#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
SBF1	6305	broad.mit.edu	37	22	50893710	50893710	+	Silent	SNP	G	G	A	rs377500587		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr22:50893710G>A	ENST00000390679.3	-	32	4603	c.4419C>T	c.(4417-4419)gcC>gcT	p.A1473A	SBF1_ENST00000348911.6_Silent_p.A1474A|SBF1_ENST00000380817.3_Silent_p.A1499A|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1473	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCTGCCCGGCCAGGGTGT	0.667																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(4495-4497)gcC>gcT		SET binding factor 1		G		1,4203		0,1,2101	28.0	37.0	34.0		4497	-7.7	0.8	22		34	0,8448		0,0,4224	no	coding-synonymous	SBF1	NM_002972.2		0,1,6325	AA,AG,GG		0.0,0.0238,0.0079		1499/1894	50893710	1,12651	2102	4224	6326	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50893710G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4419C>T	22.37:g.50893710G>A						SBF1_ENST00000348911.6_Silent_p.A1474A|SBF1_ENST00000390679.3_Silent_p.A1473A	p.A1499A	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	33	4680	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1473			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.4497C>T		.	.	.	.	.	.	.	.	.	.	G	10.02	1.236524	0.22711	2.38E-4	0.0	ENSG00000100241	ENST00000418590	.	.	.	3.84	-7.68	0.01268	.	.	.	.	.	T	0.34250	0.0891	.	.	.	0.53688	D	0.999979	.	.	.	.	.	.	T	0.37526	-0.9702	4	.	.	.	.	1.5654	0.02603	0.4566:0.1746:0.194:0.1749	.	.	.	.	W	33	.	.	R	-	1	2	SBF1	49240576	0.000000	0.05858	0.813000	0.32504	0.952000	0.60782	-1.245000	0.02899	-1.921000	0.01068	-0.339000	0.08088	CGG		0.667	SBF1-201	KNOWN	basic	protein_coding	protein_coding				4	32	0	0	0	1	0	4	32				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			3	119	0	0	0	1	0	3	119				
WDR83	84292	broad.mit.edu	37	19	12780860	12780860	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:12780860C>A	ENST00000418543.3	+	4	522	c.173C>A	c.(172-174)aCg>aAg	p.T58K	WDR83_ENST00000242796.4_Missense_Mutation_p.T58K|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000222190.5_5'Flank|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	58					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						CTTCGGGGGACGCTGCTGCGG	0.677																																						ENST00000418543.3																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(172-174)aCg>aAg		WD repeat domain 83							45.0	49.0	47.0					19																	12780860		2203	4300	6503	SO:0001583	missense	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12780860C>A	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.173C>A	19.37:g.12780860C>A	ENSP00000402653:p.Thr58Lys					WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.T58K	p.T58K	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN			4	522	+			58					B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	c.173C>A	CCDS12275.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763506	0.89932	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.58060	0.36;0.36	5.3	3.12	0.35913	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.090966	0.85682	D	0.000000	T	0.27524	0.0676	N	0.04063	-0.285	0.53688	D	0.999976	P	0.48503	0.911	P	0.45538	0.484	T	0.25467	-1.0131	10	0.02654	T	1	.	10.1688	0.42897	0.0:0.7864:0.1373:0.0762	.	58	Q9BRX9	WDR83_HUMAN	K	58	ENSP00000402653:T58K;ENSP00000242796:T58K	ENSP00000242796:T58K	T	+	2	0	WDR83	12641860	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.231000	0.58639	0.700000	0.31782	-0.140000	0.14226	ACG		0.677	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		3	75	1	0	1	1	1	3	75				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		3	150	0	0	0	1	0	3	150				
ELAVL2	1993	broad.mit.edu	37	9	23731123	23731123	+	Splice_Site	SNP	C	C	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:23731123C>G	ENST00000397312.2	-	3	504	c.230G>C	c.(229-231)gGg>gCg	p.G77A	ELAVL2_ENST00000223951.6_Splice_Site_p.G77A|ELAVL2_ENST00000380110.4_Splice_Site_p.G106A|ELAVL2_ENST00000380117.1_Splice_Site_p.G77A|ELAVL2_ENST00000544538.1_Splice_Site_p.G77A	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	77	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CAAGCTCTGCCCTAATGAAAA	0.393																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.e3-1		ELAV like neuron-specific RNA binding protein 2							106.0	88.0	94.0					9																	23731123		2203	4299	6502	SO:0001630	splice_region_variant	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23731123C>G	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.230-1G>C	9.37:g.23731123C>G						ELAVL2_ENST00000223951.6_Splice_Site_p.G77_splice|ELAVL2_ENST00000380117.1_Splice_Site_p.G77_splice|ELAVL2_ENST00000544538.1_Splice_Site_p.G77_splice|ELAVL2_ENST00000380110.4_Splice_Site_p.G106_splice	p.G77_splice	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	3	504	-			77			RRM 1.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Splice_Site	SNP	ENST00000397312.2	37	c.229_splice	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548904	0.86127	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.81330	2.79;-1.48;-1.48;-1.48;2.79	5.87	5.87	0.94306	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.87362	0.6158	M	0.91140	3.18	0.80722	D	1	B;P	0.48998	0.401;0.918	B;B	0.44108	0.146;0.441	D	0.89910	0.4051	10	0.87932	D	0	.	20.1777	0.98189	0.0:1.0:0.0:0.0	.	77;77	Q12926;Q12926-2	ELAV2_HUMAN;.	A	77;77;77;77;77;105;77	ENSP00000223951:G77A;ENSP00000380479:G77A;ENSP00000440998:G77A;ENSP00000369460:G77A;ENSP00000412602:G77A	ENSP00000223951:G77A	G	-	2	0	ELAVL2	23721123	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.248000	0.78268	2.941000	0.99782	0.655000	0.94253	GGG		0.393	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	Missense_Mutation	17	28	0	0	0	1	0	17	28				
PACS2	23241	broad.mit.edu	37	14	105849745	105849745	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr14:105849745G>A	ENST00000325438.8	+	16	2167	c.1663G>A	c.(1663-1665)Gga>Aga	p.G555R	PACS2_ENST00000447393.1_Missense_Mutation_p.G559R|PACS2_ENST00000430725.2_Missense_Mutation_p.G480R|PACS2_ENST00000551743.1_Missense_Mutation_p.G69R|PACS2_ENST00000547217.1_Missense_Mutation_p.G525R|PACS2_ENST00000458164.2_Missense_Mutation_p.G559R			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	555					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CGCCGTGGCGGGAGCGCAGCA	0.642																																						ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(1675-1677)Gga>Aga		phosphofurin acidic cluster sorting protein 2							64.0	64.0	64.0					14																	105849745		2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105849745G>A	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1663G>A	14.37:g.105849745G>A	ENSP00000321834:p.Gly555Arg					PACS2_ENST00000551743.1_Missense_Mutation_p.G69R|PACS2_ENST00000547217.1_Missense_Mutation_p.G525R|PACS2_ENST00000430725.2_Missense_Mutation_p.G480R|PACS2_ENST00000458164.2_Missense_Mutation_p.G559R|PACS2_ENST00000325438.8_Missense_Mutation_p.G555R	p.G559R	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	16	1850	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	555					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.1675G>A	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550940	0.86127	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.82967	0.5152	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	0.994;0.99;0.973;1.0	D	0.86651	0.1898	10	0.87932	D	0	-30.4412	15.3881	0.74718	0.0:0.0:1.0:0.0	.	559;559;555;556	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	R	480;555;559;559;525;69	ENSP00000393524:G480R;ENSP00000321834:G555R;ENSP00000399732:G559R;ENSP00000393559:G559R;ENSP00000449525:G525R;ENSP00000449254:G69R	ENSP00000321834:G555R	G	+	1	0	PACS2	104920790	1.000000	0.71417	0.803000	0.32268	0.942000	0.58702	9.594000	0.98254	2.037000	0.60232	0.462000	0.41574	GGA		0.642	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		3	111	0	0	0	1	0	3	111				
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C	rs199967915	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818									DNM1 pseudogene 47																		CACAGCGGCGTGACGAGACTC	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102304772T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304772T>C														0	12818	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	35	0	0	0	1	0	3	35				
MECOM	2122	broad.mit.edu	37	3	168819875	168819875	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:168819875C>T	ENST00000464456.1	-	9	3353	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	MECOM_ENST00000460814.1_Missense_Mutation_p.R718Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R727Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R906Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R728Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R728Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R792Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R727Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTTCCCTTCCGCAGAAGGTT	0.502																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2152-2154)cGg>cAg		MDS1 and EVI1 complex locus							68.0	65.0	66.0					3																	168819875		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168819875C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2153G>A	3.37:g.168819875C>T	ENSP00000419770:p.Arg718Gln					MECOM_ENST00000468789.1_Missense_Mutation_p.R727Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R906Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R718Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R728Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R728Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R727Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R792Q	p.R718Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			9	3353	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2153G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028087	0.93518	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07021	3.26;3.23;3.26;3.36;3.25;3.23;3.25;3.36	5.45	5.45	0.79879	.	0.095984	0.43747	D	0.000527	T	0.18676	0.0448	L	0.61218	1.895	0.80722	D	1	P;D;B;B;B	0.56521	0.647;0.976;0.367;0.178;0.258	B;P;B;B;B	0.48704	0.124;0.587;0.091;0.027;0.04	T	0.00194	-1.1933	10	0.62326	D	0.03	-9.2499	19.688	0.95987	0.0:1.0:0.0:0.0	.	915;719;906;792;727	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Q	792;727;718;728;906;727;718;728	ENSP00000264674:R792Q;ENSP00000376493:R727Q;ENSP00000419770:R718Q;ENSP00000420048:R728Q;ENSP00000417899:R906Q;ENSP00000419995:R727Q;ENSP00000420466:R718Q;ENSP00000394302:R728Q	ENSP00000264674:R792Q	R	-	2	0	MECOM	170302569	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.434000	0.80377	2.730000	0.93505	0.655000	0.94253	CGG		0.502	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		15	41	0	0	0	1	0	15	41				
C6	729	broad.mit.edu	37	5	41159224	41159224	+	Nonsense_Mutation	SNP	G	G	A	rs191386155		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr5:41159224G>A	ENST00000263413.3	-	12	2080	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Nonsense_Mutation_p.R606*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	606	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCCTCTTGTCGCTTCTCCCCC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19718	0.001		0.0	False		,,,				2504	0.0					ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1816-1818)Cga>Tga		complement component 6							134.0	143.0	140.0					5																	41159224		2203	4300	6503	SO:0001587	stop_gained	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159224G>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1816C>T	5.37:g.41159224G>A	ENSP00000263413:p.Arg606*					C6_ENST00000337836.5_Nonsense_Mutation_p.R606*	p.R606*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			12	2080	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	606			TSP type-1 3.			Nonsense_Mutation	SNP	ENST00000263413.3	37	c.1816C>T	CCDS3936.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	37	6.024695	0.97211	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	5.64	0.227	0.15359	.	0.760891	0.13230	N	0.403706	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-2.9364	3.556	0.07865	0.0796:0.1783:0.3112:0.4309	.	.	.	.	X	606	.	ENSP00000263413:R606X	R	-	1	2	C6	41194981	0.000000	0.05858	0.008000	0.14137	0.249000	0.25844	0.686000	0.25392	0.114000	0.18032	-0.188000	0.12872	CGA		0.468	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			49	115	0	0	0	1	0	49	115				
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C	rs376579156	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.R447P(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1339-1341)cGt>cCt		zinc finger protein 844							60.0	54.0	56.0					19																	12187275		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187275G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1340G>C	19.37:g.12187275G>C	ENSP00000392024:p.Arg447Pro					ZNF844_ENST00000441304.2_3'UTR	p.R447P	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1515	+			447					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1340G>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	T	0.637	-0.814748	0.02776	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.03717	3.83	2.88	-3.56	0.04626	.	.	.	.	.	T	0.00524	0.0017	N	0.00049	-2.415	0.51482	D	0.999921	B	0.02656	0.0	B	0.01281	0.0	T	0.45175	-0.9279	9	0.02654	T	1	.	2.6221	0.04919	0.1164:0.4107:0.122:0.3509	.	447	Q08AG5	ZN844_HUMAN	P	447	ENSP00000392024:R447P	ENSP00000392024:R447P	R	+	2	0	ZNF844	12048275	0.000000	0.05858	0.012000	0.15200	0.001000	0.01503	-7.066000	0.00045	-0.984000	0.03507	-4.296000	0.00007	CGT		0.433	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			3	95	0	0	0	1	0	3	95				
KCNN1	3780	broad.mit.edu	37	19	18092575	18092575	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:18092575G>A	ENST00000222249.9	+	5	875	c.556G>A	c.(556-558)Gtg>Atg	p.V186M		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	186					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CTGCGAGCGCGTGTTCCTCAT	0.662																																						ENST00000601725.1																			0																				32.0	32.0	32.0					19																	18092575		2162	4238	6400	SO:0001583	missense	0							g.chr19:18092575G>A	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.556G>A	19.37:g.18092575G>A	ENSP00000476519:p.Val186Met													0	191	+								Q5KR10|Q6DJU4	RNA	SNP	ENST00000222249.9	37			.	.	.	.	.	.	.	.	.	.	G	15.63	2.890923	0.52014	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	5.04	1.47	0.22746	Potassium channel, calcium-activated, SK, conserved region (1);	0.065165	0.56097	D	0.000022	T	0.46483	0.1395	L	0.52759	1.655	0.33643	D	0.607461	P	0.47191	0.891	P	0.51487	0.671	T	0.57329	-0.7830	9	0.62326	D	0.03	-25.8078	5.3025	0.15785	0.5298:0.0:0.4702:0.0	.	186	Q92952	KCNN1_HUMAN	M	203;186	.	ENSP00000222249:V203M	V	+	1	0	KCNN1	17953575	0.999000	0.42202	0.010000	0.14722	0.529000	0.34654	3.651000	0.54431	0.533000	0.28675	0.561000	0.74099	GTG		0.662	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		11	44	0	0	0	1	0	11	44				
ZNF296	162979	broad.mit.edu	37	19	45579626	45579626	+	Silent	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:45579626G>A	ENST00000303809.2	-	1	220	c.6C>T	c.(4-6)tcC>tcT	p.S2S	CTB-179K24.3_ENST00000586744.1_RNA|GEMIN7_ENST00000391951.2_5'Flank|GEMIN7_ENST00000591607.1_5'Flank|GEMIN7_ENST00000591747.1_5'Flank|GEMIN7_ENST00000270257.4_5'Flank	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	2					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CCTTGCGGCGGGACATGAGTC	0.751																																						ENST00000303809.2																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						c.(4-6)tcC>tcT		zinc finger protein 296							9.0	11.0	11.0					19																	45579626		1866	3598	5464	SO:0001819	synonymous_variant	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45579626G>A	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.6C>T	19.37:g.45579626G>A							p.S2S	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN			1	220	-			2						Silent	SNP	ENST00000303809.2	37	c.6C>T	CCDS12653.1																																																																																				0.751	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		3	41	0	0	0	1	0	3	41				
C9orf172	389813	broad.mit.edu	37	9	139740894	139740894	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:139740894G>T	ENST00000436881.1	+	1	2028	c.2028G>T	c.(2026-2028)atG>atT	p.M676I	PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000371661.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	676										endometrium(2)|large_intestine(1)|lung(6)	9						CCGAGACCATGTTCAACGCCT	0.692																																						ENST00000436881.1																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(2026-2028)atG>atT		chromosome 9 open reading frame 172							23.0	28.0	26.0					9																	139740894		2070	4163	6233	SO:0001583	missense	389813							g.chr9:139740894G>T		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2028G>T	9.37:g.139740894G>T	ENSP00000412388:p.Met676Ile						p.M676I	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN			1	2028	+			676						Missense_Mutation	SNP	ENST00000436881.1	37	c.2028G>T	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	11.32	1.603592	0.28534	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.17	3.17	0.36434	.	.	.	.	.	T	0.40347	0.1113	L	0.31664	0.95	0.41330	D	0.987236	P	0.42941	0.794	B	0.39805	0.31	T	0.33650	-0.9860	8	0.33141	T	0.24	-13.9076	13.5	0.61449	0.0:0.0:1.0:0.0	.	676	C9J069	CI172_HUMAN	I	676	.	ENSP00000412388:M676I	M	+	3	0	C9orf172	138860715	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	6.266000	0.72540	1.600000	0.50102	0.164000	0.16699	ATG		0.692	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		3	48	1	0	1	1	1	3	48				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G|CTD-3105H18.14_ENST00000435033.1_Intron	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G	p.E557G			Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		4	53	0	0	0	1	0	4	53				
TRPM5	29850	broad.mit.edu	37	11	2432663	2432663	+	Missense_Mutation	SNP	G	G	A	rs367824428		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:2432663G>A	ENST00000155858.6	-	18	2709	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	TRPM5_ENST00000528453.1_Missense_Mutation_p.R901C|TRPM5_ENST00000452833.1_Missense_Mutation_p.R903C|TRPM5_ENST00000533060.1_Missense_Mutation_p.R901C	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACTCCAGGCGGCCGTCATGG	0.617																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2707-2709)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 5		G	CYS/ARG	0,4396		0,0,2198	33.0	37.0	36.0		2701	3.9	1.0	11		36	1,8587	1.2+/-3.3	0,1,4293	no	missense	TRPM5	NM_014555.3	180	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	901/1166	2432663	1,12983	2198	4294	6492	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2432663G>A	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2701C>T	11.37:g.2432663G>A	ENSP00000155858:p.Arg901Cys					TRPM5_ENST00000155858.6_Missense_Mutation_p.R901C|TRPM5_ENST00000533060.1_Missense_Mutation_p.R901C|TRPM5_ENST00000528453.1_Missense_Mutation_p.R901C	p.R903C			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	18	2715	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	901						Missense_Mutation	SNP	ENST00000155858.6	37	c.2707C>T	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538341	0.65085	0.0	1.16E-4	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	3.89	3.89	0.44902	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.984;0.969	D	0.88464	0.3057	10	0.59425	D	0.04	-23.2025	15.2605	0.73617	0.0:0.0:1.0:0.0	.	901;903;901	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	C	895;901;903;901;901	ENSP00000434383:R895C;ENSP00000155858:R901C;ENSP00000387965:R903C;ENSP00000434121:R901C;ENSP00000436809:R901C	ENSP00000155858:R901C	R	-	1	0	TRPM5	2389239	1.000000	0.71417	0.971000	0.41717	0.880000	0.50808	4.748000	0.62148	1.928000	0.55862	0.561000	0.74099	CGC		0.617	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		19	27	0	0	0	1	0	19	27				
