#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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		5	10	0	0	0	1	0	5	10				
SSFA2	6744	broad.mit.edu	37	2	182780777	182780777	+	Missense_Mutation	SNP	C	C	G	rs540962657		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:182780777C>G	ENST00000431877.2	+	11	2589	c.2410C>G	c.(2410-2412)Cca>Gca	p.P804A	SSFA2_ENST00000409001.1_Missense_Mutation_p.P804A|SSFA2_ENST00000428267.2_Missense_Mutation_p.P651A|SSFA2_ENST00000409136.1_Missense_Mutation_p.P313A|SSFA2_ENST00000320370.7_Missense_Mutation_p.P804A	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	804						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTTCATCTCTCCATCATCTGT	0.502																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2410-2412)Cca>Gca		sperm specific antigen 2							58.0	61.0	60.0					2																	182780777		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182780777C>G	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2410C>G	2.37:g.182780777C>G	ENSP00000388731:p.Pro804Ala					SSFA2_ENST00000320370.7_Missense_Mutation_p.P804A|SSFA2_ENST00000428267.2_Missense_Mutation_p.P651A|SSFA2_ENST00000409136.1_Missense_Mutation_p.P313A|SSFA2_ENST00000409001.1_Missense_Mutation_p.P804A	p.P804A	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2589	+			804					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2410C>G	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	C	9.362	1.068212	0.20067	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.22336	2.2;1.96;2.19;2.18;1.98	5.63	3.82	0.43975	.	0.360553	0.28268	N	0.015962	T	0.19167	0.0460	M	0.69823	2.125	0.39932	D	0.974304	P;P;P;P;P	0.45531	0.767;0.767;0.767;0.767;0.86	B;B;B;B;B	0.41271	0.269;0.269;0.269;0.269;0.352	T	0.20974	-1.0259	10	0.05721	T	0.95	-6.1297	7.9328	0.29912	0.1229:0.6937:0.1184:0.065	.	651;313;804;804;804	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	A	804;804;804;651;313	ENSP00000388731:P804A;ENSP00000314669:P804A;ENSP00000387319:P804A;ENSP00000409867:P651A;ENSP00000386916:P313A	ENSP00000314669:P804A	P	+	1	0	SSFA2	182489022	0.948000	0.32251	0.817000	0.32601	0.273000	0.26683	1.752000	0.38349	0.844000	0.35094	-0.176000	0.13171	CCA		0.502	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		3	56	0	0	0	1	0	3	56				
ART1	417	broad.mit.edu	37	11	3681544	3681544	+	Silent	SNP	C	C	T			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr11:3681544C>T	ENST00000250693.1	+	3	896	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	265					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		CCCGCATCTACCTCCGAGCCC	0.607																																						ENST00000250693.1																			0				endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8						c.(793-795)taC>taT		ADP-ribosyltransferase 1	Becaplermin(DB00102)						44.0	48.0	47.0					11																	3681544		2200	4298	6498	SO:0001819	synonymous_variant	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681544C>T	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.795C>T	11.37:g.3681544C>T							p.Y265Y	NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	896	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	265					Q6NTD2|Q96KT9	Silent	SNP	ENST00000250693.1	37	c.795C>T	CCDS7744.1																																																																																				0.607	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		7	86	0	0	0	1	0	7	86				
NEB	4703	broad.mit.edu	37	2	152534214	152534214	+	Silent	SNP	G	G	A	rs74320183	byFrequency	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:152534214G>A	ENST00000172853.10	-	34	3786	c.3639C>T	c.(3637-3639)gtC>gtT	p.V1213V	NEB_ENST00000603639.1_Silent_p.V1213V|NEB_ENST00000409198.1_Silent_p.V1213V|NEB_ENST00000397345.3_Silent_p.V1213V|NEB_ENST00000427231.2_Silent_p.V1213V|NEB_ENST00000604864.1_Silent_p.V1213V			P20929	NEBU_HUMAN	nebulin	1213					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAACTTTTTCGACGTCGAGAC	0.458													G|||	5	0.000998403	0.003	0.0014	5008	,	,		16446	0.0		0.0	False		,,,				2504	0.0					ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(3637-3639)gtC>gtT		nebulin		G	,,	13,3797		0,13,1892	225.0	214.0	218.0		3639,3639,3639	-5.8	0.0	2	dbSNP_133	218	0,8242		0,0,4121	no	coding-synonymous,coding-synonymous,coding-synonymous	NEB	NM_001164507.1,NM_001164508.1,NM_004543.4	,,	0,13,6013	AA,AG,GG		0.0,0.3412,0.1079	,,	1213/8526,1213/8526,1213/6670	152534214	13,12039	1905	4121	6026	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152534214G>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.3639C>T	2.37:g.152534214G>A						NEB_ENST00000604864.1_Silent_p.V1213V|NEB_ENST00000397345.3_Silent_p.V1213V|NEB_ENST00000603639.1_Silent_p.V1213V|NEB_ENST00000172853.10_Silent_p.V1213V|NEB_ENST00000409198.1_Silent_p.V1213V	p.V1213V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	34	3841	-			1213					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.3639C>T																																																																																					0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		26	208	0	0	0	1	0	26	208				
