#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
APOB	338	broad.mit.edu	37	2	21230694	21230694	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr2:21230694C>A	ENST00000233242.1	-	26	9173	c.9046G>T	c.(9046-9048)Gag>Tag	p.E3016*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3016					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGTAAACTCTGCCTTCCCT	0.423																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(9046-9048)Gag>Tag		apolipoprotein B	Atorvastatin(DB01076)						65.0	68.0	67.0					2																	21230694		2203	4300	6503	SO:0001587	stop_gained	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230694C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9046G>T	2.37:g.21230694C>A	ENSP00000233242:p.Glu3016*						p.E3016*	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	9173	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3016					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Nonsense_Mutation	SNP	ENST00000233242.1	37	c.9046G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	50	16.465662	0.99864	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	.	.	.	5.87	4.95	0.65309	.	0.107337	0.41294	D	0.000910	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	10.8027	0.46497	0.0:0.797:0.1327:0.0703	.	.	.	.	X	3016	.	ENSP00000233242:E3016X	E	-	1	0	APOB	21084199	0.992000	0.36948	0.856000	0.33681	0.927000	0.56198	3.246000	0.51414	2.780000	0.95670	0.655000	0.94253	GAG		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			20	46	1	0	1.56452e-12	1	1.78182e-12	20	46				
PTH2R	5746	broad.mit.edu	37	2	209302540	209302540	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr2:209302540A>C	ENST00000272847.2	+	4	558	c.345A>C	c.(343-345)ttA>ttC	p.L115F	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	115					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TGCACAGCTTAAATAAAACAT	0.413																																						ENST00000272847.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43						c.(343-345)ttA>ttC		parathyroid hormone 2 receptor							89.0	87.0	88.0					2																	209302540		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209302540A>C	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.345A>C	2.37:g.209302540A>C	ENSP00000272847:p.Leu115Phe					PTH2R_ENST00000413482.1_3'UTR	p.L115F	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	4	558	+			115					Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.345A>C	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359310	0.24598	.	.	ENSG00000144407	ENST00000272847	T	0.37915	1.17	5.25	1.47	0.22746	GPCR, family 2, extracellular hormone receptor domain (3);	0.188116	0.25017	N	0.033784	T	0.37320	0.0999	L	0.51422	1.61	0.28412	N	0.918153	P;P	0.45634	0.863;0.844	P;P	0.52267	0.556;0.694	T	0.17440	-1.0369	10	0.32370	T	0.25	.	5.3198	0.15876	0.6867:0.1499:0.1634:0.0	.	4;115	B4DFN8;P49190	.;PTH2R_HUMAN	F	115	ENSP00000272847:L115F	ENSP00000272847:L115F	L	+	3	2	PTH2R	209010785	0.915000	0.31059	0.993000	0.49108	0.780000	0.44128	0.720000	0.25896	0.071000	0.16664	0.383000	0.25322	TTA		0.413	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		8	53	0	0	0	1	0	8	53				
OR5M3	219482	broad.mit.edu	37	11	56237488	56237488	+	Silent	SNP	G	G	A	rs143720540	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr11:56237488G>A	ENST00000312240.2	-	1	526	c.486C>T	c.(484-486)taC>taT	p.Y162Y		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y162Y(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGTACAAGCCGTAAGTCCATA	0.398													g|||	5	0.000998403	0.0008	0.0	5008	,	,		19621	0.002		0.001	False		,,,				2504	0.001					ENST00000312240.2																			1	Substitution - coding silent(1)	p.Y162Y(1)	endometrium(1)	NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(484-486)taC>taT		olfactory receptor, family 5, subfamily M, member 3		G		0,4402		0,0,2201	121.0	111.0	114.0		486	-6.9	0.0	11	dbSNP_134	114	4,8586	3.7+/-12.6	0,4,4291	no	coding-synonymous	OR5M3	NM_001004742.2		0,4,6492	AA,AG,GG		0.0466,0.0,0.0308		162/308	56237488	4,12988	2201	4295	6496	SO:0001819	synonymous_variant	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237488G>A	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.486C>T	11.37:g.56237488G>A							p.Y162Y	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	526	-	Esophageal squamous(21;0.00448)		162					B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	c.486C>T	CCDS31532.1																																																																																				0.398	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		4	73	0	0	0	1	0	4	73				
SIGLEC11	114132	broad.mit.edu	37	19	50455611	50455611	+	Silent	SNP	G	G	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr19:50455611G>A	ENST00000447370.2	-	9	1782	c.1692C>T	c.(1690-1692)gcC>gcT	p.A564A	SIGLEC11_ENST00000426971.2_Silent_p.A468A|U3_ENST00000408198.1_RNA|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	564					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGCTCCCAGGGCAGCCCCCA	0.657																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1690-1692)gcC>gcT		sialic acid binding Ig-like lectin 11							71.0	73.0	72.0					19																	50455611		2203	4300	6503	SO:0001819	synonymous_variant	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50455611G>A	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1692C>T	19.37:g.50455611G>A						SIGLEC11_ENST00000426971.2_Silent_p.A468A|CTC-326K19.6_ENST00000451973.1_Intron	p.A564A	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	9	1782	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	564						Silent	SNP	ENST00000447370.2	37	c.1692C>T	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	G	3.798	-0.042314	0.07452	.	.	ENSG00000161640	ENST00000426971	.	.	.	3.21	-6.43	0.01926	.	.	.	.	.	T	0.24736	0.0600	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30357	-0.9981	4	.	.	.	.	6.4013	0.21640	0.2141:0.5021:0.2838:0.0	.	.	.	.	L	458	.	.	P	-	2	0	SIGLEC11	55147423	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.769000	0.01792	-1.249000	0.02500	-1.474000	0.01003	CCC		0.657	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		27	36	0	0	0	1	0	27	36				
SEL1L2	80343	broad.mit.edu	37	20	13830243	13830243	+	Missense_Mutation	SNP	G	G	A	rs199650783	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr20:13830243G>A	ENST00000284951.5	-	20	2029	c.1955C>T	c.(1954-1956)aCg>aTg	p.T652M	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.T539M			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	652						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTCCATCTCGTTGTGAACTG	0.483													G|||	4	0.000798722	0.0023	0.0	5008	,	,		15689	0.0		0.0	False		,,,				2504	0.001					ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1954-1956)aCg>aTg		sel-1 suppressor of lin-12-like 2 (C. elegans)		G	MET/THR	11,3967		0,11,1978	146.0	146.0	146.0		1955	-0.2	0.0	20		146	1,8321		0,1,4160	yes	missense	SEL1L2	NM_025229.1	81	0,12,6138	AA,AG,GG		0.012,0.2765,0.0976	benign	652/689	13830243	12,12288	1989	4161	6150	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830243G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1955C>T	20.37:g.13830243G>A	ENSP00000284951:p.Thr652Met					SEL1L2_ENST00000378072.5_Missense_Mutation_p.T539M|SEL1L2_ENST00000486903.1_5'UTR	p.T652M			Q5TEA6	SE1L2_HUMAN			20	2029	-			652					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.1955C>T		.	.	.	.	.	.	.	.	.	.	G	9.017	0.983913	0.18889	0.002765	1.2E-4	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.23147	1.92;2.23	5.17	-0.153	0.13403	.	0.886778	0.09839	N	0.749178	T	0.08582	0.0213	N	0.02802	-0.49	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.06405	0.002;0.0	T	0.28332	-1.0047	10	0.40728	T	0.16	2.6533	1.049	0.01575	0.5163:0.157:0.1751:0.1515	.	539;652	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	M	539;652	ENSP00000367312:T539M;ENSP00000284951:T652M	ENSP00000284951:T652M	T	-	2	0	SEL1L2	13778243	0.000000	0.05858	0.009000	0.14445	0.901000	0.52897	-0.049000	0.11924	-0.319000	0.08652	-0.266000	0.10368	ACG		0.483	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		11	37	0	0	0	1	0	11	37				