XCL1	6375	broad.mit.edu	37	1	168549329	168549329	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:168549329G>C	ENST00000367818.3	+	2	255	c.90G>C	c.(88-90)agG>agC	p.R30S		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	30					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					CAGATAAGAGGACCTGTGTGA	0.458																																						ENST00000367818.3																			0				kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10						c.(88-90)agG>agC		chemokine (C motif) ligand 1							137.0	138.0	137.0					1																	168549329		2203	4300	6503	SO:0001583	missense	6375				CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	g.chr1:168549329G>C	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"""Endogenous ligands"""	10645	protein-coding gene	gene with protein product		600250	"""small inducible cytokine subfamily C, member 1 (lymphotactin)"""	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.90G>C	1.37:g.168549329G>C	ENSP00000356792:p.Arg30Ser						p.R30S	NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN			2	255	+	all_hematologic(923;0.208)		30					Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	c.90G>C	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.717673	0.00706	.	.	ENSG00000143184	ENST00000367818	T	0.04015	3.73	4.36	-7.71	0.01254	Chemokine interleukin-8-like domain (3);	0.673392	0.14425	N	0.320416	T	0.00241	0.0007	N	0.00471	-1.455	0.20703	N	0.99986	B	0.06786	0.001	B	0.04013	0.001	T	0.36187	-0.9758	9	0.02654	T	1	-4.923	1.4394	0.02350	0.2343:0.3592:0.2408:0.1656	.	30	P47992	XCL1_HUMAN	S	30	ENSP00000356792:R30S	ENSP00000356792:R30S	R	+	3	2	XCL1	166815953	0.000000	0.05858	0.000000	0.03702	0.382000	0.30200	-1.642000	0.02006	-1.268000	0.02439	-0.256000	0.11100	AGG		0.458	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		19	71	0	0	0	1	0	19	71				
OR2F2	135948	broad.mit.edu	37	7	143632698	143632698	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:143632698G>A	ENST00000408955.2	+	1	440	c.373G>A	c.(373-375)Gct>Act	p.A125T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCGCCATGTGGCTGTGTCTGA	0.557																																						ENST00000408955.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32						c.(373-375)Gct>Act		olfactory receptor, family 2, subfamily F, member 2							120.0	108.0	112.0					7																	143632698		2203	4300	6503	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632698G>A		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.373G>A	7.37:g.143632698G>A	ENSP00000386222:p.Ala125Thr						p.A125T	NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN			1	440	+	Melanoma(164;0.0903)		125					A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.373G>A	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500078	0.85176	.	.	ENSG00000221910	ENST00000408955	T	0.00912	5.55	3.68	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000088	T	0.08313	0.0207	H	0.94964	3.605	0.46981	D	0.999274	D	0.89917	1.0	D	0.87578	0.998	T	0.01235	-1.1410	10	0.87932	D	0	-22.9237	13.297	0.60303	0.0:0.0:1.0:0.0	.	125	O95006	OR2F2_HUMAN	T	125	ENSP00000386222:A125T	ENSP00000386222:A125T	A	+	1	0	OR2F2	143263631	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	7.670000	0.83925	2.046000	0.60703	0.491000	0.48974	GCT		0.557	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			35	89	0	0	0	1	0	35	89				
TSC22D1	8848	broad.mit.edu	37	13	45148696	45148696	+	Silent	SNP	T	T	C			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr13:45148696T>C	ENST00000458659.2	-	1	2005	c.1515A>G	c.(1513-1515)caA>caG	p.Q505Q	TSC22D1_ENST00000501704.2_Silent_p.Q505Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	505	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		gttgctgttgttgttgttgtt	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1513-1515)caA>caG		TSC22 domain family, member 1							86.0	86.0	86.0					13																	45148696		2203	4300	6503	SO:0001819	synonymous_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148696T>C	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1515A>G	13.37:g.45148696T>C						TSC22D1_ENST00000501704.2_Silent_p.Q505Q	p.Q505Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2005	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	505			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	c.1515A>G	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		42	80	0	0	0	1	0	42	80				
IGDCC3	9543	broad.mit.edu	37	15	65667629	65667629	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr15:65667629C>T	ENST00000327987.4	-	2	466	c.215G>A	c.(214-216)cGa>cAa	p.R72Q		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	72	Ig-like C2-type 1.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGGTGATTCGCACTGGAGG	0.592																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(214-216)cGa>cAa		immunoglobulin superfamily, DCC subclass, member 3							71.0	53.0	59.0					15																	65667629		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65667629C>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.215G>A	15.37:g.65667629C>T	ENSP00000332773:p.Arg72Gln						p.R72Q	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			2	466	-			72			Ig-like C2-type 1.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.215G>A	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	5.030	0.191255	0.09547	.	.	ENSG00000174498	ENST00000327987	T	0.65916	-0.18	5.63	2.74	0.32292	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.521330	0.16320	N	0.219604	T	0.41119	0.1145	N	0.17764	0.52	0.23776	N	0.996878	B	0.18310	0.027	B	0.15052	0.012	T	0.19976	-1.0289	10	0.21014	T	0.42	-0.948	6.6442	0.22927	0.0:0.5582:0.2219:0.22	.	72	Q8IVU1	IGDC3_HUMAN	Q	72	ENSP00000332773:R72Q	ENSP00000332773:R72Q	R	-	2	0	IGDCC3	63454682	1.000000	0.71417	0.965000	0.40720	0.169000	0.22640	1.257000	0.32932	0.319000	0.23209	-0.137000	0.14449	CGA		0.592	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		13	32	0	0	0	1	0	13	32				
RYR2	6262	broad.mit.edu	37	1	237982395	237982395	+	Silent	SNP	C	C	T	rs375456172		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:237982395C>T	ENST00000366574.2	+	101	14810	c.14493C>T	c.(14491-14493)atC>atT	p.I4831I	RYR2_ENST00000360064.6_Silent_p.I4837I|RYR2_ENST00000542537.1_Silent_p.I4815I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4831					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.I4829I(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATGAAATCGAAGACCCAG	0.413																																						ENST00000366574.2																			2	Substitution - coding silent(2)	p.I4829I(2)	large_intestine(2)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14491-14493)atC>atT		ryanodine receptor 2 (cardiac)		C		1,3871		0,1,1935	214.0	214.0	214.0		14493	-4.7	0.9	1		214	0,8270		0,0,4135	no	coding-synonymous	RYR2	NM_001035.2		0,1,6070	TT,TC,CC		0.0,0.0258,0.0082		4831/4968	237982395	1,12141	1936	4135	6071	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237982395C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14493C>T	1.37:g.237982395C>T						RYR2_ENST00000360064.6_Silent_p.I4837I|RYR2_ENST00000542537.1_Silent_p.I4815I	p.I4831I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		101	14810	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4831					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.14493C>T	CCDS55691.1																																																																																				0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		24	41	0	0	0	1	0	24	41				
IRAK1	3654	broad.mit.edu	37	X	153278063	153278063	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chrX:153278063C>T	ENST00000369980.3	-	13	2164	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	IRAK1_ENST00000393682.1_Missense_Mutation_p.R647Q|IRAK1_ENST00000393687.2_Missense_Mutation_p.R636Q|IRAK1_ENST00000369974.2_Missense_Mutation_p.R587Q|IRAK1_ENST00000429936.2_Missense_Mutation_p.R662Q|IRAK1_ENST00000477274.1_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	666					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCTTCTGTCGGGCAGGGTT	0.632																																						ENST00000369980.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25						c.(1996-1998)cGa>cAa		interleukin-1 receptor-associated kinase 1							113.0	85.0	94.0					X																	153278063		2203	4300	6503	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153278063C>T	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1997G>A	X.37:g.153278063C>T	ENSP00000358997:p.Arg666Gln					IRAK1_ENST00000393682.1_Missense_Mutation_p.R647Q|IRAK1_ENST00000429936.2_Missense_Mutation_p.R662Q|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393687.2_Missense_Mutation_p.R636Q|IRAK1_ENST00000369974.2_Missense_Mutation_p.R587Q	p.R666Q	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN			13	2164	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		666					D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.1997G>A	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.871528|4.871528	0.91587|0.91587	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000455690;ENST00000437278|ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936	T|T;T;T;T;T	0.24538|0.27256	1.85|1.68;1.68;1.68;1.68;1.68	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.43416	.|D	.|0.000570	T|T	0.41789|0.41789	0.1174|0.1174	L|L	0.34521|0.34521	1.04|1.04	0.21915|0.21915	N|N	0.999471|0.999471	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.984;0.996;0.998	T|T	0.30504|0.30504	-0.9976|-0.9976	6|10	.|0.66056	.|D	.|0.02	-12.194|-12.194	16.0863|16.0863	0.81056|0.81056	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|587;666;636	.|P51617-4;P51617;P51617-2	.|.;IRAK1_HUMAN;.	N|Q	116;230|666;587;647;636;662	ENSP00000411809:D116N|ENSP00000358997:R666Q;ENSP00000358991:R587Q;ENSP00000377287:R647Q;ENSP00000377291:R636Q;ENSP00000392662:R662Q	.|ENSP00000358991:R587Q	D|R	-|-	1|2	0|0	IRAK1|IRAK1	152931257|152931257	0.993000|0.993000	0.37304|0.37304	0.801000|0.801000	0.32222|0.32222	0.966000|0.966000	0.64601|0.64601	3.238000|3.238000	0.51352|0.51352	2.516000|2.516000	0.84829|0.84829	0.594000|0.594000	0.82650|0.82650	GAC|CGA		0.632	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			31	30	0	0	0	1	0	31	30				
KLK6	5653	broad.mit.edu	37	19	51462556	51462556	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:51462556G>A	ENST00000376851.3	-	6	1038	c.599C>T	c.(598-600)cCg>cTg	p.P200L	CTB-147C22.8_ENST00000594939.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.P200L|KLK6_ENST00000594641.1_Missense_Mutation_p.P200L|KLK6_ENST00000456750.2_Missense_Mutation_p.P93L|KLK6_ENST00000391808.1_Missense_Mutation_p.P93L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Missense_Mutation_p.R72C	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	200	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.P200L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ACATACCAGCGGACCCCCAGA	0.527																																						ENST00000376851.3																			1	Substitution - Missense(1)	p.P200L(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(598-600)cCg>cTg		kallikrein-related peptidase 6							130.0	120.0	124.0					19																	51462556		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51462556G>A	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.599C>T	19.37:g.51462556G>A	ENSP00000366047:p.Pro200Leu					KLK6_ENST00000456750.2_Missense_Mutation_p.P93L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.P200L|KLK6_ENST00000391808.1_Missense_Mutation_p.P93L|KLK6_ENST00000594641.1_Missense_Mutation_p.P200L|KLK6_ENST00000376853.4_Missense_Mutation_p.R72C	p.P200L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	6	1038	-		all_neural(266;0.026)	200			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.599C>T	CCDS12811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	14.33|14.33	2.503903|2.503903	0.44558|0.44558	.|.	.|.	ENSG00000167755|ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750|ENST00000376853	D;D;D;D|D	0.98684|0.83506	-5.07;-5.07;-5.07;-5.07|-1.73	3.89|3.89	3.89|3.89	0.44902|0.44902	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	.|.	.|.	.|.	.|.	D|D	0.91334|0.91334	0.7267|0.7267	H|H	0.99498|0.99498	4.595|4.595	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.50710	1.0;1.0|0.938	D;D|P	0.97110|0.45099	0.996;1.0|0.469	D|D	0.94608|0.94608	0.7802|0.7802	9|9	0.87932|0.87932	D|D	0|0	.|.	13.7773|13.7773	0.63062|0.63062	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200;93|72	Q92876;Q92876-2|E7ETY0	KLK6_HUMAN;.|.	L|C	200;200;93;93|72	ENSP00000309148:P200L;ENSP00000366047:P200L;ENSP00000375684:P93L;ENSP00000409241:P93L|ENSP00000366049:R72C	ENSP00000309148:P200L|ENSP00000366049:R72C	P|R	-|-	2|1	0|0	KLK6|KLK6	56154368|56154368	1.000000|1.000000	0.71417|0.71417	0.341000|0.341000	0.25589|0.25589	0.018000|0.018000	0.09664|0.09664	8.539000|8.539000	0.90637|0.90637	2.156000|2.156000	0.67533|0.67533	0.645000|0.645000	0.84053|0.84053	CCG|CGC		0.527	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		18	37	0	0	0	1	0	18	37				
APOB	338	broad.mit.edu	37	2	21252827	21252827	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr2:21252827C>T	ENST00000233242.1	-	11	1540	c.1413G>A	c.(1411-1413)atG>atA	p.M471I	APOB_ENST00000399256.4_Missense_Mutation_p.M471I	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	471	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				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)					GAATCTGTTCCATCAGGTAAT	0.428																																						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.(1411-1413)atG>atA		apolipoprotein B	Atorvastatin(DB01076)						172.0	172.0	172.0					2																	21252827		2203	4300	6503	SO:0001583	missense	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.chr2:21252827C>T	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.1413G>A	2.37:g.21252827C>T	ENSP00000233242:p.Met471Ile					APOB_ENST00000399256.4_Missense_Mutation_p.M471I	p.M471I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			11	1540	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		471			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.1413G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	2.903	-0.227129	0.06022	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.32023	1.47;1.47	4.86	2.95	0.34219	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	1.755510	0.03211	N	0.176191	T	0.25938	0.0632	L	0.40543	1.245	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.18461	-1.0336	10	0.20046	T	0.44	.	5.1972	0.15245	0.0:0.4784:0.3036:0.218	.	471	P04114	APOB_HUMAN	I	471	ENSP00000233242:M471I;ENSP00000382200:M471I	ENSP00000233242:M471I	M	-	3	0	APOB	21106332	0.001000	0.12720	0.294000	0.24946	0.114000	0.19823	-0.128000	0.10531	1.198000	0.43158	0.655000	0.94253	ATG		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			11	131	0	0	0	1	0	11	131				
LRRC61	65999	broad.mit.edu	37	7	150034141	150034141	+	Missense_Mutation	SNP	C	C	T	rs200488388		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:150034141C>T	ENST00000359623.4	+	3	779	c.191C>T	c.(190-192)gCg>gTg	p.A64V	LRRC61_ENST00000323078.7_Missense_Mutation_p.A64V|LRRC61_ENST00000493307.1_Missense_Mutation_p.A64V	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	64										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCAGGCAACGCGCTCACCCAC	0.652																																						ENST00000359623.4																			0				endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(190-192)gCg>gTg		leucine rich repeat containing 61		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	62.0	53.0	56.0		191,191	1.0	0.1	7		56	0,8598		0,0,4299	yes	missense,missense	LRRC61	NM_001142928.1,NM_023942.2	64,64	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	64/260,64/260	150034141	1,13003	2203	4299	6502	SO:0001583	missense	65999							g.chr7:150034141C>T	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.191C>T	7.37:g.150034141C>T	ENSP00000352642:p.Ala64Val					LRRC61_ENST00000323078.7_Missense_Mutation_p.A64V|LRRC61_ENST00000493307.1_Missense_Mutation_p.A64V	p.A64V	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	779	+			64					B3KUW0|D3DWY8	Missense_Mutation	SNP	ENST00000359623.4	37	c.191C>T	CCDS5901.1	.	.	.	.	.	.	.	.	.	.	C	8.293	0.818083	0.16607	2.27E-4	0.0	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	T;T;T	0.09630	2.96;2.96;2.96	4.97	1.05	0.20165	.	0.357724	0.28549	N	0.014943	T	0.08935	0.0221	M	0.64260	1.97	0.09310	N	1	B	0.20368	0.044	B	0.12156	0.007	T	0.34229	-0.9837	10	0.19147	T	0.46	-5.4948	3.5676	0.07905	0.2937:0.4507:0.0:0.2555	.	64	Q9BV99	LRC61_HUMAN	V	64	ENSP00000339047:A64V;ENSP00000352642:A64V;ENSP00000420560:A64V	ENSP00000339047:A64V	A	+	2	0	LRRC61	149665074	0.002000	0.14202	0.102000	0.21198	0.740000	0.42216	-0.017000	0.12590	0.158000	0.19367	-1.130000	0.01982	GCG		0.652	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		4	114	0	0	0	1	0	4	114				
USP2	9099	broad.mit.edu	37	11	119227592	119227592	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:119227592C>T	ENST00000260187.2	-	13	2065	c.1771G>A	c.(1771-1773)Gcc>Acc	p.A591T	USP2_ENST00000455332.2_Missense_Mutation_p.A348T|USP2_ENST00000525735.1_Missense_Mutation_p.A382T	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	591	USP.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGCAGGTAGGCGTCGCTGGTG	0.692											OREG0021404	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260187.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(1771-1773)Gcc>Acc		ubiquitin specific peptidase 2							35.0	28.0	30.0					11																	119227592		2182	4271	6453	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119227592C>T	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.1771G>A	11.37:g.119227592C>T	ENSP00000260187:p.Ala591Thr		OREG0021404	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1494	USP2_ENST00000525735.1_Missense_Mutation_p.A382T|USP2_ENST00000455332.2_Missense_Mutation_p.A348T	p.A591T	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	13	2065	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	591					B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.1771G>A	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	36	5.792882	0.96952	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.07216	3.21;3.21;3.21	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	H	0.96015	3.755	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.917;0.998;0.994	T	0.61955	-0.6956	10	0.87932	D	0	-7.3935	18.7167	0.91678	0.0:1.0:0.0:0.0	.	348;591;382	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	T	348;591;338;382	ENSP00000407842:A348T;ENSP00000260187:A591T;ENSP00000436952:A382T	ENSP00000260187:A591T	A	-	1	0	USP2	118732802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.539000	0.67199	2.664000	0.90586	0.650000	0.86243	GCC		0.692	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	NM_171997		4	4	0	0	0	1	0	4	4				
BNIP1	662	broad.mit.edu	37	5	172590800	172590800	+	Missense_Mutation	SNP	G	G	A	rs148150409	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr5:172590800G>A	ENST00000351486.5	+	6	594	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	BNIP1_ENST00000231668.9_Missense_Mutation_p.R231Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R197Q|BNIP1_ENST00000393770.4_Missense_Mutation_p.R154Q	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	188					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCTGGGCCGGAAGCTTATC	0.488																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(691-693)cGg>cAg		BCL2/adenovirus E1B 19kDa interacting protein 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	96.0	92.0	94.0		563,461,692,590	5.8	1.0	5	dbSNP_134	94	0,8600		0,0,4300	yes	missense,missense,missense,missense	BNIP1	NM_001205.2,NM_013978.2,NM_013979.2,NM_013980.2	43,43,43,43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	188/229,154/195,231/272,197/238	172590800	3,13003	2203	4300	6503	SO:0001583	missense	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172590800G>A	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.563G>A	5.37:g.172590800G>A	ENSP00000239215:p.Arg188Gln					BNIP1_ENST00000393770.4_Missense_Mutation_p.R154Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R197Q|BNIP1_ENST00000351486.5_Missense_Mutation_p.R188Q	p.R231Q	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	796	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	188					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.692G>A	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515560	0.85389	6.81E-4	0.0	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.49432	0.78;0.81;0.86;0.78	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.997;0.999	D;P;P;D	0.67725	0.923;0.886;0.772;0.953	T	0.66324	-0.5952	10	0.38643	T	0.18	.	19.9468	0.97185	0.0:0.0:1.0:0.0	.	154;197;188;231	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	Q	231;188;197;154	ENSP00000231668:R231Q;ENSP00000239215:R188Q;ENSP00000239214:R197Q;ENSP00000377365:R154Q	ENSP00000231668:R231Q	R	+	2	0	BNIP1	172523406	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	9.476000	0.97823	2.714000	0.92807	0.650000	0.86243	CGG		0.488	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		3	86	0	0	0	1	0	3	86				