KMT2D	8085	broad.mit.edu	37	12	49425070	49425070	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr12:49425070T>G	ENST00000301067.7	-	39	13417	c.13418A>C	c.(13417-13419)cAa>cCa	p.Q4473P		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4473					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGTGCTGAGTTGCACATTCTT	0.617																																						ENST00000301067.7																			0											c.(13417-13419)cAa>cCa		lysine (K)-specific methyltransferase 2D							71.0	76.0	74.0					12																	49425070		2062	4208	6270	SO:0001583	missense	8085							g.chr12:49425070T>G	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13418A>C	12.37:g.49425070T>G	ENSP00000301067:p.Gln4473Pro						p.Q4473P	NM_003482.3	NP_003473.3					39	13417	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.13418A>C	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	8.691	0.907334	0.17833	.	.	ENSG00000167548	ENST00000301067	T	0.80994	-1.44	5.57	5.57	0.84162	.	0.000000	0.36972	N	0.002302	T	0.77177	0.4092	N	0.24115	0.695	0.49915	D	0.999839	D	0.67145	0.996	P	0.56788	0.806	T	0.79140	-0.1926	10	0.87932	D	0	.	6.9487	0.24532	0.1468:0.0:0.1529:0.7002	.	4473	O14686	MLL2_HUMAN	P	4473	ENSP00000301067:Q4473P	ENSP00000301067:Q4473P	Q	-	2	0	MLL2	47711337	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.357000	0.59436	2.254000	0.74563	0.533000	0.62120	CAA		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			25	105	0	0	0	1	0	25	105				
WNK2	65268	broad.mit.edu	37	9	96051424	96051424	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr9:96051424C>A	ENST00000297954.4	+	20	4499	c.4499C>A	c.(4498-4500)gCc>gAc	p.A1500D	WNK2_ENST00000395477.2_Missense_Mutation_p.A1463D|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A1075D|WNK2_ENST00000349097.3_Missense_Mutation_p.A1112D|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1500					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGAGGCTGCCTCAACCAGG	0.687																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(4498-4500)gCc>gAc		WNK lysine deficient protein kinase 2							17.0	18.0	18.0					9																	96051424		2202	4296	6498	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051424C>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4499C>A	9.37:g.96051424C>A	ENSP00000297954:p.Ala1500Asp					WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.A1463D|WNK2_ENST00000349097.3_Missense_Mutation_p.A1112D|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A1075D	p.A1500D			Q9Y3S1	WNK2_HUMAN			20	4499	+			1500					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.4499C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	8.413|8.413|8.413	0.844637|0.844637|0.844637	0.16963|0.16963|0.16963	.|.|.	.|.|.	ENSG00000165238|ENSG00000165238|ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277|ENST00000411624|ENST00000432730;ENST00000448251	T;T;T;T|.|.	0.70164|.|.	-0.46;-0.44;0.13;0.15|.|.	5.46|5.46|5.46	0.159|0.159|0.159	0.14968|0.14968|0.14968	.|.|.	1.228420|.|.	0.05135|.|.	N|.|.	0.493223|.|.	T|.|T	0.15478|.|0.15478	0.0373|.|0.0373	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.19300|0.19300|0.19300	N|N|N	0.999979|0.999979|0.999979	D;D;B;P;P|.|.	0.69078|.|.	0.997;0.995;0.09;0.944;0.956|.|.	D;P;B;P;P|.|.	0.64410|.|.	0.925;0.844;0.021;0.546;0.527|.|.	T|.|T	0.28106|.|0.28106	-1.0054|.|-1.0054	10|.|5	0.22706|.|.	T|.|.	0.39|.|.	.|.|.	5.0336|5.0336|5.0336	0.14423|0.14423|0.14423	0.0:0.4212:0.2656:0.3132|0.0:0.4212:0.2656:0.3132|0.0:0.4212:0.2656:0.3132	.|.|.	1463;1458;1066;1463;1500|.|.	Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1|.|.	.;.;.;.;WNK2_HUMAN|.|.	D|X|T	1500;1463;1112;1075|1066|1459;260	ENSP00000297954:A1500D;ENSP00000378860:A1463D;ENSP00000297876:A1112D;ENSP00000411181:A1075D|.|.	ENSP00000297954:A1500D|.|.	A|C|P	+|+|+	2|3|1	0|2|0	WNK2|WNK2|WNK2	95091245|95091245|95091245	0.000000|0.000000|0.000000	0.05858|0.05858|0.05858	0.031000|0.031000|0.031000	0.17742|0.17742|0.17742	0.066000|0.066000|0.066000	0.16364|0.16364|0.16364	-0.957000|-0.957000|-0.957000	0.03861|0.03861|0.03861	0.003000|0.003000|0.003000	0.14656|0.14656|0.14656	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCC|TGC|CCT		0.687	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		3	31	1	0	0.115264	1	0.115264	3	31				
SCN3A	6328	broad.mit.edu	37	2	166012411	166012411	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:166012411T>C	ENST00000360093.3	-	10	1525	c.1034A>G	c.(1033-1035)cAg>cGg	p.Q345R	SCN3A_ENST00000283254.7_Missense_Mutation_p.Q345R|SCN3A_ENST00000409101.3_Missense_Mutation_p.Q345R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	345					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTCTGGACACTGGCTATAAGA	0.408																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(1033-1035)cAg>cGg		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						120.0	115.0	117.0					2																	166012411		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166012411T>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1034A>G	2.37:g.166012411T>C	ENSP00000353206:p.Gln345Arg					SCN3A_ENST00000409101.3_Missense_Mutation_p.Q345R|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q345R	p.Q345R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			10	1525	-			345					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.1034A>G		.	.	.	.	.	.	.	.	.	.	T	13.68	2.308232	0.40895	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96168	-3.93;-3.92;-3.89;-3.77	5.56	5.56	0.83823	Ion transport (1);	0.534175	0.17499	N	0.172060	D	0.94328	0.8177	L	0.39633	1.23	0.80722	D	1	B;B;B;B;B	0.22003	0.0;0.063;0.051;0.051;0.0	B;B;B;B;B	0.36464	0.001;0.225;0.144;0.144;0.001	D	0.92024	0.5628	10	0.56958	D	0.05	.	15.6989	0.77528	0.0:0.0:0.0:1.0	.	345;345;345;345;345	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	R	345	ENSP00000353206:Q345R;ENSP00000283254:Q345R;ENSP00000386726:Q345R;ENSP00000403348:Q345R	ENSP00000283254:Q345R	Q	-	2	0	SCN3A	165720657	0.999000	0.42202	1.000000	0.80357	0.936000	0.57629	3.254000	0.51477	2.115000	0.64714	0.477000	0.44152	CAG		0.408	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		6	82	0	0	0	1	0	6	82				
