.358000	0.25811	0.964000	0.63967	1.290000	0.33319	0.898000	0.36418	0.523000	0.50628	ATT		0.408	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		16	27	0	0	0	1	0	16	27				
CASP1	834	broad.mit.edu	37	11	104897057	104897057	+	Missense_Mutation	SNP	A	A	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:104897057A>C	ENST00000533400.1	-	9	1178	c.1143T>G	c.(1141-1143)gaT>gaG	p.D381E	CASP1_ENST00000527979.1_Missense_Mutation_p.D344E|CASP1_ENST00000526568.1_Missense_Mutation_p.D288E|CASP1_ENST00000593315.1_Missense_Mutation_p.D360E|CASP1_ENST00000525825.1_Missense_Mutation_p.D360E|CASP1_ENST00000598974.1_Missense_Mutation_p.D381E|CASP1_ENST00000531166.1_Missense_Mutation_p.D65E|CASP1_ENST00000594519.1_Missense_Mutation_p.D240E|CASP1_ENST00000446369.1_Missense_Mutation_p.D240E|CASP1_ENST00000415981.2_Missense_Mutation_p.D65E|CASP1_ENST00000393136.4_Missense_Mutation_p.D360E|CASP1_ENST00000534497.1_Missense_Mutation_p.D240E|CASP1_ENST00000353247.5_Missense_Mutation_p.D65E|CASP1_ENST00000436863.3_Missense_Mutation_p.D381E	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	381					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic substance (GO:0071310)|execution phase of apoptosis (GO:0097194)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|membrane hyperpolarization (GO:0060081)|mitochondrial depolarization (GO:0051882)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|programmed necrotic cell death (GO:0097300)|proteolysis (GO:0006508)|pyroptosis (GO:0070269)|regulation of inflammatory response (GO:0050727)|response to ATP (GO:0033198)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|IPAF inflammasome complex (GO:0072557)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|endopeptidase activity (GO:0004175)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)	GCGCTCTACCATCTGGCTGCT	0.393																																					NSCLC(41;1246 1743 4934)	ENST00000533400.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(1141-1143)gaT>gaG		caspase 1, apoptosis-related cysteine peptidase	Minocycline(DB01017)|Penicillamine(DB00859)						80.0	80.0	80.0					11																	104897057		2202	4298	6500	SO:0001583	missense	834				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	g.chr11:104897057A>C	U13697	CCDS8329.1, CCDS8330.1, CCDS8331.1, CCDS8332.1, CCDS53704.1	11q23	2012-02-29	2012-02-29		ENSG00000137752	ENSG00000137752		"""Caspases"""	1499	protein-coding gene	gene with protein product	"""caspase-1"", ""interleukin 1, beta, convertase"""	147678	"""caspase 1, apoptosis-related cysteine protease (interleukin 1, beta, convertase)"", ""caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase)"""	IL1BC		1373520, 9250871	Standard	NM_033292		Approved	ICE	uc001pim.5	P29466	OTTHUMG00000048072	ENST00000533400.1:c.1143T>G	11.37:g.104897057A>C	ENSP00000433138:p.Asp381Glu					CASP1_ENST00000598974.1_Missense_Mutation_p.D381E|CASP1_ENST00000594519.1_Missense_Mutation_p.D240E|CASP1_ENST00000593315.1_Missense_Mutation_p.D360E|CASP1_ENST00000534497.1_Missense_Mutation_p.D240E|CASP1_ENST00000526568.1_Missense_Mutation_p.D288E|CASP1_ENST00000527979.1_Missense_Mutation_p.D344E|CASP1_ENST00000525825.1_Missense_Mutation_p.D360E|CASP1_ENST00000446369.1_Missense_Mutation_p.D240E|CASP1_ENST00000436863.3_Missense_Mutation_p.D381E|CASP1_ENST00000531166.1_Missense_Mutation_p.D65E|CASP1_ENST00000415981.2_Missense_Mutation_p.D65E|CASP1_ENST00000393136.4_Missense_Mutation_p.D360E|CASP1_ENST00000353247.5_Missense_Mutation_p.D65E	p.D381E	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	9	1178	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	381					B5MDZ1|Q53EY6|Q6DMQ1|Q6GSS3|Q6PI75|Q9UCN3	Missense_Mutation	SNP	ENST00000533400.1	37	c.1143T>G	CCDS8330.1	.	.	.	.	.	.	.	.	.	.	.	9.573	1.121466	0.20877	.	.	ENSG00000137752	ENST00000526568;ENST00000527979;ENST00000533400;ENST00000436863;ENST00000415981;ENST00000446369;ENST00000353247;ENST00000393136;ENST00000525825;ENST00000531166;ENST00000534497	T;T;T;T;T;T;T;T;T;T;T	0.42131	4.0;4.0;4.0;4.0;0.98;0.98;0.98;4.0;4.0;0.98;0.98	4.2	-7.78	0.01223	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (1);	1.337980	0.04975	N	0.464539	T	0.27663	0.0680	M	0.64260	1.97	0.09310	N	1	B;B;B;B;B;B	0.17268	0.021;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.20184	0.028;0.004;0.0;0.0;0.0;0.001	T	0.36529	-0.9744	10	0.08179	T	0.78	.	0.5261	0.00620	0.1943:0.2523:0.2745:0.2789	.	65;240;360;381;344;288	P29466-5;P29466-4;P29466-2;P29466;G3V169;P29466-3	.;.;.;CASP1_HUMAN;.;.	E	288;344;381;381;65;240;65;360;360;65;240	ENSP00000434250:D288E;ENSP00000432340:D344E;ENSP00000433138:D381E;ENSP00000410076:D381E;ENSP00000408446:D65E;ENSP00000403260:D240E;ENSP00000344132:D65E;ENSP00000376844:D360E;ENSP00000434779:D360E;ENSP00000434303:D65E;ENSP00000436875:D240E	ENSP00000344132:D65E	D	-	3	2	CASP1	104402267	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.369000	0.07533	-1.203000	0.02652	0.377000	0.23210	GAT		0.393	CASP1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388116.1	NM_033292		7	67	0	0	0	1	0	7	67				