DLGAP3	58512	broad.mit.edu	37	1	35370062	35370062	+	Missense_Mutation	SNP	G	G	A	rs147968723		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:35370062G>A	ENST00000373347.1	-	3	1191	c.923C>T	c.(922-924)tCg>tTg	p.S308L	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Missense_Mutation_p.S308L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	308					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCGGCCTTCCGACCCGCCCGA	0.667																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(922-924)tCg>tTg		discs, large (Drosophila) homolog-associated protein 3		G	LEU/SER	0,4406		0,0,2203	44.0	47.0	46.0		923	4.5	1.0	1	dbSNP_134	46	1,8599		0,1,4299	no	missense	DLGAP3	NM_001080418.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	308/980	35370062	1,13005	2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370062G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.923C>T	1.37:g.35370062G>A	ENSP00000362444:p.Ser308Leu					DLGAP3_ENST00000235180.4_Missense_Mutation_p.S308L	p.S308L			O95886	DLGP3_HUMAN			3	1191	-		Myeloproliferative disorder(586;0.0393)	308					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.923C>T	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936986	0.34189	0.0	1.16E-4	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.26518	1.73;1.73	4.49	4.49	0.54785	.	0.758341	0.11813	N	0.526959	T	0.20414	0.0491	L	0.29908	0.895	0.23304	N	0.997947	B	0.26318	0.146	B	0.17098	0.017	T	0.09818	-1.0657	10	0.66056	D	0.02	-1.0832	12.2235	0.54447	0.0:0.3173:0.6827:0.0	.	308	O95886	DLGP3_HUMAN	L	308	ENSP00000362444:S308L;ENSP00000235180:S308L	ENSP00000235180:S308L	S	-	2	0	DLGAP3	35142649	0.998000	0.40836	0.970000	0.41538	0.964000	0.63967	3.666000	0.54540	2.492000	0.84095	0.655000	0.94253	TCG		0.667	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		25	67	0	0	0	1	0	25	67				
MRPL54	116541	broad.mit.edu	37	19	3762707	3762707	+	Silent	SNP	C	C	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:3762707C>G	ENST00000330133.4	+	1	46	c.9C>G	c.(7-9)acC>acG	p.T3T	APBA3_ENST00000316757.3_5'Flank	NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	3						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGCGACCAAACGCCTTT	0.632																																						ENST00000330133.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						c.(7-9)acC>acG		mitochondrial ribosomal protein L54							64.0	73.0	70.0					19																	3762707		2203	4300	6503	SO:0001819	synonymous_variant	116541					mitochondrion|ribosome		g.chr19:3762707C>G		CCDS12111.1	19p13.3	2012-11-14			ENSG00000183617	ENSG00000183617		"""Mitochondrial ribosomal proteins / large subunits"""	16685	protein-coding gene	gene with protein product		611858				11551941	Standard	NM_172251		Approved		uc002lyq.4	Q6P161	OTTHUMG00000180873	ENST00000330133.4:c.9C>G	19.37:g.3762707C>G							p.T3T	NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	1	46	+		Hepatocellular(1079;0.137)	3						Silent	SNP	ENST00000330133.4	37	c.9C>G	CCDS12111.1																																																																																				0.632	MRPL54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453443.1	NM_172251		37	105	0	0	0	1	0	37	105				
ALDH1L1	10840	broad.mit.edu	37	3	125824675	125824675	+	Silent	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:125824675G>A	ENST00000393434.2	-	22	2896	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V	ALDH1L1_ENST00000452905.2_Silent_p.V748V|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000273450.3_Silent_p.V859V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Silent_p.V849V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	849	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCTTGTCACTGACATACAGGG	0.552																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2545-2547)gtC>gtT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						187.0	175.0	179.0					3																	125824675		2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125824675G>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2547C>T	3.37:g.125824675G>A						ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Silent_p.V849V|ALDH1L1_ENST00000452905.2_Silent_p.V748V|ALDH1L1_ENST00000273450.3_Silent_p.V859V	p.V849V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	22	2896	-			849			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.2547C>T	CCDS3034.1																																																																																				0.552	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		5	177	0	0	0	1	0	5	177				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			3	133	0	0	0	1	0	3	133				
SEC31B	25956	broad.mit.edu	37	10	102248628	102248628	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr10:102248628G>T	ENST00000370345.3	-	24	3372	c.3275C>A	c.(3274-3276)tCt>tAt	p.S1092Y		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1092					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTCAGTTGCAGACAGGGAGCA	0.577																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(3274-3276)tCt>tAt		SEC31 homolog B (S. cerevisiae)							96.0	93.0	94.0					10																	102248628		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102248628G>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3275C>A	10.37:g.102248628G>T	ENSP00000359370:p.Ser1092Tyr						p.S1092Y	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	24	3372	-		Colorectal(252;0.117)	1092					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.3275C>A	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558920	0.27827	.	.	ENSG00000075826	ENST00000370345	T	0.53640	0.61	4.92	3.98	0.46160	.	0.501251	0.22131	N	0.064185	T	0.58722	0.2142	M	0.71581	2.175	0.19775	N	0.999959	D;D	0.59767	0.986;0.976	P;P	0.62089	0.898;0.794	T	0.53099	-0.8486	10	0.72032	D	0.01	-5.3577	4.5124	0.11917	0.1781:0.2769:0.545:0.0	.	1091;1092	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	Y	1092	ENSP00000359370:S1092Y	ENSP00000359370:S1092Y	S	-	2	0	SEC31B	102238618	0.985000	0.35326	0.887000	0.34795	0.048000	0.14542	1.651000	0.37302	1.194000	0.43101	0.561000	0.74099	TCT		0.577	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		35	62	1	0	6.04917e-29	1	6.73399e-29	35	62				
TBC1D5	9779	broad.mit.edu	37	3	17279892	17279892	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:17279892G>A	ENST00000253692.7	-	17	3015	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	TBC1D5_ENST00000446818.2_Missense_Mutation_p.P451S|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P403S|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P451S	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	451						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ATATTCAGGGGAGCACCTTTG	0.388																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(1351-1353)Ccc>Tcc		TBC1 domain family, member 5							41.0	42.0	41.0					3																	17279892		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17279892G>A	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1351C>T	3.37:g.17279892G>A	ENSP00000253692:p.Pro451Ser					TBC1D5_ENST00000429383.4_Missense_Mutation_p.P451S|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P403S|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P451S	p.P451S	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			17	3015	-			451					A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.1351C>T	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134527	0.56828	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.47869	1.44;1.44;1.37;0.83	5.89	5.89	0.94794	.	0.099558	0.64402	D	0.000001	T	0.44286	0.1286	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.22146	0.013;0.065;0.065;0.065	B;B;B;B	0.19391	0.003;0.018;0.025;0.025	T	0.20672	-1.0268	10	0.23891	T	0.37	-16.7309	18.4274	0.90613	0.0:0.0:1.0:0.0	.	403;451;451;451	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	S	451;451;451;403	ENSP00000253692:P451S;ENSP00000398127:P451S;ENSP00000402935:P451S;ENSP00000411925:P403S	ENSP00000253692:P451S	P	-	1	0	TBC1D5	17254896	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.881000	0.87252	2.781000	0.95711	0.555000	0.69702	CCC		0.388	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		12	46	0	0	0	1	0	12	46				
TMEM132B	114795	broad.mit.edu	37	12	126138738	126138738	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr12:126138738G>A	ENST00000299308.3	+	9	2727	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	907						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTGCTCTGCGTCTTCTGTCT	0.522																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2719-2721)Gtc>Atc		transmembrane protein 132B							98.0	96.0	97.0					12																	126138738		2038	4218	6256	SO:0001583	missense	114795					integral to membrane		g.chr12:126138738G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2719G>A	12.37:g.126138738G>A	ENSP00000299308:p.Val907Ile					TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	p.V907I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2727	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		907					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2719G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720217	0.89205	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.21031	2.03;2.03	5.43	5.43	0.79202	.	0.107006	0.41294	N	0.000908	T	0.40372	0.1114	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.06991	-1.0796	10	0.45353	T	0.12	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	907	Q14DG7	T132B_HUMAN	I	907;419	ENSP00000299308:V907I;ENSP00000440436:V419I	ENSP00000299308:V907I	V	+	1	0	TMEM132B	124704691	1.000000	0.71417	0.985000	0.45067	0.895000	0.52256	7.748000	0.85085	2.543000	0.85770	0.655000	0.94253	GTC		0.522	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		26	57	0	0	0	1	0	26	57				
MOGAT3	346606	broad.mit.edu	37	7	100839218	100839218	+	3'UTR	SNP	C	C	T	rs371502014		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:100839218C>T	ENST00000223114.4	-	0	1201				MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000379423.3_Missense_Mutation_p.A278T	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3						glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CGAAAGGCCGCGGCCAGGCCT	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15813	0.0		0.0	False		,,,				2504	0.0					ENST00000379423.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(832-834)Gcg>Acg		monoacylglycerol O-acyltransferase 3		C		2,4404	4.2+/-10.8	0,2,2201	62.0	63.0	63.0			-1.2	0.0	7		63	3,8597	3.0+/-9.4	0,3,4297	no	utr-3	MOGAT3	NM_178176.2		0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384			100839218	5,13001	2203	4300	6503	SO:0001624	3_prime_UTR_variant	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100839218C>T	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.*9G>A	7.37:g.100839218C>T						MOGAT3_ENST00000223114.4_3'UTR|MOGAT3_ENST00000440203.2_3'UTR	p.A278T			Q86VF5	MOGT3_HUMAN			6	892	-	Lung NSC(181;0.168)|all_lung(186;0.215)		0					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.832G>A	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	C	9.284	1.048981	0.19827	4.54E-4	3.49E-4	ENSG00000106384	ENST00000379423	T	0.31247	1.5	2.56	-1.19	0.09585	.	.	.	.	.	T	0.17066	0.0410	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31558	-0.9939	8	0.72032	D	0.01	.	0.3802	0.00394	0.4095:0.2306:0.1408:0.2192	.	278	Q86VF5-2	.	T	278	ENSP00000368734:A278T	ENSP00000368734:A278T	A	-	1	0	MOGAT3	100625938	0.009000	0.17119	0.000000	0.03702	0.003000	0.03518	0.920000	0.28705	-0.230000	0.09840	-1.222000	0.01597	GCG		0.627	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		32	83	0	0	0	1	0	32	83				
ACTL7B	10880	broad.mit.edu	37	9	111617150	111617150	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:111617150C>T	ENST00000374667.3	-	1	2089	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	354						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.R354H(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCTCTGGAAGCGCTCGGGGAA	0.677																																						ENST00000374667.3																			2	Substitution - Missense(2)	p.R354H(2)	large_intestine(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1060-1062)cGc>cAc		actin-like 7B							30.0	36.0	34.0					9																	111617150		2202	4299	6501	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617150C>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1061G>A	9.37:g.111617150C>T	ENSP00000363799:p.Arg354His						p.R354H	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	2089	-			354					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.1061G>A	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740686	0.89573	.	.	ENSG00000148156	ENST00000374667	D	0.99353	-5.77	5.24	5.24	0.73138	.	0.000000	0.39834	N	0.001248	D	0.99597	0.9854	H	0.95745	3.715	0.51482	D	0.999925	D	0.89917	1.0	D	0.91635	0.999	D	0.97842	1.0269	10	0.87932	D	0	.	16.3291	0.83001	0.0:1.0:0.0:0.0	.	354	Q9Y614	ACL7B_HUMAN	H	354	ENSP00000363799:R354H	ENSP00000363799:R354H	R	-	2	0	ACTL7B	110656971	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.961000	0.63681	2.449000	0.82847	0.561000	0.74099	CGC		0.677	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		16	40	0	0	0	1	0	16	40				
UPP1	7378	broad.mit.edu	37	7	48141449	48141449	+	Missense_Mutation	SNP	G	G	A	rs201808602		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:48141449G>A	ENST00000331803.4	+	6	814	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	UPP1_ENST00000395564.4_Missense_Mutation_p.R64Q|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.R64Q|UPP1_ENST00000482015.1_3'UTR			Q16831	UPP1_HUMAN	uridine phosphorylase 1	64					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	AGCCCCTCCCGGATGAAAGCC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		16600	0.0		0.001	False		,,,				2504	0.0					ENST00000331803.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(190-192)cGg>cAg		uridine phosphorylase 1							142.0	124.0	130.0					7																	48141449		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48141449G>A	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.191G>A	7.37:g.48141449G>A	ENSP00000330032:p.Arg64Gln					UPP1_ENST00000395564.4_Missense_Mutation_p.R64Q|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000341253.4_Missense_Mutation_p.R64Q|UPP1_ENST00000429491.2_Intron	p.R64Q			Q16831	UPP1_HUMAN			6	814	+			64					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.191G>A	CCDS5507.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.629973	0.96671	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	5.62	5.62	0.85841	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	D	0.95856	0.8651	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96404	0.9299	10	0.87932	D	0	-26.4038	18.6492	0.91423	0.0:0.0:1.0:0.0	.	64;64	B4DND0;Q16831	.;UPP1_HUMAN	Q	64	ENSP00000405209:R64Q;ENSP00000330032:R64Q;ENSP00000342878:R64Q;ENSP00000378931:R64Q;ENSP00000390118:R64Q	ENSP00000330032:R64Q	R	+	2	0	UPP1	48107974	1.000000	0.71417	0.982000	0.44146	0.937000	0.57800	9.520000	0.98027	2.645000	0.89757	0.655000	0.94253	CGG		0.567	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		25	73	0	0	0	1	0	25	73				
RAG1	5896	broad.mit.edu	37	11	36595849	36595849	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:36595849G>A	ENST00000299440.5	+	2	1107	c.995G>A	c.(994-996)cGa>cAa	p.R332Q		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	332					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CCCTCTTGCCGATATCCATGC	0.498									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(994-996)cGa>cAa		recombination activating gene 1							76.0	70.0	72.0					11																	36595849		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595849G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.995G>A	11.37:g.36595849G>A	ENSP00000299440:p.Arg332Gln						p.R332Q	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	1107	+	all_lung(20;0.226)	all_hematologic(20;0.107)	332					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.995G>A	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	9.981	1.228134	0.22542	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.78707	-1.2;-1.2	5.39	-4.16	0.03869	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.707573	0.13609	N	0.375233	T	0.69251	0.3090	L	0.55017	1.72	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.57112	-0.7867	10	0.48119	T	0.1	.	12.9233	0.58245	0.5646:0.0:0.4354:0.0	.	332	P15918	RAG1_HUMAN	Q	332	ENSP00000434610:R332Q;ENSP00000299440:R332Q	ENSP00000299440:R332Q	R	+	2	0	RAG1	36552425	0.000000	0.05858	0.005000	0.12908	0.984000	0.73092	-0.126000	0.10563	-0.761000	0.04670	-0.312000	0.09012	CGA		0.498	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		25	43	0	0	0	1	0	25	43				
LAMC2	3918	broad.mit.edu	37	1	183207488	183207488	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:183207488C>T	ENST00000264144.4	+	19	2866	c.2801C>T	c.(2800-2802)gCa>gTa	p.A934V	LAMC2_ENST00000493293.1_Missense_Mutation_p.A934V	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	934	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AAAAGCAGAGCACAAGAAGCA	0.418																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2800-2802)gCa>gTa		laminin, gamma 2							149.0	138.0	141.0					1																	183207488		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183207488C>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2801C>T	1.37:g.183207488C>T	ENSP00000264144:p.Ala934Val					LAMC2_ENST00000493293.1_Missense_Mutation_p.A934V	p.A934V	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			19	2866	+			934			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.2801C>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960847	0.92791	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.25579	1.9;1.79	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.54581	0.1867	M	0.83953	2.67	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.54728	-0.8250	10	0.37606	T	0.19	.	16.847	0.85983	0.0:1.0:0.0:0.0	.	934;934;934	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	V	934	ENSP00000432063:A934V;ENSP00000264144:A934V	ENSP00000264144:A934V	A	+	2	0	LAMC2	181474111	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.168000	0.64978	2.558000	0.86282	0.655000	0.94253	GCA		0.418	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		37	109	0	0	0	1	0	37	109				
MCHR2	84539	broad.mit.edu	37	6	100390896	100390896	+	Silent	SNP	C	C	T	rs140465249	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr6:100390896C>T	ENST00000281806.2	-	4	830	c.516G>A	c.(514-516)tcG>tcA	p.S172S	MCHR2_ENST00000369212.2_Silent_p.S172S	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGATGACCTTCGAGTAGACCC	0.448																																						ENST00000281806.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39						c.(514-516)tcG>tcA		melanin-concentrating hormone receptor 2							147.0	138.0	141.0					6																	100390896		2203	4300	6503	SO:0001819	synonymous_variant	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100390896C>T	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.516G>A	6.37:g.100390896C>T						MCHR2_ENST00000369212.1_Silent_p.S172S|MCHR2_ENST00000445970.1_Silent_p.S172S	p.S172S	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	4	830	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	172					B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Silent	SNP	ENST00000281806.2	37	c.516G>A	CCDS5044.1																																																																																				0.448	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		34	95	0	0	0	1	0	34	95				
MYPN	84665	broad.mit.edu	37	10	69881296	69881296	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr10:69881296G>T	ENST00000358913.5	+	2	589	c.101G>T	c.(100-102)cGa>cTa	p.R34L	MYPN_ENST00000373675.3_Missense_Mutation_p.R34L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.R34L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	34	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAGAGGAGTCGAGCGGAGCCC	0.522																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(100-102)cGa>cTa		myopalladin							60.0	57.0	58.0					10																	69881296		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69881296G>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.101G>T	10.37:g.69881296G>T	ENSP00000351790:p.Arg34Leu					MYPN_ENST00000540630.1_Missense_Mutation_p.R34L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.R34L	p.R34L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			2	589	+			34			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.101G>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416646	0.42918	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.62105	0.43;0.41;0.05	6.03	5.11	0.69529	.	0.131761	0.51477	N	0.000088	T	0.54870	0.1885	L	0.45581	1.43	0.48452	D	0.999655	B;B	0.10296	0.003;0.002	B;B	0.15052	0.012;0.005	T	0.49799	-0.8901	9	.	.	.	.	14.1802	0.65568	0.0:0.0:0.7278:0.2722	.	34;34	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	L	34	ENSP00000351790:R34L;ENSP00000441668:R34L;ENSP00000362779:R34L	.	R	+	2	0	MYPN	69551302	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.330000	0.52068	1.506000	0.48736	0.655000	0.94253	CGA		0.522	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		3	77	1	0	0.115264	1	0.119308	3	77				
