#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
PLXDC1	57125	broad.mit.edu	37	17	37264406	37264406	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:37264406C>T	ENST00000315392.4	-	5	773	c.562G>A	c.(562-564)Gac>Aac	p.D188N	PLXDC1_ENST00000444911.2_Missense_Mutation_p.D148N|PLXDC1_ENST00000394316.2_Missense_Mutation_p.D188N|PLXDC1_ENST00000539608.1_Missense_Mutation_p.D115N|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	188					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)			kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGAGTTGTCGGAGTAGCCA	0.522																																						ENST00000315392.4																			0				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(562-564)Gac>Aac		plexin domain containing 1							140.0	139.0	139.0					17																	37264406		2203	4300	6503	SO:0001583	missense	57125				angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		g.chr17:37264406C>T	AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.562G>A	17.37:g.37264406C>T	ENSP00000323927:p.Asp188Asn					PLXDC1_ENST00000539608.1_Missense_Mutation_p.D115N|PLXDC1_ENST00000444911.2_Missense_Mutation_p.D148N|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Missense_Mutation_p.D188N	p.D188N	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN			5	773	-			188					B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Missense_Mutation	SNP	ENST00000315392.4	37	c.562G>A	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	C	7.316	0.615970	0.14129	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877;ENST00000415163	D;D;D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52;-1.52;-1.52	5.7	1.22	0.21188	.	0.687444	0.14876	N	0.293271	T	0.54902	0.1887	N	0.05383	-0.06	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.38090	-0.9677	10	0.08837	T	0.75	-25.9604	5.8768	0.18834	0.0:0.3609:0.3785:0.2606	.	188	Q8IUK5	PXDC1_HUMAN	N	188;115;115;148;188;115;115	ENSP00000323927:D188N;ENSP00000441881:D115N;ENSP00000409687:D148N;ENSP00000377851:D188N;ENSP00000393227:D115N;ENSP00000416819:D115N	ENSP00000323927:D188N	D	-	1	0	PLXDC1	34517932	0.257000	0.24022	0.358000	0.25811	0.113000	0.19764	1.276000	0.33156	0.326000	0.23384	-0.137000	0.14449	GAC		0.522	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2	NM_020405		17	161	0	0	0	1	0	17	161				
PLIN3	10226	broad.mit.edu	37	19	4859938	4859938	+	Silent	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:4859938G>A	ENST00000221957.4	-	3	341	c.165C>T	c.(163-165)caC>caT	p.H55H	PLIN3_ENST00000592528.1_Silent_p.H55H|PLIN3_ENST00000585479.1_Silent_p.H55H	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	55					vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|membrane (GO:0016020)				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CAGTCTTGATGTGCGGGTAGC	0.637																																						ENST00000221957.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9						c.(163-165)caC>caT		perilipin 3	Galsulfase(DB01279)|Idursulfase(DB01271)						77.0	65.0	69.0					19																	4859938		2203	4300	6503	SO:0001819	synonymous_variant	10226				vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding	g.chr19:4859938G>A	AF051314	CCDS12137.1, CCDS59337.1, CCDS59338.1	19p13.3	2009-08-12	2009-08-12	2009-08-12		ENSG00000105355		"""Perilipins"""	16893	protein-coding gene	gene with protein product	"""cargo selection protein (mannose 6 phosphate receptor binding protein)"", ""placental protein 17"", ""MPR-BINDING PROTEIN, 47-KD"""	602702	"""mannose-6-phosphate receptor binding protein 1"""	M6PRBP1		9590177, 6856484, 19638644	Standard	NM_005817		Approved	TIP47, PP17	uc002mbj.2	O60664		ENST00000221957.4:c.165C>T	19.37:g.4859938G>A						PLIN3_ENST00000592528.1_Silent_p.H55H|PLIN3_ENST00000585479.1_Silent_p.H55H	p.H55H	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN			3	341	-			55					A8K4Y9|K7EQF4|Q53G77|Q9BS03|Q9UBD7|Q9UP92	Silent	SNP	ENST00000221957.4	37	c.165C>T	CCDS12137.1																																																																																				0.637	PLIN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450436.1	NM_005817		8	16	0	0	0	1	0	8	16				
C11orf63	79864	broad.mit.edu	37	11	122805248	122805248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:122805248C>T	ENST00000531316.1	+	4	1191	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	C11orf63_ENST00000227349.2_Nonsense_Mutation_p.R367*			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	367					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCTCAAGATTCGAAAGCAGTG	0.468																																						ENST00000227349.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(1099-1101)Cga>Tga		chromosome 11 open reading frame 63							79.0	66.0	70.0					11																	122805248		2202	4299	6501	SO:0001587	stop_gained	79864							g.chr11:122805248C>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1099C>T	11.37:g.122805248C>T	ENSP00000431669:p.Arg367*					C11orf63_ENST00000531316.1_Nonsense_Mutation_p.R367*	p.R367*	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	5	1396	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	367					A8K6G0|Q96GB5|Q9H5D6	Nonsense_Mutation	SNP	ENST00000531316.1	37	c.1099C>T	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310713	0.95629	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	.	.	.	5.46	1.33	0.21861	.	0.623834	0.14199	N	0.334834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5308	2.3691	0.04326	0.1404:0.3877:0.309:0.1628	.	.	.	.	X	367	.	ENSP00000227349:R367X	R	+	1	2	C11orf63	122310458	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.700000	0.25601	-0.012000	0.14223	-0.302000	0.09304	CGA		0.468	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		9	28	0	0	0	1	0	9	28				
KYNU	8942	broad.mit.edu	37	2	143798178	143798178	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr2:143798178C>T	ENST00000264170.4	+	13	1481	c.1223C>T	c.(1222-1224)tCt>tTt	p.S408F	KYNU_ENST00000409512.1_Missense_Mutation_p.S408F	NM_003937.2	NP_003928.1			kynureninase											large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		ATAACATTTTCTGTTCCAAAC	0.408																																						ENST00000264170.4																			0				large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36						c.(1222-1224)tCt>tTt		kynureninase	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						56.0	52.0	54.0					2																	143798178		2203	4300	6503	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143798178C>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.1223C>T	2.37:g.143798178C>T	ENSP00000264170:p.Ser408Phe					KYNU_ENST00000409512.1_Missense_Mutation_p.S408F	p.S408F	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	13	1481	+			408						Missense_Mutation	SNP	ENST00000264170.4	37	c.1223C>T	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.704761	0.48412	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	T;T	0.55413	0.52;0.52	5.54	5.54	0.83059	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.318455	0.34603	N	0.003834	T	0.48502	0.1503	L	0.44542	1.39	0.80722	D	1	P	0.36438	0.553	B	0.33196	0.159	T	0.52147	-0.8614	10	0.59425	D	0.04	.	19.4692	0.94956	0.0:1.0:0.0:0.0	.	408	Q16719	KYNU_HUMAN	F	408	ENSP00000264170:S408F;ENSP00000386731:S408F	ENSP00000264170:S408F	S	+	2	0	KYNU	143514648	1.000000	0.71417	0.781000	0.31783	0.434000	0.31775	7.246000	0.78247	2.596000	0.87737	0.591000	0.81541	TCT		0.408	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		6	26	0	0	0	1	0	6	26				
PLA2R1	22925	broad.mit.edu	37	2	160807932	160807932	+	Silent	SNP	T	T	C			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr2:160807932T>C	ENST00000283243.7	-	24	3665	c.3459A>G	c.(3457-3459)acA>acG	p.T1153T	PLA2R1_ENST00000392771.1_Silent_p.T1153T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1153	C-type lectin 7. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GATACTGGTCTGTGATGCTGA	0.433																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(3457-3459)acA>acG		phospholipase A2 receptor 1, 180kDa							253.0	233.0	240.0					2																	160807932		2203	4300	6503	SO:0001819	synonymous_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160807932T>C	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.3459A>G	2.37:g.160807932T>C						PLA2R1_ENST00000392771.1_Silent_p.T1153T	p.T1153T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			24	3665	-			1153			C-type lectin 7.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Silent	SNP	ENST00000283243.7	37	c.3459A>G	CCDS33309.1																																																																																				0.433	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			17	31	0	0	0	1	0	17	31				
FOXN3	1112	broad.mit.edu	37	14	89628877	89628877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr14:89628877C>A	ENST00000345097.4	-	7	1470	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	FOXN3_ENST00000261302.5_Nonsense_Mutation_p.E452*|FOXN3_ENST00000557258.1_Nonsense_Mutation_p.E430*|FOXN3_ENST00000555353.1_Nonsense_Mutation_p.E430*	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	452					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTTTCATCTCCTCATCATCG	0.567																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1354-1356)Gag>Tag		forkhead box N3							71.0	71.0	71.0					14																	89628877		2203	4300	6503	SO:0001587	stop_gained	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89628877C>A		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1354G>T	14.37:g.89628877C>A	ENSP00000343288:p.Glu452*					FOXN3_ENST00000261302.5_Nonsense_Mutation_p.E452*|FOXN3_ENST00000555353.1_Nonsense_Mutation_p.E430*|FOXN3_ENST00000557258.1_Nonsense_Mutation_p.E430*	p.E452*	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1470	-			452					Q96II7|Q9UIE7	Nonsense_Mutation	SNP	ENST00000345097.4	37	c.1354G>T	CCDS41977.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241396	0.95272	.	.	ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.9882	0.97356	0.0:1.0:0.0:0.0	.	.	.	.	X	452;452;430;430	.	ENSP00000261302:E452X	E	-	1	0	FOXN3	88698630	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GAG		0.567	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		16	36	1	0	1.99824e-07	1	2.14097e-07	16	36				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	40	0	0	0	1	0	4	40				