FAM86DP	692099	broad.mit.edu	37	3	75475639	75475639	+	RNA	SNP	T	T	C			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr3:75475639T>C	ENST00000459803.1	-	0	890					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.H284R(1)									CTCTGGGTTGTGGACGGTAAA	0.662																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.H284R(1)	endometrium(1)																																																0							g.chr3:75475639T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475639T>C								NR_024241.1						0	890	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.662	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		4	146	0	0	0	1	0	4	146				
TRIOBP	11078	broad.mit.edu	37	22	38120965	38120965	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr22:38120965T>C	ENST00000406386.3	+	7	2657	c.2402T>C	c.(2401-2403)cTc>cCc	p.L801P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	801					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGGGACAATCTCAGAGCCTCC	0.537																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2401-2403)cTc>cCc		TRIO and F-actin binding protein							153.0	164.0	160.0					22																	38120965		1993	4169	6162	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120965T>C	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2402T>C	22.37:g.38120965T>C	ENSP00000384312:p.Leu801Pro					RP1-37E16.12_ENST00000455236.1_RNA	p.L801P	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2657	+	Melanoma(58;0.0574)		801					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2402T>C	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.377090	0.24857	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.21543	2.0	4.41	1.17	0.20885	.	.	.	.	.	T	0.05960	0.0155	N	0.00864	-1.135	0.25154	N	0.990407	B	0.02656	0.0	B	0.01281	0.0	T	0.38628	-0.9652	9	0.27785	T	0.31	.	6.4686	0.21995	0.0:0.6874:0.0:0.3126	.	801	Q9H2D6	TARA_HUMAN	P	801	ENSP00000384312:L801P	ENSP00000384312:L801P	L	+	2	0	TRIOBP	36450911	0.000000	0.05858	0.006000	0.13384	0.296000	0.27459	-0.508000	0.06344	0.151000	0.19162	-0.424000	0.05967	CTC		0.537	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	119	0	0	0	1	0	4	119				
IL22RA1	58985	broad.mit.edu	37	1	24460805	24460805	+	Missense_Mutation	SNP	G	G	C	rs551283023		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:24460805G>C	ENST00000270800.1	-	4	465	c.427C>G	c.(427-429)Ccc>Gcc	p.P143A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	143	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ATTGGCGTGGGGGTAGGATGA	0.522																																						ENST00000270800.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(427-429)Ccc>Gcc		interleukin 22 receptor, alpha 1							112.0	100.0	104.0					1																	24460805		2203	4300	6503	SO:0001583	missense	58985					integral to membrane	interferon receptor activity	g.chr1:24460805G>C	AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.427C>G	1.37:g.24460805G>C	ENSP00000270800:p.Pro143Ala						p.P143A	NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)	4	465	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	143			Fibronectin type-III 2.		A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	ENST00000270800.1	37	c.427C>G	CCDS247.1	.	.	.	.	.	.	.	.	.	.	G	4.107	0.017921	0.07959	.	.	ENSG00000142677	ENST00000270800	T	0.40756	1.02	4.98	1.51	0.23008	Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.974042	0.08465	N	0.941892	T	0.21590	0.0520	N	0.14661	0.345	0.09310	N	1	B;B	0.18166	0.026;0.003	B;B	0.20577	0.03;0.008	T	0.30504	-0.9976	10	0.13470	T	0.59	-0.4343	3.582	0.07957	0.1977:0.0:0.5598:0.2426	.	35;143	B4E2V9;Q8N6P7	.;I22R1_HUMAN	A	143	ENSP00000270800:P143A	ENSP00000270800:P143A	P	-	1	0	IL22RA1	24333392	0.000000	0.05858	0.352000	0.25734	0.513000	0.34164	0.172000	0.16704	0.368000	0.24481	0.561000	0.74099	CCC		0.522	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008412.1			12	48	0	0	0	1	0	12	48				
LOC101927648	101927648	broad.mit.edu	37	1	143403563	143403563	+	lincRNA	SNP	C	C	A	rs376564211		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:143403563C>A	ENST00000423249.1	-	0	59																											TTTCTTTGGCCACTTTGGCTG	0.453																																						ENST00000423249.1																			0																																																			0							g.chr1:143403563C>A																													1.37:g.143403563C>A														0	59	-									RNA	SNP	ENST00000423249.1	37																																																																																						0.453	RP11-435B5.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037552.1			4	13	1	0	3.59834e-05	1	3.93568e-05	4	13				