TSPAN4	7106	broad.mit.edu	37	11	864455	864455	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:864455C>G	ENST00000397404.1	+	5	533	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(274-276)Ctg>Gtg		tetraspanin 4							98.0	95.0	96.0					11																	864455		2203	4299	6502	SO:0001583	missense	0				protein complex assembly	integral to plasma membrane		g.chr11:864455C>G	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.274C>G	11.37:g.864455C>G	ENSP00000380553:p.Leu92Val					TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V	p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	533	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	c.274C>G	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	7.339	0.620549	0.14193	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531;ENST00000527644	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	3.04	1.98	0.26296	.	0.388801	0.23310	N	0.049564	T	0.54431	0.1858	N	0.04508	-0.205	0.32506	N	0.538191	B	0.12013	0.005	B	0.15870	0.014	T	0.53493	-0.8431	10	0.17369	T	0.5	.	6.829	0.23898	0.4405:0.5595:0.0:0.0	.	92	O14817	TSN4_HUMAN	V	92;92;28;92;28;92;92;28;92;28;92;111;92	ENSP00000380552:L92V;ENSP00000380558:L92V;ENSP00000380551:L28V;ENSP00000380555:L92V;ENSP00000433980:L28V;ENSP00000380554:L92V;ENSP00000386513:L92V;ENSP00000431943:L28V;ENSP00000380553:L92V;ENSP00000434818:L28V;ENSP00000324304:L92V;ENSP00000386899:L111V;ENSP00000436260:L92V	ENSP00000324304:L92V	L	+	1	2	TSPAN4	854455	0.162000	0.22906	1.000000	0.80357	0.819000	0.46315	0.131000	0.15870	1.557000	0.49525	0.313000	0.20887	CTG		0.672	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			4	180	0	0	0	1	0	4	180				
CIART	148523	broad.mit.edu	37	1	150259209	150259209	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:150259209G>A	ENST00000290363.5	+	5	1450	c.1001G>A	c.(1000-1002)cGt>cAt	p.R334H	C1orf51_ENST00000369094.1_Missense_Mutation_p.R246H|C1orf51_ENST00000369095.1_Missense_Mutation_p.R334H	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		334					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGGTCCTCGTTGCTACAGT	0.552																																						ENST00000290363.5																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(1000-1002)cGt>cAt		chromosome 1 open reading frame 51							157.0	137.0	144.0					1																	150259209		2203	4300	6503	SO:0001583	missense	148523							g.chr1:150259209G>A																												ENST00000290363.5:c.1001G>A	1.37:g.150259209G>A	ENSP00000290363:p.Arg334His					C1orf51_ENST00000369094.1_Missense_Mutation_p.R246H|C1orf51_ENST00000369095.1_Missense_Mutation_p.R334H	p.R334H	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	1450	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		334					B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	c.1001G>A	CCDS949.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367987	0.24771	.	.	ENSG00000159208	ENST00000369095;ENST00000369094;ENST00000290363	.	.	.	5.36	1.18	0.20946	.	0.530420	0.19472	N	0.113436	T	0.04952	0.0133	N	0.11560	0.145	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.42241	-0.9463	8	.	.	.	-16.571	5.0626	0.14564	0.2733:0.1481:0.5785:0.0	.	334	Q8N365	CA051_HUMAN	H	334;246;334	.	.	R	+	2	0	C1orf51	148525833	0.000000	0.05858	0.024000	0.17045	0.893000	0.52053	0.316000	0.19469	0.061000	0.16311	0.561000	0.74099	CGT		0.552	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			47	122	0	0	0	1	0	47	122				
TMEM102	284114	broad.mit.edu	37	17	7340279	7340279	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:7340279G>T	ENST00000323206.1	+	3	1254	c.981G>T	c.(979-981)tgG>tgT	p.W327C	FGF11_ENST00000293829.4_5'Flank|RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.W327C|RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000572907.1_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_5'Flank	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	327					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TGGCGGGCTGGCCCGAGGGGG	0.726																																						ENST00000323206.1																			0				kidney(1)|lung(3)|skin(1)	5						c.(979-981)tgG>tgT		transmembrane protein 102							7.0	9.0	8.0					17																	7340279		2039	4027	6066	SO:0001583	missense	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7340279G>T	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.981G>T	17.37:g.7340279G>T	ENSP00000315387:p.Trp327Cys					TMEM102_ENST00000396568.1_Missense_Mutation_p.W327C|RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA	p.W327C	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN			3	1254	+		Prostate(122;0.173)	327					D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	c.981G>T	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937682	0.73557	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.22743	1.94;1.94	5.18	5.18	0.71444	.	0.000000	0.47093	D	0.000249	T	0.41789	0.1174	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.24584	-1.0156	10	0.87932	D	0	-8.2316	14.1772	0.65549	0.0:0.0:1.0:0.0	.	327	Q8N9M5	TM102_HUMAN	C	327	ENSP00000315387:W327C;ENSP00000379815:W327C	ENSP00000315387:W327C	W	+	3	0	TMEM102	7281003	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.027000	0.70881	2.412000	0.81896	0.462000	0.41574	TGG		0.726	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		3	18	1	0	0.000602214	1	0.000634476	3	18				
ATP8B2	57198	broad.mit.edu	37	1	154303605	154303605	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:154303605G>T	ENST00000368489.3	+	5	385	c.385G>T	c.(385-387)Gat>Tat	p.D129Y	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.D96Y|ATP8B2_ENST00000341822.2_Missense_Mutation_p.D115Y	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	115					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCTGTTAAAGATGCCACTGA	0.488																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(385-387)Gat>Tat		ATPase, aminophospholipid transporter, class I, type 8B, member 2							161.0	132.0	141.0					1																	154303605		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154303605G>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.385G>T	1.37:g.154303605G>T	ENSP00000357475:p.Asp129Tyr					ATP8B2_ENST00000341822.2_Missense_Mutation_p.D115Y|ATP8B2_ENST00000368487.3_Missense_Mutation_p.D96Y|ATP8B2_ENST00000426445.1_3'UTR	p.D129Y	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	385	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		115					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.385G>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441649	0.83993	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;D;D	0.84589	-1.87;-1.87;-1.87	4.66	4.66	0.58398	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	H	0.98542	4.26	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97000	0.9728	10	0.87932	D	0	.	17.0785	0.86592	0.0:0.0:1.0:0.0	.	115;129;96	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	Y	96;129;115	ENSP00000357472:D96Y;ENSP00000357475:D129Y;ENSP00000340448:D115Y	ENSP00000340448:D115Y	D	+	1	0	ATP8B2	152570229	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.573000	0.86826	0.561000	0.74099	GAT		0.488	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		21	40	1	0	3.5997e-14	1	3.933e-14	21	40				
GAR1	54433	broad.mit.edu	37	4	110737454	110737454	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr4:110737454G>A	ENST00000226796.6	+	2	398	c.134G>A	c.(133-135)gGc>gAc	p.G45D	RP11-602N24.3_ENST00000609440.1_lincRNA|GAR1_ENST00000394631.3_Missense_Mutation_p.G45D	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	45	RGG-box 1.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						agaggcggcggcaggggaggA	0.607																																						ENST00000226796.6																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						c.(133-135)gGc>gAc		GAR1 ribonucleoprotein							31.0	39.0	37.0					4																	110737454		2202	4300	6502	SO:0001583	missense	54433				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	g.chr4:110737454G>A	AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"""nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)"", ""GAR1 ribonucleoprotein homolog (yeast)"""	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.134G>A	4.37:g.110737454G>A	ENSP00000226796:p.Gly45Asp					GAR1_ENST00000394631.3_Missense_Mutation_p.G45D	p.G45D	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN			2	398	+			45			RGG-box 1.		Q5MJQ2	Missense_Mutation	SNP	ENST00000226796.6	37	c.134G>A	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829216	0.71258	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	3.99	3.99	0.46301	.	0.058323	0.64402	D	0.000002	T	0.53706	0.1813	N	0.08118	0	0.47547	D	0.999456	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.65623	-0.6123	9	0.66056	D	0.02	.	16.2214	0.82262	0.0:0.0:1.0:0.0	.	45;45	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	D	45	.	ENSP00000226796:G45D	G	+	2	0	GAR1	110956903	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.243000	0.72384	2.209000	0.71365	0.655000	0.94253	GGC		0.607	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2			4	57	0	0	0	1	0	4	57				
ENTPD6	955	broad.mit.edu	37	20	25205809	25205809	+	Intron	SNP	C	C	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr20:25205809C>G	ENST00000376652.4	+	14	1406				ENTPD6_ENST00000360031.2_Intron|ENTPD6_ENST00000433259.2_Missense_Mutation_p.L385V|ENTPD6_ENST00000354989.5_Intron|ENTPD6_ENST00000485936.1_Intron			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)						response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						TGGGAGTCACCTGGAGCGTGA	0.642																																						ENST00000433259.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						c.(1153-1155)Ctg>Gtg		ectonucleoside triphosphate diphosphohydrolase 6 (putative)							53.0	43.0	46.0					20																	25205809		2199	4300	6499	SO:0001627	intron_variant	0					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	g.chr20:25205809C>G	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1244-32C>G	20.37:g.25205809C>G						ENTPD6_ENST00000376652.4_Intron|ENTPD6_ENST00000354989.5_Intron|ENTPD6_ENST00000360031.2_Intron|ENTPD6_ENST00000485936.1_Intron	p.L385V			O75354	ENTP6_HUMAN			13	1279	+			419					A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	c.1153C>G	CCDS13170.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.19|11.19	1.566049|1.566049	0.27915|0.27915	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000376641;ENST00000433259|ENST00000376666	T|.	0.17054|.	2.3|.	4.38|4.38	-1.33|-1.33	0.09172|0.09172	.|.	.|.	.|.	.|.	.|.	T|T	0.23171|0.23171	0.0560|0.0560	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P;P;P|.	0.51351|.	0.944;0.756;0.754|.	P;B;B|.	0.46659|.	0.523;0.283;0.184|.	T|T	0.28459|0.28459	-1.0043|-1.0043	8|4	0.30078|.	T|.	0.28|.	.|.	4.5949|4.5949	0.12325|0.12325	0.0:0.4717:0.1542:0.3741|0.0:0.4717:0.1542:0.3741	.|.	401;419;385|.	B4DDM7;B4DNK6;Q5QPI9|.	.;.;.|.	V|R	315;385|242	ENSP00000401895:L385V|.	ENSP00000365828:L315V|.	L|P	+|+	1|2	2|0	ENTPD6|ENTPD6	25153809|25153809	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	-0.165000|-0.165000	0.09968|0.09968	-0.294000|-0.294000	0.08973|0.08973	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.642	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2			5	7	0	0	0	1	0	5	7				
COASY	80347	broad.mit.edu	37	17	40717505	40717505	+	Silent	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:40717505G>T	ENST00000393818.2	+	7	1860	c.1404G>T	c.(1402-1404)gtG>gtT	p.V468V	MLX_ENST00000435881.2_5'Flank|COASY_ENST00000420359.1_Silent_p.V468V|COASY_ENST00000590958.1_Silent_p.V497V|MLX_ENST00000346833.4_5'Flank|COASY_ENST00000421097.2_Silent_p.V468V|COASY_ENST00000449624.1_Silent_p.V173V|MLX_ENST00000246912.4_5'Flank	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	468	DPCK.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GTGTGTGTGTGATTGATGCCG	0.612																																						ENST00000393818.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21						c.(1402-1404)gtG>gtT		CoA synthase							151.0	123.0	133.0					17																	40717505		2203	4300	6503	SO:0001819	synonymous_variant	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40717505G>T	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1404G>T	17.37:g.40717505G>T						COASY_ENST00000421097.2_Silent_p.V468V|COASY_ENST00000420359.1_Silent_p.V468V|COASY_ENST00000590958.1_Silent_p.V497V|COASY_ENST00000449624.1_Silent_p.V173V	p.V468V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	7	1860	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	468			DPCK.		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	ENST00000393818.2	37	c.1404G>T	CCDS11429.1																																																																																				0.612	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		17	49	1	0	1.33834e-09	1	1.43567e-09	17	49				
ABCA13	154664	broad.mit.edu	37	7	48352729	48352729	+	Silent	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:48352729C>T	ENST00000435803.1	+	25	9606	c.9582C>T	c.(9580-9582)agC>agT	p.S3194S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3194					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S3139S(1)|p.S3194S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCAGCCTCAGCGCCTTGCTTG	0.433																																						ENST00000435803.1																			2	Substitution - coding silent(2)	p.S3139S(1)|p.S3194S(1)	large_intestine(2)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(9580-9582)agC>agT		ATP-binding cassette, sub-family A (ABC1), member 13							66.0	65.0	65.0					7																	48352729		1881	4107	5988	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48352729C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9582C>T	7.37:g.48352729C>T							p.S3194S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			25	9606	+			3194					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.9582C>T	CCDS47584.1																																																																																				0.433	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		10	18	0	0	0	1	0	10	18				
SBF1	6305	broad.mit.edu	37	22	50893710	50893710	+	Silent	SNP	G	G	A	rs377500587		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr22:50893710G>A	ENST00000390679.3	-	32	4603	c.4419C>T	c.(4417-4419)gcC>gcT	p.A1473A	SBF1_ENST00000348911.6_Silent_p.A1474A|SBF1_ENST00000380817.3_Silent_p.A1499A|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1473	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCTGCCCGGCCAGGGTGT	0.667																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(4495-4497)gcC>gcT		SET binding factor 1		G		1,4203		0,1,2101	28.0	37.0	34.0		4497	-7.7	0.8	22		34	0,8448		0,0,4224	no	coding-synonymous	SBF1	NM_002972.2		0,1,6325	AA,AG,GG		0.0,0.0238,0.0079		1499/1894	50893710	1,12651	2102	4224	6326	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50893710G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.4419C>T	22.37:g.50893710G>A						SBF1_ENST00000390679.3_Silent_p.A1473A|SBF1_ENST00000348911.6_Silent_p.A1474A	p.A1499A	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	33	4680	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1473			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.4497C>T		.	.	.	.	.	.	.	.	.	.	G	10.02	1.236524	0.22711	2.38E-4	0.0	ENSG00000100241	ENST00000418590	.	.	.	3.84	-7.68	0.01268	.	.	.	.	.	T	0.34250	0.0891	.	.	.	0.53688	D	0.999979	.	.	.	.	.	.	T	0.37526	-0.9702	4	.	.	.	.	1.5654	0.02603	0.4566:0.1746:0.194:0.1749	.	.	.	.	W	33	.	.	R	-	1	2	SBF1	49240576	0.000000	0.05858	0.813000	0.32504	0.952000	0.60782	-1.245000	0.02899	-1.921000	0.01068	-0.339000	0.08088	CGG		0.667	SBF1-201	KNOWN	basic	protein_coding	protein_coding				4	32	0	0	0	1	0	4	32				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	24	0	0	0	1	0	3	24				
ELAVL2	1993	broad.mit.edu	37	9	23731123	23731123	+	Splice_Site	SNP	C	C	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr9:23731123C>G	ENST00000397312.2	-	3	504	c.230G>C	c.(229-231)gGg>gCg	p.G77A	ELAVL2_ENST00000223951.6_Splice_Site_p.G77A|ELAVL2_ENST00000380110.4_Splice_Site_p.G106A|ELAVL2_ENST00000380117.1_Splice_Site_p.G77A|ELAVL2_ENST00000544538.1_Splice_Site_p.G77A	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	77	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CAAGCTCTGCCCTAATGAAAA	0.393																																						ENST00000397312.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39						c.e3-1		ELAV like neuron-specific RNA binding protein 2							106.0	88.0	94.0					9																	23731123		2203	4299	6502	SO:0001630	splice_region_variant	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23731123C>G	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.230-1G>C	9.37:g.23731123C>G						ELAVL2_ENST00000380117.1_Splice_Site_p.G77_splice|ELAVL2_ENST00000544538.1_Splice_Site_p.G77_splice|ELAVL2_ENST00000380110.4_Splice_Site_p.G106_splice|ELAVL2_ENST00000223951.6_Splice_Site_p.G77_splice	p.G77_splice	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	3	504	-			77			RRM 1.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Splice_Site	SNP	ENST00000397312.2	37	c.229_splice	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548904	0.86127	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.81330	2.79;-1.48;-1.48;-1.48;2.79	5.87	5.87	0.94306	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.87362	0.6158	M	0.91140	3.18	0.80722	D	1	B;P	0.48998	0.401;0.918	B;B	0.44108	0.146;0.441	D	0.89910	0.4051	10	0.87932	D	0	.	20.1777	0.98189	0.0:1.0:0.0:0.0	.	77;77	Q12926;Q12926-2	ELAV2_HUMAN;.	A	77;77;77;77;77;105;77	ENSP00000223951:G77A;ENSP00000380479:G77A;ENSP00000440998:G77A;ENSP00000369460:G77A;ENSP00000412602:G77A	ENSP00000223951:G77A	G	-	2	0	ELAVL2	23721123	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.248000	0.78268	2.941000	0.99782	0.655000	0.94253	GGG		0.393	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432	Missense_Mutation	17	28	0	0	0	1	0	17	28				
PACS2	23241	broad.mit.edu	37	14	105849745	105849745	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr14:105849745G>A	ENST00000325438.8	+	16	2167	c.1663G>A	c.(1663-1665)Gga>Aga	p.G555R	PACS2_ENST00000447393.1_Missense_Mutation_p.G559R|PACS2_ENST00000430725.2_Missense_Mutation_p.G480R|PACS2_ENST00000551743.1_Missense_Mutation_p.G69R|PACS2_ENST00000547217.1_Missense_Mutation_p.G525R|PACS2_ENST00000458164.2_Missense_Mutation_p.G559R			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	555					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CGCCGTGGCGGGAGCGCAGCA	0.642																																						ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(1675-1677)Gga>Aga		phosphofurin acidic cluster sorting protein 2							64.0	64.0	64.0					14																	105849745		2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105849745G>A	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1663G>A	14.37:g.105849745G>A	ENSP00000321834:p.Gly555Arg					PACS2_ENST00000325438.8_Missense_Mutation_p.G555R|PACS2_ENST00000458164.2_Missense_Mutation_p.G559R|PACS2_ENST00000547217.1_Missense_Mutation_p.G525R|PACS2_ENST00000430725.2_Missense_Mutation_p.G480R|PACS2_ENST00000551743.1_Missense_Mutation_p.G69R	p.G559R	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	16	1850	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	555					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.1675G>A	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550940	0.86127	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.82967	0.5152	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.97110	0.994;0.99;0.973;1.0	D	0.86651	0.1898	10	0.87932	D	0	-30.4412	15.3881	0.74718	0.0:0.0:1.0:0.0	.	559;559;555;556	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	R	480;555;559;559;525;69	ENSP00000393524:G480R;ENSP00000321834:G555R;ENSP00000399732:G559R;ENSP00000393559:G559R;ENSP00000449525:G525R;ENSP00000449254:G69R	ENSP00000321834:G555R	G	+	1	0	PACS2	104920790	1.000000	0.71417	0.803000	0.32268	0.942000	0.58702	9.594000	0.98254	2.037000	0.60232	0.462000	0.41574	GGA		0.642	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		3	111	0	0	0	1	0	3	111				