DHX57	90957	broad.mit.edu	37	2	39050325	39050325	+	Missense_Mutation	SNP	C	C	T	rs146225438		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr2:39050325C>T	ENST00000295373.6	-	17	3227	c.3101G>A	c.(3100-3102)cGt>cAt	p.R1034H		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1034							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTTGAGGCACGAAGAGAATC	0.428																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3100-3102)cGt>cAt		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57		C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	92.0	92.0	92.0		3101	4.9	1.0	2	dbSNP_134	92	0,8600		0,0,4300	no	missense	DHX57	NM_198963.1	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	1034/1387	39050325	2,13004	2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39050325C>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.3101G>A	2.37:g.39050325C>T	ENSP00000295373:p.Arg1034His						p.R1034H	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			17	3227	-		all_hematologic(82;0.248)	1034					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.3101G>A	CCDS1800.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572644	0.45798	4.54E-4	0.0	ENSG00000163214	ENST00000295373	T	0.02631	4.22	5.76	4.88	0.63580	.	0.124701	0.36591	N	0.002505	T	0.02571	0.0078	N	0.25286	0.73	0.35171	D	0.771543	B;B	0.13145	0.007;0.003	B;B	0.08055	0.003;0.002	T	0.40646	-0.9552	10	0.42905	T	0.14	.	9.959	0.41684	0.0:0.7896:0.0:0.2104	.	1034;426	Q6P158;Q59G60	DHX57_HUMAN;.	H	1034	ENSP00000295373:R1034H	ENSP00000295373:R1034H	R	-	2	0	DHX57	38903829	0.957000	0.32711	0.993000	0.49108	0.968000	0.65278	1.941000	0.40233	1.426000	0.47256	0.655000	0.94253	CGT		0.428	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		17	42	0	0	0	1	0	17	42				
DHRS4L2	317749	broad.mit.edu	37	14	24464290	24464290	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr14:24464290T>C	ENST00000335125.6	+	3	482	c.356T>C	c.(355-357)gTc>gCc	p.V119A	DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.V119A|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.V18A|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.V117A|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.V119A	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	117						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		AATGCTGCTGTCAACCCTTTC	0.537																																						ENST00000335125.6																			0				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10						c.(355-357)gTc>gCc		dehydrogenase/reductase (SDR family) member 4 like 2							468.0	426.0	440.0					14																	24464290		2203	4300	6503	SO:0001583	missense	317749						binding|oxidoreductase activity	g.chr14:24464290T>C		CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.356T>C	14.37:g.24464290T>C	ENSP00000334801:p.Val119Ala					DHRS4L2_ENST00000382755.4_Missense_Mutation_p.V117A|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.V18A|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.V119A|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.V119A	p.V119A	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	3	482	+			74					Q3YLD4	Missense_Mutation	SNP	ENST00000335125.6	37	c.356T>C	CCDS9606.2	.	.	.	.	.	.	.	.	.	.	-	15.35	2.807853	0.50421	.	.	ENSG00000187630	ENST00000534993;ENST00000397071;ENST00000335125;ENST00000545240;ENST00000382755	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	4.64	4.64	0.57946	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89983	0.6873	L	0.47078	1.49	0.22771	N	0.998754	P	0.49253	0.921	P	0.57152	0.814	T	0.83003	-0.0176	10	0.40728	T	0.16	.	12.06	0.53557	0.0:0.0:0.0:1.0	.	117	Q6PKH6	DR4L2_HUMAN	A	18;119;119;119;117	ENSP00000380261:V119A;ENSP00000334801:V119A;ENSP00000437883:V119A;ENSP00000372203:V117A	ENSP00000334801:V119A	V	+	2	0	DHRS4L2	23534130	1.000000	0.71417	0.995000	0.50966	0.773000	0.43773	5.361000	0.66092	1.725000	0.51514	0.327000	0.21459	GTC		0.537	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071858.4			82	375	0	0	0	1	0	82	375				
SH3GL1	6455	broad.mit.edu	37	19	4363847	4363847	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:4363847C>T	ENST00000269886.3	-	6	672	c.494G>A	c.(493-495)cGc>cAc	p.R165H	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Missense_Mutation_p.R117H|SH3GL1_ENST00000598564.1_Missense_Mutation_p.R101H	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	165	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AAAGTCCAGGCGGCGGCCCTC	0.622			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	ENST00000269886.3				Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26						c.(493-495)cGc>cAc		SH3-domain GRB2-like 1							35.0	40.0	39.0					19																	4363847		2203	4299	6502	SO:0001583	missense	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4363847C>T		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.494G>A	19.37:g.4363847C>T	ENSP00000269886:p.Arg165His					AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Missense_Mutation_p.R101H|SH3GL1_ENST00000417295.2_Missense_Mutation_p.R117H	p.R165H	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	6	672	-			165			BAR.		B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	ENST00000269886.3	37	c.494G>A	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	35	5.456733	0.96223	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.42131	0.98;0.98	4.59	4.59	0.56863	BAR (3);	0.000000	0.85682	D	0.000000	T	0.73481	0.3592	H	0.94847	3.59	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.70487	0.969;0.968;0.968	T	0.82868	-0.0244	10	0.87932	D	0	0.7649	16.7043	0.85367	0.0:1.0:0.0:0.0	.	117;165;165	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	H	165;117	ENSP00000269886:R165H;ENSP00000404568:R117H	ENSP00000269886:R165H	R	-	2	0	SH3GL1	4314847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.731000	0.84895	2.257000	0.74773	0.561000	0.74099	CGC		0.622	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		36	2	0	0	0	1	0	36	2				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	86	0	0	0	1	0	4	86				
NCAPH2	29781	broad.mit.edu	37	22	50955912	50955912	+	Splice_Site	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr22:50955912G>A	ENST00000420993.2	+	3	388		c.e3+1		NCAPH2_ENST00000395701.3_Splice_Site|NCAPH2_ENST00000395698.3_Splice_Site|NCAPH2_ENST00000299821.11_Splice_Site	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2						chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CTGGAAAGAGGTGAGTTCTGC	0.607																																						ENST00000395701.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24						c.e3+1		non-SMC condensin II complex, subunit H2							85.0	86.0	85.0					22																	50955912		2203	4300	6503	SO:0001630	splice_region_variant	29781				chromosome condensation	chromosome|nucleus		g.chr22:50955912G>A	BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.266+1G>A	22.37:g.50955912G>A						NCAPH2_ENST00000395698.3_Splice_Site|NCAPH2_ENST00000420993.2_Splice_Site|NCAPH2_ENST00000299821.11_Splice_Site				Q6IBW4	CNDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.212)	3	360	+		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)						B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Splice_Site	SNP	ENST00000420993.2	37		CCDS14094.2	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703093	0.48412	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821;ENST00000496227	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4642	0.84073	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NCAPH2	49302778	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	4.218000	0.58554	2.463000	0.83235	0.561000	0.74099	.		0.607	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317012.1	NM_152299	Intron	102	75	0	0	0	1	0	102	75				
CX3CR1	1524	broad.mit.edu	37	3	39307306	39307306	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr3:39307306A>C	ENST00000541347.1	-	2	934	c.695T>G	c.(694-696)cTg>cGg	p.L232R	CX3CR1_ENST00000358309.3_Missense_Mutation_p.L264R|CX3CR1_ENST00000399220.2_Missense_Mutation_p.L232R|CX3CR1_ENST00000542107.1_Missense_Mutation_p.L232R	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	232					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAGAAGGATCAGTTTAATGGC	0.448																																						ENST00000541347.1																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(694-696)cTg>cGg		chemokine (C-X3-C motif) receptor 1							111.0	118.0	115.0					3																	39307306		1942	4140	6082	SO:0001583	missense	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307306A>C	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.695T>G	3.37:g.39307306A>C	ENSP00000439140:p.Leu232Arg					CX3CR1_ENST00000358309.3_Missense_Mutation_p.L264R|CX3CR1_ENST00000542107.1_Missense_Mutation_p.L232R|CX3CR1_ENST00000399220.2_Missense_Mutation_p.L232R	p.L232R	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	934	-			232					A0N0N6|B2R5Z4|J3KP17	Missense_Mutation	SNP	ENST00000541347.1	37	c.695T>G	CCDS43069.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.885242	0.72410	.	.	ENSG00000168329	ENST00000399220;ENST00000538756;ENST00000358309;ENST00000541347;ENST00000542107	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	5.77	5.77	0.91146	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000001	T	0.69333	0.3099	M	0.86573	2.825	0.51012	D	0.9999	D	0.89917	1.0	D	0.85130	0.997	T	0.75502	-0.3295	10	0.87932	D	0	.	14.9109	0.70755	1.0:0.0:0.0:0.0	.	232	P49238	CX3C1_HUMAN	R	232;240;264;232;232	ENSP00000382166:L232R;ENSP00000351059:L264R;ENSP00000439140:L232R;ENSP00000444928:L232R	ENSP00000351059:L264R	L	-	2	0	CX3CR1	39282310	0.999000	0.42202	0.213000	0.23690	0.724000	0.41520	9.265000	0.95647	2.200000	0.70718	0.533000	0.62120	CTG		0.448	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		5	61	0	0	0	1	0	5	61				
WDR62	284403	broad.mit.edu	37	19	36591677	36591677	+	Missense_Mutation	SNP	G	G	A	rs141094124		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:36591677G>A	ENST00000270301.7	+	23	2767	c.2767G>A	c.(2767-2769)Ggg>Agg	p.G923R	WDR62_ENST00000401500.2_Missense_Mutation_p.G923R			O43379	WDR62_HUMAN	WD repeat domain 62	923					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCTGGCCGCGGGCACCCCTC	0.607																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2767-2769)Ggg>Agg		WD repeat domain 62		G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	76.0	78.0	77.0		2767,2767	1.2	0.0	19	dbSNP_134	77	0,8600		0,0,4300	no	missense,missense	WDR62	NM_001083961.1,NM_173636.4	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	923/1524,923/1519	36591677	1,13005	2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36591677G>A	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2767G>A	19.37:g.36591677G>A	ENSP00000270301:p.Gly923Arg					WDR62_ENST00000270301.7_Missense_Mutation_p.G923R	p.G923R	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		23	2802	+	Esophageal squamous(110;0.162)		923					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.2767G>A	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	0.140	-1.102997	0.01828	2.27E-4	0.0	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.28895	1.59;1.59	4.65	1.22	0.21188	.	0.725201	0.13552	N	0.379404	T	0.19327	0.0464	L	0.36672	1.1	0.09310	N	1	B;B	0.29716	0.255;0.166	B;B	0.25140	0.058;0.026	T	0.17623	-1.0363	10	0.25106	T	0.35	-14.522	6.4695	0.21999	0.3261:0.0:0.6739:0.0	.	923;923	O43379-4;O43379	.;WDR62_HUMAN	R	923	ENSP00000384792:G923R;ENSP00000270301:G923R	ENSP00000270301:G923R	G	+	1	0	WDR62	41283517	0.191000	0.23288	0.001000	0.08648	0.015000	0.08874	0.862000	0.27899	0.376000	0.24707	-0.291000	0.09656	GGG		0.607	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		18	87	0	0	0	1	0	18	87				