ARMCX2	9823	broad.mit.edu	37	X	100911988	100911988	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:100911988C>A	ENST00000328766.5	-	5	1040	c.587G>T	c.(586-588)gGt>gTt	p.G196V	ARMCX2_ENST00000356824.4_Missense_Mutation_p.G196V|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G196V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	196	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TACCCCAGGACCCTCGGTCAC	0.662																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(586-588)gGt>gTt		armadillo repeat containing, X-linked 2							25.0	24.0	24.0					X																	100911988		2194	4276	6470	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911988C>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.587G>T	X.37:g.100911988C>A	ENSP00000331662:p.Gly196Val					ARMCX2_ENST00000356824.4_Missense_Mutation_p.G196V|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G196V	p.G196V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1040	-			196			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.587G>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	4.219	0.039510	0.08148	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.30182	1.54;1.54;1.54	3.99	-2.58	0.06228	.	.	.	.	.	T	0.12646	0.0307	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24012	-1.0172	9	0.28530	T	0.3	.	5.6835	0.17790	0.3583:0.3872:0.2545:0.0	.	196	Q7L311	ARMX2_HUMAN	V	196	ENSP00000331662:G196V;ENSP00000328631:G196V;ENSP00000349281:G196V	ENSP00000331662:G196V	G	-	2	0	ARMCX2	100798644	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.598000	0.05706	-1.007000	0.03408	-1.886000	0.00541	GGT		0.662	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		19	34	1	0	1.45105e-14	1	1.80282e-14	19	34				
CCAR2	57805	broad.mit.edu	37	8	22476665	22476665	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:22476665G>T	ENST00000308511.4	+	20	2773	c.2524G>T	c.(2524-2526)Gag>Tag	p.E842*	RP11-582J16.5_ENST00000521025.1_RNA|BIN3_ENST00000519335.1_5'Flank|CCAR2_ENST00000389279.3_Nonsense_Mutation_p.E842*|CCAR2_ENST00000520861.1_Nonsense_Mutation_p.E517*			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	842	Interaction with NR1D1. {ECO:0000269|PubMed:23398316}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										CCTTGCAGAGGAGAGCCATAA	0.617																																						ENST00000308511.4																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25						c.(2524-2526)Gag>Tag									19.0	19.0	19.0					8																	22476665		2200	4299	6499	SO:0001587	stop_gained	0				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22476665G>T	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.2524G>T	8.37:g.22476665G>T	ENSP00000310670:p.Glu842*					KIAA1967_ENST00000389279.3_Nonsense_Mutation_p.E842*|KIAA1967_ENST00000520861.1_Nonsense_Mutation_p.E517*	p.E842*			Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	20	2773	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	842					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Nonsense_Mutation	SNP	ENST00000308511.4	37	c.2524G>T	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.624880|10.624880	0.99439|0.99439	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861|ENST00000520738	.|.	.|.	.|.	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	0.141007|.	0.48286|.	D|.	0.000185|.	.|T	.|0.69735	.|0.3144	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67233	.|-0.5722	.|4	0.37606|.	T|.	0.19|.	-28.3095|-28.3095	14.2988|14.2988	0.66331|0.66331	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|S	842;842;517|533	.|.	ENSP00000310670:E842X|.	E|R	+|+	1|3	0|2	KIAA1967|KIAA1967	22532610|22532610	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.823000|0.823000	0.46562|0.46562	5.513000|5.513000	0.67037|0.67037	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GAG|AGG		0.617	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		5	15	1	0	1.23904e-05	1	1.33686e-05	5	15				
MRGPRX2	117194	broad.mit.edu	37	11	19077011	19077011	+	Missense_Mutation	SNP	A	A	C	rs117328742	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr11:19077011A>C	ENST00000329773.2	-	2	1026	c.939T>G	c.(937-939)agT>agG	p.S313R		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	313					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCATCCTTCACTGTGATCCA	0.557													A|||	8	0.00159744	0.0	0.0043	5008	,	,		18306	0.0		0.005	False		,,,				2504	0.0				GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(937-939)agT>agG		MAS-related GPR, member X2		A	ARG/SER	6,4392		0,6,2193	66.0	67.0	67.0		939	-1.7	0.0	11	dbSNP_132	67	50,8536		0,50,4243	yes	missense	MRGPRX2	NM_054030.2	110	0,56,6436	CC,CA,AA		0.5823,0.1364,0.4313	possibly-damaging	313/331	19077011	56,12928	2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077011A>C		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.939T>G	11.37:g.19077011A>C	ENSP00000333800:p.Ser313Arg						p.S313R	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	1026	-			313					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.939T>G	CCDS7847.1	6	0.0027472527472527475	0	0.0	2	0.0055248618784530384	0	0.0	4	0.005277044854881266	.	9.994	1.231715	0.22626	0.001364	0.005823	ENSG00000183695	ENST00000329773	T	0.06068	3.35	4.71	-1.73	0.08081	.	1.970010	0.02118	N	0.055375	T	0.06325	0.0163	L	0.37750	1.13	0.09310	N	1	D	0.54047	0.964	P	0.48304	0.573	T	0.37314	-0.9711	10	0.36615	T	0.2	.	8.9356	0.35697	0.5669:0.0:0.4331:0.0	.	313	Q96LB1	MRGX2_HUMAN	R	313	ENSP00000333800:S313R	ENSP00000333800:S313R	S	-	3	2	MRGPRX2	19033587	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.210000	0.09345	-0.299000	0.08909	0.528000	0.53228	AGT		0.557	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		5	65	0	0	0	1	0	5	65				