KIAA1109	84162	broad.mit.edu	37	4	123107220	123107220	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:123107220A>G	ENST00000264501.4	+	7	761	c.388A>G	c.(388-390)Aca>Gca	p.T130A	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T130A|KIAA1109_ENST00000455637.1_Missense_Mutation_p.T130A			Q2LD37	K1109_HUMAN	KIAA1109	130					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTATACATCACAGTCAATGA	0.333																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(388-390)Aca>Gca		KIAA1109							109.0	103.0	105.0					4																	123107220		1815	4078	5893	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123107220A>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.388A>G	4.37:g.123107220A>G	ENSP00000264501:p.Thr130Ala					KIAA1109_ENST00000388738.3_Missense_Mutation_p.T130A|KIAA1109_ENST00000455637.1_Missense_Mutation_p.T130A	p.T130A			Q2LD37	K1109_HUMAN			7	761	+			130					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.388A>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	15.96	2.988287	0.53934	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	D;D;D	0.93953	-3.32;-3.32;-3.32	5.19	5.19	0.71726	.	0.134270	0.27052	U	0.021167	D	0.88629	0.6488	L	0.29908	0.895	0.44439	D	0.997364	B	0.22003	0.063	B	0.25614	0.062	D	0.84567	0.0653	10	0.17369	T	0.5	.	15.0365	0.71751	1.0:0.0:0.0:0.0	.	130	Q2LD37	K1109_HUMAN	A	130	ENSP00000264501:T130A;ENSP00000373390:T130A;ENSP00000389925:T130A	ENSP00000264501:T130A	T	+	1	0	KIAA1109	123326670	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.282000	0.78630	1.963000	0.57068	0.383000	0.25322	ACA		0.333	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		16	56	0	0	0	1	0	16	56				
ETFDH	2110	broad.mit.edu	37	4	159603573	159603573	+	Silent	SNP	G	G	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:159603573G>A	ENST00000511912.1	+	3	734	c.402G>A	c.(400-402)aaG>aaA	p.K134K	ETFDH_ENST00000307738.5_Silent_p.K87K	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	134					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GGAAAGAGAAGGGGGTATGAA	0.388																																						ENST00000511912.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28						c.(400-402)aaG>aaA		electron-transferring-flavoprotein dehydrogenase							52.0	58.0	56.0					4																	159603573		2203	4300	6503	SO:0001819	synonymous_variant	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159603573G>A	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	ENST00000511912.1:c.402G>A	4.37:g.159603573G>A						ETFDH_ENST00000307738.5_Silent_p.K87K	p.K134K	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	3	734	+	all_hematologic(180;0.24)	Renal(120;0.0458)	134					B4E3R9|J3KND9|Q7Z347	Silent	SNP	ENST00000511912.1	37	c.402G>A	CCDS3800.1																																																																																				0.388	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2			21	55	0	0	0	1	0	21	55				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			19	30	0	0	0	1	0	19	30				
LINC00969	440993	broad.mit.edu	37	3	195400799	195400799	+	lincRNA	SNP	G	G	A	rs7635172		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr3:195400799G>A	ENST00000445430.1	+	0	1395									long intergenic non-protein coding RNA 969																		CAAACTCGCTGTTGGACCTGG	0.597																																						ENST00000445430.1																			0																																																			0							g.chr3:195400799G>A	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.195400799G>A														0	1395	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	48	0	0	0	1	0	5	48				
CALHM2	51063	broad.mit.edu	37	10	105209278	105209278	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr10:105209278G>A	ENST00000260743.5	-	3	944	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	CALHM2_ENST00000393235.1_Missense_Mutation_p.L141F|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Missense_Mutation_p.L141F|CALHM2_ENST00000494180.1_5'Flank	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	141					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTGGCCGTGAGTGAGGAAGGG	0.607																																						ENST00000393235.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						c.(421-423)Ctc>Ttc		calcium homeostasis modulator 2							77.0	68.0	71.0					10																	105209278		2203	4300	6503	SO:0001583	missense	51063					integral to membrane		g.chr10:105209278G>A	BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.421C>T	10.37:g.105209278G>A	ENSP00000260743:p.Leu141Phe					CALHM2_ENST00000260743.5_Missense_Mutation_p.L141F|CALHM2_ENST00000369788.3_Missense_Mutation_p.L141F	p.L141F			Q9HA72	CAHM2_HUMAN			3	1618	-			141					D3DR94|O95893|Q6ZUV9	Missense_Mutation	SNP	ENST00000260743.5	37	c.421C>T	CCDS7549.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991285	0.35131	.	.	ENSG00000138172	ENST00000369788;ENST00000260743;ENST00000393235	T;T;T	0.18016	2.24;2.24;2.24	5.31	5.31	0.75309	.	0.070349	0.64402	D	0.000017	T	0.10121	0.0248	N	0.12961	0.28	0.47584	D	0.999469	B;B;B	0.33448	0.412;0.197;0.037	B;B;B	0.32583	0.148;0.09;0.067	T	0.31138	-0.9954	10	0.19147	T	0.46	-43.6865	12.3379	0.55077	0.0775:0.0:0.9225:0.0	.	141;141;141	Q9HA72-2;Q9HA72-3;Q9HA72	.;.;CAHM2_HUMAN	F	141	ENSP00000358803:L141F;ENSP00000260743:L141F;ENSP00000376927:L141F	ENSP00000260743:L141F	L	-	1	0	CALHM2	105199268	1.000000	0.71417	0.971000	0.41717	0.506000	0.33950	3.651000	0.54431	2.474000	0.83562	0.561000	0.74099	CTC		0.607	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916		30	108	0	0	0	1	0	30	108				
