#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
OR4C6	219432	broad.mit.edu	37	11	55432991	55432991	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr11:55432991G>C	ENST00000314259.3	+	1	378	c.349G>C	c.(349-351)Gcc>Ccc	p.A117P		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CACTGTGATGGCCTATGACCG	0.567																																						uc010rik.2																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(349-351)Gcc>Ccc		Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.							112.0	102.0	106.0					11																	55432991		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432991G>C	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.349G>C	11.37:g.55432991G>C	ENSP00000324769:p.Ala117Pro						p.A117P	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			0	349	+			117					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.349G>C	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027740	0.54790	.	.	ENSG00000181903	ENST00000314259	T	0.56103	0.48	3.83	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.198321	0.24813	N	0.035392	T	0.81269	0.4787	H	0.98048	4.135	0.31439	N	0.672153	D	0.63046	0.992	D	0.68039	0.955	D	0.87168	0.2219	10	0.87932	D	0	.	14.3601	0.66766	0.0:0.0:1.0:0.0	.	117	Q8NH72	OR4C6_HUMAN	P	117	ENSP00000324769:A117P	ENSP00000324769:A117P	A	+	1	0	OR4C6	55189567	1.000000	0.71417	0.995000	0.50966	0.276000	0.26787	4.040000	0.57333	1.698000	0.51180	0.543000	0.68304	GCC		0.567	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		3	98	0	0	0	1	0	3	98				
SSTR2	6752	broad.mit.edu	37	17	71166132	71166132	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr17:71166132G>T	ENST00000357585.2	+	2	1043	c.674G>T	c.(673-675)tGt>tTt	p.C225F	SSTR2_ENST00000315332.2_Missense_Mutation_p.C225F|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	225					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	ACCATCATCTGTCTTTGCTAC	0.502																																						uc002jje.3																			0				endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11						c.(673-675)tGt>tTt		Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.							128.0	119.0	122.0					17																	71166132		2203	4300	6503	SO:0001583	missense	6752				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71166132G>T		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.674G>T	17.37:g.71166132G>T	ENSP00000350198:p.Cys225Phe					SSTR2_uc021ucm.1_Missense_Mutation_p.C225F	p.C225F	NM_001050	NP_001041	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		1	1034	+			225					A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	c.674G>T	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824926	0.71143	.	.	ENSG00000180616	ENST00000357585;ENST00000315332	T;T	0.72505	-0.66;-0.66	5.64	5.64	0.86602	GPCR, rhodopsin-like superfamily (1);	0.045624	0.85682	D	0.000000	D	0.84561	0.5499	M	0.76433	2.335	0.80722	D	1	D	0.60575	0.988	D	0.73708	0.981	D	0.85688	0.1305	10	0.87932	D	0	.	19.2963	0.94124	0.0:0.0:1.0:0.0	.	225	P30874	SSR2_HUMAN	F	225	ENSP00000350198:C225F;ENSP00000326616:C225F	ENSP00000326616:C225F	C	+	2	0	SSTR2	68677727	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.864000	0.99589	2.657000	0.90304	0.655000	0.94253	TGT		0.502	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			18	145	0	0	0	1	0	18	145				
ALS2CR12	130540	broad.mit.edu	37	2	202216069	202216069	+	Missense_Mutation	SNP	C	C	T	rs142397497		TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr2:202216069C>T	ENST00000286190.5	-	1	105	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R20Q|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.R20Q			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	20					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)		p.R20Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GATTAGCTTCCGTGGTCCCAA	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17196	0.0		0.0	False		,,,				2504	0.001					uc010ftg.3																			1	Substitution - Missense(1)	p.R20Q(2)	endometrium(1)	NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(58-60)cGg>cAg		Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	104.0	97.0	100.0		59,59	2.3	0.9	2	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ALS2CR12	NM_001127391.1,NM_139163.