MECOM	2122	broad.mit.edu	37	3	168819875	168819875	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr3:168819875C>T	ENST00000464456.1	-	9	3353	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	MECOM_ENST00000460814.1_Missense_Mutation_p.R718Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R727Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R906Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R728Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R728Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R792Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R727Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTTCCCTTCCGCAGAAGGTT	0.502																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2152-2154)cGg>cAg		MDS1 and EVI1 complex locus							68.0	65.0	66.0					3																	168819875		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168819875C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2153G>A	3.37:g.168819875C>T	ENSP00000419770:p.Arg718Gln					MECOM_ENST00000468789.1_Missense_Mutation_p.R727Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R906Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R718Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R728Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R727Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R792Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R728Q	p.R718Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			9	3353	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2153G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.028087	0.93518	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07021	3.26;3.23;3.26;3.36;3.25;3.23;3.25;3.36	5.45	5.45	0.79879	.	0.095984	0.43747	D	0.000527	T	0.18676	0.0448	L	0.61218	1.895	0.80722	D	1	P;D;B;B;B	0.56521	0.647;0.976;0.367;0.178;0.258	B;P;B;B;B	0.48704	0.124;0.587;0.091;0.027;0.04	T	0.00194	-1.1933	10	0.62326	D	0.03	-9.2499	19.688	0.95987	0.0:1.0:0.0:0.0	.	915;719;906;792;727	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Q	792;727;718;728;906;727;718;728	ENSP00000264674:R792Q;ENSP00000376493:R727Q;ENSP00000419770:R718Q;ENSP00000420048:R728Q;ENSP00000417899:R906Q;ENSP00000419995:R727Q;ENSP00000420466:R718Q;ENSP00000394302:R728Q	ENSP00000264674:R792Q	R	-	2	0	MECOM	170302569	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.434000	0.80377	2.730000	0.93505	0.655000	0.94253	CGG		0.502	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		15	41	0	0	0	1	0	15	41				
C6	729	broad.mit.edu	37	5	41159224	41159224	+	Nonsense_Mutation	SNP	G	G	A	rs191386155		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr5:41159224G>A	ENST00000263413.3	-	12	2080	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Nonsense_Mutation_p.R606*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	606	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCCTCTTGTCGCTTCTCCCCC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19718	0.001		0.0	False		,,,				2504	0.0					ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1816-1818)Cga>Tga		complement component 6							134.0	143.0	140.0					5																	41159224		2203	4300	6503	SO:0001587	stop_gained	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41159224G>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1816C>T	5.37:g.41159224G>A	ENSP00000263413:p.Arg606*					C6_ENST00000337836.5_Nonsense_Mutation_p.R606*	p.R606*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			12	2080	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	606			TSP type-1 3.			Nonsense_Mutation	SNP	ENST00000263413.3	37	c.1816C>T	CCDS3936.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	37	6.024695	0.97211	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	5.64	0.227	0.15359	.	0.760891	0.13230	N	0.403706	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-2.9364	3.556	0.07865	0.0796:0.1783:0.3112:0.4309	.	.	.	.	X	606	.	ENSP00000263413:R606X	R	-	1	2	C6	41194981	0.000000	0.05858	0.008000	0.14137	0.249000	0.25844	0.686000	0.25392	0.114000	0.18032	-0.188000	0.12872	CGA		0.468	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			49	115	0	0	0	1	0	49	115				
KCNN1	3780	broad.mit.edu	37	19	18092575	18092575	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr19:18092575G>A	ENST00000222249.9	+	5	875	c.556G>A	c.(556-558)Gtg>Atg	p.V186M		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1	186					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	CTGCGAGCGCGTGTTCCTCAT	0.662																																						ENST00000601725.1																			0																				32.0	32.0	32.0					19																	18092575		2162	4238	6400	SO:0001583	missense	0							g.chr19:18092575G>A	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.556G>A	19.37:g.18092575G>A	ENSP00000476519:p.Val186Met													0	191	+								Q5KR10|Q6DJU4	RNA	SNP	ENST00000222249.9	37			.	.	.	.	.	.	.	.	.	.	G	15.63	2.890923	0.52014	.	.	ENSG00000105642	ENST00000222249;ENST00000536713	.	.	.	5.04	1.47	0.22746	Potassium channel, calcium-activated, SK, conserved region (1);	0.065165	0.56097	D	0.000022	T	0.46483	0.1395	L	0.52759	1.655	0.33643	D	0.607461	P	0.47191	0.891	P	0.51487	0.671	T	0.57329	-0.7830	9	0.62326	D	0.03	-25.8078	5.3025	0.15785	0.5298:0.0:0.4702:0.0	.	186	Q92952	KCNN1_HUMAN	M	203;186	.	ENSP00000222249:V203M	V	+	1	0	KCNN1	17953575	0.999000	0.42202	0.010000	0.14722	0.529000	0.34654	3.651000	0.54431	0.533000	0.28675	0.561000	0.74099	GTG		0.662	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		11	44	0	0	0	1	0	11	44				
ZNF296	162979	broad.mit.edu	37	19	45579626	45579626	+	Silent	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr19:45579626G>A	ENST00000303809.2	-	1	220	c.6C>T	c.(4-6)tcC>tcT	p.S2S	CTB-179K24.3_ENST00000586744.1_RNA|GEMIN7_ENST00000391951.2_5'Flank|GEMIN7_ENST00000591607.1_5'Flank|GEMIN7_ENST00000591747.1_5'Flank|GEMIN7_ENST00000270257.4_5'Flank	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	2					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CCTTGCGGCGGGACATGAGTC	0.751																																						ENST00000303809.2																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						c.(4-6)tcC>tcT		zinc finger protein 296							9.0	11.0	11.0					19																	45579626		1866	3598	5464	SO:0001819	synonymous_variant	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45579626G>A	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.6C>T	19.37:g.45579626G>A							p.S2S	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN			1	220	-			2						Silent	SNP	ENST00000303809.2	37	c.6C>T	CCDS12653.1																																																																																				0.751	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		3	41	0	0	0	1	0	3	41				
TRPM5	29850	broad.mit.edu	37	11	2432663	2432663	+	Missense_Mutation	SNP	G	G	A	rs367824428		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr11:2432663G>A	ENST00000155858.6	-	18	2709	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	TRPM5_ENST00000528453.1_Missense_Mutation_p.R901C|TRPM5_ENST00000452833.1_Missense_Mutation_p.R903C|TRPM5_ENST00000533060.1_Missense_Mutation_p.R901C	NM_014555.3	NP_055370.1			transient receptor potential cation channel, subfamily M, member 5											breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACTCCAGGCGGCCGTCATGG	0.617																																					NSCLC(1;49 61 17205 18850 43201)	ENST00000452833.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2707-2709)Cgc>Tgc		transient receptor potential cation channel, subfamily M, member 5		G	CYS/ARG	0,4396		0,0,2198	33.0	37.0	36.0		2701	3.9	1.0	11		36	1,8587	1.2+/-3.3	0,1,4293	no	missense	TRPM5	NM_014555.3	180	0,1,6491	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	901/1166	2432663	1,12983	2198	4294	6492	SO:0001583	missense	29850					integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity	g.chr11:2432663G>A	AF177473	CCDS31340.1	11p15.5	2011-12-14			ENSG00000070985	ENSG00000070985		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	14323	protein-coding gene	gene with protein product		604600				10607831, 16382100	Standard	NM_014555		Approved	LTRPC5, MTR1	uc001lwm.4	Q9NZQ8	OTTHUMG00000009896	ENST00000155858.6:c.2701C>T	11.37:g.2432663G>A	ENSP00000155858:p.Arg901Cys					TRPM5_ENST00000155858.6_Missense_Mutation_p.R901C|TRPM5_ENST00000528453.1_Missense_Mutation_p.R901C|TRPM5_ENST00000533060.1_Missense_Mutation_p.R901C	p.R903C			Q9NZQ8	TRPM5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)	18	2715	-		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)	901						Missense_Mutation	SNP	ENST00000155858.6	37	c.2707C>T	CCDS31340.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538341	0.65085	0.0	1.16E-4	ENSG00000070985	ENST00000533881;ENST00000155858;ENST00000452833;ENST00000533060;ENST00000528453	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	3.89	3.89	0.44902	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.984;0.984;0.969	D	0.88464	0.3057	10	0.59425	D	0.04	-23.2025	15.2605	0.73617	0.0:0.0:1.0:0.0	.	901;903;901	E9PRW0;Q9NZQ8-2;Q9NZQ8	.;.;TRPM5_HUMAN	C	895;901;903;901;901	ENSP00000434383:R895C;ENSP00000155858:R901C;ENSP00000387965:R903C;ENSP00000434121:R901C;ENSP00000436809:R901C	ENSP00000155858:R901C	R	-	1	0	TRPM5	2389239	1.000000	0.71417	0.971000	0.41717	0.880000	0.50808	4.748000	0.62148	1.928000	0.55862	0.561000	0.74099	CGC		0.617	TRPM5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000027378.1	NM_014555		19	27	0	0	0	1	0	19	27				
XCL1	6375	broad.mit.edu	37	1	168549329	168549329	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr1:168549329G>C	ENST00000367818.3	+	2	255	c.90G>C	c.(88-90)agG>agC	p.R30S		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	30					cell-cell signaling (GO:0007267)|cellular response to interleukin-4 (GO:0071353)|cellular response to transforming growth factor beta stimulus (GO:0071560)|immune response (GO:0006955)|mature natural killer cell chemotaxis (GO:0035782)|negative regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000562)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T cell cytokine production (GO:0002725)|negative regulation of T-helper 1 cell activation (GO:2000518)|negative regulation of T-helper 1 type immune response (GO:0002826)|negative regulation of transcription, DNA-templated (GO:0045892)|neutrophil chemotaxis (GO:0030593)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000566)|positive regulation of granzyme A production (GO:2000513)|positive regulation of granzyme B production (GO:0071663)|positive regulation of immunoglobulin production in mucosal tissue (GO:2000558)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 cell cytokine production (GO:2000556)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of thymocyte migration (GO:2000412)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of inflammatory response (GO:0050727)|release of sequestered calcium ion into cytosol (GO:0051209)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|protein homodimerization activity (GO:0042803)			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					CAGATAAGAGGACCTGTGTGA	0.458																																						ENST00000367818.3																			0				kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10						c.(88-90)agG>agC		chemokine (C motif) ligand 1							137.0	138.0	137.0					1																	168549329		2203	4300	6503	SO:0001583	missense	6375				CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity	g.chr1:168549329G>C	D43768	CCDS1274.1	1q24.2	2014-01-30	2002-08-22	2002-08-23	ENSG00000143184	ENSG00000143184		"""Endogenous ligands"""	10645	protein-coding gene	gene with protein product		600250	"""small inducible cytokine subfamily C, member 1 (lymphotactin)"""	LTN, SCYC1		7602097, 7875320	Standard	NM_002995		Approved	LPTN, ATAC, SCM-1a, SCM-1, lymphotactin	uc001gfo.2	P47992	OTTHUMG00000034548	ENST00000367818.3:c.90G>C	1.37:g.168549329G>C	ENSP00000356792:p.Arg30Ser						p.R30S	NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN			2	255	+	all_hematologic(923;0.208)		30					Q52MA8	Missense_Mutation	SNP	ENST00000367818.3	37	c.90G>C	CCDS1274.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.717673	0.00706	.	.	ENSG00000143184	ENST00000367818	T	0.04015	3.73	4.36	-7.71	0.01254	Chemokine interleukin-8-like domain (3);	0.673392	0.14425	N	0.320416	T	0.00241	0.0007	N	0.00471	-1.455	0.20703	N	0.99986	B	0.06786	0.001	B	0.04013	0.001	T	0.36187	-0.9758	9	0.02654	T	1	-4.923	1.4394	0.02350	0.2343:0.3592:0.2408:0.1656	.	30	P47992	XCL1_HUMAN	S	30	ENSP00000356792:R30S	ENSP00000356792:R30S	R	+	3	2	XCL1	166815953	0.000000	0.05858	0.000000	0.03702	0.382000	0.30200	-1.642000	0.02006	-1.268000	0.02439	-0.256000	0.11100	AGG		0.458	XCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083612.1	NM_002995		19	71	0	0	0	1	0	19	71				
TSC22D1	8848	broad.mit.edu	37	13	45148696	45148696	+	Silent	SNP	T	T	C			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr13:45148696T>C	ENST00000458659.2	-	1	2005	c.1515A>G	c.(1513-1515)caA>caG	p.Q505Q	TSC22D1_ENST00000501704.2_Silent_p.Q505Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	505	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		gttgctgttgttgttgttgtt	0.507																																						ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1513-1515)caA>caG		TSC22 domain family, member 1							86.0	86.0	86.0					13																	45148696		2203	4300	6503	SO:0001819	synonymous_variant	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148696T>C	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1515A>G	13.37:g.45148696T>C						TSC22D1_ENST00000501704.2_Silent_p.Q505Q	p.Q505Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2005	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	505			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Silent	SNP	ENST00000458659.2	37	c.1515A>G	CCDS31966.1																																																																																				0.507	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		42	80	0	0	0	1	0	42	80				
OVOS2	144203	broad.mit.edu	37	12	31269315	31269315	+	RNA	SNP	A	A	G	rs17418189	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr12:31269315A>G	ENST00000542490.1	-	0	140																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						GAGGTCAAAAACAGTCAAAGA	0.363																																						ENST00000542490.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41															112.0	109.0	110.0					12																	31269315		1851	4092	5943			0							g.chr12:31269315A>G																													12.37:g.31269315A>G														0	140	-									RNA	SNP	ENST00000542490.1	37																																																																																						0.363	RP11-551L14.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400342.1			3	102	0	0	0	1	0	3	102				
IGDCC3	9543	broad.mit.edu	37	15	65667629	65667629	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr15:65667629C>T	ENST00000327987.4	-	2	466	c.215G>A	c.(214-216)cGa>cAa	p.R72Q		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	72	Ig-like C2-type 1.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGGTGATTCGCACTGGAGG	0.592																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(214-216)cGa>cAa		immunoglobulin superfamily, DCC subclass, member 3							71.0	53.0	59.0					15																	65667629		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65667629C>T	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.215G>A	15.37:g.65667629C>T	ENSP00000332773:p.Arg72Gln						p.R72Q	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			2	466	-			72			Ig-like C2-type 1.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.215G>A	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	C	5.030	0.191255	0.09547	.	.	ENSG00000174498	ENST00000327987	T	0.65916	-0.18	5.63	2.74	0.32292	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.521330	0.16320	N	0.219604	T	0.41119	0.1145	N	0.17764	0.52	0.23776	N	0.996878	B	0.18310	0.027	B	0.15052	0.012	T	0.19976	-1.0289	10	0.21014	T	0.42	-0.948	6.6442	0.22927	0.0:0.5582:0.2219:0.22	.	72	Q8IVU1	IGDC3_HUMAN	Q	72	ENSP00000332773:R72Q	ENSP00000332773:R72Q	R	-	2	0	IGDCC3	63454682	1.000000	0.71417	0.965000	0.40720	0.169000	0.22640	1.257000	0.32932	0.319000	0.23209	-0.137000	0.14449	CGA		0.592	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		13	32	0	0	0	1	0	13	32				
RYR2	6262	broad.mit.edu	37	1	237982395	237982395	+	Silent	SNP	C	C	T	rs375456172		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr1:237982395C>T	ENST00000366574.2	+	101	14810	c.14493C>T	c.(14491-14493)atC>atT	p.I4831I	RYR2_ENST00000360064.6_Silent_p.I4837I|RYR2_ENST00000542537.1_Silent_p.I4815I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4831					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.I4829I(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATGAAATCGAAGACCCAG	0.413																																						ENST00000366574.2																			2	Substitution - coding silent(2)	p.I4829I(2)	large_intestine(2)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(14491-14493)atC>atT		ryanodine receptor 2 (cardiac)		C		1,3871		0,1,1935	214.0	214.0	214.0		14493	-4.7	0.9	1		214	0,8270		0,0,4135	no	coding-synonymous	RYR2	NM_001035.2		0,1,6070	TT,TC,CC		0.0,0.0258,0.0082		4831/4968	237982395	1,12141	1936	4135	6071	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237982395C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.14493C>T	1.37:g.237982395C>T						RYR2_ENST00000542537.1_Silent_p.I4815I|RYR2_ENST00000360064.6_Silent_p.I4837I	p.I4831I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		101	14810	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4831					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.14493C>T	CCDS55691.1																																																																																				0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		24	41	0	0	0	1	0	24	41				
HERC2P3	283755	broad.mit.edu	37	15	20644645	20644645	+	RNA	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr15:20644645G>A	ENST00000428453.1	-	0	3187							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACCTCTGAGTGATGGCACTAC	0.632																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35																																														0							g.chr15:20644645G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644645G>A														0	3187	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.632	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		3	15	0	0	0	1	0	3	15				
IRAK1	3654	broad.mit.edu	37	X	153278063	153278063	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chrX:153278063C>T	ENST00000369980.3	-	13	2164	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	IRAK1_ENST00000393682.1_Missense_Mutation_p.R647Q|IRAK1_ENST00000393687.2_Missense_Mutation_p.R636Q|IRAK1_ENST00000369974.2_Missense_Mutation_p.R587Q|IRAK1_ENST00000429936.2_Missense_Mutation_p.R662Q|IRAK1_ENST00000477274.1_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	666					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCTTCTGTCGGGCAGGGTT	0.632																																						ENST00000369980.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25						c.(1996-1998)cGa>cAa		interleukin-1 receptor-associated kinase 1							113.0	85.0	94.0					X																	153278063		2203	4300	6503	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153278063C>T	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1997G>A	X.37:g.153278063C>T	ENSP00000358997:p.Arg666Gln					IRAK1_ENST00000393687.2_Missense_Mutation_p.R636Q|IRAK1_ENST00000369974.2_Missense_Mutation_p.R587Q|IRAK1_ENST00000429936.2_Missense_Mutation_p.R662Q|IRAK1_ENST00000393682.1_Missense_Mutation_p.R647Q|IRAK1_ENST00000477274.1_Intron	p.R666Q	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN			13	2164	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		666					D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.1997G>A	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.871528|4.871528	0.91587|0.91587	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000455690;ENST00000437278|ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936	T|T;T;T;T;T	0.24538|0.27256	1.85|1.68;1.68;1.68;1.68;1.68	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.43416	.|D	.|0.000570	T|T	0.41789|0.41789	0.1174|0.1174	L|L	0.34521|0.34521	1.04|1.04	0.21915|0.21915	N|N	0.999471|0.999471	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.984;0.996;0.998	T|T	0.30504|0.30504	-0.9976|-0.9976	6|10	.|0.66056	.|D	.|0.02	-12.194|-12.194	16.0863|16.0863	0.81056|0.81056	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|587;666;636	.|P51617-4;P51617;P51617-2	.|.;IRAK1_HUMAN;.	N|Q	116;230|666;587;647;636;662	ENSP00000411809:D116N|ENSP00000358997:R666Q;ENSP00000358991:R587Q;ENSP00000377287:R647Q;ENSP00000377291:R636Q;ENSP00000392662:R662Q	.|ENSP00000358991:R587Q	D|R	-|-	1|2	0|0	IRAK1|IRAK1	152931257|152931257	0.993000|0.993000	0.37304|0.37304	0.801000|0.801000	0.32222|0.32222	0.966000|0.966000	0.64601|0.64601	3.238000|3.238000	0.51352|0.51352	2.516000|2.516000	0.84829|0.84829	0.594000|0.594000	0.82650|0.82650	GAC|CGA		0.632	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			31	30	0	0	0	1	0	31	30				