CNIH4	29097	broad.mit.edu	37	1	224544627	224544627	+	Start_Codon_SNP	SNP	A	A	T	rs201055685		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:224544627A>T	ENST00000465271.1	+	1	76	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	CNIH4_ENST00000366858.3_Start_Codon_SNP_p.M1L|CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366856.3_Start_Codon_SNP_p.M1L|CNIH4_ENST00000366857.5_Start_Codon_SNP_p.M1L	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	1					intracellular signal transduction (GO:0035556)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		GAGGAGGAGGATGGAGGCGGT	0.647																																						ENST00000465271.1																			0				kidney(3)|lung(2)|ovary(2)	7						c.(1-3)Atg>Ttg		cornichon family AMPA receptor auxiliary protein 4							185.0	133.0	150.0					1																	224544627		2202	4300	6502	SO:0001582	initiator_codon_variant	29097				intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding	g.chr1:224544627A>T		CCDS1543.1, CCDS60429.1, CCDS60430.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143771	ENSG00000143771			25013	protein-coding gene	gene with protein product			"""cornichon homolog 4 (Drosophila)"""			11042152	Standard	NM_014184		Approved	HSPC163	uc001hom.2	Q9P003	OTTHUMG00000037635	ENST00000465271.1:c.1A>T	1.37:g.224544627A>T	ENSP00000420443:p.Met1Leu					CNIH4_ENST00000366858.3_Start_Codon_SNP_p.M1L|CNIH4_ENST00000366856.3_Start_Codon_SNP_p.M1L|CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366857.5_Start_Codon_SNP_p.M1L	p.M1L	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN		GBM - Glioblastoma multiforme(131;0.00341)	1	76	+			1					A8K1Q8|B2R553|Q9H0X8	Translation_Start_Site	SNP	ENST00000465271.1	37	c.1A>T	CCDS1543.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.570483	0.86542	.	.	ENSG00000143771	ENST00000465271;ENST00000366858;ENST00000366857;ENST00000366856	T;T;T;T	0.42131	1.09;1.04;0.98;1.08	4.09	4.09	0.47781	.	0.080740	0.85682	N	0.000000	T	0.56499	0.1989	.	.	.	0.80722	D	1	B	0.31009	0.303	P	0.48795	0.59	T	0.62661	-0.6807	9	0.87932	D	0	-17.1206	12.4644	0.55749	1.0:0.0:0.0:0.0	.	1	Q9P003	CNIH4_HUMAN	L	1	ENSP00000420443:M1L;ENSP00000355823:M1L;ENSP00000355822:M1L;ENSP00000355821:M1L	ENSP00000355821:M1L	M	+	1	0	CNIH4	222611250	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	7.077000	0.76814	1.833000	0.53350	0.260000	0.18958	ATG		0.647	CNIH4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091754.1	NM_014184	Missense_Mutation	3	1	0	0	0	1	0	3	1				
AIM1	202	broad.mit.edu	37	6	106968615	106968615	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr6:106968615A>T	ENST00000369066.3	+	2	2795	c.2308A>T	c.(2308-2310)Atg>Ttg	p.M770L		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTACATTTGATGCAGAACCT	0.453																																						ENST00000369066.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(2308-2310)Atg>Ttg		absent in melanoma 1							78.0	77.0	77.0					6																	106968615		2203	4300	6503	SO:0001583	missense	202						sugar binding	g.chr6:106968615A>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.2308A>T	6.37:g.106968615A>T	ENSP00000358062:p.Met770Leu						p.M770L	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	2	2795	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	770					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	37	c.2308A>T	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	A	9.601	1.128696	0.21041	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.69926	-0.44	5.97	0.564	0.17302	.	0.939589	0.09121	N	0.845727	T	0.23330	0.0564	N	0.16656	0.425	0.58432	D	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.30327	-0.9982	10	0.08599	T	0.76	.	7.905	0.29757	0.4754:0.3177:0.0:0.207	.	770	Q9Y4K1	AIM1_HUMAN	L	1178;770	ENSP00000358062:M770L	ENSP00000285105:M1178L	M	+	1	0	AIM1	107075308	0.996000	0.38824	0.957000	0.39632	0.898000	0.52572	0.524000	0.22940	0.491000	0.27793	0.533000	0.62120	ATG		0.453	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1			38	47	0	0	0	1	0	38	47				
SLC26A9	115019	broad.mit.edu	37	1	205892719	205892719	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:205892719G>C	ENST00000367135.3	-	14	1632	c.1519C>G	c.(1519-1521)Cag>Gag	p.Q507E	SLC26A9_ENST00000367134.2_Missense_Mutation_p.Q507E|SLC26A9_ENST00000340781.4_Missense_Mutation_p.Q507E	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	507					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)	p.Q507K(1)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TCCATGACCTGGGCCAGTGCA	0.493																																						ENST00000367135.3																			1	Substitution - Missense(1)	p.Q507K(1)	breast(1)	NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(1519-1521)Cag>Gag		solute carrier family 26 (anion exchanger), member 9							113.0	103.0	106.0					1																	205892719		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205892719G>C	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1519C>G	1.37:g.205892719G>C	ENSP00000356103:p.Gln507Glu					SLC26A9_ENST00000367134.2_Missense_Mutation_p.Q507E|SLC26A9_ENST00000340781.4_Missense_Mutation_p.Q507E	p.Q507E	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		14	1632	-	Breast(84;0.201)		507					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.1519C>G	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314738	0.60524	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92647	-3.08;-3.06;-3.08	5.62	5.62	0.85841	.	0.137761	0.48286	D	0.000182	D	0.92153	0.7512	M	0.81942	2.565	0.48135	D	0.999591	B;B	0.34015	0.199;0.435	B;B	0.30179	0.061;0.112	D	0.92050	0.5647	10	0.66056	D	0.02	.	18.227	0.89921	0.0:0.0:1.0:0.0	.	507;507	Q7LBE3;B1AVM8	S26A9_HUMAN;.	E	507	ENSP00000341682:Q507E;ENSP00000356103:Q507E;ENSP00000356102:Q507E	ENSP00000341682:Q507E	Q	-	1	0	SLC26A9	204159342	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.456000	0.73501	2.625000	0.88918	0.655000	0.94253	CAG		0.493	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		16	28	0	0	0	1	0	16	28				
DBR1	51163	broad.mit.edu	37	3	137886109	137886109	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr3:137886109C>A	ENST00000260803.4	-	5	681	c.528G>T	c.(526-528)tgG>tgT	p.W176C	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	176					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TACTTCTTGGCCAATCATGAG	0.328																																						ENST00000260803.4																			0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(526-528)tgG>tgT		debranching RNA lariats 1							49.0	53.0	52.0					3																	137886109		2203	4300	6503	SO:0001583	missense	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137886109C>A	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.528G>T	3.37:g.137886109C>A	ENSP00000260803:p.Trp176Cys					DBR1_ENST00000505015.2_5'UTR	p.W176C	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN			5	681	-			176					Q96GH0|Q9NXQ6	Missense_Mutation	SNP	ENST00000260803.4	37	c.528G>T	CCDS33863.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129842	0.77549	.	.	ENSG00000138231	ENST00000260803	T	0.47528	0.84	5.28	5.28	0.74379	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	H	0.98133	4.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88022	0.2769	10	0.87932	D	0	-29.0773	16.4145	0.83729	0.0:1.0:0.0:0.0	.	176	Q9UK59	DBR1_HUMAN	C	176	ENSP00000260803:W176C	ENSP00000260803:W176C	W	-	3	0	DBR1	139368799	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.467000	0.83353	0.650000	0.86243	TGG		0.328	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1			3	34	1	0	0.115264	1	0.115264	3	34				