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	20/423,20/446	202216069	1,13005	2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202216069C>T	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.59G>A	2.37:g.202216069C>T	ENSP00000286190:p.Arg20Gln					ALS2CR12_uc002uya.4_Missense_Mutation_p.R20Q|ALS2CR12_uc010fth.3_Non-coding_Transcript	p.R20Q	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN			1	503	-			20					G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.59G>A	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597707	0.46318	0.0	1.16E-4	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000418364	T;T;T;T;T	0.58210	0.91;0.91;0.91;0.91;0.35	5.06	2.28	0.28536	.	0.317119	0.23103	N	0.051893	T	0.33818	0.0876	L	0.33485	1.01	0.21020	N	0.999809	B;B	0.30033	0.266;0.266	B;B	0.22386	0.039;0.039	T	0.17379	-1.0371	10	0.46703	T	0.11	-5.5698	5.0633	0.14568	0.0:0.6437:0.1719:0.1844	.	20;20	Q96Q35;G5E9S3	AL2SB_HUMAN;.	Q	20	ENSP00000286190:R20Q;ENSP00000385098:R20Q;ENSP00000376086:R20Q;ENSP00000412073:R20Q;ENSP00000407585:R20Q	ENSP00000286190:R20Q	R	-	2	0	ALS2CR12	201924314	0.021000	0.18746	0.897000	0.35233	0.905000	0.53344	0.413000	0.21148	0.808000	0.34231	-0.137000	0.14449	CGG		0.557	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		25	49	0	0	0	1	0	25	49				
CSMD1	64478	broad.mit.edu	37	8	3008978	3008978	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr8:3008978G>T	ENST00000520002.1	-	41	6530	c.5975C>A	c.(5974-5976)cCa>cAa	p.P1992Q	CSMD1_ENST00000539096.1_Missense_Mutation_p.P1991Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1991Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1991Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1992Q|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1992Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1992Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1992	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTAAGAACCTGGGAAGCCGGG	0.488																																						uc022aqr.1																			0				breast(20)|large_intestine(5)	25						c.(5971-5973)cCa>cAa		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.							85.0	92.0	90.0					8																	3008978		2077	4238	6315	SO:0001583	missense	64478					integral to membrane		g.chr8:3008978G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.5975C>A	8.37:g.3008978G>T	ENSP00000430733:p.Pro1992Gln					CSMD1_uc011kwj.2_Missense_Mutation_p.P1384Q|CSMD1_uc003wqe.3_Missense_Mutation_p.P1148Q|CSMD1_uc010lrg.3_Missense_Mutation_p.P60Q	p.P1991Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	39	6362	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1992			CUB 12.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.5972C>A		.	.	.	.	.	.	.	.	.	.	G	17.87	3.494150	0.64186	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.54071	1.4;1.4;1.4;1.4;0.59	4.79	4.79	0.61399	CUB (5);	0.000000	0.64402	D	0.000001	D	0.84211	0.5422	H	0.98818	4.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;1.0;0.994	D	0.91449	0.5180	10	0.87932	D	0	.	17.8564	0.88765	0.0:0.0:1.0:0.0	.	1992;1992;1991;1992	E5RIG2;Q96PZ7;F5H2I8;Q96PZ7-4	.;CSMD1_HUMAN;.;.	Q	1992;1992;1853;1991;1991;1991	ENSP00000383047:P1992Q;ENSP00000430733:P1992Q;ENSP00000441462:P1991Q;ENSP00000446243:P1991Q;ENSP00000441675:P1991Q	ENSP00000320445:P1853Q	P	-	2	0	CSMD1	2996385	1.000000	0.71417	0.087000	0.20705	0.167000	0.22549	9.527000	0.98044	2.186000	0.69663	0.650000	0.86243	CCA		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	28	0	0	0	1	0	10	28				
IP6K2	51447	broad.mit.edu	37	3	48732456	48732456	+	Intron	SNP	C	C	A			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr3:48732456C>A	ENST00000328631.5	-	2	426				IP6K2_ENST00000443964.1_Missense_Mutation_p.R149M|IP6K2_ENST00000453202.1_Missense_Mutation_p.R90M|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000431721.2_Missense_Mutation_p.R145M|IP6K2_ENST00000417896.1_Missense_Mutation_p.R90M|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000449610.1_Missense_Mutation_p.R90M|IP6K2_ENST00000450045.1_Intron|IP6K2_ENST00000446860.1_Missense_Mutation_p.R148M	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2						cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CTGCCAGGGCCTTCCATGGCC	0.607																																						uc011bbv.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						c.(442-444)aGg>aTg		Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 10, mRNA.																																				SO:0001627	intron_variant	51447				negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:48732456C>A	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.202+66G>T	3.37:g.48732456C>A						IP6K2_uc003cuq.3_Intron|IP6K2_uc003cup.3_Intron|IP6K2_uc011bbs.2_Intron|IP6K2_uc003cut.3_Intron|IP6K2_uc003cus.3_Intron|IP6K2_uc003cur.3_Intron|IP6K2_uc011bbu.2_Missense_Mutation_p.R144M|IP6K2_uc011bbr.2_Intron|IP6K2_uc011bbt.2_Missense_Mutation_p.R145M|IP6K2_uc011bbq.2_Intron	p.R148M	NM_001190317	NP_001177246	Q9UHH9	IP6K2_HUMAN			2	866	-			177					A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	37	c.443G>T	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.704800	0.48412	.	