KLK6	5653	broad.mit.edu	37	19	51462556	51462556	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr19:51462556G>A	ENST00000376851.3	-	6	1038	c.599C>T	c.(598-600)cCg>cTg	p.P200L	CTB-147C22.8_ENST00000594939.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.P200L|KLK6_ENST00000594641.1_Missense_Mutation_p.P200L|KLK6_ENST00000456750.2_Missense_Mutation_p.P93L|KLK6_ENST00000391808.1_Missense_Mutation_p.P93L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Missense_Mutation_p.R72C	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	200	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amyloid precursor protein metabolic process (GO:0042982)|central nervous system development (GO:0007417)|collagen catabolic process (GO:0030574)|hormone metabolic process (GO:0042445)|myelination (GO:0042552)|neuron death (GO:0070997)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|protein autoprocessing (GO:0016540)|regulation of cell differentiation (GO:0045595)|regulation of neuron projection development (GO:0010975)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)	p.P200L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ACATACCAGCGGACCCCCAGA	0.527																																						ENST00000376851.3																			1	Substitution - Missense(1)	p.P200L(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13						c.(598-600)cCg>cTg		kallikrein-related peptidase 6							130.0	120.0	124.0					19																	51462556		2203	4300	6503	SO:0001583	missense	5653				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	g.chr19:51462556G>A	U62801	CCDS12811.1, CCDS42599.1	19q13.3	2011-09-07	2006-10-27			ENSG00000167755		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6367	protein-coding gene	gene with protein product		602652	"""protease, serine, 18"", ""kallikrein 6 (neurosin, zyme)"""	PRSS9, PRSS18		9003450, 16800724, 16800723	Standard	NM_002774		Approved	Bssp, Klk7, neurosin	uc002pui.3	Q92876		ENST00000376851.3:c.599C>T	19.37:g.51462556G>A	ENSP00000366047:p.Pro200Leu					KLK6_ENST00000391808.1_Missense_Mutation_p.P93L|KLK6_ENST00000310157.2_Missense_Mutation_p.P200L|KLK6_ENST00000594641.1_Missense_Mutation_p.P200L|KLK6_ENST00000456750.2_Missense_Mutation_p.P93L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Missense_Mutation_p.R72C	p.P200L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)	6	1038	-		all_neural(266;0.026)	200			Peptidase S1.		A6NJA1|A8MW09|Q6H301	Missense_Mutation	SNP	ENST00000376851.3	37	c.599C>T	CCDS12811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	14.33|14.33	2.503903|2.503903	0.44558|0.44558	.|.	.|.	ENSG00000167755|ENSG00000167755	ENST00000310157;ENST00000376851;ENST00000391808;ENST00000456750|ENST00000376853	D;D;D;D|D	0.98684|0.83506	-5.07;-5.07;-5.07;-5.07|-1.73	3.89|3.89	3.89|3.89	0.44902|0.44902	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	.|.	.|.	.|.	.|.	D|D	0.91334|0.91334	0.7267|0.7267	H|H	0.99498|0.99498	4.595|4.595	0.80722|0.80722	D|D	1|1	D;D|P	0.89917|0.50710	1.0;1.0|0.938	D;D|P	0.97110|0.45099	0.996;1.0|0.469	D|D	0.94608|0.94608	0.7802|0.7802	9|9	0.87932|0.87932	D|D	0|0	.|.	13.7773|13.7773	0.63062|0.63062	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200;93|72	Q92876;Q92876-2|E7ETY0	KLK6_HUMAN;.|.	L|C	200;200;93;93|72	ENSP00000309148:P200L;ENSP00000366047:P200L;ENSP00000375684:P93L;ENSP00000409241:P93L|ENSP00000366049:R72C	ENSP00000309148:P200L|ENSP00000366049:R72C	P|R	-|-	2|1	0|0	KLK6|KLK6	56154368|56154368	1.000000|1.000000	0.71417|0.71417	0.341000|0.341000	0.25589|0.25589	0.018000|0.018000	0.09664|0.09664	8.539000|8.539000	0.90637|0.90637	2.156000|2.156000	0.67533|0.67533	0.645000|0.645000	0.84053|0.84053	CCG|CGC		0.527	KLK6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465060.1	NM_002774		18	37	0	0	0	1	0	18	37				
APOB	338	broad.mit.edu	37	2	21252827	21252827	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr2:21252827C>T	ENST00000233242.1	-	11	1540	c.1413G>A	c.(1411-1413)atG>atA	p.M471I	APOB_ENST00000399256.4_Missense_Mutation_p.M471I	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	471	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				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)					GAATCTGTTCCATCAGGTAAT	0.428																																						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.(1411-1413)atG>atA		apolipoprotein B	Atorvastatin(DB01076)						172.0	172.0	172.0					2																	21252827		2203	4300	6503	SO:0001583	missense	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.chr2:21252827C>T	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.1413G>A	2.37:g.21252827C>T	ENSP00000233242:p.Met471Ile					APOB_ENST00000399256.4_Missense_Mutation_p.M471I	p.M471I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			11	1540	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		471			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.1413G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	2.903	-0.227129	0.06022	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.32023	1.47;1.47	4.86	2.95	0.34219	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	1.755510	0.03211	N	0.176191	T	0.25938	0.0632	L	0.40543	1.245	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.18461	-1.0336	10	0.20046	T	0.44	.	5.1972	0.15245	0.0:0.4784:0.3036:0.218	.	471	P04114	APOB_HUMAN	I	471	ENSP00000233242:M471I;ENSP00000382200:M471I	ENSP00000233242:M471I	M	-	3	0	APOB	21106332	0.001000	0.12720	0.294000	0.24946	0.114000	0.19823	-0.128000	0.10531	1.198000	0.43158	0.655000	0.94253	ATG		0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			11	131	0	0	0	1	0	11	131				
LRRC61	65999	broad.mit.edu	37	7	150034141	150034141	+	Missense_Mutation	SNP	C	C	T	rs200488388		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr7:150034141C>T	ENST00000359623.4	+	3	779	c.191C>T	c.(190-192)gCg>gTg	p.A64V	LRRC61_ENST00000323078.7_Missense_Mutation_p.A64V|LRRC61_ENST00000493307.1_Missense_Mutation_p.A64V	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	64										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCAGGCAACGCGCTCACCCAC	0.652																																						ENST00000359623.4																			0				endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(190-192)gCg>gTg		leucine rich repeat containing 61		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	62.0	53.0	56.0		191,191	1.0	0.1	7		56	0,8598		0,0,4299	yes	missense,missense	LRRC61	NM_001142928.1,NM_023942.2	64,64	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	64/260,64/260	150034141	1,13003	2203	4299	6502	SO:0001583	missense	65999							g.chr7:150034141C>T	BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.191C>T	7.37:g.150034141C>T	ENSP00000352642:p.Ala64Val					LRRC61_ENST00000323078.7_Missense_Mutation_p.A64V|LRRC61_ENST00000493307.1_Missense_Mutation_p.A64V	p.A64V	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)		3	779	+			64					B3KUW0|D3DWY8	Missense_Mutation	SNP	ENST00000359623.4	37	c.191C>T	CCDS5901.1	.	.	.	.	.	.	.	.	.	.	C	8.293	0.818083	0.16607	2.27E-4	0.0	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	T;T;T	0.09630	2.96;2.96;2.96	4.97	1.05	0.20165	.	0.357724	0.28549	N	0.014943	T	0.08935	0.0221	M	0.64260	1.97	0.09310	N	1	B	0.20368	0.044	B	0.12156	0.007	T	0.34229	-0.9837	10	0.19147	T	0.46	-5.4948	3.5676	0.07905	0.2937:0.4507:0.0:0.2555	.	64	Q9BV99	LRC61_HUMAN	V	64	ENSP00000339047:A64V;ENSP00000352642:A64V;ENSP00000420560:A64V	ENSP00000339047:A64V	A	+	2	0	LRRC61	149665074	0.002000	0.14202	0.102000	0.21198	0.740000	0.42216	-0.017000	0.12590	0.158000	0.19367	-1.130000	0.01982	GCG		0.652	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350696.1	NM_023942		4	114	0	0	0	1	0	4	114				
BNIP1	662	broad.mit.edu	37	5	172590800	172590800	+	Missense_Mutation	SNP	G	G	A	rs148150409	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr5:172590800G>A	ENST00000351486.5	+	6	594	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	BNIP1_ENST00000231668.9_Missense_Mutation_p.R231Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R197Q|BNIP1_ENST00000393770.4_Missense_Mutation_p.R154Q	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	188					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCTGGGCCGGAAGCTTATC	0.488																																						ENST00000231668.9																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(691-693)cGg>cAg		BCL2/adenovirus E1B 19kDa interacting protein 1		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,4403	6.2+/-15.9	0,3,2200	96.0	92.0	94.0		563,461,692,590	5.8	1.0	5	dbSNP_134	94	0,8600		0,0,4300	yes	missense,missense,missense,missense	BNIP1	NM_001205.2,NM_013978.2,NM_013979.2,NM_013980.2	43,43,43,43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging	188/229,154/195,231/272,197/238	172590800	3,13003	2203	4300	6503	SO:0001583	missense	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding	g.chr5:172590800G>A	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.563G>A	5.37:g.172590800G>A	ENSP00000239215:p.Arg188Gln					BNIP1_ENST00000352523.6_Missense_Mutation_p.R197Q|BNIP1_ENST00000393770.4_Missense_Mutation_p.R154Q|BNIP1_ENST00000351486.5_Missense_Mutation_p.R188Q	p.R231Q	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	796	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	188					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.692G>A	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515560	0.85389	6.81E-4	0.0	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.49432	0.78;0.81;0.86;0.78	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.69160	0.3080	M	0.76002	2.32	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.997;0.999	D;P;P;D	0.67725	0.923;0.886;0.772;0.953	T	0.66324	-0.5952	10	0.38643	T	0.18	.	19.9468	0.97185	0.0:0.0:1.0:0.0	.	154;197;188;231	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	Q	231;188;197;154	ENSP00000231668:R231Q;ENSP00000239215:R188Q;ENSP00000239214:R197Q;ENSP00000377365:R154Q	ENSP00000231668:R231Q	R	+	2	0	BNIP1	172523406	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	9.476000	0.97823	2.714000	0.92807	0.650000	0.86243	CGG		0.488	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		3	86	0	0	0	1	0	3	86				
DLGAP3	58512	broad.mit.edu	37	1	35370062	35370062	+	Missense_Mutation	SNP	G	G	A	rs147968723		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr1:35370062G>A	ENST00000373347.1	-	3	1191	c.923C>T	c.(922-924)tCg>tTg	p.S308L	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Missense_Mutation_p.S308L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	308					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCGGCCTTCCGACCCGCCCGA	0.667																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(922-924)tCg>tTg		discs, large (Drosophila) homolog-associated protein 3		G	LEU/SER	0,4406		0,0,2203	44.0	47.0	46.0		923	4.5	1.0	1	dbSNP_134	46	1,8599		0,1,4299	no	missense	DLGAP3	NM_001080418.1	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	308/980	35370062	1,13005	2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370062G>A	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.923C>T	1.37:g.35370062G>A	ENSP00000362444:p.Ser308Leu					DLGAP3_ENST00000235180.4_Missense_Mutation_p.S308L	p.S308L			O95886	DLGP3_HUMAN			3	1191	-		Myeloproliferative disorder(586;0.0393)	308					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.923C>T	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936986	0.34189	0.0	1.16E-4	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.26518	1.73;1.73	4.49	4.49	0.54785	.	0.758341	0.11813	N	0.526959	T	0.20414	0.0491	L	0.29908	0.895	0.23304	N	0.997947	B	0.26318	0.146	B	0.17098	0.017	T	0.09818	-1.0657	10	0.66056	D	0.02	-1.0832	12.2235	0.54447	0.0:0.3173:0.6827:0.0	.	308	O95886	DLGP3_HUMAN	L	308	ENSP00000362444:S308L;ENSP00000235180:S308L	ENSP00000235180:S308L	S	-	2	0	DLGAP3	35142649	0.998000	0.40836	0.970000	0.41538	0.964000	0.63967	3.666000	0.54540	2.492000	0.84095	0.655000	0.94253	TCG		0.667	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		25	67	0	0	0	1	0	25	67				
MRPL54	116541	broad.mit.edu	37	19	3762707	3762707	+	Silent	SNP	C	C	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr19:3762707C>G	ENST00000330133.4	+	1	46	c.9C>G	c.(7-9)acC>acG	p.T3T	APBA3_ENST00000316757.3_5'Flank	NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	3						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGCGACCAAACGCCTTT	0.632																																						ENST00000330133.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						c.(7-9)acC>acG		mitochondrial ribosomal protein L54							64.0	73.0	70.0					19																	3762707		2203	4300	6503	SO:0001819	synonymous_variant	116541					mitochondrion|ribosome		g.chr19:3762707C>G		CCDS12111.1	19p13.3	2012-11-14			ENSG00000183617	ENSG00000183617		"""Mitochondrial ribosomal proteins / large subunits"""	16685	protein-coding gene	gene with protein product		611858				11551941	Standard	NM_172251		Approved		uc002lyq.4	Q6P161	OTTHUMG00000180873	ENST00000330133.4:c.9C>G	19.37:g.3762707C>G							p.T3T	NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	1	46	+		Hepatocellular(1079;0.137)	3						Silent	SNP	ENST00000330133.4	37	c.9C>G	CCDS12111.1																																																																																				0.632	MRPL54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453443.1	NM_172251		37	105	0	0	0	1	0	37	105				
ALDH1L1	10840	broad.mit.edu	37	3	125824675	125824675	+	Silent	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr3:125824675G>A	ENST00000393434.2	-	22	2896	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V	ALDH1L1_ENST00000452905.2_Silent_p.V748V|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000273450.3_Silent_p.V859V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Silent_p.V849V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	849	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCTTGTCACTGACATACAGGG	0.552																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(2545-2547)gtC>gtT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						187.0	175.0	179.0					3																	125824675		2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125824675G>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2547C>T	3.37:g.125824675G>A						ALDH1L1_ENST00000472186.1_Silent_p.V849V|ALDH1L1_ENST00000452905.2_Silent_p.V748V|ALDH1L1_ENST00000273450.3_Silent_p.V859V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA	p.V849V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	22	2896	-			849			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.2547C>T	CCDS3034.1																																																																																				0.552	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		5	177	0	0	0	1	0	5	177				
C9orf172	389813	broad.mit.edu	37	9	139740894	139740894	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr9:139740894G>T	ENST00000436881.1	+	1	2028	c.2028G>T	c.(2026-2028)atG>atT	p.M676I	PHPT1_ENST00000247665.10_5'Flank|PHPT1_ENST00000545326.1_5'Flank|PHPT1_ENST00000371661.1_5'Flank	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	676										endometrium(2)|large_intestine(1)|lung(6)	9						CCGAGACCATGTTCAACGCCT	0.692																																						ENST00000436881.1																			0				endometrium(2)|large_intestine(1)|lung(6)	9						c.(2026-2028)atG>atT		chromosome 9 open reading frame 172							23.0	28.0	26.0					9																	139740894		2070	4163	6233	SO:0001583	missense	389813							g.chr9:139740894G>T		CCDS48059.1	9q34.3	2012-04-03			ENSG00000232434	ENSG00000232434			37284	protein-coding gene	gene with protein product							Standard	NM_001080482		Approved		uc011meh.2	C9J069		ENST00000436881.1:c.2028G>T	9.37:g.139740894G>T	ENSP00000412388:p.Met676Ile						p.M676I	NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN			1	2028	+			676						Missense_Mutation	SNP	ENST00000436881.1	37	c.2028G>T	CCDS48059.1	.	.	.	.	.	.	.	.	.	.	.	11.32	1.603592	0.28534	.	.	ENSG00000232434	ENST00000436881	.	.	.	3.17	3.17	0.36434	.	.	.	.	.	T	0.40347	0.1113	L	0.31664	0.95	0.41330	D	0.987236	P	0.42941	0.794	B	0.39805	0.31	T	0.33650	-0.9860	8	0.33141	T	0.24	-13.9076	13.5	0.61449	0.0:0.0:1.0:0.0	.	676	C9J069	CI172_HUMAN	I	676	.	ENSP00000412388:M676I	M	+	3	0	C9orf172	138860715	1.000000	0.71417	1.000000	0.80357	0.613000	0.37349	6.266000	0.72540	1.600000	0.50102	0.164000	0.16699	ATG		0.692	C9orf172-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080482		3	48	1	0	1	1	1	3	48				
WDR83	84292	broad.mit.edu	37	19	12780860	12780860	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr19:12780860C>A	ENST00000418543.3	+	4	522	c.173C>A	c.(172-174)aCg>aAg	p.T58K	WDR83_ENST00000242796.4_Missense_Mutation_p.T58K|WDR83OS_ENST00000600694.1_5'Flank|WDR83OS_ENST00000222190.5_5'Flank|CTD-2192J16.24_ENST00000597961.1_5'Flank|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	58					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						CTTCGGGGGACGCTGCTGCGG	0.677																																						ENST00000418543.3																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(172-174)aCg>aAg		WD repeat domain 83							45.0	49.0	47.0					19																	12780860		2203	4300	6503	SO:0001583	missense	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12780860C>A	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.173C>A	19.37:g.12780860C>A	ENSP00000402653:p.Thr58Lys					WDR83_ENST00000242796.4_Missense_Mutation_p.T58K|WDR83OS_ENST00000596731.1_5'UTR	p.T58K	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN			4	522	+			58					B2RAF1|Q53FT6	Missense_Mutation	SNP	ENST00000418543.3	37	c.173C>A	CCDS12275.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763506	0.89932	.	.	ENSG00000123154	ENST00000418543;ENST00000242796	T;T	0.58060	0.36;0.36	5.3	3.12	0.35913	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.090966	0.85682	D	0.000000	T	0.27524	0.0676	N	0.04063	-0.285	0.53688	D	0.999976	P	0.48503	0.911	P	0.45538	0.484	T	0.25467	-1.0131	10	0.02654	T	1	.	10.1688	0.42897	0.0:0.7864:0.1373:0.0762	.	58	Q9BRX9	WDR83_HUMAN	K	58	ENSP00000402653:T58K;ENSP00000242796:T58K	ENSP00000242796:T58K	T	+	2	0	WDR83	12641860	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.231000	0.58639	0.700000	0.31782	-0.140000	0.14226	ACG		0.677	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		3	75	1	0	1	1	1	3	75				
SEC31B	25956	broad.mit.edu	37	10	102248628	102248628	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr10:102248628G>T	ENST00000370345.3	-	24	3372	c.3275C>A	c.(3274-3276)tCt>tAt	p.S1092Y		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1092					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTCAGTTGCAGACAGGGAGCA	0.577																																						ENST00000370345.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36						c.(3274-3276)tCt>tAt		SEC31 homolog B (S. cerevisiae)							96.0	93.0	94.0					10																	102248628		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102248628G>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3275C>A	10.37:g.102248628G>T	ENSP00000359370:p.Ser1092Tyr						p.S1092Y	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	24	3372	-		Colorectal(252;0.117)	1092					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.3275C>A	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558920	0.27827	.	.	ENSG00000075826	ENST00000370345	T	0.53640	0.61	4.92	3.98	0.46160	.	0.501251	0.22131	N	0.064185	T	0.58722	0.2142	M	0.71581	2.175	0.19775	N	0.999959	D;D	0.59767	0.986;0.976	P;P	0.62089	0.898;0.794	T	0.53099	-0.8486	10	0.72032	D	0.01	-5.3577	4.5124	0.11917	0.1781:0.2769:0.545:0.0	.	1091;1092	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	Y	1092	ENSP00000359370:S1092Y	ENSP00000359370:S1092Y	S	-	2	0	SEC31B	102238618	0.985000	0.35326	0.887000	0.34795	0.048000	0.14542	1.651000	0.37302	1.194000	0.43101	0.561000	0.74099	TCT		0.577	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		35	62	1	0	6.04917e-29	1	6.82141e-29	35	62				