TRPA1	8989	broad.mit.edu	37	8	72969169	72969169	+	Nonsense_Mutation	SNP	G	G	A	rs372339709	byFrequency	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr8:72969169G>A	ENST00000262209.4	-	10	1384	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	393					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATTCAGGTCGCAGATTTTTT	0.294													G|||	2	0.000399361	0.0008	0.0	5008	,	,		14327	0.0		0.0	False		,,,				2504	0.001					ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(1177-1179)Cga>Tga		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)	G	stop/ARG	0,4398		0,0,2199	39.0	41.0	40.0		1177	3.7	0.8	8		40	1,8581	1.2+/-3.3	0,1,4290	no	stop-gained	TRPA1	NM_007332.2		0,1,6489	AA,AG,GG		0.0117,0.0,0.0077		393/1120	72969169	1,12979	2199	4291	6490	SO:0001587	stop_gained	8989					integral to plasma membrane		g.chr8:72969169G>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1177C>T	8.37:g.72969169G>A	ENSP00000262209:p.Arg393*						p.R393*	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		10	1384	-			393					A6NIN6	Nonsense_Mutation	SNP	ENST00000262209.4	37	c.1177C>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857393	0.71834	0.0	1.17E-4	ENSG00000104321	ENST00000523582;ENST00000262209	.	.	.	5.69	3.72	0.42706	.	1.032170	0.07635	N	0.929366	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	1.3293	8.6932	0.34280	0.0851:0.0:0.6606:0.2543	.	.	.	.	X	245;393	.	ENSP00000262209:R393X	R	-	1	2	TRPA1	73131723	0.523000	0.26274	0.812000	0.32479	0.529000	0.34654	1.375000	0.34295	1.420000	0.47138	-0.237000	0.12165	CGA		0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		7	10	0	0	0	1	0	7	10				
PRG4	10216	broad.mit.edu	37	1	186276052	186276052	+	Missense_Mutation	SNP	A	A	C	rs542620960	byFrequency	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:186276052A>C	ENST00000445192.2	+	7	1246	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	PRG4_ENST00000367484.3_Missense_Mutation_p.T360P|PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T401P(4)|p.T400>?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.642													-|||	12	0.00239617	0.0083	0.0014	5008	,	,		8994	0.0		0.0	False		,,,				2504	0.0					ENST00000445192.2																			5	Substitution - Missense(4)|Complex(1)	p.T401P(4)|p.T400>?(1)	kidney(2)|prostate(1)|lung(1)|endometrium(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1201-1203)Acc>Ccc		proteoglycan 4							95.0	89.0	91.0					1																	186276052		2203	4298	6501	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276052A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1201A>C	1.37:g.186276052A>C	ENSP00000399679:p.Thr401Pro					PRG4_ENST00000367485.4_Missense_Mutation_p.T308P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367484.3_Missense_Mutation_p.T360P	p.T401P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1246	+			401			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1201A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	3.851	-0.031771	0.07543	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.05258	3.54;3.65;3.61;3.47;3.64	3.17	-6.34	0.01982	.	.	.	.	.	T	0.02649	0.0080	N	0.13140	0.3	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.46034	-0.9220	8	.	.	.	.	3.639	0.08160	0.4008:0.398:0.0956:0.1055	.	267;308;401;360	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	358;360;267;360;308;401	ENSP00000356456:T358P;ENSP00000356454:T360P;ENSP00000356453:T360P;ENSP00000356455:T308P;ENSP00000399679:T401P	.	T	+	1	0	PRG4	184542675	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.209000	0.09358	-1.096000	0.03046	-2.716000	0.00133	ACC		0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		9	162	0	0	0	1	0	9	162				
HTR1E	3354	broad.mit.edu	37	6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A	rs200719637		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr6:87725488G>A	ENST00000305344.5	+	2	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	146					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V146I(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATCCTTACCGTCTGGACCAT	0.582																																						ENST00000305344.4																			2	Substitution - Missense(2)	p.V146I(2)	large_intestine(1)|endometrium(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(436-438)Gtc>Atc		5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	Eletriptan(DB00216)						108.0	94.0	99.0					6																	87725488		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725488G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.436G>A	6.37:g.87725488G>A	ENSP00000307766:p.Val146Ile					HTR1E_ENST00000369584.1_Missense_Mutation_p.V146I	p.V146I	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1139	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	146					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.436G>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640966	0.67244	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.73152	-0.72;-0.72	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	U	0.000069	T	0.78477	0.4289	M	0.69358	2.11	0.44834	D	0.997845	D	0.76494	0.999	D	0.68483	0.958	T	0.82133	-0.0608	10	0.72032	D	0.01	.	16.6564	0.85229	0.0:0.0:1.0:0.0	.	146	P28566	5HT1E_HUMAN	I	146	ENSP00000307766:V146I;ENSP00000358597:V146I	ENSP00000307766:V146I	V	+	1	0	HTR1E	87782207	1.000000	0.71417	0.986000	0.45419	0.941000	0.58515	7.241000	0.78201	1.929000	0.55896	0.404000	0.27445	GTC		0.582	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		8	124	0	0	0	1	0	8	124				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			0							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		4	15	0	0	0	1	0	4	15				