PXDNL	137902	broad.mit.edu	37	8	52339273	52339273	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:52339273A>G	ENST00000356297.4	-	13	1671	c.1571T>C	c.(1570-1572)gTt>gCt	p.V524A	PXDNL_ENST00000543296.1_Missense_Mutation_p.V524A	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	524	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ATTCTTTCCAACCTCGACACT	0.338																																						ENST00000356297.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1570-1572)gTt>gCt		peroxidasin homolog (Drosophila)-like							120.0	107.0	111.0					8																	52339273		1859	4108	5967	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52339273A>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1571T>C	8.37:g.52339273A>G	ENSP00000348645:p.Val524Ala					PXDNL_ENST00000543296.1_Missense_Mutation_p.V524A	p.V524A	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN			13	1671	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	524			Ig-like C2-type 4.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1571T>C	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.548349	0.00926	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.77358	-1.09;-1.09	4.18	0.309	0.15820	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63651	0.2529	L	0.33339	1.005	0.19300	N	0.999974	B	0.21753	0.06	B	0.29353	0.101	T	0.47861	-0.9084	9	0.15066	T	0.55	.	6.3655	0.21453	0.6669:0.0:0.3331:0.0	.	524	A1KZ92	PXDNL_HUMAN	A	524	ENSP00000348645:V524A;ENSP00000444865:V524A	ENSP00000348645:V524A	V	-	2	0	PXDNL	52501826	0.016000	0.18221	0.040000	0.18447	0.014000	0.08584	-0.085000	0.11250	-0.123000	0.11745	-0.263000	0.10527	GTT		0.338	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		3	5	0	0	0	1	0	3	5				
CXorf65	158830	broad.mit.edu	37	X	70324246	70324246	+	Missense_Mutation	SNP	G	G	A	rs199887066		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:70324246G>A	ENST00000374251.5	-	5	376	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	110										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						CATTGTATGCGCAGTGCAACT	0.478																																						ENST00000374251.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						c.(328-330)Cgc>Tgc		chromosome X open reading frame 65		G	CYS/ARG	0,3835		0,0,0,1632,571	59.0	44.0	49.0		328	2.0	0.9	X		49	2,6726		0,1,1,2427,1871	no	missense	CXorf65	NM_001025265.2	180	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	benign	110/184	70324246	2,10561	2203	4300	6503	SO:0001583	missense	158830							g.chrX:70324246G>A	BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.328C>T	X.37:g.70324246G>A	ENSP00000363369:p.Arg110Cys					CXorf65_ENST00000485951.1_5'UTR	p.R110C			A6NEN9	CX065_HUMAN			5	375	-			110						Missense_Mutation	SNP	ENST00000374251.5	37	c.328C>T	CCDS35324.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789377	0.31685	0.0	2.97E-4	ENSG00000204165	ENST00000374251;ENST00000438526	T;T	0.58060	0.36;0.48	3.91	1.96	0.26148	.	0.607210	0.16074	N	0.230827	T	0.29321	0.0730	N	0.15975	0.35	0.23673	N	0.997143	B	0.24132	0.098	B	0.18871	0.023	T	0.15235	-1.0444	10	0.56958	D	0.05	-7.1756	3.644	0.08177	0.1354:0.0:0.6223:0.2423	.	110	A6NEN9	CX065_HUMAN	C	110	ENSP00000363369:R110C;ENSP00000411354:R110C	ENSP00000363369:R110C	R	-	1	0	CXorf65	70240971	0.058000	0.20735	0.906000	0.35671	0.377000	0.30045	0.770000	0.26618	0.793000	0.33875	-0.190000	0.12839	CGC		0.478	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265		3	16	0	0	0	1	0	3	16				
C11orf70	85016	broad.mit.edu	37	11	101951999	101951999	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr11:101951999A>C	ENST00000434758.2	+	6	690	c.662A>C	c.(661-663)aAa>aCa	p.K221T	C11orf70_ENST00000526781.1_Missense_Mutation_p.K221T	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	221										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		TCTGTCTTTAAAGTTTCAGCT	0.313																																						ENST00000434758.2																			0				breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(661-663)aAa>aCa		chromosome 11 open reading frame 70							86.0	87.0	87.0					11																	101951999		2203	4296	6499	SO:0001583	missense	85016							g.chr11:101951999A>C	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.662A>C	11.37:g.101951999A>C	ENSP00000414390:p.Lys221Thr					C11orf70_ENST00000526781.1_Missense_Mutation_p.K221T	p.K221T	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	6	690	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	221					E9PJU1	Missense_Mutation	SNP	ENST00000434758.2	37	c.662A>C	CCDS8313.2	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655073	0.67472	.	.	ENSG00000137691	ENST00000434758;ENST00000526781;ENST00000423732	.	.	.	5.74	5.74	0.90152	.	0.123303	0.64402	D	0.000001	T	0.70369	0.3216	M	0.81239	2.535	0.80722	D	1	D	0.56746	0.977	P	0.55923	0.787	T	0.75001	-0.3471	9	0.72032	D	0.01	-16.1292	10.3638	0.44010	0.9228:0.0:0.0772:0.0	.	221	Q9BRQ4	CK070_HUMAN	T	221;221;183	.	ENSP00000392150:K183T	K	+	2	0	C11orf70	101457209	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.490000	0.60319	2.317000	0.78254	0.460000	0.39030	AAA		0.313	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		10	29	0	0	0	1	0	10	29				
KCNV2	169522	broad.mit.edu	37	9	2718725	2718725	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr9:2718725G>A	ENST00000382082.3	+	1	1224	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	329					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GACCTGAGGCGCTTCGCGCGC	0.672																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(985-987)cGc>cAc		potassium channel, subfamily V, member 2							45.0	51.0	49.0					9																	2718725		2203	4297	6500	SO:0001583	missense	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718725G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.986G>A	9.37:g.2718725G>A	ENSP00000371514:p.Arg329His						p.R329H	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1224	+			329					Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	37	c.986G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039658	0.35989	.	.	ENSG00000168263	ENST00000382082	D	0.97752	-4.52	5.22	4.3	0.51218	Ion transport (1);	0.447666	0.26383	N	0.024684	D	0.94052	0.8094	L	0.37897	1.145	0.50813	D	0.999892	B	0.18166	0.026	B	0.14578	0.011	D	0.90117	0.4196	10	0.44086	T	0.13	.	6.6104	0.22749	0.1519:0.152:0.6962:0.0	.	329	Q8TDN2	KCNV2_HUMAN	H	329	ENSP00000371514:R329H	ENSP00000371514:R329H	R	+	2	0	KCNV2	2708725	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.499000	0.53310	1.156000	0.42514	0.563000	0.77884	CGC		0.672	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		16	37	0	0	0	1	0	16	37				