.	ENSG00000068745	ENST00000431721;ENST00000449610;ENST00000446860;ENST00000417896;ENST00000443964;ENST00000453202	T;T;T;T;T;T	0.51325	0.71;0.77;0.71;0.77;0.71;0.77	4.2	0.154	0.14901	.	.	.	.	.	T	0.22166	0.0534	N	0.08118	0	0.09310	N	0.999999	P;P;P	0.39157	0.662;0.662;0.662	B;B;B	0.37304	0.246;0.246;0.181	T	0.09818	-1.0657	9	0.35671	T	0.21	.	3.2375	0.06770	0.1645:0.4193:0.3203:0.0959	.	148;144;145	B4E3G6;A8K636;A8K3B1	.;.;.	M	145;90;148;90;149;90	ENSP00000414139:R145M;ENSP00000393077:R90M;ENSP00000399052:R148M;ENSP00000388116:R90M;ENSP00000410950:R149M;ENSP00000387394:R90M	ENSP00000388116:R90M	R	-	2	0	IP6K2	48707460	0.077000	0.21312	0.000000	0.03702	0.696000	0.40369	0.161000	0.16481	-0.085000	0.12573	0.195000	0.17529	AGG		0.607	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		13	24	0	0	0	1	0	13	24				
UGT2A1	10941	broad.mit.edu	37	4	70505028	70505028	+	Intron	SNP	G	G	T			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr4:70505028G>T	ENST00000503640.1	-	1	771				UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.L312I|UGT2A1_ENST00000512704.1_Intron|UGT2A2_ENST00000457664.2_Missense_Mutation_p.L111I	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus						cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CATATTGTGAGAGGAGTTGGT	0.353																																						uc011caq.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(934-936)Ctc>Atc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.							110.0	107.0	108.0					4																	70505028		1842	4090	5932	SO:0001627	intron_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70505028G>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.715+7619C>A	4.37:g.70505028G>T						UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.L111I|UGT2A1_uc021xox.1_Missense_Mutation_p.L111I|UGT2A1_uc010iht.3_Intron	p.L312I	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN			2	1050	-			102					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	37	c.934C>A	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271261	0.23221	.	.	ENSG00000173610	ENST00000457664;ENST00000514019	T;T	0.62105	0.25;0.05	5.85	2.21	0.28008	.	.	.	.	.	T	0.53417	0.1795	L	0.42245	1.32	.	.	.	B;P	0.51653	0.379;0.947	B;P	0.46049	0.197;0.502	T	0.58306	-0.7659	8	0.23891	T	0.37	.	8.6156	0.33829	0.3816:0.0:0.6184:0.0	.	312;111	E9PDM7;Q9Y4X1-2	.;.	I	111;312	ENSP00000387888:L111I;ENSP00000425497:L312I	ENSP00000387888:L111I	L	-	1	0	UGT2A1	70539617	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	-0.074000	0.11450	0.398000	0.25338	0.585000	0.79938	CTC		0.353	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		4	73	0	0	0	1	0	4	73				
POLR3C	10623	broad.mit.edu	37	1	145608142	145608142	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr1:145608142C>A	ENST00000334163.3	-	4	715	c.555G>T	c.(553-555)aaG>aaT	p.K185N	POLR3C_ENST00000369294.1_Missense_Mutation_p.K185N|POLR3C_ENST00000471254.1_5'UTR|RNF115_ENST00000369291.5_5'Flank	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	185					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.K185N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GGTACATGTCCTTTTCATTAA	0.468																																						uc001eog.3																			1	Substitution - Missense(1)	p.K185N(1)	lung(1)	breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(592-594)aaG>aaT		Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.							167.0	162.0	163.0					1																	145608142		2203	4300	6503	SO:0001583	missense	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145608142C>A	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.555G>T	1.37:g.145608142C>A	ENSP00000334564:p.Lys185Asn					RNF115_uc001eoj.3_5'Flank|POLR3C_uc001eoh.3_Missense_Mutation_p.K185N|POLR3C_uc009wix.3_Missense_Mutation_p.K185N	p.K198N	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		3	637	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		185					O15317|Q9Y3R6	Missense_Mutation	SNP	ENST00000334163.3	37	c.594G>T	CCDS921.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.220886	0.39201	.	.	ENSG00000186141	ENST00000334163;ENST00000369294	T;T	0.50548	0.74;0.74	5.62	3.69	0.42338	RNA polymerase III Rpc82, C -terminal (1);	0.152062	0.64402	D	0.000018	T	0.19685	0.0473	L	0.48642	1.525	0.40429	D	0.979927	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.001;0.002	T	0.05386	-1.0888	10	0.21540	T	0.41	-23.0196	9.2467	0.37529	0.0:0.8142:0.0:0.1858	.	185;185;185	E9PHH9;Q9BUI4;Q53F76	.;RPC3_HUMAN;.	N	185	ENSP00000334564:K185N;ENSP00000358300:K185N	ENSP00000334564:K185N	K	-	3	2	POLR3C	144319499	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	2.584000	0.46102	0.669000	0.31146	-0.140000	0.14226	AAG		0.468	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		4	135	0	0	0	1	0	4	135				