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000420246.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTACACATGTAGTTGTAGTG	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004907	TP53	M		c.(706-708)tAc>tGc	Other conserved DNA damage response genes	tumor protein p53							126.0	100.0	109.0					17																	7577574		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577574T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C	p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	839	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	236		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.707A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		40	36	0	0	0	1	0	40	36				
AR	367	broad.mit.edu	37	X	66863188	66863188	+	Silent	SNP	G	G	C			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:66863188G>C	ENST00000374690.3	+	2	2231	c.1707G>C	c.(1705-1707)ggG>ggC	p.G569G	AR_ENST00000513847.1_3'UTR|AR_ENST00000396043.2_Silent_p.G37G|AR_ENST00000396044.3_Silent_p.G569G|AR_ENST00000504326.1_Silent_p.G569G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	568	Interaction with LPXN.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	AAGCTTCTGGGTGTCACTATG	0.493									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(1705-1707)ggG>ggC		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						112.0	91.0	98.0					X																	66863188		2203	4300	6503	SO:0001819	synonymous_variant	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66863188G>C	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1707G>C	X.37:g.66863188G>C						AR_ENST00000396044.3_Silent_p.G569G|AR_ENST00000504326.1_Silent_p.G569G|AR_ENST00000396043.2_Silent_p.G37G|AR_ENST00000513847.1_3'UTR	p.G569G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			2	2231	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	568					A2RUN2|B1AKD7|Q9UD95	Silent	SNP	ENST00000374690.3	37	c.1707G>C	CCDS14387.1																																																																																				0.493	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		5	43	0	0	0	1	0	5	43				
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:39799059_39799060insG	ENST00000372915.3	+	36	6901_6902	c.6814_6815insG	c.(6814-6816)aggfs	p.R2272fs	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Frame_Shift_Ins_p.R2267fs|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.R707fs|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.R2304fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6799-6801)ggafs		microtubule-actin crosslinking factor 1																																				SO:0001589	frameshift_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39799059_39799060insG	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6817dupG	1.37:g.39799062_39799062dupG	ENSP00000362006:p.Arg2272fs					MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs	p.G2267fs			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7576_7577	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2272					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Ins	INS	ENST00000372915.3	37	c.6799_6800insG																																																																																					0.391	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	130						7	130	---	---	---	---
RP11-13J8.1	0	broad.mit.edu	37	2	201967218	201967218	+	lincRNA	DEL	G	G	-	rs371047928|rs368317583		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr2:201967218delG	ENST00000448256.1	+	0	628																											aaaaaaaaaagaaTTTGTTCT	0.463																																						ENST00000448256.1																			0																																																			0							g.chr2:201967218delG																													2.37:g.201967218delG														0	628	+									RNA	DEL	ENST00000448256.1	37																																																																																						0.463	RP11-13J8.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000347397.1			3	4						3	4	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000337523.5_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	272						8	272	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			7	214						7	214	---	---	---	---
ASCL1	429	broad.mit.edu	37	12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCA	rs71438488|rs3832799|rs369257660		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:103352171_103352172insGCA	ENST00000266744.3	+	1	708_709	c.149_150insGCA	c.(148-153)gcgcag>gcGCAgcag	p.62_63insQ		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	62	Poly-Gln.			Q -> QQQ (in Ref. 1; AAA58376). {ECO:0000305}.	