PDZD2	23037	broad.mit.edu	37	5	32087441	32087441	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr5:32087441C>A	ENST00000438447.1	+	20	4275	c.3887C>A	c.(3886-3888)gCa>gAa	p.A1296E	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1296E			O15018	PDZD2_HUMAN	PDZ domain containing 2	1296					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGGAGAAAGCAGCGGCTCCC	0.652																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(3886-3888)gCa>gAa		PDZ domain containing 2							54.0	63.0	60.0					5																	32087441		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32087441C>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3887C>A	5.37:g.32087441C>A	ENSP00000402033:p.Ala1296Glu					PDZD2_ENST00000282493.3_Missense_Mutation_p.A1296E	p.A1296E			O15018	PDZD2_HUMAN			20	4275	+			1296					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.3887C>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791997	0.50102	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.08546	3.08;3.08	3.69	2.82	0.32997	.	0.558311	0.14980	N	0.287305	T	0.12135	0.0295	L	0.50333	1.59	0.09310	N	1	D	0.54047	0.964	P	0.50314	0.637	T	0.11348	-1.0591	10	0.40728	T	0.16	.	7.0641	0.25141	0.0:0.8765:0.0:0.1235	.	1296	O15018	PDZD2_HUMAN	E	1296;1097;1296	ENSP00000402033:A1296E;ENSP00000282493:A1296E	ENSP00000282493:A1296E	A	+	2	0	PDZD2	32123198	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.423000	0.21313	1.124000	0.41980	0.655000	0.94253	GCA		0.652	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			26	55	1	0	1.85244e-09	1	2.05271e-09	26	55				
FLNA	2316	broad.mit.edu	37	X	153593301	153593301	+	Silent	SNP	G	G	A	rs201550267		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:153593301G>A	ENST00000369850.3	-	12	1952	c.1716C>T	c.(1714-1716)acC>acT	p.T572T	FLNA_ENST00000360319.4_Silent_p.T572T|FLNA_ENST00000422373.1_Silent_p.T572T|FLNA_ENST00000344736.4_Silent_p.T572T	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	572					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(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)					TGCCACACTCGGTGCCCACCT	0.642																																						ENST00000422373.1																			0				breast(6)	6						c.(1714-1716)acC>acT		filamin A, alpha			,	1,3602		0,1,0,1515,571	89.0	100.0	97.0		1716,1716	-8.6	0.2	X		97	4,6563		0,2,2,2375,1811	no	coding-synonymous,coding-synonymous	FLNA	NM_001110556.1,NM_001456.3	,	0,3,2,3890,2382	AA,AG,A,GG,G		0.0609,0.0278,0.0492	,	572/2648,572/2640	153593301	5,10165	2087	4190	6277	SO:0001819	synonymous_variant	0				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153593301G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1716C>T	X.37:g.153593301G>A						FLNA_ENST00000369850.3_Silent_p.T572T|FLNA_ENST00000344736.4_Silent_p.T572T|FLNA_ENST00000360319.4_Silent_p.T572T	p.T572T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN			12	1964	-	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)		572					E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	c.1716C>T	CCDS48194.1																																																																																				0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			7	156	0	0	0	1	0	7	156				
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ATGACAAGATCGTTGGGGGCT	0.557													c|||	4427	0.883986	0.7814	0.9452	5008	,	,		10861	0.8641		0.9642	False		,,,				2504	0.9172					ENST00000603901.1																			0																				103.0	70.0	80.0					7																	142479940		692	1590	2282			0							g.chr7:142479940C>T			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142479940C>T								NR_001296.3						0	72	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.557	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	35	0	0	0	1	0	3	35				
ZNF467	168544	broad.mit.edu	37	7	149463284	149463284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:149463284G>A	ENST00000302017.3	-	5	720	c.307C>T	c.(307-309)Cag>Tag	p.Q103*	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGCCTCCTGATCTTCGTCC	0.542																																						ENST00000302017.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13						c.(307-309)Cag>Tag		zinc finger protein 467							114.0	96.0	102.0					7																	149463284		2203	4300	6503	SO:0001587	stop_gained	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149463284G>A	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.307C>T	7.37:g.149463284G>A	ENSP00000304769:p.Gln103*					ZNF467_ENST00000484747.1_Intron	p.Q103*	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	720	-	Melanoma(164;0.165)|Ovarian(565;0.177)		103						Nonsense_Mutation	SNP	ENST00000302017.3	37	c.307C>T	CCDS5899.1	.	.	.	.	.	.	.	.	.	.	g	38	6.699744	0.97772	.	.	ENSG00000181444	ENST00000302017	.	.	.	4.57	2.44	0.29823	.	0.937050	0.08641	U	0.915489	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-6.6904	3.8069	0.08780	0.0928:0.1631:0.5762:0.1679	.	.	.	.	X	103	.	ENSP00000304769:Q103X	Q	-	1	0	ZNF467	149094217	0.001000	0.12720	0.994000	0.49952	0.968000	0.65278	0.889000	0.28282	2.074000	0.62210	0.552000	0.68991	CAG		0.542	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		19	28	0	0	0	1	0	19	28				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	45	0	0	0	1	0	4	45				
SPATS1	221409	broad.mit.edu	37	6	44336175	44336175	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr6:44336175C>T	ENST00000288390.2	+	5	981	c.634C>T	c.(634-636)Cca>Tca	p.P212S	SPATS1_ENST00000323108.8_Missense_Mutation_p.P212S|RP11-444E17.6_ENST00000505802.1_3'UTR			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	212										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATATATGTACCCAGAACAGAG	0.378																																						ENST00000288390.2																			0				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.(634-636)Cca>Tca		spermatogenesis associated, serine-rich 1							122.0	118.0	119.0					6																	44336175		2203	4300	6503	SO:0001583	missense	221409							g.chr6:44336175C>T	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.634C>T	6.37:g.44336175C>T	ENSP00000424400:p.Pro212Ser					SPATS1_ENST00000323108.8_Missense_Mutation_p.P212S	p.P212S			Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	981	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		212					Q496A2|Q496A5|Q96LJ0	Missense_Mutation	SNP	ENST00000288390.2	37	c.634C>T	CCDS4911.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378426	0.61735	.	.	ENSG00000249481	ENST00000323108;ENST00000288390	T;T	0.51817	0.69;0.69	5.11	2.32	0.28847	.	0.128413	0.35262	N	0.003334	T	0.47377	0.1442	M	0.63843	1.955	0.29176	N	0.876792	D	0.89917	1.0	D	0.91635	0.999	T	0.35943	-0.9768	10	0.59425	D	0.04	.	7.9125	0.29800	0.0:0.7222:0.0:0.2778	.	212	Q496A3	SPAS1_HUMAN	S	212	ENSP00000437552:P212S;ENSP00000424400:P212S	ENSP00000424400:P212S	P	+	1	0	SPATS1	44444153	0.780000	0.28664	0.995000	0.50966	0.963000	0.63663	0.811000	0.27198	0.662000	0.31006	0.655000	0.94253	CCA		0.378	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		11	47	0	0	0	1	0	11	47				