PLAC1	10761	broad.mit.edu	37	X	133700506	133700506	+	Silent	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chrX:133700506G>A	ENST00000359237.4	-	3	492	c.207C>T	c.(205-207)caC>caT	p.H69H	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					ACTGGTAGGCGTGTGGCTGAA	0.498																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(205-207)caC>caT		placenta-specific 1							234.0	194.0	208.0					X																	133700506		2203	4300	6503	SO:0001819	synonymous_variant	10761				placenta development	extracellular region		g.chrX:133700506G>A	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.207C>T	X.37:g.133700506G>A						PLAC1_ENST00000476971.1_5'UTR	p.H69H	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN			3	492	-	Acute lymphoblastic leukemia(192;0.000127)		69						Silent	SNP	ENST00000359237.4	37	c.207C>T	CCDS14642.1																																																																																				0.498	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		61	4	0	0	0	1	0	61	4				
PIDD1	55367	broad.mit.edu	37	11	803576	803576	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:803576G>A	ENST00000347755.5	-	3	448	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	PIDD_ENST00000411829.2_Missense_Mutation_p.R103W|PIDD_ENST00000534649.1_5'UTR	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2																					AGTGTGTCCCGGCGTTGCCCT	0.672																																						ENST00000347755.5																			0											c.(307-309)Cgg>Tgg		p53-induced death domain protein							23.0	28.0	26.0					11																	803576		2198	4294	6492	SO:0001583	missense	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:803576G>A																												ENST00000347755.5:c.307C>T	11.37:g.803576G>A	ENSP00000337797:p.Arg103Trp					PIDD_ENST00000411829.2_Missense_Mutation_p.R103W|PIDD_ENST00000534649.1_5'UTR	p.R103W	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN			3	448	-			103						Missense_Mutation	SNP	ENST00000347755.5	37	c.307C>T	CCDS7716.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.650580	0.29336	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	T;T	0.19250	2.16;2.16	4.34	2.39	0.29439	.	0.638282	0.14984	N	0.287087	T	0.10252	0.0251	N	0.14661	0.345	0.09310	N	1	B;B	0.21381	0.008;0.055	B;B	0.14578	0.002;0.011	T	0.24225	-1.0166	10	0.41790	T	0.15	.	3.8314	0.08876	0.2062:0.0:0.5522:0.2416	.	103;103	Q9HB75;Q9HB75-2	PIDD_HUMAN;.	W	103	ENSP00000416801:R103W;ENSP00000337797:R103W	ENSP00000337797:R103W	R	-	1	2	PIDD	793576	0.078000	0.21339	0.001000	0.08648	0.230000	0.25150	0.403000	0.20982	0.415000	0.25817	0.462000	0.41574	CGG		0.672	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			17	0	0	0	0	1	0	17	0				
ZCCHC24	219654	broad.mit.edu	37	10	81146031	81146031	+	3'UTR	SNP	G	G	A	rs372724747		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr10:81146031G>A	ENST00000372336.3	-	0	982				RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372333.3_Missense_Mutation_p.P206L	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24								poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GCAGCCCCTCGGAGTAGCACA	0.697																																						ENST00000372333.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						c.(616-618)cCg>cTg		zinc finger, CCHC domain containing 24																																				SO:0001624	3_prime_UTR_variant	219654						nucleic acid binding|zinc ion binding	g.chr10:81146031G>A	AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.*70C>T	10.37:g.81146031G>A						RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372336.3_3'UTR	p.P206L			Q8N2G6	ZCH24_HUMAN			4	667	-			152					Q5U5T9|Q8TAG0	Missense_Mutation	SNP	ENST00000372336.3	37	c.617C>T	CCDS7359.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.692981	0.30052	.	.	ENSG00000165424	ENST00000372333	.	.	.	4.35	-3.96	0.04106	.	.	.	.	.	T	0.24314	0.0589	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.29761	-1.0001	7	0.87932	D	0	.	0.6433	0.00814	0.2007:0.2274:0.3323:0.2395	.	206	Q5W133	.	L	206	.	ENSP00000361408:P206L	P	-	2	0	ZCCHC24	80816037	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.228000	0.17814	-0.946000	0.03677	-0.982000	0.02568	CCG		0.697	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367		7	6	0	0	0	1	0	7	6				
OR5D14	219436	broad.mit.edu	37	11	55563682	55563682	+	Silent	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:55563682C>T	ENST00000335605.1	+	1	651	c.651C>T	c.(649-651)ctC>ctT	p.L217L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGATCATCCTCACTTCCTATG	0.478																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(649-651)ctC>ctT		olfactory receptor, family 5, subfamily D, member 14							198.0	185.0	190.0					11																	55563682		2200	4296	6496	SO:0001819	synonymous_variant	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563682C>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.651C>T	11.37:g.55563682C>T							p.L217L	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	651	+		all_epithelial(135;0.196)	217					Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	c.651C>T	CCDS31508.1																																																																																				0.478	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		21	103	0	0	0	1	0	21	103				
CPSF3L	54973	broad.mit.edu	37	1	1256383	1256383	+	Missense_Mutation	SNP	T	T	C	rs200408789		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:1256383T>C	ENST00000435064.1	-	2	201	c.119A>G	c.(118-120)aAt>aGt	p.N40S	CPSF3L_ENST00000545578.1_Missense_Mutation_p.N11S|CPSF3L_ENST00000419704.1_Missense_Mutation_p.N40S|CPSF3L_ENST00000540437.1_Missense_Mutation_p.N46S|CPSF3L_ENST00000450926.2_Missense_Mutation_p.N40S|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000421495.2_Intron|RP5-890O3.9_ENST00000444968.1_RNA	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	40					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CACGTCGTCATTGAAGCCCAT	0.652																																						ENST00000540437.1																			0				endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(136-138)aAt>aGt		cleavage and polyadenylation specific factor 3-like							114.0	98.0	103.0					1																	1256383		2202	4300	6502	SO:0001583	missense	54973					Golgi apparatus|nucleus	hydrolase activity	g.chr1:1256383T>C	AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.119A>G	1.37:g.1256383T>C	ENSP00000413493:p.Asn40Ser					CPSF3L_ENST00000435064.1_Missense_Mutation_p.N40S|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Missense_Mutation_p.N40S|CPSF3L_ENST00000419704.1_Missense_Mutation_p.N40S|CPSF3L_ENST00000545578.1_Missense_Mutation_p.N11S	p.N46S	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)	4	592	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	40					A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	ENST00000435064.1	37	c.137A>G	CCDS21.1	.	.	.	.	.	.	.	.	.	.	t	8.299	0.819410	0.16607	.	.	ENSG00000127054	ENST00000435064;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694;ENST00000527719;ENST00000530031;ENST00000534345;ENST00000498476	T;T;T;T;T;T;T;T;T;T	0.78924	0.99;0.99;0.99;0.99;-1.22;0.99;-1.22;-1.22;0.99;0.99	4.8	2.38	0.29361	Beta-lactamase-like (2);	0.209040	0.48286	N	0.000195	T	0.61540	0.2355	N	0.20881	0.62	0.58432	D	0.999998	B;B;B;B;B;B	0.26708	0.002;0.011;0.157;0.005;0.002;0.002	B;B;B;B;B;B	0.25987	0.005;0.023;0.065;0.007;0.021;0.008	T	0.50600	-0.8809	10	0.36615	T	0.2	-9.7204	8.3644	0.32378	0.0:0.1743:0.0:0.8257	.	40;40;59;40;46;40	Q5TA45-3;C9J979;Q5TA51;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	S	40;52;40;46;40;11;40;46;87;41;100	ENSP00000413493:N40S;ENSP00000404886:N40S;ENSP00000445001:N46S;ENSP00000392848:N40S;ENSP00000444672:N11S;ENSP00000411233:N40S;ENSP00000436743:N46S;ENSP00000432009:N87S;ENSP00000435772:N41S;ENSP00000436824:N100S	ENSP00000294579:N52S	N	-	2	0	CPSF3L	1246246	1.000000	0.71417	0.403000	0.26384	0.804000	0.45430	3.341000	0.52151	0.180000	0.19960	-0.424000	0.05967	AAT		0.652	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009360.2	NM_017871		27	64	0	0	0	1	0	27	64				
NWD1	284434	broad.mit.edu	37	19	16860396	16860396	+	Missense_Mutation	SNP	C	C	T	rs148848880		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:16860396C>T	ENST00000552788.1	+	4	943	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	NWD1_ENST00000339803.6_Missense_Mutation_p.R180C|NWD1_ENST00000379808.3_Missense_Mutation_p.R315C|NWD1_ENST00000524140.2_Missense_Mutation_p.R315C|NWD1_ENST00000549814.1_Missense_Mutation_p.R315C|NWD1_ENST00000523826.1_Missense_Mutation_p.R109C			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	315							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTCTGCGGACGCCAGGAACT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		18806	0.001		0.0	False		,,,				2504	0.0					ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(943-945)Cgc>Tgc		NACHT and WD repeat domain containing 1		C	CYS/ARG	0,4406		0,0,2203	39.0	42.0	41.0		943	3.2	1.0	19	dbSNP_134	41	4,8596	3.7+/-12.6	0,4,4296	no	missense	NWD1	NM_001007525.3	180	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	315/1433	16860396	4,13002	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16860396C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.943C>T	19.37:g.16860396C>T	ENSP00000447224:p.Arg315Cys					NWD1_ENST00000552788.1_Missense_Mutation_p.R315C|NWD1_ENST00000549814.1_Missense_Mutation_p.R315C|NWD1_ENST00000379808.3_Missense_Mutation_p.R315C|NWD1_ENST00000523826.1_Missense_Mutation_p.R109C|NWD1_ENST00000339803.6_Missense_Mutation_p.R180C	p.R315C	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1361	+			315					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.943C>T		.	.	.	.	.	.	.	.	.	.	c	13.13	2.145851	0.37923	0.0	4.65E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	4.36	3.19	0.36642	.	0.115679	0.49305	D	0.000146	D	0.84759	0.5543	L	0.29908	0.895	0.42256	D	0.991997	D;D;D	0.89917	1.0;0.999;0.999	P;P;P	0.61275	0.886;0.88;0.763	D	0.85965	0.1473	10	0.87932	D	0	-19.118	10.6855	0.45841	0.2361:0.7639:0.0:0.0	.	315;315;180	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	C	180;315;315;315;109;315;180	ENSP00000428579:R315C;ENSP00000447548:R315C;ENSP00000369136:R315C;ENSP00000428955:R109C;ENSP00000447224:R315C;ENSP00000340159:R180C	ENSP00000340159:R180C	R	+	1	0	NWD1	16721396	0.993000	0.37304	0.953000	0.39169	0.040000	0.13550	2.405000	0.44548	2.143000	0.66587	0.643000	0.83706	CGC		0.627	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		14	35	0	0	0	1	0	14	35				