adrenal chromaffin cell differentiation (GO:0061104)|carotid body glomus cell differentiation (GO:0061103)|cell maturation (GO:0048469)|cellular response to magnetism (GO:0071259)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|cerebral cortex GABAergic interneuron differentiation (GO:0021892)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|lung epithelial cell differentiation (GO:0060487)|lung neuroendocrine cell differentiation (GO:0061100)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroblast fate determination (GO:0007400)|neuroblast proliferation (GO:0007405)|neurogenesis (GO:0022008)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron fate commitment (GO:0003359)|Notch signaling pathway (GO:0007219)|olfactory pit development (GO:0060166)|oligodendrocyte development (GO:0014003)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epithelial cell differentiation (GO:0030856)|regulation of gene expression (GO:0010468)|regulation of mitotic cell cycle (GO:0007346)|regulation of timing of subpallium neuron differentiation (GO:0060165)|response to epidermal growth factor (GO:0070849)|response to folic acid (GO:0051593)|response to lithium ion (GO:0010226)|response to retinoic acid (GO:0032526)|spinal cord association neuron differentiation (GO:0021527)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|stomach neuroendocrine cell differentiation (GO:0061102)|subpallium neuron fate commitment (GO:0060163)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)|vestibular nucleus development (GO:0021750)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757																																						ENST00000266744.3																			0				NS(3)|large_intestine(1)|lung(1)	5						c.(148-150)gca>gGCAca		achaete-scute family bHLH transcription factor 1																																				SO:0001652	inframe_insertion	429				cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr12:103352171_103352172insGCA	L08424	CCDS31886.1	12q22-q23	2013-10-17	2013-10-17			ENSG00000139352		"""Basic helix-loop-helix proteins"""	738	protein-coding gene	gene with protein product		100790	"""achaete-scute complex (Drosophila) homolog-like 1"", ""achaete-scute complex-like 1 (Drosophila)"", ""achaete-scute complex homolog 1 (Drosophila)"""			8390674	Standard	NM_004316		Approved	ASH1, HASH1, bHLHa46	uc001tjr.4	P50553		ENST00000266744.3:c.183_185dupGCA	12.37:g.103352178_103352180dupGCA	ENSP00000266744:p.Gln62_Gln62dup						p.50_50A>GT	NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN			1	708_709	+			50					A8K3C4|Q9BQ30	In_Frame_Ins	INS	ENST00000266744.3	37	c.149_150insGCA	CCDS31886.1																																																																																				0.757	ASCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406707.1			5	3						5	3	---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	4046085	4046085	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:4046085delG	ENST00000381638.2	-	1	229	c.105delC	c.(103-105)cccfs	p.P35fs	CYB5D2_ENST00000301391.3_5'Flank|CYB5D2_ENST00000573984.1_5'Flank|ZZEF1_ENST00000574474.1_5'UTR|CYB5D2_ENST00000575251.1_5'Flank	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	35							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGCCCGGGCCGGGGGTCGTGC	0.751																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(103-105)ccfs		zinc finger, ZZ-type with EF-hand domain 1							2.0	2.0	2.0					17																	4046085		1368	2706	4074	SO:0001589	frameshift_variant	23140						calcium ion binding|zinc ion binding	g.chr17:4046085delG	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.105delC	17.37:g.4046085delG	ENSP00000371051:p.Pro35fs					ZZEF1_ENST00000574474.1_5'UTR	p.P35fs	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			1	229	-			35					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Frame_Shift_Del	DEL	ENST00000381638.2	37	c.105delC	CCDS11043.1																																																																																				0.751	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		2	4						2	4	---	---	---	---
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275|rs199822445|rs201862465|rs6146458|rs200669927	byFrequency	TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000593649.1	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gatggcgacagcgag>gag	p.DGDS489del	KANK3_ENST00000330915.3_In_Frame_Del_p.DGDS489del			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717														1760	0.351438	0.4085	0.428	5008	,	,		15278	0.2927		0.2962	False		,,,				2504	0.3374					ENST00000330915.3																			2	Deletion - In frame(2)	p.D489_S492delDGDS(2)	large_intestine(1)|breast(1)	breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(1465-1479)gag>ga		KN motif and ankyrin repeat domains 3				958,2544		287,384,1080						-7.5	0.0		dbSNP_114	6	1402,5766		338,726,2520	no	coding	KANK3	NM_198471.2		625,1110,3600	A1A1,A1R,RR		19.5592,27.3558,22.1181				2360,8310				SO:0001651	inframe_deletion	256949							g.chr19:8398950_8398961delTCGCTGTCGCCA	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1467_1478delTGGCGACAGCGA	19.37:g.8398950_8398961delTCGCTGTCGCCA	ENSP00000470728:p.Asp489_Ser492del					KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del	p.DGDSE489del	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			5	1532_1543	-			489					Q6NZI1|Q6ZQR3|Q8IUV2	In_Frame_Del	DEL	ENST00000593649.1	37	c.1467_1478delTGGCGACAGCGA																																																																																					0.717	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		5	6						5	6	---	---	---	---