TAX1BP1	8887	broad.mit.edu	37	7	27856087	27856087	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:27856087T>A	ENST00000396319.2	+	14	1972	c.1884T>A	c.(1882-1884)aaT>aaA	p.N628K	TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.N652K|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000543117.1_Intron	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	628					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CATTGTCAAATGCACAACCAG	0.378																																						ENST00000396319.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1882-1884)aaT>aaA		Tax1 (human T-cell leukemia virus type I) binding protein 1							160.0	156.0	157.0					7																	27856087		2203	4300	6503	SO:0001583	missense	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27856087T>A	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1884T>A	7.37:g.27856087T>A	ENSP00000379612:p.Asn628Lys					TAX1BP1_ENST00000433216.2_Intron|TAX1BP1_ENST00000265393.6_Intron|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.N652K|TAX1BP1_ENST00000543117.1_Intron	p.N628K	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		14	1972	+			628					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	c.1884T>A	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	T	0.969	-0.700815	0.03279	.	.	ENSG00000106052	ENST00000409980;ENST00000396319	T;T	0.09073	3.04;3.02	5.84	4.7	0.59300	.	1.179470	0.06322	N	0.704571	T	0.08492	0.0211	L	0.29908	0.895	0.35269	D	0.780269	B	0.02656	0.0	B	0.08055	0.003	T	0.15435	-1.0437	9	.	.	.	0.6194	11.3192	0.49410	0.0:0.0705:0.0:0.9295	.	628	Q86VP1	TAXB1_HUMAN	K	652;628	ENSP00000386515:N652K;ENSP00000379612:N628K	.	N	+	3	2	TAX1BP1	27822612	0.020000	0.18652	0.069000	0.20011	0.582000	0.36321	1.655000	0.37345	2.232000	0.73038	0.533000	0.62120	AAT		0.378	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		37	73	0	0	0	1	0	37	73				
VPS53	55275	broad.mit.edu	37	17	465847	465847	+	Silent	SNP	T	T	C	rs370664941		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr17:465847T>C	ENST00000571805.1	-	14	1588	c.1452A>G	c.(1450-1452)caA>caG	p.Q484Q	VPS53_ENST00000437048.2_Silent_p.Q484Q|VPS53_ENST00000446250.2_Silent_p.Q286Q|VPS53_ENST00000401468.3_Silent_p.Q207Q|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Silent_p.Q455Q|VPS53_ENST00000576149.1_5'UTR			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	484					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCTGAGAGCATTGCACCATGC	0.567																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(1450-1452)caA>caG		vacuolar protein sorting 53 homolog (S. cerevisiae)		C	,	0,4406		0,0,2203	86.0	79.0	81.0		1452,1365	4.1	1.0	17		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS53	NM_001128159.2,NM_018289.3	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	484/833,455/671	465847	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:465847T>C		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1452A>G	17.37:g.465847T>C						VPS53_ENST00000401468.3_Silent_p.Q207Q|VPS53_ENST00000291074.5_Silent_p.Q455Q|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000446250.2_Silent_p.Q286Q|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000571805.1_Silent_p.Q484Q	p.Q484Q	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	14	1598	-			484					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Silent	SNP	ENST00000571805.1	37	c.1452A>G																																																																																					0.567	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		6	59	0	0	0	1	0	6	59				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	33	0	0	0	1	0	4	33				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		20	44	0	0	0	1	0	20	44				
PLEC	5339	broad.mit.edu	37	8	144994984	144994984	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr8:144994984C>T	ENST00000322810.4	-	32	9585	c.9416G>A	c.(9415-9417)cGa>cAa	p.R3139Q	PLEC_ENST00000398774.2_Missense_Mutation_p.R2970Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R3025Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R3002Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R3029Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R3002Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2980Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R3006Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R2988Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3139	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCTCACCTCGCTGCAGCTG	0.687																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(9415-9417)cGa>cAa		plectin							20.0	24.0	23.0					8																	144994984		2057	4163	6220	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144994984C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9416G>A	8.37:g.144994984C>T	ENSP00000323856:p.Arg3139Gln					PLEC_ENST00000354589.3_Missense_Mutation_p.R3002Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R2988Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R3025Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R3029Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R3006Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2970Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R3002Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2980Q	p.R3139Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	9585	-			3139			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9416G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	4.521	0.096753	0.08681	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	4.6	-6.59	0.01830	.	0.750881	0.11464	N	0.561429	T	0.20210	0.0486	N	0.00325	-1.645	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.36672	-0.9738	10	0.10902	T	0.67	.	5.0996	0.14753	0.0987:0.2079:0.0986:0.5948	.	3029;2988;2980;3139;2970;3002;3006;3002	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	3002;3006;3002;2970;3139;2980;2988;3029;3025	ENSP00000344848:R3002Q;ENSP00000350277:R3006Q;ENSP00000346602:R3002Q;ENSP00000381756:R2970Q;ENSP00000323856:R3139Q;ENSP00000347044:R2980Q;ENSP00000348702:R2988Q;ENSP00000388180:R3029Q;ENSP00000434583:R3025Q	ENSP00000323856:R3139Q	R	-	2	0	PLEC	145066972	0.040000	0.19996	0.221000	0.23827	0.005000	0.04900	-0.423000	0.07034	-1.800000	0.01247	-1.688000	0.00730	CGA		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		19	23	0	0	0	1	0	19	23				
AKR7L	246181	broad.mit.edu	37	1	19597420	19597420	+	RNA	SNP	G	G	T	rs12046875	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:19597420G>T	ENST00000429712.1	-	0	343				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GGCCTTGGTAGCAATTTTCAC	0.532													g|||	828	0.165335	0.1135	0.1499	5008	,	,		18451	0.1607		0.1998	False		,,,				2504	0.2157					ENST00000420396.2																			0				breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6								aldo-keto reductase family 7-like				181,1203		17,147,528	38.0	33.0	35.0			3.0	0.9	1	dbSNP_120	35	601,2581		58,485,1048	no	intergenic				75,632,1576	TT,TG,GG		18.8875,13.078,17.1266			19597420	782,3784	692	1591	2283			246181							g.chr1:19597420G>T			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19597420G>T						AKR7L_ENST00000429712.1_RNA								0	223	-								Q5U614	RNA	SNP	ENST00000429712.1	37			350|350	0.16025641025641027|0.16025641025641027	55|55	0.11178861788617886|0.11178861788617886	51|51	0.1408839779005525|0.1408839779005525	85|85	0.1486013986013986|0.1486013986013986	159|159	0.20976253298153033|0.20976253298153033	G|G	15.44|15.44	2.835096|2.835096	0.50951|0.50951	0.13078|0.13078	0.188875|0.188875	ENSG00000211454|ENSG00000211454	ENST00000429712;ENST00000388886|ENST00000457194	.|.	.|.	.|.	3.93|3.93	3.01|3.01	0.34805|0.34805	NADP-dependent oxidoreductase domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.00073|0.00073	0.0002|0.0002	.|.	.|.	.|.	0.09310|0.09310	P|P	1.0|1.0	B;B|.	0.22276|.	0.017;0.067|.	B;P|.	0.47470|.	0.041;0.548|.	T|T	0.06445|0.06445	-1.0826|-1.0826	7|3	0.42905|.	T|.	0.14|.	.|.	11.9855|11.9855	0.53145|0.53145	0.0:0.0:0.8252:0.1748|0.0:0.0:0.8252:0.1748	rs12046875;rs52804162;rs12046875|rs12046875;rs52804162;rs12046875	75;75|.	F8W7D9;Q8NHP1|.	.;ARK74_HUMAN|.	D|I	75|31	.|.	ENSP00000373538:A75D|.	A|L	-|-	2|1	0|2	AKR7L|AKR7L	19470007|19470007	1.000000|1.000000	0.71417|0.71417	0.906000|0.906000	0.35671|0.35671	0.406000|0.406000	0.30931|0.30931	7.099000|7.099000	0.76981|0.76981	1.001000|1.001000	0.39076|0.39076	-0.277000|-0.277000	0.10078|0.10078	GCT|CTA		0.532	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		3	34	1	0	0.00024832	1	0.000261054	3	34				