TBC1D5	9779	broad.mit.edu	37	3	17279892	17279892	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr3:17279892G>A	ENST00000253692.7	-	17	3015	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	TBC1D5_ENST00000446818.2_Missense_Mutation_p.P451S|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P403S|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P451S	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	451						retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ATATTCAGGGGAGCACCTTTG	0.388																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(1351-1353)Ccc>Tcc		TBC1 domain family, member 5							41.0	42.0	41.0					3																	17279892		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17279892G>A	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1351C>T	3.37:g.17279892G>A	ENSP00000253692:p.Pro451Ser					TBC1D5_ENST00000429924.2_Missense_Mutation_p.P403S|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P451S|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P451S	p.P451S	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			17	3015	-			451					A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.1351C>T	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134527	0.56828	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.47869	1.44;1.44;1.37;0.83	5.89	5.89	0.94794	.	0.099558	0.64402	D	0.000001	T	0.44286	0.1286	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.22146	0.013;0.065;0.065;0.065	B;B;B;B	0.19391	0.003;0.018;0.025;0.025	T	0.20672	-1.0268	10	0.23891	T	0.37	-16.7309	18.4274	0.90613	0.0:0.0:1.0:0.0	.	403;451;451;451	C9J3F6;C9JP52;B9A6K1;Q92609	.;.;.;TBCD5_HUMAN	S	451;451;451;403	ENSP00000253692:P451S;ENSP00000398127:P451S;ENSP00000402935:P451S;ENSP00000411925:P403S	ENSP00000253692:P451S	P	-	1	0	TBC1D5	17254896	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.881000	0.87252	2.781000	0.95711	0.555000	0.69702	CCC		0.388	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		12	46	0	0	0	1	0	12	46				
TMEM132B	114795	broad.mit.edu	37	12	126138738	126138738	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr12:126138738G>A	ENST00000299308.3	+	9	2727	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	907						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTGCTCTGCGTCTTCTGTCT	0.522																																						ENST00000299308.3																			0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2719-2721)Gtc>Atc		transmembrane protein 132B							98.0	96.0	97.0					12																	126138738		2038	4218	6256	SO:0001583	missense	114795					integral to membrane		g.chr12:126138738G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2719G>A	12.37:g.126138738G>A	ENSP00000299308:p.Val907Ile					TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	p.V907I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2727	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		907					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2719G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720217	0.89205	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.21031	2.03;2.03	5.43	5.43	0.79202	.	0.107006	0.41294	N	0.000908	T	0.40372	0.1114	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.06991	-1.0796	10	0.45353	T	0.12	.	19.2594	0.93961	0.0:0.0:1.0:0.0	.	907	Q14DG7	T132B_HUMAN	I	907;419	ENSP00000299308:V907I;ENSP00000440436:V419I	ENSP00000299308:V907I	V	+	1	0	TMEM132B	124704691	1.000000	0.71417	0.985000	0.45067	0.895000	0.52256	7.748000	0.85085	2.543000	0.85770	0.655000	0.94253	GTC		0.522	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		26	57	0	0	0	1	0	26	57				
MOGAT3	346606	broad.mit.edu	37	7	100839218	100839218	+	3'UTR	SNP	C	C	T	rs371502014		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr7:100839218C>T	ENST00000223114.4	-	0	1201				MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000379423.3_Missense_Mutation_p.A278T	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3						glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CGAAAGGCCGCGGCCAGGCCT	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15813	0.0		0.0	False		,,,				2504	0.0					ENST00000379423.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(832-834)Gcg>Acg		monoacylglycerol O-acyltransferase 3		C		2,4404	4.2+/-10.8	0,2,2201	62.0	63.0	63.0			-1.2	0.0	7		63	3,8597	3.0+/-9.4	0,3,4297	no	utr-3	MOGAT3	NM_178176.2		0,5,6498	TT,TC,CC		0.0349,0.0454,0.0384			100839218	5,13001	2203	4300	6503	SO:0001624	3_prime_UTR_variant	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100839218C>T	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.*9G>A	7.37:g.100839218C>T						MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000223114.4_3'UTR	p.A278T			Q86VF5	MOGT3_HUMAN			6	892	-	Lung NSC(181;0.168)|all_lung(186;0.215)		0					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.832G>A	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	C	9.284	1.048981	0.19827	4.54E-4	3.49E-4	ENSG00000106384	ENST00000379423	T	0.31247	1.5	2.56	-1.19	0.09585	.	.	.	.	.	T	0.17066	0.0410	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31558	-0.9939	8	0.72032	D	0.01	.	0.3802	0.00394	0.4095:0.2306:0.1408:0.2192	.	278	Q86VF5-2	.	T	278	ENSP00000368734:A278T	ENSP00000368734:A278T	A	-	1	0	MOGAT3	100625938	0.009000	0.17119	0.000000	0.03702	0.003000	0.03518	0.920000	0.28705	-0.230000	0.09840	-1.222000	0.01597	GCG		0.627	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		32	83	0	0	0	1	0	32	83				
ROBO1	6091	broad.mit.edu	37	3	78708861	78708861	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr3:78708861T>G	ENST00000464233.1	-	17	2530	c.2417A>C	c.(2416-2418)cAa>cCa	p.Q806P	ROBO1_ENST00000495273.1_Missense_Mutation_p.Q770P|ROBO1_ENST00000467549.1_Missense_Mutation_p.Q770P|ROBO1_ENST00000436010.2_Missense_Mutation_p.Q767P	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	806	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CATTCCATTTTGAGTGTCTTC	0.433																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(2299-2301)cAa>cCa		roundabout, axon guidance receptor, homolog 1 (Drosophila)							47.0	42.0	44.0					3																	78708861		1816	4070	5886	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78708861T>G	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2417A>C	3.37:g.78708861T>G	ENSP00000420321:p.Gln806Pro					ROBO1_ENST00000467549.1_Missense_Mutation_p.Q770P|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q770P|ROBO1_ENST00000464233.1_Missense_Mutation_p.Q806P	p.Q767P			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	15	3297	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	806					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.2300A>C	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068643	0.76301	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.95	5.95	0.96441	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.053968	0.85682	D	0.000000	T	0.54398	0.1856	L	0.33624	1.015	0.50467	D	0.99987	D;B;P;B;B	0.54207	0.965;0.198;0.943;0.106;0.086	P;B;P;B;B	0.53649	0.731;0.363;0.659;0.236;0.248	T	0.50988	-0.8762	9	.	.	.	.	14.9763	0.71277	0.0:0.0:0.0:1.0	.	770;806;770;770;767	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	P	767;770;806;770;770;810	ENSP00000406043:Q767P;ENSP00000420321:Q806P;ENSP00000420637:Q770P;ENSP00000417992:Q770P	.	Q	-	2	0	ROBO1	78791551	1.000000	0.71417	0.944000	0.38274	0.956000	0.61745	4.873000	0.63057	2.279000	0.76181	0.402000	0.26972	CAA		0.433	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		6	7	0	0	0	1	0	6	7				
ACTL7B	10880	broad.mit.edu	37	9	111617150	111617150	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr9:111617150C>T	ENST00000374667.3	-	1	2089	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	354						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)	p.R354H(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCTCTGGAAGCGCTCGGGGAA	0.677																																						ENST00000374667.3																			2	Substitution - Missense(2)	p.R354H(2)	large_intestine(2)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1060-1062)cGc>cAc		actin-like 7B							30.0	36.0	34.0					9																	111617150		2202	4299	6501	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617150C>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.1061G>A	9.37:g.111617150C>T	ENSP00000363799:p.Arg354His						p.R354H	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	2089	-			354					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.1061G>A	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740686	0.89573	.	.	ENSG00000148156	ENST00000374667	D	0.99353	-5.77	5.24	5.24	0.73138	.	0.000000	0.39834	N	0.001248	D	0.99597	0.9854	H	0.95745	3.715	0.51482	D	0.999925	D	0.89917	1.0	D	0.91635	0.999	D	0.97842	1.0269	10	0.87932	D	0	.	16.3291	0.83001	0.0:1.0:0.0:0.0	.	354	Q9Y614	ACL7B_HUMAN	H	354	ENSP00000363799:R354H	ENSP00000363799:R354H	R	-	2	0	ACTL7B	110656971	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.961000	0.63681	2.449000	0.82847	0.561000	0.74099	CGC		0.677	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		16	40	0	0	0	1	0	16	40				
UPP1	7378	broad.mit.edu	37	7	48141449	48141449	+	Missense_Mutation	SNP	G	G	A	rs201808602		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr7:48141449G>A	ENST00000331803.4	+	6	814	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	UPP1_ENST00000395564.4_Missense_Mutation_p.R64Q|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.R64Q|UPP1_ENST00000482015.1_3'UTR			Q16831	UPP1_HUMAN	uridine phosphorylase 1	64					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	AGCCCCTCCCGGATGAAAGCC	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		16600	0.0		0.001	False		,,,				2504	0.0					ENST00000331803.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(190-192)cGg>cAg		uridine phosphorylase 1							142.0	124.0	130.0					7																	48141449		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48141449G>A	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.191G>A	7.37:g.48141449G>A	ENSP00000330032:p.Arg64Gln					UPP1_ENST00000395564.4_Missense_Mutation_p.R64Q|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.R64Q	p.R64Q			Q16831	UPP1_HUMAN			6	814	+			64					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.191G>A	CCDS5507.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.629973	0.96671	.	.	ENSG00000183696	ENST00000416681;ENST00000331803;ENST00000341253;ENST00000395564;ENST00000436673	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	5.62	5.62	0.85841	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	D	0.95856	0.8651	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96404	0.9299	10	0.87932	D	0	-26.4038	18.6492	0.91423	0.0:0.0:1.0:0.0	.	64;64	B4DND0;Q16831	.;UPP1_HUMAN	Q	64	ENSP00000405209:R64Q;ENSP00000330032:R64Q;ENSP00000342878:R64Q;ENSP00000378931:R64Q;ENSP00000390118:R64Q	ENSP00000330032:R64Q	R	+	2	0	UPP1	48107974	1.000000	0.71417	0.982000	0.44146	0.937000	0.57800	9.520000	0.98027	2.645000	0.89757	0.655000	0.94253	CGG		0.567	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		25	73	0	0	0	1	0	25	73				
LAMC2	3918	broad.mit.edu	37	1	183207488	183207488	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr1:183207488C>T	ENST00000264144.4	+	19	2866	c.2801C>T	c.(2800-2802)gCa>gTa	p.A934V	LAMC2_ENST00000493293.1_Missense_Mutation_p.A934V	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	934	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AAAAGCAGAGCACAAGAAGCA	0.418																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2800-2802)gCa>gTa		laminin, gamma 2							149.0	138.0	141.0					1																	183207488		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183207488C>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2801C>T	1.37:g.183207488C>T	ENSP00000264144:p.Ala934Val					LAMC2_ENST00000493293.1_Missense_Mutation_p.A934V	p.A934V	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			19	2866	+			934			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.2801C>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960847	0.92791	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.25579	1.9;1.79	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.54581	0.1867	M	0.83953	2.67	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.54728	-0.8250	10	0.37606	T	0.19	.	16.847	0.85983	0.0:1.0:0.0:0.0	.	934;934;934	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	V	934	ENSP00000432063:A934V;ENSP00000264144:A934V	ENSP00000264144:A934V	A	+	2	0	LAMC2	181474111	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.168000	0.64978	2.558000	0.86282	0.655000	0.94253	GCA		0.418	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		37	109	0	0	0	1	0	37	109				
MYPN	84665	broad.mit.edu	37	10	69881296	69881296	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr10:69881296G>T	ENST00000358913.5	+	2	589	c.101G>T	c.(100-102)cGa>cTa	p.R34L	MYPN_ENST00000373675.3_Missense_Mutation_p.R34L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.R34L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	34	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAGAGGAGTCGAGCGGAGCCC	0.522																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(100-102)cGa>cTa		myopalladin							60.0	57.0	58.0					10																	69881296		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69881296G>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.101G>T	10.37:g.69881296G>T	ENSP00000351790:p.Arg34Leu					MYPN_ENST00000540630.1_Missense_Mutation_p.R34L|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Missense_Mutation_p.R34L	p.R34L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			2	589	+			34			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.101G>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416646	0.42918	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.62105	0.43;0.41;0.05	6.03	5.11	0.69529	.	0.131761	0.51477	N	0.000088	T	0.54870	0.1885	L	0.45581	1.43	0.48452	D	0.999655	B;B	0.10296	0.003;0.002	B;B	0.15052	0.012;0.005	T	0.49799	-0.8901	9	.	.	.	.	14.1802	0.65568	0.0:0.0:0.7278:0.2722	.	34;34	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	L	34	ENSP00000351790:R34L;ENSP00000441668:R34L;ENSP00000362779:R34L	.	R	+	2	0	MYPN	69551302	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.330000	0.52068	1.506000	0.48736	0.655000	0.94253	CGA		0.522	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		3	77	1	0	0.115264	1	0.119784	3	77				
TSPAN4	7106	broad.mit.edu	37	11	864455	864455	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr11:864455C>G	ENST00000397404.1	+	5	533	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(274-276)Ctg>Gtg		tetraspanin 4							98.0	95.0	96.0					11																	864455		2203	4299	6502	SO:0001583	missense	0				protein complex assembly	integral to plasma membrane		g.chr11:864455C>G	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.274C>G	11.37:g.864455C>G	ENSP00000380553:p.Leu92Val					TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V	p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	533	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	c.274C>G	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	7.339	0.620549	0.14193	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531;ENST00000527644	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	3.04	1.98	0.26296	.	0.388801	0.23310	N	0.049564	T	0.54431	0.1858	N	0.04508	-0.205	0.32506	N	0.538191	B	0.12013	0.005	B	0.15870	0.014	T	0.53493	-0.8431	10	0.17369	T	0.5	.	6.829	0.23898	0.4405:0.5595:0.0:0.0	.	92	O14817	TSN4_HUMAN	V	92;92;28;92;28;92;92;28;92;28;92;111;92	ENSP00000380552:L92V;ENSP00000380558:L92V;ENSP00000380551:L28V;ENSP00000380555:L92V;ENSP00000433980:L28V;ENSP00000380554:L92V;ENSP00000386513:L92V;ENSP00000431943:L28V;ENSP00000380553:L92V;ENSP00000434818:L28V;ENSP00000324304:L92V;ENSP00000386899:L111V;ENSP00000436260:L92V	ENSP00000324304:L92V	L	+	1	2	TSPAN4	854455	0.162000	0.22906	1.000000	0.80357	0.819000	0.46315	0.131000	0.15870	1.557000	0.49525	0.313000	0.20887	CTG		0.672	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			4	180	0	0	0	1	0	4	180				
CIART	148523	broad.mit.edu	37	1	150259209	150259209	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr1:150259209G>A	ENST00000290363.5	+	5	1450	c.1001G>A	c.(1000-1002)cGt>cAt	p.R334H	C1orf51_ENST00000369094.1_Missense_Mutation_p.R246H|C1orf51_ENST00000369095.1_Missense_Mutation_p.R334H	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		334					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGGTCCTCGTTGCTACAGT	0.552																																						ENST00000290363.5																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(1000-1002)cGt>cAt		chromosome 1 open reading frame 51							157.0	137.0	144.0					1																	150259209		2203	4300	6503	SO:0001583	missense	148523							g.chr1:150259209G>A																												ENST00000290363.5:c.1001G>A	1.37:g.150259209G>A	ENSP00000290363:p.Arg334His					C1orf51_ENST00000369095.1_Missense_Mutation_p.R334H|C1orf51_ENST00000369094.1_Missense_Mutation_p.R246H	p.R334H	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	1450	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		334					B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	c.1001G>A	CCDS949.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.367987	0.24771	.	.	ENSG00000159208	ENST00000369095;ENST00000369094;ENST00000290363	.	.	.	5.36	1.18	0.20946	.	0.530420	0.19472	N	0.113436	T	0.04952	0.0133	N	0.11560	0.145	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.42241	-0.9463	8	.	.	.	-16.571	5.0626	0.14564	0.2733:0.1481:0.5785:0.0	.	334	Q8N365	CA051_HUMAN	H	334;246;334	.	.	R	+	2	0	C1orf51	148525833	0.000000	0.05858	0.024000	0.17045	0.893000	0.52053	0.316000	0.19469	0.061000	0.16311	0.561000	0.74099	CGT		0.552	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			47	122	0	0	0	1	0	47	122				
TMEM102	284114	broad.mit.edu	37	17	7340279	7340279	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr17:7340279G>T	ENST00000323206.1	+	3	1254	c.981G>T	c.(979-981)tgG>tgT	p.W327C	FGF11_ENST00000293829.4_5'Flank|RP11-104H15.8_ENST00000576615.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.W327C|RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000572907.1_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_5'Flank	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	327					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TGGCGGGCTGGCCCGAGGGGG	0.726																																						ENST00000323206.1																			0				kidney(1)|lung(3)|skin(1)	5						c.(979-981)tgG>tgT		transmembrane protein 102							7.0	9.0	8.0					17																	7340279		2039	4027	6066	SO:0001583	missense	284114				regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding	g.chr17:7340279G>T	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.981G>T	17.37:g.7340279G>T	ENSP00000315387:p.Trp327Cys					RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.W327C|RP11-104H15.7_ENST00000575310.1_RNA	p.W327C	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN			3	1254	+		Prostate(122;0.173)	327					D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	37	c.981G>T	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937682	0.73557	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.22743	1.94;1.94	5.18	5.18	0.71444	.	0.000000	0.47093	D	0.000249	T	0.41789	0.1174	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.24584	-1.0156	10	0.87932	D	0	-8.2316	14.1772	0.65549	0.0:0.0:1.0:0.0	.	327	Q8N9M5	TM102_HUMAN	C	327	ENSP00000315387:W327C;ENSP00000379815:W327C	ENSP00000315387:W327C	W	+	3	0	TMEM102	7281003	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	6.027000	0.70881	2.412000	0.81896	0.462000	0.41574	TGG		0.726	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518		3	18	1	0	0.000602214	1	0.000638347	3	18				
ATP8B2	57198	broad.mit.edu	37	1	154303605	154303605	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr1:154303605G>T	ENST00000368489.3	+	5	385	c.385G>T	c.(385-387)Gat>Tat	p.D129Y	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.D96Y|ATP8B2_ENST00000341822.2_Missense_Mutation_p.D115Y	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	115					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCTGTTAAAGATGCCACTGA	0.488																																						ENST00000368489.3																		IL6R/ATP8B2(2)	0				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(385-387)Gat>Tat		ATPase, aminophospholipid transporter, class I, type 8B, member 2							161.0	132.0	141.0					1																	154303605		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154303605G>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.385G>T	1.37:g.154303605G>T	ENSP00000357475:p.Asp129Tyr					ATP8B2_ENST00000341822.2_Missense_Mutation_p.D115Y|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.D96Y	p.D129Y	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	385	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		115					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.385G>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441649	0.83993	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;D;D	0.84589	-1.87;-1.87;-1.87	4.66	4.66	0.58398	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	H	0.98542	4.26	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97000	0.9728	10	0.87932	D	0	.	17.0785	0.86592	0.0:0.0:1.0:0.0	.	115;129;96	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	Y	96;129;115	ENSP00000357472:D96Y;ENSP00000357475:D129Y;ENSP00000340448:D115Y	ENSP00000340448:D115Y	D	+	1	0	ATP8B2	152570229	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.573000	0.86826	0.561000	0.74099	GAT		0.488	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		21	40	1	0	3.5997e-14	1	3.97467e-14	21	40				