KLHL20	27252	broad.mit.edu	37	1	173743491	173743491	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:173743491C>G	ENST00000209884.4	+	9	1479	c.1343C>G	c.(1342-1344)aCc>aGc	p.T448S	KLHL20_ENST00000546011.1_Missense_Mutation_p.T259S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	448					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TCTATGAGTACCAGAAGACTA	0.488																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(1342-1344)aCc>aGc		kelch-like family member 20							258.0	223.0	235.0					1																	173743491		2203	4300	6503	SO:0001583	missense	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173743491C>G	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1343C>G	1.37:g.173743491C>G	ENSP00000209884:p.Thr448Ser					KLHL20_ENST00000546011.1_Missense_Mutation_p.T259S	p.T448S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN			9	1479	+			448					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Missense_Mutation	SNP	ENST00000209884.4	37	c.1343C>G	CCDS1310.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636750	0.67130	.	.	ENSG00000076321	ENST00000546011;ENST00000209884	T;T	0.73047	-0.71;-0.22	5.27	5.27	0.74061	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	L	0.45422	1.42	0.80722	D	1	B;B	0.14805	0.009;0.011	B;B	0.19148	0.024;0.024	T	0.56517	-0.7966	10	0.54805	T	0.06	.	17.6701	0.88214	0.0:1.0:0.0:0.0	.	259;448	B4DUR0;Q9Y2M5	.;KLH20_HUMAN	S	259;448	ENSP00000443121:T259S;ENSP00000209884:T448S	ENSP00000209884:T448S	T	+	2	0	KLHL20	172010114	1.000000	0.71417	0.971000	0.41717	0.988000	0.76386	7.592000	0.82676	2.456000	0.83038	0.655000	0.94253	ACC		0.488	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		6	210	0	0	0	1	0	6	210				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	2	0	0	0	1	0	15	2				
VPS13B	157680	broad.mit.edu	37	8	100287482	100287482	+	Splice_Site	SNP	G	G	T	rs370336663		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr8:100287482G>T	ENST00000358544.2	+	19	2935	c.2824G>T	c.(2824-2826)Ggt>Tgt	p.G942C	VPS13B_ENST00000395996.1_Splice_Site_p.G942C|VPS13B_ENST00000357162.2_Splice_Site_p.G942C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	942					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCACAATTCCGGTAAGTACAA	0.333																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.e19+1		vacuolar protein sorting 13 homolog B (yeast)							125.0	128.0	127.0					8																	100287482		2203	4300	6503	SO:0001630	splice_region_variant	157680				protein transport			g.chr8:100287482G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2824+1G>T	8.37:g.100287482G>T						VPS13B_ENST00000357162.2_Splice_Site_p.G942_splice|VPS13B_ENST00000358544.2_Splice_Site_p.G942_splice	p.G942_splice			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		19	2935	+	Breast(36;3.73e-07)		942					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Splice_Site	SNP	ENST00000358544.2	37	c.2824_splice	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593692	0.66219	.	.	ENSG00000132549	ENST00000357162;ENST00000358544;ENST00000395996	T;T;T	0.76186	-1.0;-0.99;-0.69	5.43	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.79557	0.4466	L	0.32530	0.975	0.58432	D	0.999995	D;D;D;P	0.89917	1.0;1.0;1.0;0.927	D;D;D;P	0.97110	0.999;0.998;1.0;0.514	T	0.80562	-0.1327	10	0.52906	T	0.07	.	14.3738	0.66860	0.0719:0.0:0.9281:0.0	.	942;942;942;942	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3	.;.;VP13B_HUMAN;.	C	942	ENSP00000349685:G942C;ENSP00000351346:G942C;ENSP00000379318:G942C	ENSP00000349685:G942C	G	+	1	0	VPS13B	100356658	1.000000	0.71417	0.528000	0.27938	0.284000	0.27059	6.064000	0.71169	1.285000	0.44548	-0.216000	0.12614	GGT		0.333	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	Missense_Mutation	17	71	1	0	4.7546e-09	1	5.18684e-09	17	71				
RNF32	140545	broad.mit.edu	37	7	156447342	156447342	+	Missense_Mutation	SNP	G	G	A	rs554840615		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:156447342G>A	ENST00000405335.1	+	5	756	c.347G>A	c.(346-348)cGc>cAc	p.R116H	RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000311822.8_Missense_Mutation_p.R116H|RNF32_ENST00000343665.4_Missense_Mutation_p.R116H|RNF32_ENST00000392741.2_Missense_Mutation_p.R116H|RNF32_ENST00000317955.5_Missense_Mutation_p.R116H|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000432459.2_Missense_Mutation_p.R116H|RNF32_ENST00000392743.2_Missense_Mutation_p.R116H			Q9H0A6	RNF32_HUMAN	ring finger protein 32	116						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GTGAAACAGCGCTCTCTCCTG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19272	0.0		0.0	False		,,,				2504	0.001					ENST00000392741.2																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(346-348)cGc>cAc		ring finger protein 32							115.0	92.0	100.0					7																	156447342		2203	4300	6503	SO:0001583	missense	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156447342G>A		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	ENST00000405335.1:c.347G>A	7.37:g.156447342G>A	ENSP00000385285:p.Arg116His					RNF32_ENST00000392743.2_Missense_Mutation_p.R116H|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000343665.4_Missense_Mutation_p.R116H|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000317955.5_Missense_Mutation_p.R116H|RNF32_ENST00000432459.2_Missense_Mutation_p.R116H|RNF32_ENST00000311822.8_Missense_Mutation_p.R116H|RNF32_ENST00000405335.1_Missense_Mutation_p.R116H	p.R116H			Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	3	435	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	116					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Missense_Mutation	SNP	ENST00000405335.1	37	c.347G>A	CCDS5944.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.927471	0.73327	.	.	ENSG00000105982	ENST00000404282;ENST00000432459;ENST00000317955;ENST00000405335;ENST00000311822;ENST00000392743;ENST00000392741;ENST00000343665	D;D;D;D;D;D;D;T	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;1.76	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.95903	0.8666	M	0.80746	2.51	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	P;D;D;P	0.65010	0.809;0.931;0.923;0.855	D	0.95832	0.8859	10	0.54805	T	0.06	-10.9341	18.6687	0.91502	0.0:0.0:1.0:0.0	.	116;116;116;116	Q9H0A6-4;G5E940;Q9H0A6-2;Q9H0A6	.;.;.;RNF32_HUMAN	H	116	ENSP00000385815:R116H;ENSP00000405588:R116H;ENSP00000315950:R116H;ENSP00000385285:R116H;ENSP00000308894:R116H;ENSP00000376499:R116H;ENSP00000376497:R116H;ENSP00000341185:R116H	ENSP00000308894:R116H	R	+	2	0	RNF32	156140103	1.000000	0.71417	0.641000	0.29422	0.039000	0.13416	7.472000	0.80996	2.505000	0.84491	0.655000	0.94253	CGC		0.527	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	NM_030936		6	50	0	0	0	1	0	6	50				
HFE	3077	broad.mit.edu	37	6	26091203	26091203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr6:26091203C>T	ENST00000357618.5	+	2	333	c.211C>T	c.(211-213)Cga>Tga	p.R71*	HFE_ENST00000353147.5_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000470149.1_Nonsense_Mutation_p.R71*|HFE_ENST00000317896.7_Nonsense_Mutation_p.R71*|HFE_ENST00000336625.8_Nonsense_Mutation_p.R71*|HFE_ENST00000488199.1_Intron|HFE_ENST00000349999.4_Intron|HFE_ENST00000397022.3_Nonsense_Mutation_p.R48*|HFE_ENST00000309234.6_Nonsense_Mutation_p.R71*|HFE_ENST00000461397.1_Nonsense_Mutation_p.R71*	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	71	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)	p.R71R(1)		endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGGAGCCCCGAACTCCATG	0.512									Hemochromatosis																													ENST00000357618.5																			1	Substitution - coding silent(1)	p.R71R(1)	lung(1)	endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	GRCh37	CM020721	HFE	M		c.(211-213)Cga>Tga		hemochromatosis							109.0	104.0	105.0					6																	26091203		2203	4300	6503	SO:0001587	stop_gained	3077	Hemochromatosis	Familial Cancer Database		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	g.chr6:26091203C>T		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.211C>T	6.37:g.26091203C>T	ENSP00000417404:p.Arg71*					HFE_ENST00000317896.7_Nonsense_Mutation_p.R71*|HFE_ENST00000461397.1_Nonsense_Mutation_p.R71*|HFE_ENST00000309234.6_Nonsense_Mutation_p.R71*|HFE_ENST00000470149.1_Nonsense_Mutation_p.R71*|HFE_ENST00000336625.8_Nonsense_Mutation_p.R71*|HFE_ENST00000349999.4_Intron|HFE_ENST00000397022.3_Nonsense_Mutation_p.R48*|HFE_ENST00000488199.1_Intron|HFE_ENST00000352392.4_Intron|HFE_ENST00000353147.5_Intron	p.R71*	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN			2	333	+			71			Alpha-1.		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Nonsense_Mutation	SNP	ENST00000357618.5	37	c.211C>T	CCDS4578.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811561	0.70797	.	.	ENSG00000010704	ENST00000397022;ENST00000317896;ENST00000535098;ENST00000357618;ENST00000470149;ENST00000336625;ENST00000461397;ENST00000309234	.	.	.	5.3	2.36	0.29203	.	0.427116	0.19838	N	0.104922	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.232	0.20740	0.3034:0.606:0.0:0.0906	.	.	.	.	X	48;71;71;71;71;71;71;71	.	ENSP00000311698:R71X	R	+	1	2	HFE	26199182	0.022000	0.18835	0.003000	0.11579	0.315000	0.28087	0.080000	0.14802	0.724000	0.32296	0.655000	0.94253	CGA		0.512	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1			46	57	0	0	0	1	0	46	57				
LINC00202-2	731789	broad.mit.edu	37	10	26939616	26939616	+	lincRNA	SNP	C	C	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr10:26939616C>A	ENST00000544033.1	+	0	5549					NR_026794.1				long intergenic non-protein coding RNA 202-2																		GGCATACATTCCACCCAGCCG	0.522																																						ENST00000544033.1																			0																																																			0							g.chr10:26939616C>A			10p12.1	2013-07-05			ENSG00000231976	ENSG00000231976		"""Long non-coding RNAs"""	44917	non-coding RNA	RNA, long non-coding							Standard	NR_026794		Approved		uc001isu.4		OTTHUMG00000017842		10.37:g.26939616C>A								NR_026794.1						0	5549	+									RNA	SNP	ENST00000544033.1	37																																																																																						0.522	LINC00202-2-201	KNOWN	basic	lincRNA	lincRNA		NR_026794		5	42	1	0	0.000602214	1	0.000612421	5	42				
NAT2	10	broad.mit.edu	37	8	18258041	18258041	+	Silent	SNP	T	T	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr8:18258041T>A	ENST00000286479.3	+	2	635	c.528T>A	c.(526-528)ctT>ctA	p.L176L	NAT2_ENST00000520116.1_Silent_p.L46L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	176					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	AAGAATTTCTTAATTCTCATC	0.383									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000286479.3																			0				kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12						c.(526-528)ctT>ctA		N-acetyltransferase 2 (arylamine N-acetyltransferase)							55.0	59.0	58.0					8																	18258041		2199	4300	6499	SO:0001819	synonymous_variant	10	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity	g.chr8:18258041T>A	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.528T>A	8.37:g.18258041T>A						NAT2_ENST00000520116.1_Silent_p.L46L	p.L176L	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN		Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	2	635	+			176					O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Silent	SNP	ENST00000286479.3	37	c.528T>A	CCDS6008.1																																																																																				0.383	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253380.1	NM_000015		7	54	0	0	0	1	0	7	54				