VCAM1	7412	broad.mit.edu	37	1	101198098	101198098	+	Silent	SNP	C	C	A			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr1:101198098C>A	ENST00000294728.2	+	7	1751	c.1650C>A	c.(1648-1650)ctC>ctA	p.L550L	VCAM1_ENST00000347652.2_Silent_p.L458L|VCAM1_ENST00000370119.4_Silent_p.L488L|VCAM1_ENST00000370115.1_Silent_p.L351L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	550	Ig-like C2-type 6.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GCAGGCAGCTCCCTAACGGGG	0.478																																						ENST00000294728.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1648-1650)ctC>ctA		vascular cell adhesion molecule 1	Carvedilol(DB01136)						43.0	47.0	46.0					1																	101198098		2203	4300	6503	SO:0001819	synonymous_variant	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101198098C>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1650C>A	1.37:g.101198098C>A						VCAM1_ENST00000370115.1_Silent_p.L351L|VCAM1_ENST00000370119.4_Silent_p.L488L|VCAM1_ENST00000347652.2_Silent_p.L458L	p.L550L	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	7	1751	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	550			Ig-like C2-type 6.		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Silent	SNP	ENST00000294728.2	37	c.1650C>A	CCDS773.1																																																																																				0.478	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		8	56	1	0	0.00307968	1	0.00315667	8	56				
LINC01122	400955	broad.mit.edu	37	2	58687298	58687298	+	lincRNA	DEL	T	T	-	rs570654914		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr2:58687298delT	ENST00000452840.1	+	0	127																											TCTGTGTTTCTTTTTTTTTTC	0.313																																						ENST00000452840.1																			0																																																			0							g.chr2:58687298delT																													2.37:g.58687298delT														0	127	+									RNA	DEL	ENST00000452840.1	37																																																																																						0.313	AC007092.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000327022.1			2	4						2	4	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-162)gcccgc>gcGCCccgc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup					KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR	p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1177_1178	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	53			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		7	4						7	4	---	---	---	---
SOWAHA	134548	broad.mit.edu	37	5	132150581	132150581	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr5:132150581delA	ENST00000378693.2	+	1	1549	c.1268delA	c.(1267-1269)tacfs	p.Y423fs	AC004775.5_ENST00000607389.1_lincRNA	NM_175873.4	NP_787069.3	Q2M3V2	SWAHA_HUMAN	sosondowah ankyrin repeat domain family member A	423																	CGTCGCGCCTACCAGTACCTG	0.701																																						ENST00000378693.2																			0											c.(1267-1269)tcfs		sosondowah ankyrin repeat domain family member A																																				SO:0001589	frameshift_variant	134548							g.chr5:132150581delA	AK090823	CCDS43361.1	5q23.3	2013-01-10	2012-01-12	2012-01-12	ENSG00000198944	ENSG00000198944		"""Ankyrin repeat domain containing"""	27033	protein-coding gene	gene with protein product			"""ankyrin repeat domain 43"""	ANKRD43		22234889	Standard	NM_175873		Approved		uc003kxw.3	Q2M3V2	OTTHUMG00000059844	ENST00000378693.2:c.1268delA	5.37:g.132150581delA	ENSP00000367965:p.Tyr423fs						p.Y423fs	NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN			1	1549	+			423					Q8NAE7	Frame_Shift_Del	DEL	ENST00000378693.2	37	c.1268delA	CCDS43361.1																																																																																				0.701	SOWAHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133062.1	NM_175873		2	4						2	4	---	---	---	---
SOX4	6659	broad.mit.edu	37	6	21595252	21595263	+	In_Frame_Del	DEL	GGGGGCGGCCAT	GGGGGCGGCCAT	-	rs542004893	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr6:21595252_21595263delGGGGGCGGCCAT	ENST00000244745.1	+	1	1281_1292	c.487_498delGGGGGCGGCCAT	c.(487-498)gggggcggccatdel	p.GGGH163del	SOX4_ENST00000543472.1_In_Frame_Del_p.GGGH163del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	163					ascending aorta morphogenesis (GO:0035910)|atrial septum primum morphogenesis (GO:0003289)|canonical Wnt signaling pathway (GO:0060070)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle formation (GO:0003211)|cellular response to glucose stimulus (GO:0071333)|DNA damage response, detection of DNA damage (GO:0042769)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endocrine pancreas development (GO:0031018)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|kidney morphogenesis (GO:0060993)|limb bud formation (GO:0060174)|mitral valve morphogenesis (GO:0003183)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein ubiquitination (GO:0031397)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|noradrenergic neuron differentiation (GO:0003357)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin secretion (GO:0032024)|positive regulation of N-terminal peptidyl-lysine acetylation (GO:2000761)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of Wnt signaling pathway (GO:0030177)|pro-B cell differentiation (GO:0002328)|protein stabilization (GO:0050821)|regulation of protein stability (GO:0031647)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spinal cord development (GO:0021510)|spinal cord motor neuron differentiation (GO:0021522)|sympathetic nervous system development (GO:0048485)|T cell differentiation (GO:0030217)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			tggcagtggcgggggcggccatgggggcggcg	0.731																																						ENST00000244745.1																			0				kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6						c.(487-498)del		SRY (sex determining region Y)-box 4				11,3129		5,1,1564						2.5	1.0			5	40,6808		7,26,3391	no	coding	SOX4	NM_003107.2		12,27,4955	A1A1,A1R,RR		0.5841,0.3503,0.5106				51,9937				SO:0001651	inframe_deletion	6659				canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity	g.chr6:21595252_21595263delGGGGGCGGCCAT	AF070669	CCDS4547.1	6p22.3	2008-02-05			ENSG00000124766	ENSG00000124766		"""SRY (sex determining region Y)-boxes"""	11200	protein-coding gene	gene with protein product		184430				8268656, 9730625	Standard	NM_003107		Approved		uc003ndi.3	Q06945	OTTHUMG00000016101	ENST00000244745.1:c.487_498delGGGGGCGGCCAT	6.37:g.21595252_21595263delGGGGGCGGCCAT	ENSP00000244745:p.Gly163_His166del					SOX4_ENST00000543472.1_In_Frame_Del_p.GGGH163del	p.GGGH163del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	all cancers(50;0.0751)|Epithelial(50;0.155)		1	1281_1292	+	Ovarian(93;0.163)		163						In_Frame_Del	DEL	ENST00000244745.1	37	c.487_498delGGGGGCGGCCAT	CCDS4547.1																																																																																				0.731	SOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043301.1	NM_003107		4	2						4	2	---	---	---	---