ADAD1	132612	broad.mit.edu	37	4	123336539	123336539	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:123336539G>A	ENST00000296513.2	+	11	1440	c.1255G>A	c.(1255-1257)Ggg>Agg	p.G419R	ADAD1_ENST00000388725.2_Missense_Mutation_p.G401R|ADAD1_ENST00000388724.2_Missense_Mutation_p.G408R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	419	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTAGGTGATGGGAATTGCAG	0.348																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1255-1257)Ggg>Agg		adenosine deaminase domain containing 1 (testis-specific)							84.0	82.0	83.0					4																	123336539		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123336539G>A	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1255G>A	4.37:g.123336539G>A	ENSP00000296513:p.Gly419Arg					ADAD1_ENST00000388724.2_Missense_Mutation_p.G408R|ADAD1_ENST00000388725.2_Missense_Mutation_p.G401R	p.G419R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			11	1440	+			419			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.1255G>A	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.327278	0.81690	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.93307	-3.2;-3.2;-3.2	5.33	5.33	0.75918	Adenosine deaminase/editase (3);	0.375081	0.26812	N	0.022373	D	0.94892	0.8349	L	0.47716	1.5	0.52099	D	0.999941	B;D	0.76494	0.142;0.999	B;D	0.73380	0.146;0.98	D	0.92260	0.5816	10	0.13470	T	0.59	-3.9126	19.0085	0.92863	0.0:0.0:1.0:0.0	.	408;419	Q96M93-2;Q96M93	.;ADAD1_HUMAN	R	419;408;401	ENSP00000296513:G419R;ENSP00000373376:G408R;ENSP00000373377:G401R	ENSP00000296513:G419R	G	+	1	0	ADAD1	123555989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.324000	0.65863	2.497000	0.84241	0.650000	0.86243	GGG		0.348	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		9	59	0	0	0	1	0	9	59				
KLHL28	54813	broad.mit.edu	37	14	45400708	45400708	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr14:45400708C>A	ENST00000396128.4	-	4	1499	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	KLHL28_ENST00000355081.2_Missense_Mutation_p.E474D	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	460										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGCAACCATCTCCCAGGAGT	0.393																																						ENST00000396128.4																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1378-1380)gaG>gaT		kelch-like family member 28							101.0	96.0	98.0					14																	45400708		2203	4300	6503	SO:0001583	missense	54813							g.chr14:45400708C>A	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.1380G>T	14.37:g.45400708C>A	ENSP00000379434:p.Glu460Asp					KLHL28_ENST00000355081.2_Missense_Mutation_p.E474D	p.E460D	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN			4	1499	-			460					Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.1380G>T	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.710954	0.30322	.	.	ENSG00000179454	ENST00000396128;ENST00000355081	T;T	0.81247	-1.47;-1.47	4.72	3.56	0.40772	Kelch-type beta propeller (1);	0.050906	0.85682	D	0.000000	T	0.76205	0.3955	L	0.54323	1.7	0.44899	D	0.997918	B	0.20887	0.049	B	0.28916	0.096	T	0.74034	-0.3794	10	0.40728	T	0.16	.	11.4058	0.49898	0.0:0.8691:0.0:0.1309	.	460	Q9NXS3	KLH28_HUMAN	D	460;474	ENSP00000379434:E460D;ENSP00000347193:E474D	ENSP00000347193:E474D	E	-	3	2	KLHL28	44470458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.049000	0.30392	2.321000	0.78463	0.563000	0.77884	GAG		0.393	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			3	39	1	0	6.4e-05	1	6.78788e-05	3	39				
TP53	7157	broad.mit.edu	37	17	7578449	7578449	+	Missense_Mutation	SNP	C	C	T	rs193920817		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr17:7578449C>T	ENST00000269305.4	-	5	670	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	TP53_ENST00000420246.2_Missense_Mutation_p.A161T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.A161T|TP53_ENST00000413465.2_Missense_Mutation_p.A161T|TP53_ENST00000359597.4_Missense_Mutation_p.A161T|TP53_ENST00000445888.2_Missense_Mutation_p.A161T	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	161	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(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)	TTGTAGATGGCCATGGCGCGG	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		96	Substitution - Missense(63)|Deletion - Frameshift(10)|Deletion - In frame(9)|Whole gene deletion(8)|Complex - frameshift(3)|Insertion - Frameshift(2)|Complex - compound substitution(1)	p.