BGLT3	103344929	broad.mit.edu	37	11	5264424	5264424	+	RNA	SNP	A	A	G			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:5264424A>G	ENST00000564523.1	-	0	1988				HBBP1_ENST00000454892.1_RNA																							CGTGAGCATAACAGCTTTTCC	0.488																																						ENST00000454892.1																			0																																																			0							g.chr11:5264424A>G																													11.37:g.5264424A>G								NR_001589.1						0	72	-									RNA	SNP	ENST00000564523.1	37																																																																																						0.488	CTD-2643I7.1-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000422245.1			3	11	0	0	0	1	0	3	11				
LRRC46	90506	broad.mit.edu	37	17	45911901	45911901	+	Splice_Site	SNP	T	T	C			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:45911901T>C	ENST00000269025.4	+	3	588		c.e3+2			NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTGCAAGGGGTAACTTCTTTC	0.527																																						ENST00000269025.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						c.e3+2		leucine rich repeat containing 46							108.0	108.0	108.0					17																	45911901		2203	4300	6503	SO:0001630	splice_region_variant	90506							g.chr17:45911901T>C		CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.225+2T>C	17.37:g.45911901T>C								NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN			3	588	+								A8K9Q0	Splice_Site	SNP	ENST00000269025.4	37		CCDS11518.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556792	0.45487	.	.	ENSG00000141294	ENST00000269025	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.766	0.51930	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRC46	43266900	1.000000	0.71417	0.995000	0.50966	0.478000	0.33099	4.601000	0.61090	2.044000	0.60594	0.528000	0.53228	.		0.527	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441377.1	NM_033413	Intron	57	3	0	0	0	1	0	57	3				
CD1E	913	broad.mit.edu	37	1	158325665	158325665	+	Missense_Mutation	SNP	G	G	A	rs202212296	byFrequency	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:158325665G>A	ENST00000368167.3	+	4	913	c.674G>A	c.(673-675)cGt>cAt	p.R225H	CD1E_ENST00000368166.3_Missense_Mutation_p.R36H|CD1E_ENST00000368164.3_Missense_Mutation_p.R36H|CD1E_ENST00000368163.3_Missense_Mutation_p.R225H|CD1E_ENST00000368155.3_Missense_Mutation_p.R135H|CD1E_ENST00000444681.2_Missense_Mutation_p.R126H|CD1E_ENST00000368154.1_Missense_Mutation_p.R36H|CD1E_ENST00000452291.2_Missense_Mutation_p.R36H|CD1E_ENST00000368160.3_Missense_Mutation_p.R225H|CD1E_ENST00000368157.1_Missense_Mutation_p.R36H|CD1E_ENST00000434258.1_Missense_Mutation_p.R223H|CD1E_ENST00000368156.1_Missense_Mutation_p.R135H|CD1E_ENST00000368165.3_Missense_Mutation_p.R135H|CD1E_ENST00000368161.3_Missense_Mutation_p.R225H	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	225	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGCCCTGGCCGTCTGCAGCTT	0.592													g|||	3	0.000599042	0.0008	0.0	5008	,	,		16365	0.001		0.0	False		,,,				2504	0.001					ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(376-378)cGt>cAt		CD1e molecule		A	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	13,4393	21.2+/-45.6	0,13,2190	51.0	52.0	51.0		674,674,674,107,107,404,404,107,107,107,377,404,674	-1.7	1.0	1		51	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	CD1E	NM_001042583.2,NM_001042584.2,NM_001042585.2,NM_001042586.2,NM_001042587.2,NM_001185107.1,NM_001185108.1,NM_001185110.1,NM_001185112.1,NM_001185113.1,NM_001185114.1,NM_001185115.1,NM_030893.3	29,29,29,29,29,29,29,29,29,29,29,29,29	0,13,6490	AA,AG,GG		0.0,0.2951,0.1	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	225/377,225/291,225/322,36/188,36/102,135/299,135/232,36/133,36/200,36/145,126/290,135/287,225/389	158325665	13,12993	2203	4300	6503	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325665G>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.674G>A	1.37:g.158325665G>A	ENSP00000357149:p.Arg225His					CD1E_ENST00000434258.1_Missense_Mutation_p.R223H|CD1E_ENST00000368166.3_Missense_Mutation_p.R36H|CD1E_ENST00000368160.3_Missense_Mutation_p.R225H|CD1E_ENST00000368163.3_Missense_Mutation_p.R225H|CD1E_ENST00000368156.1_Missense_Mutation_p.R135H|CD1E_ENST00000368154.1_Missense_Mutation_p.R36H|CD1E_ENST00000368165.3_Missense_Mutation_p.R135H|CD1E_ENST00000368155.3_Missense_Mutation_p.R135H|CD1E_ENST00000368161.3_Missense_Mutation_p.R225H|CD1E_ENST00000368157.1_Missense_Mutation_p.R36H|CD1E_ENST00000368164.3_Missense_Mutation_p.R36H|CD1E_ENST00000368167.3_Missense_Mutation_p.R225H|CD1E_ENST00000452291.2_Missense_Mutation_p.R36H	p.R126H	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			3	670	+	all_hematologic(112;0.0378)		225					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.377G>A	CCDS41417.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	g	10.84	1.462948	0.26248	0.002951	0.0	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368164;ENST00000368157;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155;ENST00000368154	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46819	2.55;2.55;2.55;2.55;2.55;2.55;2.55;0.86;2.55;2.55;3.94;2.55;3.52;0.95	4.51	-1.71	0.08133	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (1);	0.429971	0.20186	N	0.097401	T	0.06645	0.0170	N	0.10972	0.075	0.21064	N	0.999796	B;B;B;B;B;P;B;B;B;B;B;B;B;B;B	0.37141	0.003;0.081;0.165;0.02;0.0;0.584;0.003;0.042;0.026;0.004;0.126;0.0;0.078;0.029;0.031	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.24541	0.008;0.014;0.014;0.003;0.002;0.054;0.001;0.018;0.012;0.002;0.017;0.001;0.029;0.006;0.008	T	0.38802	-0.9644	10	0.22706	T	0.39	-9.7394	8.3668	0.32391	0.5969:0.0:0.4031:0.0	.	36;126;223;126;135;135;36;36;225;225;225;36;36;135;225	B4E057;B4E042;E7ET31;E7EP01;P15812-5;P15812-7;P15812-9;P15812-10;P15812-2;P15812;P15812-3;P15812-8;P15812-11;P15812-6;P15812-4	.;.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.;.;.;.	H	223;126;225;36;135;36;225;36;36;225;225;135;135;36	ENSP00000401957:R223H;ENSP00000402906:R126H;ENSP00000357149:R225H;ENSP00000416228:R36H;ENSP00000357147:R135H;ENSP00000357148:R36H;ENSP00000357145:R225H;ENSP00000357146:R36H;ENSP00000357139:R36H;ENSP00000357142:R225H;ENSP00000357143:R225H;ENSP00000357138:R135H;ENSP00000357137:R135H;ENSP00000357136:R36H	ENSP00000357136:R36H	R	+	2	0	CD1E	156592289	0.000000	0.05858	0.971000	0.41717	0.724000	0.41520	-1.243000	0.02905	-0.182000	0.10602	-0.213000	0.12676	CGT		0.592	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		44	51	0	0	0	1	0	44	51				
SPCS3	60559	broad.mit.edu	37	4	177241254	177241254	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr4:177241254C>G	ENST00000503362.1	+	1	140	c.27C>G	c.(25-27)aaC>aaG	p.N9K	RP11-87F15.2_ENST00000512634.1_RNA	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		CGCGGGCGAACTCACTGTTCG	0.672																																						ENST00000503362.1																			0				ovary(2)	2						c.(25-27)aaC>aaG		signal peptidase complex subunit 3 homolog (S. cerevisiae)							86.0	99.0	95.0					4																	177241254		2100	4208	6308	SO:0001583	missense	60559				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity	g.chr4:177241254C>G	AK092634	CCDS54823.1	4q34.2	2008-02-05				ENSG00000129128			26212	protein-coding gene	gene with protein product						12477932	Standard	NM_021928		Approved	FLJ22649, SPC22/23, SPC3, YLR066W, PRO3567	uc003iur.4	P61009		ENST00000503362.1:c.27C>G	4.37:g.177241254C>G	ENSP00000427463:p.Asn9Lys					RP11-87F15.2_ENST00000512634.1_RNA	p.N9K	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)	1	140	+		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	9					P12280|Q9H0S7	Missense_Mutation	SNP	ENST00000503362.1	37	c.27C>G	CCDS54823.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560612	0.45590	.	.	ENSG00000129128	ENST00000503362	.	.	.	3.09	1.24	0.21308	.	0.000000	0.85682	D	0.000000	T	0.76543	0.4002	M	0.87269	2.87	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.73026	-0.4112	9	0.56958	D	0.05	-5.1647	6.1387	0.20247	0.0:0.5325:0.0:0.4675	.	9	P61009	SPCS3_HUMAN	K	9	.	ENSP00000427463:N9K	N	+	3	2	SPCS3	177478248	0.998000	0.40836	0.999000	0.59377	0.299000	0.27559	0.473000	0.22132	0.117000	0.18138	0.305000	0.20034	AAC		0.672	SPCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362329.1	NM_021928		52	67	0	0	0	1	0	52	67				
PRSS3P2	154754	broad.mit.edu	37	7	142482229	142482229	+	RNA	SNP	T	T	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:142482229T>A	ENST00000603901.1	+	0	609					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.P203P(1)									CTGGTGGCCCTGTGGTCTGCA	0.493																																						ENST00000603901.1																			1	Substitution - coding silent(1)	p.P203P(1)	prostate(1)																																																0							g.chr7:142482229T>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482229T>A								NR_001296.3						0	609	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	44	0	0	0	1	0	4	44				
TSNAX	7257	broad.mit.edu	37	1	231696874	231696874	+	Splice_Site	SNP	G	G	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:231696874G>T	ENST00000366639.4	+	5	526	c.368G>T	c.(367-369)gGa>gTa	p.G123V	TSNAX-DISC1_ENST00000602962.1_Splice_Site_p.G123V	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	123	Interaction with C1D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				ACGCTTTCAGGACTACAGGAA	0.279																																						ENST00000602962.1																			0											c.e5-1									50.0	54.0	53.0					1																	231696874		2202	4297	6499	SO:0001630	splice_region_variant	0							g.chr1:231696874G>T	X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.368-1G>T	1.37:g.231696874G>T						TSNAX_ENST00000366639.4_Splice_Site_p.G123_splice	p.G123_splice							5	526	+								B1APC6	Splice_Site	SNP	ENST00000366639.4	37	c.367_splice	CCDS1596.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499436	0.85069	.	.	ENSG00000116918	ENST00000366639;ENST00000413309	.	.	.	5.56	5.56	0.83823	Translin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87277	0.6137	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89693	0.3899	8	.	.	.	.	19.8818	0.96901	0.0:0.0:1.0:0.0	.	123	Q99598	TSNAX_HUMAN	V	123;130	.	.	G	+	2	0	TSNAX	229763497	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.813000	0.91963	2.773000	0.95371	0.655000	0.94253	GGA		0.279	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095267.2	NM_005999	Missense_Mutation	14	9	1	0	7.93312e-07	1	8.35065e-07	14	9				
BGLT3	103344929	broad.mit.edu	37	11	5264422	5264422	+	RNA	SNP	T	T	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:5264422T>A	ENST00000564523.1	-	0	1988				HBBP1_ENST00000454892.1_RNA																							TCCGTGAGCATAACAGCTTTT	0.488																																						ENST00000454892.1																			0																																																			0							g.chr11:5264422T>A																													11.37:g.5264422T>A								NR_001589.1						0	74	-									RNA	SNP	ENST00000564523.1	37																																																																																						0.488	CTD-2643I7.1-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000422245.1			3	12	0	0	0	1	0	3	12				