AC005077.5	0	broad.mit.edu	37	7	75804673	75804673	+	RNA	DEL	A	A	-			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr7:75804673delA	ENST00000437494.1	+	0	57																											atctcgaaccaaaaaaaaaag	0.542																																						ENST00000437494.1																			0																																																			0							g.chr7:75804673delA																													7.37:g.75804673delA														0	57	+									RNA	DEL	ENST00000437494.1	37																																																																																						0.542	AC005077.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344669.1			2	4						2	4	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	4	6						4	6	---	---	---	---
CSPG4P5	114817	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-	rs554759799|rs529134831|rs548880213	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249									DNM1 pseudogene 51																		TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586														762	0.152157	0.146	0.3256	5008	,	,		24353	0.1339		0.1481	False		,,,				2504	0.0603					ENST00000558801.1																			0																																																			0							g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84957480_84957499delGGCCCCACATCCATTGAGAA														0	7230_7249	-									RNA	DEL	ENST00000558801.1	37																																																																																						0.586	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471721.1			8	16						8	16	---	---	---	---
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707|rs111725167|rs68056278	byFrequency	TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)agctccaac>aac	p.SS69del	FAM174B_ENST00000555748.1_5'Flank|FAM174B_ENST00000555696.1_5'Flank	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714														4884	0.97524	0.9092	0.9942	5008	,	,		6551	1.0		1.0	False		,,,				2504	1.0					ENST00000327355.5																			0				endometrium(2)|lung(1)	3						c.(205-213)aac>a		family with sequence similarity 174, member B				1931,417		927,77,170						2.2	1.0		dbSNP_130	8	5234,70		2614,6,32	no	coding	FAM174B	NM_207446.2		3541,83,202	A1A1,A1R,RR		1.3198,17.7598,6.3643				7165,487				SO:0001651	inframe_deletion	400451					integral to membrane		g.chr15:93198679_93198684delTGGAGC		CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.206_211delGCTCCA	15.37:g.93198685_93198690delTGGAGC	ENSP00000329040:p.Ser69_Ser70del						p.SSN69del	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN			1	504_509	-			69					Q3ZCR9|Q8NBH7	In_Frame_Del	DEL	ENST00000327355.5	37	c.206_211delGCTCCA	CCDS45355.1																																																																																				0.714	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446		7	3						7	3	---	---	---	---
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs398100042|rs2981599		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr16:3119304_3119305insG	ENST00000534507.1	+	6	864_865	c.653_654insG	c.(652-657)gacaagfs	p.DK218fs	IL32_ENST00000530890.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.DK196fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.DK132fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000525643.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.DK162fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.DK218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.DK209fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.DK163fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.DK152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.DK172fs|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000526464.2_Frame_Shift_Ins_p.DK172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.DK115fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.DK172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574																																						ENST00000525643.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						c.(514-516)gaafs		interleukin 32																																				SO:0001589	frameshift_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119304_3119305insG	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	Exception_encountered	16.37:g.3119304_3119305insG	ENSP00000431775:p.Asp218fs					IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs	p.E172fs			P24001	IL32_HUMAN			7	847_848	+			218					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Frame_Shift_Ins	INS	ENST00000534507.1	37	c.515_516insG																																																																																					0.574	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221		17	184						17	184	---	---	---	---
NPIPB5	100132247	broad.mit.edu	37	16	22545452	22545454	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chr16:22545452_22545454delATA	ENST00000517539.1	+	8	1223_1225	c.1148_1150delATA	c.(1147-1152)gataat>gat	p.N384del	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000424340.1_In_Frame_Del_p.N384del			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	384	Pro-rich.					integral component of membrane (GO:0016021)											TCAGCGGATGATAATCTCAAGAC	0.576																																						ENST00000424340.1																			0											c.(1147-1152)gat>g		nuclear pore complex interacting protein family, member B5																																				SO:0001651	inframe_deletion	100132247							g.chr16:22545452_22545454delATA		CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1148_1150delATA	16.37:g.22545452_22545454delATA	ENSP00000430633:p.Asn384del					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_In_Frame_Del_p.DN383del	p.DN383del	NM_001135865.1	NP_001129337.1					7	1427_1429	+								B4DK13	In_Frame_Del	DEL	ENST00000517539.1	37	c.1148_1150delATA	CCDS45443.1																																																																																				0.576	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		3	5						3	5	---	---	---	---
RP1-154K9.2	0	broad.mit.edu	37	X	42384501	42384501	+	lincRNA	DEL	A	A	-	rs58099801		TCGA-BJ-A0Z9-01A-11D-A10S-08	TCGA-BJ-A0Z9-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	498dad0c-0eb2-47a1-8a9a-819e7e3aa289	f58ba787-903f-4adf-8a27-4378692a9dd0	g.chrX:42384501delA	ENST00000411879.1	+	0	523																											ttgtctcaggaaaaaaaaaaa	0.418													|||unknown(HR)	465	0.123179	0.1483	0.0807	3775	,	,		9566	0.0506		0.0398	False		,,,				2504	0.1247					ENST00000411879.1																			0																																																			0							g.chrX:42384501delA																													X.37:g.42384501delA														0	523	+									RNA	DEL	ENST00000411879.1	37																																																																																						0.418	RP1-154K9.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000056295.1			2	4						2	4	---	---	---	---