ALMS1	7840	broad.mit.edu	37	2	73828375	73828375	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr2:73828375A>T	ENST00000264448.6	+	19	12034	c.11923A>T	c.(11923-11925)Aac>Tac	p.N3975Y	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.N3933Y	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3975					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAAGAAGGAAAACGTGCCTAA	0.468																																						uc002sje.1																			0		p.N3975N(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						c.(11923-11925)Aac>Tac		Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.							112.0	123.0	119.0					2																	73828375		2188	4296	6484	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73828375A>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.11923A>T	2.37:g.73828375A>T	ENSP00000264448:p.Asn3975Tyr					ALMS1_uc002sjf.1_Missense_Mutation_p.N3933Y|ALMS1_uc002sjh.1_Missense_Mutation_p.N3363Y	p.N3975Y	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			18	12034	+			3975					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.11923A>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021739	0.54576	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.08546	3.08;3.08	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000005	T	0.22044	0.0531	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	T	0.00318	-1.1821	10	0.87932	D	0	.	13.0184	0.58771	1.0:0.0:0.0:0.0	.	3933;3975	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	Y	3933;3975	ENSP00000386627:N3933Y;ENSP00000264448:N3975Y	ENSP00000264448:N3975Y	N	+	1	0	ALMS1	73681883	1.000000	0.71417	0.993000	0.49108	0.309000	0.27889	4.763000	0.62257	2.182000	0.69389	0.459000	0.35465	AAC		0.468	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		6	203	0	0	0	1	0	6	203				
NR3C2	4306	broad.mit.edu	37	4	149075797	149075797	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr4:149075797G>C	ENST00000358102.3	-	5	2632	c.2270C>G	c.(2269-2271)tCa>tGa	p.S757*	NR3C2_ENST00000344721.4_Nonsense_Mutation_p.S757*|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Nonsense_Mutation_p.S761*|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000355292.3_Nonsense_Mutation_p.S761*|RP11-76G10.1_ENST00000514843.1_RNA	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	757	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)	ATCTGGTTTTGAGCTGTCATA	0.493																																					Melanoma(27;428 957 40335 51025 51111)	uc003ilj.4																			0		p.S756C(1)		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.(2269-2271)tCa>tGa		Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)						208.0	204.0	205.0					4																	149075797		2203	4300	6503	SO:0001587	stop_gained	4306				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.chr4:149075797G>C	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.2270C>G	4.37:g.149075797G>C	ENSP00000350815:p.Ser757*					NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	p.S757*	NM_000901	NP_000892	P08235	MCR_HUMAN		GBM - Glioblastoma multiforme(119;0.0614)	4	2633	-	all_hematologic(180;0.151)		757			Steroid-binding.		B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Nonsense_Mutation	SNP	ENST00000358102.3	37	c.2270C>G	CCDS3772.1	.	.	.	.	.	.	.	.	.	.	G	44	11.115931	0.99518	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000511528	.	.	.	5.91	5.91	0.95273	.	0.190944	0.46758	D	0.000262	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	757;761;757;761	.	.	S	-	2	0	NR3C2	149295247	1.000000	0.71417	0.538000	0.28064	0.752000	0.42762	7.912000	0.87465	2.793000	0.96121	0.655000	0.94253	TCA		0.493	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364986.1			4	215	0	0	0	1	0	4	215				