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)	lung(15)|large_intestine(13)|urinary_tract(8)|stomach(7)|central_nervous_system(7)|upper_aerodigestive_tract(6)|oesophagus(6)|pancreas(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|bone(4)|liver(4)|breast(3)|ovary(3)|thyroid(1)|meninges(1)|peritoneum(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(481-483)Gcc>Acc	Other conserved DNA damage response genes	tumor protein p53							52.0	53.0	53.0					17																	7578449		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.chr17:7578449C>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.481G>A	17.37:g.7578449C>T	ENSP00000269305:p.Ala161Thr	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_ENST00000455263.2_Missense_Mutation_p.A161T|TP53_ENST00000413465.2_Missense_Mutation_p.A161T|TP53_ENST00000445888.2_Missense_Mutation_p.A161T|TP53_ENST00000359597.4_Missense_Mutation_p.A161T|TP53_ENST00000269305.4_Missense_Mutation_p.A161T	p.A161T	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)	5	613	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	161		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.481G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048421	0.55110	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	5.59	4.62	0.57501	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	0.99816	0.9919	M	0.86420	2.815	0.50313	D	0.999869	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.975;0.998;0.999;1.0;1.0	D	0.96744	0.9549	10	0.72032	D	0.01	-25.6622	14.7187	0.69289	0.0:0.8543:0.1457:0.0	.	122;161;161;68;161;161;161	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	161;161;161;161;161;161;150;68;29;68;29;161	ENSP00000410739:A161T;ENSP00000352610:A161T;ENSP00000269305:A161T;ENSP00000398846:A161T;ENSP00000391127:A161T;ENSP00000391478:A161T;ENSP00000425104:A29T;ENSP00000423862:A68T;ENSP00000424104:A161T	ENSP00000269305:A161T	A	-	1	0	TP53	7519174	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	1.014000	0.29950	1.498000	0.48600	0.655000	0.94253	GCC		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		54	37	0	0	0	1	0	54	37				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	44	0	0	0	1	0	3	44				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						ENST00000445430.1																			0																																																			0							g.chr3:195400795C>T	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.195400795C>T														0	1391	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	50	0	0	0	1	0	5	50				
MTPAP	55149	broad.mit.edu	37	10	30653858	30653858	+	Silent	SNP	A	A	C			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr10:30653858A>C	ENST00000358107.4	-	2	323	c.324T>G	c.(322-324)ggT>ggG	p.G108G	RN7SL241P_ENST00000482973.2_RNA|AL161651.1_ENST00000408070.1_RNA|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						cacccaccccacccccacccc	0.642																																						ENST00000358107.4																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(322-324)ggT>ggG		mitochondrial poly(A) polymerase																																				SO:0001819	synonymous_variant	55149				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	g.chr10:30653858A>C	AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000358107.4:c.324T>G	10.37:g.30653858A>C						MTPAP_ENST00000488290.1_5'UTR	p.G108G			Q9NVV4	PAPD1_HUMAN			2	323	-			0					D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	ENST00000358107.4	37	c.324T>G																																																																																					0.642	MTPAP-201	KNOWN	basic	protein_coding	protein_coding		NM_018109		5	13	0	0	0	1	0	5	13				
SPAG17	200162	broad.mit.edu	37	1	118554864	118554874	+	Frame_Shift_Del	DEL	ATCTGGCAGAA	ATCTGGCAGAA	-			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:118554864_118554874delATCTGGCAGAA	ENST00000336338.5	-	30	4474_4484	c.4409_4419delTTCTGCCAGAT	c.(4408-4419)attctgccagatfs	p.ILPD1470fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1470						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTCTTGATCATCTGGCAGAATAATTTGATC	0.336																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4408-4419)afs		sperm associated antigen 17																																				SO:0001589	frameshift_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118554864_118554874delATCTGGCAGAA		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4409_4419delTTCTGCCAGAT	1.37:g.118554864_118554874delATCTGGCAGAA	ENSP00000337804:p.Ile1470fs						p.ILPD1470fs	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	30	4474_4484	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1470					Q8NAZ1|Q9NT21	Frame_Shift_Del	DEL	ENST00000336338.5	37	c.4409_4419delTTCTGCCAGAT	CCDS899.1																																																																																				0.336	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		7	40						7	40	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-	rs147596634		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:181680102_181680103delAG	ENST00000367573.2	+	8	1068_1069	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.E357fs	CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000367567.4_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	