MARCH6	10299	broad.mit.edu	37	5	10403623	10403623	+	Silent	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr5:10403623C>T	ENST00000274140.5	+	15	1434	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y	MARCH6_ENST00000510792.1_Silent_p.Y132Y|MARCH6_ENST00000503788.1_Silent_p.Y329Y|MARCH6_ENST00000449913.2_Silent_p.Y386Y	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	434					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ATGTCTTCTACTTTGCCTCCT	0.428																																						ENST00000274140.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						c.(1300-1302)taC>taT		membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase							168.0	148.0	155.0					5																	10403623		2203	4300	6503	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10403623C>T	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1302C>T	5.37:g.10403623C>T						MARCH6_ENST00000503788.1_Silent_p.Y329Y|MARCH6_ENST00000510792.1_Silent_p.Y132Y|MARCH6_ENST00000449913.2_Silent_p.Y386Y	p.Y434Y	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN			15	1434	+			434					A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.1302C>T	CCDS34135.1																																																																																				0.428	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		34	26	0	0	0	1	0	34	26				
PCDHA1	56147	broad.mit.edu	37	5	140166141	140166141	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr5:140166141G>A	ENST00000504120.2	+	1	266	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R89Q|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R89Q	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	89	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAATTCTCGGATCGATCGC	0.582																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(265-267)cGg>cAg									88.0	94.0	92.0					5																	140166141		2203	4300	6503	SO:0001583	missense	0							g.chr5:140166141G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.266G>A	5.37:g.140166141G>A	ENSP00000420840:p.Arg89Gln					PCDHA1_ENST00000378133.3_Missense_Mutation_p.R89Q|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R89Q	p.R89Q	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	266	+								O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.266G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	15.08	2.728054	0.48833	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.34859	1.34;1.34;1.34	4.31	3.44	0.39384	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.205916	0.24267	U	0.040029	T	0.58949	0.2158	M	0.91872	3.25	0.21719	N	0.999571	D;D;D	0.65815	0.995;0.984;0.982	P;P;P	0.59012	0.85;0.697;0.766	T	0.55554	-0.8123	10	0.87932	D	0	.	7.7599	0.28946	0.0846:0.0:0.7556:0.1598	.	89;89;89	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	Q	89	ENSP00000420840:R89Q;ENSP00000378129:R89Q;ENSP00000367373:R89Q	ENSP00000367373:R89Q	R	+	2	0	PCDHA1	140146325	0.792000	0.28813	1.000000	0.80357	0.329000	0.28539	1.737000	0.38197	0.947000	0.37659	-0.143000	0.13931	CGG		0.582	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		4	152	0	0	0	1	0	4	152				
N4BP2L2	10443	broad.mit.edu	37	13	33018126	33018126	+	Missense_Mutation	SNP	G	G	T	rs376388849		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr13:33018126G>T	ENST00000504114.1	-	6	594	c.503C>A	c.(502-504)cCg>cAg	p.P168Q	N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P183Q|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.P168Q			Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0					negative regulation of hematopoietic stem cell differentiation (GO:1902037)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hematopoietic stem cell proliferation (GO:1902035)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|RNA polymerase II transcription corepressor activity (GO:0001106)			kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		CTGATCTCCCGGTGTAAGATC	0.383																																						ENST00000357505.6																			0				kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16						c.(502-504)cCg>cAg		NEDD4 binding protein 2-like 2							57.0	52.0	53.0					13																	33018126		1849	4092	5941	SO:0001583	missense	10443							g.chr13:33018126G>T	U50532	CCDS9346.1, CCDS45024.1, CCDS61307.1	13q13.1	2010-12-02			ENSG00000244754	ENSG00000244754			26916	protein-coding gene	gene with protein product	"""phosphonoformate immuno-associated protein 5"""	615788				8812419	Standard	NM_014887		Approved	CG005, PFAAP5	uc010abe.1	Q92802	OTTHUMG00000016700	ENST00000504114.1:c.503C>A	13.37:g.33018126G>T	ENSP00000427477:p.Pro168Gln					N4BP2L2_ENST00000504114.1_Missense_Mutation_p.P168Q|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P183Q|N4BP2L2_ENST00000446957.2_Intron	p.P168Q	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)	7	607	-		Lung SC(185;0.0262)	179					A3KME8	Missense_Mutation	SNP	ENST00000504114.1	37	c.503C>A		.	.	.	.	.	.	.	.	.	.	G	13.87	2.366664	0.41902	.	.	ENSG00000139617;ENSG00000139617;ENSG00000244754;ENSG00000244754;ENSG00000244754;ENSG00000244754	ENST00000380121;ENST00000503296;ENST00000504114;ENST00000357505;ENST00000399396;ENST00000505213	T	0.59638	0.25	4.7	4.7	0.59300	.	0.444437	0.21233	N	0.077943	T	0.71333	0.3327	L	0.53249	1.67	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.77004	0.98;0.98;0.989;0.989	T	0.64296	-0.6441	10	0.54805	T	0.06	-6.6242	15.4485	0.75253	0.0:0.0:1.0:0.0	.	168;183;66;66	B4DPY1;Q92802-3;Q96KV2;Q9Y3H6	.;.;.;.	Q	66;95;168;168;183;612	ENSP00000423362:P612Q	ENSP00000350104:P168Q	P	-	2	0	N4BP2L2;RP11-298P3.4	31916126	0.096000	0.21769	0.013000	0.15412	0.231000	0.25187	2.224000	0.42945	2.119000	0.64992	0.655000	0.94253	CCG		0.383	N4BP2L2-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000361380.1	NM_014887		3	16	1	0	0.150653	1	0.150653	3	16				
KLHL22	84861	broad.mit.edu	37	22	20825725	20825725	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr22:20825725C>T	ENST00000328879.4	-	3	461	c.305G>A	c.(304-306)tGc>tAc	p.C102Y	KLHL22_ENST00000440659.2_Intron	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	102	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TAGGATTTGGCACATAGCATT	0.502																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(304-306)tGc>tAc		kelch-like family member 22							173.0	151.0	158.0					22																	20825725		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20825725C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.305G>A	22.37:g.20825725C>T	ENSP00000331682:p.Cys102Tyr					KLHL22_ENST00000440659.2_Intron	p.C102Y	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		3	461	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	102			BTB.		A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.305G>A	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406411	0.62399	.	.	ENSG00000099910	ENST00000328879;ENST00000451553;ENST00000444967;ENST00000458248;ENST00000443285;ENST00000431430	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.3	5.3	0.74995	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.195791	0.53938	D	0.000048	T	0.68044	0.2958	L	0.34521	1.04	0.80722	D	1	D	0.56746	0.977	P	0.53224	0.721	T	0.71695	-0.4515	10	0.66056	D	0.02	.	16.4537	0.84003	0.0:1.0:0.0:0.0	.	102	Q53GT1	KLH22_HUMAN	Y	102;25;134;102;136;102	ENSP00000331682:C102Y;ENSP00000400095:C25Y;ENSP00000403999:C134Y;ENSP00000398616:C102Y;ENSP00000397882:C136Y;ENSP00000409092:C102Y	ENSP00000331682:C102Y	C	-	2	0	KLHL22	19155725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.990000	0.49401	2.481000	0.83766	0.650000	0.86243	TGC		0.502	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		15	85	0	0	0	1	0	15	85				
ASIC5	51802	broad.mit.edu	37	4	156784847	156784847	+	Nonsense_Mutation	SNP	G	G	A	rs138414327		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr4:156784847G>A	ENST00000537611.2	-	2	146	c.100C>T	c.(100-102)Cga>Tga	p.R34*	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	34					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										AACTTCTTTCGCTCAGTGGGA	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		17437	0.001		0.0	False		,,,				2504	0.0					ENST00000537611.2																			0											c.(100-102)Cga>Tga		acid-sensing (proton-gated) ion channel family member 5		G	stop/ARG	0,4406		0,0,2203	116.0	115.0	115.0		100	2.4	0.1	4	dbSNP_134	115	4,8596	3.7+/-12.6	0,4,4296	yes	stop-gained	ACCN5	NM_017419.2		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		34/506	156784847	4,13002	2203	4300	6503	SO:0001587	stop_gained	51802					integral to membrane|plasma membrane		g.chr4:156784847G>A	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.100C>T	4.37:g.156784847G>A	ENSP00000442477:p.Arg34*					TDO2_ENST00000506181.1_Intron	p.R34*	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN			2	146	-			34						Nonsense_Mutation	SNP	ENST00000537611.2	37	c.100C>T	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705381	0.30232	0.0	4.65E-4	ENSG00000256394	ENST00000537611	.	.	.	4.34	2.39	0.29439	.	0.123991	0.31797	N	0.007052	.	.	.	.	.	.	0.27276	N	0.958229	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-10.2469	10.8952	0.47019	0.0:0.0:0.406:0.594	.	.	.	.	X	34	.	ENSP00000264432:R34X	R	-	1	2	ACCN5	157004297	0.921000	0.31238	0.098000	0.21074	0.020000	0.10135	1.266000	0.33039	1.122000	0.41944	-0.188000	0.12872	CGA		0.403	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1			11	34	0	0	0	1	0	11	34				
RNF43	54894	broad.mit.edu	37	17	56492928	56492928	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:56492928C>T	ENST00000584437.1	-	1	1966	c.11G>A	c.(10-12)gGc>gAc	p.G4D	RNF43_ENST00000577716.1_Missense_Mutation_p.G4D|RNF43_ENST00000407977.2_Missense_Mutation_p.G4D|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Missense_Mutation_p.G4D|RNF43_ENST00000580014.1_5'Flank|RNF43_ENST00000583753.1_Missense_Mutation_p.G4D			Q68DV7	RNF43_HUMAN	ring finger protein 43	4					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCTGGTGGCCACCACTCAT	0.572																																						ENST00000584437.1																			0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(10-12)gGc>gAc		ring finger protein 43							29.0	27.0	28.0					17																	56492928		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492928C>T		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.11G>A	17.37:g.56492928C>T	ENSP00000463069:p.Gly4Asp					RNF43_ENST00000583753.1_Missense_Mutation_p.G4D|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Missense_Mutation_p.G4D|RNF43_ENST00000407977.2_Missense_Mutation_p.G4D|RNF43_ENST00000577716.1_Missense_Mutation_p.G4D	p.G4D			Q68DV7	RNF43_HUMAN			1	1966	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		4					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.11G>A	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364965	0.61513	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.26223	2.45;1.75	5.69	5.69	0.88448	.	0.286703	0.30302	N	0.009939	T	0.30978	0.0782	N	0.14661	0.345	0.43199	D	0.995046	D;D	0.64830	0.994;0.99	P;P	0.57283	0.817;0.661	T	0.10200	-1.0640	10	0.87932	D	0	0.427	17.3358	0.87280	0.0:1.0:0.0:0.0	.	4;4	Q68DV7-2;Q68DV7	.;RNF43_HUMAN	D	4	ENSP00000385328:G4D;ENSP00000441969:G4D	ENSP00000385328:G4D	G	-	2	0	RNF43	53847927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.263000	0.51546	2.840000	0.97914	0.655000	0.94253	GGC		0.572	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		58	1	0	0	0	1	0	58	1				