PRDM2	7799	broad.mit.edu	37	1	14059320	14059320	+	Silent	SNP	A	A	G			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr1:14059320A>G	ENST00000235372.7	+	4	1030	c.174A>G	c.(172-174)ccA>ccG	p.P58P	PRDM2_ENST00000376048.5_Silent_p.P58P|PRDM2_ENST00000311066.5_Silent_p.P58P	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	58	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AATTTGGGCCATTTGTTGGTG	0.289																																						uc001avi.3																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(172-174)ccA>ccG		Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.							57.0	61.0	60.0					1																	14059320		2203	4295	6498	SO:0001819	synonymous_variant	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14059320A>G	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.174A>G	1.37:g.14059320A>G						PRDM2_uc001avg.3_Silent_p.P58P|PRDM2_uc001avh.3_Silent_p.P58P	p.P58P	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	3	1030	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	58			SET.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	c.174A>G	CCDS150.1																																																																																				0.289	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		3	59	0	0	0	1	0	3	59				
KLHL14	57565	broad.mit.edu	37	18	30349946	30349946	+	Silent	SNP	C	C	T			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr18:30349946C>T	ENST00000359358.4	-	2	1047	c.609G>A	c.(607-609)aaG>aaA	p.K203K	KLHL14_ENST00000358095.4_Silent_p.K203K|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	203						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGTTGGCCAGCTTCTTGGTCT	0.627																																						uc002kxm.1																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(607-609)aaG>aaA		Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.							117.0	92.0	100.0					18																	30349946		2203	4300	6503	SO:0001819	synonymous_variant	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349946C>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.609G>A	18.37:g.30349946C>T							p.K203K	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			1	997	-			203					A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	c.609G>A	CCDS32813.1																																																																																				0.627	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			4	114	0	0	0	1	0	4	114				
TSPAN33	340348	broad.mit.edu	37	7	128801563	128801563	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr7:128801563T>C	ENST00000289407.4	+	2	255	c.146T>C	c.(145-147)cTa>cCa	p.L49P		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	49					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TACGCTCGGCTAATGAAGCAT	0.572																																						uc003vop.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(145-147)cTa>cCa		Homo sapiens tetraspanin 33 (TSPAN33), mRNA.							242.0	185.0	205.0					7																	128801563		2203	4300	6503	SO:0001583	missense	340348					integral to membrane		g.chr7:128801563T>C		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.146T>C	7.37:g.128801563T>C	ENSP00000289407:p.Leu49Pro						p.L49P	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN			1	255	+			49						Missense_Mutation	SNP	ENST00000289407.4	37	c.146T>C	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.819325	0.32145	.	.	ENSG00000158457	ENST00000289407	T	0.79454	-1.27	4.95	4.95	0.65309	.	0.165334	0.43260	D	0.000587	D	0.84079	0.5393	M	0.74467	2.265	0.80722	D	1	P	0.51537	0.946	P	0.56163	0.793	D	0.85706	0.1316	10	0.59425	D	0.04	-25.3258	12.5972	0.56476	0.0:0.0:0.0:1.0	.	49	Q86UF1	TSN33_HUMAN	P	49	ENSP00000289407:L49P	ENSP00000289407:L49P	L	+	2	0	TSPAN33	128588799	1.000000	0.71417	0.996000	0.52242	0.027000	0.11550	6.282000	0.72639	1.868000	0.54150	0.533000	0.62120	CTA		0.572	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		3	175	0	0	0	1	0	3	175				
HACE1	57531	broad.mit.edu	37	6	105198273	105198273	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr6:105198273C>A	ENST00000262903.4	-	20	2562	c.2286G>T	c.(2284-2286)caG>caT	p.Q762H	HACE1_ENST00000369125.2_Missense_Mutation_p.Q547H|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	762	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TATGAAAGCCCTGTAAAAAAG	0.383																																						uc003pqu.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44						c.(2284-2286)caG>caT		Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.							