GAR1	54433	broad.mit.edu	37	4	110737454	110737454	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr4:110737454G>A	ENST00000226796.6	+	2	398	c.134G>A	c.(133-135)gGc>gAc	p.G45D	RP11-602N24.3_ENST00000609440.1_lincRNA|GAR1_ENST00000394631.3_Missense_Mutation_p.G45D	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	45	RGG-box 1.				cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|pseudouridine synthesis (GO:0001522)|rRNA processing (GO:0006364)	box H/ACA snoRNP complex (GO:0031429)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cation channel activity (GO:0005261)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						agaggcggcggcaggggaggA	0.607																																						ENST00000226796.6																			0				kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						c.(133-135)gGc>gAc		GAR1 ribonucleoprotein							31.0	39.0	37.0					4																	110737454		2202	4300	6502	SO:0001583	missense	54433				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding	g.chr4:110737454G>A	AJ276003	CCDS34050.1	4q	2013-07-31	2013-07-31	2008-10-13	ENSG00000109534	ENSG00000109534			14264	protein-coding gene	gene with protein product		606468	"""nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs)"", ""GAR1 ribonucleoprotein homolog (yeast)"""	NOLA1		10757788	Standard	XM_005263069		Approved		uc003hzu.3	Q9NY12	OTTHUMG00000161108	ENST00000226796.6:c.134G>A	4.37:g.110737454G>A	ENSP00000226796:p.Gly45Asp					GAR1_ENST00000394631.3_Missense_Mutation_p.G45D	p.G45D	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN			2	398	+			45			RGG-box 1.		Q5MJQ2	Missense_Mutation	SNP	ENST00000226796.6	37	c.134G>A	CCDS34050.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829216	0.71258	.	.	ENSG00000109534	ENST00000394631;ENST00000226796	.	.	.	3.99	3.99	0.46301	.	0.058323	0.64402	D	0.000002	T	0.53706	0.1813	N	0.08118	0	0.47547	D	0.999456	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.65623	-0.6123	9	0.66056	D	0.02	.	16.2214	0.82262	0.0:0.0:1.0:0.0	.	45;45	Q9NY12-2;Q9NY12	.;GAR1_HUMAN	D	45	.	ENSP00000226796:G45D	G	+	2	0	GAR1	110956903	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.243000	0.72384	2.209000	0.71365	0.655000	0.94253	GGC		0.607	GAR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363810.2			4	57	0	0	0	1	0	4	57				
NPIPB5	100132247	broad.mit.edu	37	16	22545865	22545865	+	Missense_Mutation	SNP	G	G	C	rs202011711	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr16:22545865G>C	ENST00000517539.1	+	8	1636	c.1561G>C	c.(1561-1563)Gcc>Ccc	p.A521P	NPIPB5_ENST00000424340.1_Missense_Mutation_p.A521P|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	521	Pro-rich.					integral component of membrane (GO:0016021)											TCAGCTCACTGCCCTTCCACC	0.567																																						ENST00000424340.1																			0											c.(1561-1563)Gcc>Ccc		nuclear pore complex interacting protein family, member B5							15.0	10.0	11.0					16																	22545865		690	1587	2277	SO:0001583	missense	100132247							g.chr16:22545865G>C		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.1561G>C	16.37:g.22545865G>C	ENSP00000430633:p.Ala521Pro					NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P	p.A521P	NM_001135865.1	NP_001129337.1					7	1840	+								B4DK13	Missense_Mutation	SNP	ENST00000517539.1	37	c.1561G>C	CCDS45443.1	.	.	.	.	.	.	.	.	.	.	.	0.575	-0.839534	0.02692	.	.	ENSG00000243716	ENST00000415833;ENST00000424340;ENST00000342168;ENST00000503072;ENST00000517539;ENST00000528249;ENST00000344223	T;T;T;T	0.18338	2.32;2.22;2.22;2.32	.	.	.	.	.	.	.	.	T	0.03136	0.0092	N	0.01352	-0.895	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.28618	-1.0038	7	0.08381	T	0.77	.	.	.	.	.	521;521	F5GWX0;A8MRT5	.;K220L_HUMAN	P	521;521;521;399;521;521;502	ENSP00000445388:A521P;ENSP00000440703:A521P;ENSP00000430633:A521P;ENSP00000431553:A521P	ENSP00000441680:A521P	A	+	1	0	RP11-368J21.2	22453366	.	.	0.003000	0.11579	0.003000	0.03518	.	.	-2.321000	0.00641	-2.362000	0.00238	GCC		0.567	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374343.2	NM_001135865		6	580	0	0	0	1	0	6	580				
COASY	80347	broad.mit.edu	37	17	40717505	40717505	+	Silent	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr17:40717505G>T	ENST00000393818.2	+	7	1860	c.1404G>T	c.(1402-1404)gtG>gtT	p.V468V	MLX_ENST00000435881.2_5'Flank|COASY_ENST00000420359.1_Silent_p.V468V|COASY_ENST00000590958.1_Silent_p.V497V|MLX_ENST00000346833.4_5'Flank|COASY_ENST00000421097.2_Silent_p.V468V|COASY_ENST00000449624.1_Silent_p.V173V|MLX_ENST00000246912.4_5'Flank	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	468	DPCK.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GTGTGTGTGTGATTGATGCCG	0.612																																						ENST00000393818.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21						c.(1402-1404)gtG>gtT		CoA synthase							151.0	123.0	133.0					17																	40717505		2203	4300	6503	SO:0001819	synonymous_variant	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40717505G>T	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1404G>T	17.37:g.40717505G>T						COASY_ENST00000590958.1_Silent_p.V497V|COASY_ENST00000421097.2_Silent_p.V468V|COASY_ENST00000420359.1_Silent_p.V468V|COASY_ENST00000449624.1_Silent_p.V173V	p.V468V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	7	1860	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	468			DPCK.		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	ENST00000393818.2	37	c.1404G>T	CCDS11429.1																																																																																				0.612	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		17	49	1	0	1.33834e-09	1	1.44759e-09	17	49				
ABCA13	154664	broad.mit.edu	37	7	48352729	48352729	+	Silent	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr7:48352729C>T	ENST00000435803.1	+	25	9606	c.9582C>T	c.(9580-9582)agC>agT	p.S3194S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3194					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S3139S(1)|p.S3194S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCAGCCTCAGCGCCTTGCTTG	0.433																																						ENST00000435803.1																			2	Substitution - coding silent(2)	p.S3139S(1)|p.S3194S(1)	large_intestine(2)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(9580-9582)agC>agT		ATP-binding cassette, sub-family A (ABC1), member 13							66.0	65.0	65.0					7																	48352729		1881	4107	5988	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48352729C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.9582C>T	7.37:g.48352729C>T							p.S3194S	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			25	9606	+			3194					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.9582C>T	CCDS47584.1																																																																																				0.433	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		10	18	0	0	0	1	0	10	18				
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.450	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		7	60						7	60	---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	CTGCCGCTG	-	rs147889095	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:226924876_226924884delCTGCCGCTG	ENST00000272117.3	-	1	275_283	c.276_284delCAGCGGCAG	c.(274-285)agcagcggcagt>agt	p.92_95SSGS>S	ITPKB_ENST00000429204.1_In_Frame_Del_p.92_95SSGS>S|ITPKB_ENST00000366784.1_In_Frame_Del_p.92_95SSGS>S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	92					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746														1412	0.281949	0.2428	0.317	5008	,	,		9854	0.2659		0.3141	False		,,,				2504	0.2935				Colon(84;110 1851 5306 33547)	ENST00000429204.1																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(274-285)agt>ag		inositol-trisphosphate 3-kinase B				530,2426		156,218,1104						0.6	1.0		dbSNP_120	7	1381,4925		379,623,2151	no	coding	ITPKB	NM_002221.3		535,841,3255	A1A1,A1R,RR		21.8998,17.9296,20.6327				1911,7351				SO:0001651	inframe_deletion	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924876_226924884delCTGCCGCTG	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.276_284delCAGCGGCAG	1.37:g.226924885_226924893delCTGCCGCTG	ENSP00000272117:p.Ser92_Gly94del					ITPKB_ENST00000272117.3_In_Frame_Del_p.SSGS92del|ITPKB_ENST00000366784.1_In_Frame_Del_p.SSGS92del	p.SSGS92del	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	603_611	-		Prostate(94;0.0773)	92					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	In_Frame_Del	DEL	ENST00000272117.3	37	c.276_284delCAGCGGCAG	CCDS1555.1																																																																																				0.746	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		3	6						3	6	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)cat>ca		ELKS/RAB6-interacting/CAST family member 2																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del						p.HH931del	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036_3038	-			931			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		18	441						18	441	---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5352791	5352793	+	In_Frame_Del	DEL	GCT	GCT	-	rs191028877|rs374450776	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:5352791_5352793delGCT	ENST00000430969.1	-	27	8077_8079	c.7729_7731delAGC	c.(7729-7731)agcdel	p.S2577del	TNRC18_ENST00000399537.4_In_Frame_Del_p.S2577del	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2577	Ser-rich.						chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCTCCGAgccgctgctgctgctg	0.69																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7729-7731)del		trinucleotide repeat containing 18				14,42,1342		6,0,2,11,20,660						0.5	0.2			6	46,100,3046		15,0,16,25,50,1490	no	codingComplex	TNRC18	NM_001080495.2		21,0,18,36,70,2150	A1A1,A1A2,A1R,A2A2,A2R,RR		4.5739,4.0057,4.4009				60,142,4388				SO:0001651	inframe_deletion	84629						DNA binding	g.chr7:5352791_5352793delGCT	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7729_7731delAGC	7.37:g.5352800_5352802delGCT	ENSP00000395538:p.Ser2577del					TNRC18_ENST00000430969.1_In_Frame_Del_p.S2577del	p.S2577del			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	8077_8079	-		Ovarian(82;0.142)	2577			Ser-rich.		A8MX41|Q96JH1|Q96K91	In_Frame_Del	DEL	ENST00000430969.1	37	c.7729_7731delAGC	CCDS47534.1																																																																																				0.690	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140453122	140453133	+	In_Frame_Del	DEL	TCCATCGAGATT	TCCATCGAGATT	-	rs397516897|rs104886015|rs397507484|rs121913365|rs121913372|rs372569965|rs191566526|rs121913226		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:140453122_140453133delTCCATCGAGATT	ENST00000288602.6	-	15	1862_1873	c.1802_1813delAATCTCGATGGA	c.(1801-1815)aaatctcgatggagt>agt	p.KSRW601del		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	601	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		K -> E (in CRC). {ECO:0000269|PubMed:12198537}.|K -> Q (in CFC1). {ECO:0000269|PubMed:19206169}.		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.K601N(10)|p.R603*(4)|p.S605G(3)|p.T599_R603>I(2)|p.W604del(2)|p.S605F(2)|p.W604G(2)|p.W604R(1)|p.K601I(1)|p.K601K(1)|p.K601del(1)|p.S602S(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.W604*(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)	TGGGACCCACTCCATCGAGATTTCACTGTAGC	0.382	K601N(U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	K601N(U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	34	Substitution - Missense(19)|Substitution - Nonsense(5)|Complex - deletion inframe(5)|Deletion - In frame(3)|Substitution - coding silent(2)	p.K601N(10)|p.R603*(4)|p.S605G(3)|p.T599_R603>I(2)|p.W604del(2)|p.S605F(2)|p.W604G(2)|p.W604R(1)|p.K601I(1)|p.K601K(1)|p.K601del(1)|p.S602S(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.W604*(1)	skin(13)|haematopoietic_and_lymphoid_tissue(5)|thyroid(4)|endometrium(4)|large_intestine(2)|small_intestine(2)|lung(2)|ovary(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						c.(1801-1815)agt>a		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)																																			SO:0001651	inframe_deletion	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.chr7:140453122_140453133delTCCATCGAGATT	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.1802_1813delAATCTCGATGGA	7.37:g.140453122_140453133delTCCATCGAGATT	ENSP00000288602:p.Lys601_Trp604del						p.KSRWS601del	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1862_1873	-	Melanoma(164;0.00956)		601		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	In_Frame_Del	DEL	ENST00000288602.6	37	c.1802_1813delAATCTCGATGGA	CCDS5863.1																																																																																				0.382	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		8	93						8	93	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:7578222_7578223delTC	ENST00000269305.4	-	6	815_816	c.626_627delGA	c.(625-627)agafs	p.R209fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	209	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAAAGTGTTTCTGTCATCCAA	0.535		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		84	Deletion - Frameshift(51)|Substitution - Missense(14)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(1)	biliary_tract(11)|breast(9)|upper_aerodigestive_tract(8)|oesophagus(7)|large_intestine(6)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(5)|prostate(5)|lung(4)|bone(4)|stomach(3)|soft_tissue(3)|ovary(3)|pancreas(3)|salivary_gland(2)|skin(2)|cervix(1)|urinary_tract(1)|liver(1)|thyroid(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CD962734	TP53	D		c.(625-627)afs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578222_7578223delTC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.626_627delGA	17.37:g.7578222_7578223delTC	ENSP00000269305:p.Arg209fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs	p.R209fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	758_759	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	209		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.626_627delGA	CCDS11118.1																																																																																				0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		40	42						40	42	---	---	---	---
BAHCC1	57597	broad.mit.edu	37	17	79428907	79428909	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:79428907_79428909delCAG	ENST00000307745.7	+	30	7218_7220	c.7218_7220delCAG	c.(7216-7221)cccagc>ccc	p.S2410del	RP11-1055B8.8_ENST00000572590.1_RNA																							GCTCAGGCCCCAGCAGCAGCAGC	0.69																																						ENST00000307745.7																			0											c.(7216-7221)ccc>cc						0,38,3970		0,0,0,3,32,1969						3.0	0.2			9	13,70,7915		0,0,13,6,58,3922	no	codingComplex	BAHCC1	NM_001080519.2		0,0,13,9,90,5891	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0378,0.9481,1.0078				13,108,11885				SO:0001651	inframe_deletion	0							g.chr17:79428907_79428909delCAG																												ENST00000307745.7:c.7218_7220delCAG	17.37:g.79428916_79428918delCAG	ENSP00000303486:p.Ser2410del					RP11-1055B8.8_ENST00000572590.1_RNA	p.PS2406del							30	7218_7220	+									In_Frame_Del	DEL	ENST00000307745.7	37	c.7218_7220delCAG																																																																																					0.690	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				2	4						2	4	---	---	---	---
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr1:26349533_26349535delCCT	ENST00000374280.3	+	1	1263_1265	c.396_398delCCT	c.(394-399)tgcctc>tgc	p.L137del		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	137					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(394-399)tgc>tg		exostosin-like glycosyltransferase 1																																				SO:0001651	inframe_deletion	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349533_26349535delCCT	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.396_398delCCT	1.37:g.26349542_26349544delCCT	ENSP00000363398:p.Leu137del						p.CL132del	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1263_1265	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	132					Q6GSC1	In_Frame_Del	DEL	ENST00000374280.3	37	c.396_398delCCT	CCDS271.1																																																																																				0.606	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		7	75						7	75	---	---	---	---
RP5-884C9.2	0	broad.mit.edu	37	1	38562824	38562825	+	lincRNA	DEL	AG	AG	-	rs373568877		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr1:38562824_38562825delAG	ENST00000432922.1	+	0	301																											ccacagaaacagagagagagag	0.5																																						ENST00000432922.1																			0																																																			0							g.chr1:38562824_38562825delAG																													1.37:g.38562834_38562835delAG														0	301	+									RNA	DEL	ENST00000432922.1	37																																																																																						0.500	RP5-884C9.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000001201.1			2	4						2	4	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1388467	1388468	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr4:1388467_1388468delCA	ENST00000324803.4	+	1	3128_3129	c.168_169delCA	c.(166-171)ctcacafs	p.T57fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	57					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.644																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(166-171)ctcafs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1388467_1388468delCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.168_169delCA	4.37:g.1388469_1388470delCA	ENSP00000323978:p.Thr57fs						p.LT56fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3128_3129	+			56					Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	c.168_169delCA	CCDS3349.1																																																																																				0.644	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		8	1017						8	1017	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs371932459|rs144931984|rs149686515		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		TAAATGaaaataaaaaaataaa	0.302																																						ENST00000546471.1																			0																																																			0							g.chr16:21817398_21817399insA			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817405_21817405dupA														0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.302	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		2	4						2	4	---	---	---	---
BAHCC1	57597	broad.mit.edu	37	17	79428907	79428909	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr17:79428907_79428909delCAG	ENST00000307745.7	+	30	7218_7220	c.7218_7220delCAG	c.(7216-7221)cccagc>ccc	p.S2410del	RP11-1055B8.8_ENST00000572590.1_RNA																							GCTCAGGCCCCAGCAGCAGCAGC	0.69																																						ENST00000307745.7																			0											c.(7216-7221)ccc>cc						0,38,3970		0,0,0,3,32,1969						3.0	0.2			9	13,70,7915		0,0,13,6,58,3922	no	codingComplex	BAHCC1	NM_001080519.2		0,0,13,9,90,5891	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0378,0.9481,1.0078				13,108,11885				SO:0001651	inframe_deletion	0							g.chr17:79428907_79428909delCAG																												ENST00000307745.7:c.7218_7220delCAG	17.37:g.79428916_79428918delCAG	ENSP00000303486:p.Ser2410del					RP11-1055B8.8_ENST00000572590.1_RNA	p.PS2406del							30	7218_7220	+									In_Frame_Del	DEL	ENST00000307745.7	37	c.7218_7220delCAG																																																																																					0.690	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				2	4						2	4	---	---	---	---
LOC63930	63930	broad.mit.edu	37	20	61659432	61659433	+	lincRNA	INS	-	-	G	rs140131983|rs11482182		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr20:61659432_61659433insG	ENST00000607802.1	+	0	91					NR_033370.1																						accggtggggaggggccggtgg	0.723																																						ENST00000607802.1																			0																																																			0							g.chr20:61659432_61659433insG																													20.37:g.61659436_61659436dupG								NR_033370.1						0	91	+									RNA	INS	ENST00000607802.1	37																																																																																						0.723	RP11-305P22.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470475.1			3	5						3	5	---	---	---	---