MTBP	27085	broad.mit.edu	37	8	121531025	121531025	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr8:121531025C>T	ENST00000305949.1	+	20	2623	c.2578C>T	c.(2578-2580)Cgt>Tgt	p.R860C		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	860	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ATGCAGCCAGCGTCTCTTTGA	0.353																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2578-2580)Cgt>Tgt		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							140.0	130.0	133.0					8																	121531025		2203	4300	6503	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121531025C>T		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2578C>T	8.37:g.121531025C>T	ENSP00000303398:p.Arg860Cys						p.R860C	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		20	2623	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		860			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.2578C>T	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871706	0.72065	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.8	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.77818	0.4187	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79694	-0.1696	9	0.87932	D	0	-16.6482	13.6319	0.62200	0.4201:0.5799:0.0:0.0	.	860	Q96DY7	MTBP_HUMAN	C	860	.	ENSP00000303398:R860C	R	+	1	0	MTBP	121600206	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	2.183000	0.42565	0.724000	0.32296	0.650000	0.86243	CGT		0.353	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		37	14	0	0	0	1	0	37	14				
WAC	51322	broad.mit.edu	37	10	28822965	28822965	+	Splice_Site	SNP	T	T	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr10:28822965T>A	ENST00000354911.4	+	2	239		c.e2+2		WAC_ENST00000532233.1_Splice_Site|WAC_ENST00000347934.4_Splice_Site|WAC-AS1_ENST00000527986.1_RNA|WAC_ENST00000428935.1_Splice_Site|WAC-AS1_ENST00000528337.1_RNA|WAC_ENST00000375646.1_Splice_Site|WAC_ENST00000375664.4_Splice_Site	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CCTTACCAGGTACCAGCCGAG	0.662																																						ENST00000375664.3																			0				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						c.e2+2		WW domain containing adaptor with coiled-coil							23.0	28.0	27.0					10																	28822965		2200	4294	6494	SO:0001630	splice_region_variant	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28822965T>A	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.78+2T>A	10.37:g.28822965T>A						WAC_ENST00000532233.1_Splice_Site|WAC_ENST00000354911.4_Splice_Site|WAC_ENST00000347934.4_Splice_Site|WAC_ENST00000375646.1_Splice_Site|WAC_ENST00000428935.1_Splice_Site				Q9BTA9	WAC_HUMAN			2	552	+								A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Splice_Site	SNP	ENST00000354911.4	37		CCDS7159.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155165	0.78114	.	.	ENSG00000095787	ENST00000347934;ENST00000354911	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2024	0.59776	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	WAC	28862971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.206000	0.58473	2.045000	0.60652	0.533000	0.62120	.		0.662	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264	Intron	8	52	0	0	0	1	0	8	52				
MT-ND4	4538	broad.mit.edu	37	M	11426	11426	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chrM:11426G>A	ENST00000361381.2	+	1	667	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TG_ENST00000387429.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	223					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CCCATGTCGAAGCCCCCATCG	0.448																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(667-669)Gcc>Acc		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001583	missense	4538							g.chrM:11426G>A			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.667G>A	M.37:g.11426G>A	ENSP00000354961:p.Ala223Thr						p.223_223insT							1	667	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.667G>A																																																																																					0.448	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		100	2	0	0	0	1	0	100	2				
SRP68	6730	broad.mit.edu	37	17	74046599	74046599	+	Silent	SNP	G	G	A	rs148814451	byFrequency	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:74046599G>A	ENST00000307877.2	-	9	1148	c.987C>T	c.(985-987)agC>agT	p.S329S	SRP68_ENST00000542536.2_5'UTR|SRP68_ENST00000355113.5_Silent_p.S228S|SRP68_ENST00000539137.1_Silent_p.S291S|SRP68_ENST00000602720.1_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	329					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TAGTTTCTTCGCTTTCAGCCT	0.517													G|||	11	0.00219649	0.0083	0.0	5008	,	,		17726	0.0		0.0	False		,,,				2504	0.0					ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(985-987)agC>agT		signal recognition particle 68kDa		G		32,4374	36.8+/-68.6	0,32,2171	94.0	80.0	85.0		987	-5.8	0.9	17	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous	SRP68	NM_014230.2		0,32,6471	AA,AG,GG		0.0,0.7263,0.246		329/628	74046599	32,12974	2203	4300	6503	SO:0001819	synonymous_variant	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74046599G>A	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.987C>T	17.37:g.74046599G>A						SRP68_ENST00000539137.1_Silent_p.S291S|SRP68_ENST00000355113.5_Silent_p.S228S|SRP68_ENST00000602720.1_5'UTR|SRP68_ENST00000542536.2_5'UTR	p.S329S	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			9	1148	-			329					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Silent	SNP	ENST00000307877.2	37	c.987C>T	CCDS11738.1																																																																																				0.517	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		81	0	0	0	0	1	0	81	0				
COL6A6	131873	broad.mit.edu	37	3	130383937	130383937	+	Missense_Mutation	SNP	G	G	A	rs202169366		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr3:130383937G>A	ENST00000358511.6	+	35	6624	c.6593G>A	c.(6592-6594)cGa>cAa	p.R2198Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R2198Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2198	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGACCATTCCGAAGGTACTGT	0.413																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(6592-6594)cGa>cAa		collagen, type VI, alpha 6							60.0	55.0	57.0					3																	130383937		1852	4091	5943	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130383937G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6593G>A	3.37:g.130383937G>A	ENSP00000351310:p.Arg2198Gln					COL6A6_ENST00000453409.2_Missense_Mutation_p.R2198Q	p.R2198Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			35	6624	+			2198			Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.6593G>A	CCDS46911.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.44	1.350385	0.24512	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.89343	-2.48;-2.5	4.83	-7.64	0.01286	.	.	.	.	.	T	0.74831	0.3768	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.005	B;B	0.06405	0.001;0.002	T	0.57452	-0.7809	9	0.20046	T	0.44	.	16.5947	0.84792	0.8274:0.0:0.1726:0.0	.	2198;2198	A6NMZ7;F8W6Y7	CO6A6_HUMAN;.	Q	2198	ENSP00000351310:R2198Q;ENSP00000399236:R2198Q	ENSP00000351310:R2198Q	R	+	2	0	COL6A6	131866627	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.350000	0.02624	-1.785000	0.01271	-1.022000	0.02435	CGA		0.413	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		4	5	0	0	0	1	0	4	5				
FBXW7	55294	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		99	Substitution - Missense(98)|Unknown(1)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1393-1395)Cgt>Tgt		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							260.0	223.0	235.0					4																	153249385		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249385G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys					FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C	p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2622	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	465		R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).			B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1393C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			58	32	0	0	0	1	0	58	32				
FOXK2	3607	broad.mit.edu	37	17	80545021	80545021	+	Silent	SNP	G	G	T	rs139592674		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:80545021G>T	ENST00000335255.5	+	8	1833	c.1659G>T	c.(1657-1659)ccG>ccT	p.P553P	RP13-638C3.3_ENST00000575085.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	553					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AGACCACCCCGGTCCAGACGG	0.532																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(1657-1659)ccG>ccT		forkhead box K2							100.0	83.0	89.0					17																	80545021		2203	4300	6503	SO:0001819	synonymous_variant	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80545021G>T	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.1659G>T	17.37:g.80545021G>T							p.P553P	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		8	1833	+	Breast(20;0.00106)|all_neural(118;0.0952)		553					A6NEP5|Q13622|Q13623|Q13624	Silent	SNP	ENST00000335255.5	37	c.1659G>T	CCDS11813.1																																																																																				0.532	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		10	103	1	0	3.07112e-06	1	3.17702e-06	10	103				
ZNF716	441234	broad.mit.edu	37	7	57528634	57528634	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:57528634C>T	ENST00000420713.1	+	4	579	c.467C>T	c.(466-468)aCa>aTa	p.T156I		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	156					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(1)|kidney(1)|lung(20)|ovary(2)	24						CAAAACAAAACATTTCAGACT	0.323																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(466-468)aCa>aTa		zinc finger protein 716							160.0	148.0	152.0					7																	57528634		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528634C>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.467C>T	7.37:g.57528634C>T	ENSP00000394248:p.Thr156Ile						p.T156I	NM_001159279.1	NP_001152751.1					4	579	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.467C>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.250112	0.00022	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.05258	3.47	0.195	-0.39	0.12450	.	.	.	.	.	T	0.01661	0.0053	N	0.01209	-0.955	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39742	-0.9599	9	0.02654	T	1	.	5.3779	0.16176	0.0:0.2898:0.0:0.7102	.	144	A6NP11	ZN716_HUMAN	I	156;144	ENSP00000394248:T156I	ENSP00000387687:T144I	T	+	2	0	ZNF716	57532576	0.135000	0.22499	0.077000	0.20336	0.075000	0.17131	0.746000	0.26275	-2.512000	0.00503	-2.534000	0.00181	ACA		0.323	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		4	24	0	0	0	1	0	4	24				