111.0	105.0	107.0					6																	105198273		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105198273C>A	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2286G>T	6.37:g.105198273C>A	ENSP00000262903:p.Gln762His					HACE1_uc010kcy.1_Missense_Mutation_p.Q244H|HACE1_uc010kcz.1_Missense_Mutation_p.Q547H|HACE1_uc010kcx.1_Missense_Mutation_p.Q171H|HACE1_uc003pqt.1_Missense_Mutation_p.Q415H	p.Q762H	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	19	2563	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	762			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.2286G>T	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966103	0.53507	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.58210	0.35;0.35	5.3	1.5	0.22942	HECT (4);	0.054165	0.85682	D	0.000000	T	0.42787	0.1218	L	0.35593	1.075	0.24617	N	0.993692	D;D;P;P	0.61697	0.99;0.962;0.728;0.799	D;P;P;B	0.74674	0.984;0.52;0.505;0.371	T	0.36601	-0.9741	10	0.66056	D	0.02	.	9.5813	0.39490	0.0:0.5734:0.0:0.4266	.	547;251;762;415	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	H	762;547	ENSP00000262903:Q762H;ENSP00000358121:Q547H	ENSP00000262903:Q762H	Q	-	3	2	HACE1	105304966	0.988000	0.35896	1.000000	0.80357	0.861000	0.49209	0.258000	0.18387	0.245000	0.21373	-0.253000	0.11424	CAG		0.383	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		3	43	0	0	0	1	0	3	43				
POU2F2	5452	broad.mit.edu	37	19	42603703	42603703	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr19:42603703C>A	ENST00000526816.2	-	7	492	c.477G>T	c.(475-477)caG>caT	p.Q159H	POU2F2_ENST00000560398.1_Missense_Mutation_p.Q181H|POU2F2_ENST00000533720.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000560558.1_Missense_Mutation_p.Q120H|POU2F2_ENST00000529952.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000342301.4_Missense_Mutation_p.Q159H|POU2F2_ENST00000529067.1_Missense_Mutation_p.Q159H|POU2F2_ENST00000389341.5_Missense_Mutation_p.Q159H			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	159					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CGGCCCGGGGCTGGGAGGTCA	0.607																																						uc002osp.3																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(475-477)caG>caT		Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.							42.0	44.0	43.0					19																	42603703		2203	4300	6503	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42603703C>A		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.477G>T	19.37:g.42603703C>A	ENSP00000431603:p.Gln159His					POU2F2_uc002osn.3_Missense_Mutation_p.Q159H|POU2F2_uc002osq.3_Missense_Mutation_p.Q159H|POU2F2_uc002osr.2_Missense_Mutation_p.Q159H	p.Q159H	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN			6	539	-		Prostate(69;0.059)	159					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.477G>T	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659375	0.67586	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D	0.85258	-1.77;-1.96;-1.89;-1.58;-1.85	4.84	3.81	0.43845	.	0.224628	0.37577	N	0.002034	D	0.89577	0.6755	M	0.66297	2.02	0.33449	D	0.583462	P;P;D	0.57571	0.831;0.947;0.98	P;P;P	0.61592	0.712;0.459;0.891	D	0.93004	0.6426	10	0.87932	D	0	.	12.7305	0.57195	0.0:0.9188:0.0:0.0812	.	159;159;159	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	H	159;159;159;159;158;159;159	ENSP00000373992:Q159H;ENSP00000339369:Q159H;ENSP00000437221:Q159H;ENSP00000437224:Q159H;ENSP00000436988:Q159H	ENSP00000292077:Q159H	Q	-	3	2	POU2F2	47295543	0.997000	0.39634	1.000000	0.80357	0.969000	0.65631	0.439000	0.21575	1.420000	0.47138	-0.126000	0.14955	CAG		0.607	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3			14	32	0	0	0	1	0	14	32				
INTU	27152	broad.mit.edu	37	4	128627849	128627850	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EM-A3AN-01A-11D-A202-08	TCGA-EM-A3AN-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bba4dfcb-3dbf-4eb9-ae6f-1e3c244b9030	3bc1a6ec-1aa4-460a-ba1f-9571a8693ef6	g.chr4:128627849_128627850insA	ENST00000335251.6	+	12	2099_2100	c.1996_1997insA	c.(1996-1998)gaafs	p.E666fs		NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	666					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TGGATCACGTGAAAAAACAGAT	0.465																																						uc003ifk.2																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1996-1998)gaafs		Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.																																				SO:0001589	frameshift_variant	27152							g.chr4:128627849_128627850insA	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.2002dupA	4.37:g.128627855_128627855dupA	ENSP00000334003:p.Glu666fs					INTU_uc011cgq.2_Non-coding_Transcript	p.E666fs	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			11	2099_2100	+			666					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Frame_Shift_Ins	INS	ENST00000335251.6	37	c.1996_1997insA	CCDS34061.1																																																																																				0.465	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		40	87						40	87	---	---	---	---