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515																																						ENST00000388718.5																			1	Deletion - Frameshift(1)	p.H1901fs*30(1)	large_intestine(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5701-5706)cagcfs		filaggrin family member 2																																				SO:0001589	frameshift_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152324558_152324559delTG	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5703_5704delCA	1.37:g.152324566_152324567delTG	ENSP00000373370:p.His1901fs					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.HS1901fs	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5775_5776	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1901					Q9H4U1	Frame_Shift_Del	DEL	ENST00000388718.5	37	c.5703_5704delCA	CCDS30861.1																																																																																				0.515	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	306						7	306	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400639	195400641	+	lincRNA	DEL	GTG	GTG	-	rs145880653|rs147886708		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr3:195400639_195400641delGTG	ENST00000445430.1	+	0	1284									long intergenic non-protein coding RNA 969																		AGGTGGGCTTGTGGAGGAATGGG	0.552																																						ENST00000445430.1																			0																																																			0							g.chr3:195400639_195400641delGTG	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400639_195400641delGTG														0	1284	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.552	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	4						3	4	---	---	---	---
USP49	25862	broad.mit.edu	37	6	41774205	41774205	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr6:41774205delG	ENST00000394253.3	-	3	846	c.517delC	c.(517-519)cggfs	p.R173fs	USP49_ENST00000373009.3_Frame_Shift_Del_p.R173fs|USP49_ENST00000373010.1_Frame_Shift_Del_p.R173fs|USP49_ENST00000297229.2_Frame_Shift_Del_p.R173fs|USP49_ENST00000373006.1_Frame_Shift_Del_p.R173fs			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	173					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTCCTGCCGCCGCTGCTCC	0.731																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(517-519)ggfs		ubiquitin specific peptidase 49							9.0	10.0	10.0					6																	41774205		2114	4154	6268	SO:0001589	frameshift_variant	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774205delG	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.517delC	6.37:g.41774205delG	ENSP00000377797:p.Arg173fs					USP49_ENST00000373009.3_Frame_Shift_Del_p.R173fs|USP49_ENST00000373006.1_Frame_Shift_Del_p.R173fs|USP49_ENST00000373010.1_Frame_Shift_Del_p.R173fs|USP49_ENST00000297229.2_Frame_Shift_Del_p.R173fs	p.R173fs			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	846	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		173					Q5T3D9|Q5T3E0|Q96CK4	Frame_Shift_Del	DEL	ENST00000394253.3	37	c.517delC																																																																																					0.731	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		11	10						11	10	---	---	---	---
WIPF3	644150	broad.mit.edu	37	7	29923822	29923822	+	Frame_Shift_Del	DEL	C	C	-	rs565199901		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:29923822delC	ENST00000409290.1	+	4	712	c.712delC	c.(712-714)cccfs	p.P239fs	WIPF3_ENST00000242140.5_Frame_Shift_Del_p.P239fs|WIPF3_ENST00000409123.1_Frame_Shift_Del_p.P239fs	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	239	Poly-Pro.				cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						acccccgctgcccccggcctc	0.706																																						ENST00000409290.1																			0				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						c.(712-714)ccfs		WAS/WASL interacting protein family, member 3							2.0	2.0	2.0					7																	29923822		1322	3199	4521	SO:0001589	frameshift_variant	644150							g.chr7:29923822delC	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.712delC	7.37:g.29923822delC	ENSP00000386878:p.Pro239fs					WIPF3_ENST00000242140.5_Frame_Shift_Del_p.P239fs|WIPF3_ENST00000409123.1_Frame_Shift_Del_p.P239fs	p.P239fs	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN			4	712	+			239					B8ZZV2	Frame_Shift_Del	DEL	ENST00000409290.1	37	c.712delC	CCDS56472.1																																																																																				0.706	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			2	4						2	4	---	---	---	---
RP11-672F9.1	0	broad.mit.edu	37	10	38562340	38562341	+	lincRNA	INS	-	-	TA	rs113250989|rs201865004	byFrequency	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr10:38562340_38562341insTA	ENST00000450980.1	+	0	144																											ctctctctccctATATATATAT	0.52														2277	0.454673	0.4546	0.4827	5008	,	,		26290	0.4474		0.4404	False		,,,				2504	0.4571					ENST00000450980.1																			0																																																			0							g.chr10:38562340_38562341insTA																													10.37:g.38562349_38562350dupTA														0	144	+									RNA	INS	ENST00000450980.1	37																																																																																						0.520	RP11-672F9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047630.1			3	3						3	3	---	---	---	---
CBL	867	broad.mit.edu	37	11	119077179	119077179	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:119077179delG	ENST00000264033.4	+	1	428	c.52delG	c.(52-54)gggfs	p.G19fs		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	19	Sufficient for interaction with EPHB1.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CAGCGGCTCCGGGGGCTCGGG	0.736			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													ENST00000264033.4				"""Dom, Rec"""	yes		11	11q23.3	867	"""T, Mis S, O"""	Cas-Br-M (murine) ecotropic retroviral transforming			L	MLL		"""AML, JMML, MDS"""		0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251						c.(52-54)ggfs		Cbl proto-oncogene, E3 ubiquitin protein ligase							5.0	8.0	7.0					11																	119077179		2089	4120	6209	SO:0001589	frameshift_variant	867	Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:119077179delG	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"""RING-type (C3HC4) zinc fingers"""	1541	protein-coding gene	gene with protein product	"""oncogene CBL2"""	165360	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence"""	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.52delG	11.37:g.119077179delG	ENSP00000264033:p.Gly19fs						p.G19fs	NM_005188.3	NP_005179.2	P22681	CBL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)	1	428	+		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	19					A3KMP8	Frame_Shift_Del	DEL	ENST00000264033.4	37	c.52delG	CCDS8418.1																																																																																				0.736	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388219.4	NM_005188		2	4						2	4	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32929088	32929088	+	Frame_Shift_Del	DEL	G	G	-	rs570826002		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr13:32929088delG	ENST00000380152.3	+	14	7331	c.7098delG	c.(7096-7098)ctgfs	p.L2366fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.L2366fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2366	Interaction with FANCD2.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATGAACATCTGACTTTGGAAA	0.358			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(7096-7098)ctfs	Homologous recombination	breast cancer 2, early onset							93.0	95.0	94.0					13																	32929088		2203	4300	6503	SO:0001589	frameshift_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32929088delG	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.7098delG	13.37:g.32929088delG	ENSP00000369497:p.Leu2366fs	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Frame_Shift_Del_p.L2366fs	p.L2366fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	14	7325	+		Lung SC(185;0.0262)	2366			Interaction with FANCD2.		O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.7098delG	CCDS9344.1																																																																																				0.358	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		46	49						46	49	---	---	---	---
AP005530.1	0	broad.mit.edu	37	18	11997	11998	+	lincRNA	INS	-	-	G	rs370440306		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr18:11997_11998insG	ENST00000572573.1	+	0	405				AP005530.2_ENST00000572608.1_lincRNA																							AGCGCGCTCCCGGGGGCAGAGG	0.738																																						ENST00000572573.1																			0																																																			0							g.chr18:11997_11998insG																													18.37:g.12002_12002dupG														0	405	+									RNA	INS	ENST00000572573.1	37																																																																																						0.738	AP005530.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000439669.1			5	3						5	3	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11071749	11071750	+	RNA	INS	-	-	ACTT	rs377751673|rs148241564|rs56745243		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr21:11071749_11071750insACTT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gctcagtgataacttaaccacc	0.485																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11071749_11071750insACTT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11071750_11071753dupACTT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.485	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	4						3	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11079693	11079693	+	RNA	DEL	T	T	-			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr21:11079693delT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCAATGCCCtttttttaatt	0.393																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11079693delT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11079693delT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.393	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11092870	11092871	+	RNA	INS	-	-	T	rs58400598		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr21:11092870_11092871insT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACATAAATTTAAATGCTGGATT	0.376																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11092870_11092871insT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11092870_11092871insT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.376	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	5						3	5	---	---	---	---