357					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.51																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1066-1071)aaagfs		calcium channel, voltage-dependent, R type, alpha 1E subunit			,,	161,3503		41,79,1712					,,	5.3	1.0		dbSNP_134	61	297,7585		52,193,3696	yes	frameshift,frameshift,frameshift	CACNA1E	NM_001205294.1,NM_001205293.1,NM_000721.3	,,	93,272,5408	A1A1,A1R,RR		3.7681,4.3941,3.9667	,,	,,		458,11088				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680102_181680103delAG	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1068_1069delAG	1.37:g.181680112_181680113delAG	ENSP00000356545:p.Glu357fs					CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs	p.KE356fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			8	1233_1234	+			356					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	c.1068_1069delAG	CCDS55664.1																																																																																				0.510	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		8	153						8	153	---	---	---	---
ZNF281	23528	broad.mit.edu	37	1	200378559	200378559	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:200378559delG	ENST00000294740.3	-	2	399	c.275delC	c.(274-276)cctfs	p.P94fs	ZNF281_ENST00000367352.3_Frame_Shift_Del_p.P58fs|ZNF281_ENST00000367353.1_Frame_Shift_Del_p.P94fs	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	94	Poly-Pro.				embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.P93fs*34(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCTGGCGGAGGGGGGGGCTC	0.706																																						ENST00000294740.2																			1	Insertion - Frameshift(1)	p.P93fs*34(1)	large_intestine(1)	breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(274-276)ctfs		zinc finger protein 281				19,2835		5,9,1413	2.0	2.0	2.0			-3.6	1.0	1		2	67,5707		13,41,2833	no	frameshift	ZNF281	NM_012482.3		18,50,4246	A1A1,A1R,RR		1.1604,0.6657,0.9968			200378559	86,8542	1668	3368	5036	SO:0001589	frameshift_variant	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200378559delG	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.275delC	1.37:g.200378559delG	ENSP00000294740:p.Pro94fs					ZNF281_ENST00000367352.3_Frame_Shift_Del_p.P58fs|ZNF281_ENST00000367353.1_Frame_Shift_Del_p.P94fs	p.P94fs	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	399	-			94			Poly-Pro.		A6NF48|B3KMX2|Q5RKW5|Q9NY92	Frame_Shift_Del	DEL	ENST00000294740.3	37	c.275delC	CCDS1402.1																																																																																				0.706	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		2	4						2	4	---	---	---	---
TMEM63A	9725	broad.mit.edu	37	1	226034840	226034842	+	In_Frame_Del	DEL	CTG	CTG	-	rs193031527		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:226034840_226034842delCTG	ENST00000366835.3	-	24	2593_2595	c.2323_2325delCAG	c.(2323-2325)cagdel	p.Q775del	RP11-285F7.2_ENST00000424332.1_RNA	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	775					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.Q775delQ(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACCATAGGTCTGCTGCTGCTGC	0.626																																						ENST00000366835.3																			1	Deletion - In frame(1)	p.Q775delQ(1)	breast(1)	breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24						c.(2323-2325)del		transmembrane protein 63A																																				SO:0001651	inframe_deletion	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226034840_226034842delCTG		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.2323_2325delCAG	1.37:g.226034849_226034851delCTG	ENSP00000355800:p.Gln775del						p.Q775del	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN			24	2593_2595	-	Breast(184;0.197)		775					Q53GI7|Q5TE96|Q8N2U2	In_Frame_Del	DEL	ENST00000366835.3	37	c.2323_2325delCAG	CCDS31042.1																																																																																				0.626	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		8	236						8	236	---	---	---	---
MOXD1	26002	broad.mit.edu	37	6	132722520	132722520	+	Frame_Shift_Del	DEL	T	T	-	rs577565792	byFrequency	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr6:132722520delT	ENST00000367963.3	-	1	164	c.46delA	c.(46-48)acgfs	p.T16fs	MOXD1_ENST00000392401.3_Frame_Shift_Del_p.T16fs	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	16						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CCCGCCGCCGTCCCGGGGAGC	0.746																																						ENST00000367963.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(46-48)cgfs		monooxygenase, DBH-like 1							4.0	4.0	4.0					6																	132722520		1880	3811	5691	SO:0001589	frameshift_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132722520delT	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.46delA	6.37:g.132722520delT	ENSP00000356940:p.Thr16fs					MOXD1_ENST00000392401.3_Frame_Shift_Del_p.T16fs	p.T16fs	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	1	164	-	Breast(56;0.0495)		16					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Frame_Shift_Del	DEL	ENST00000367963.3	37	c.46delA	CCDS5152.2																																																																																				0.746	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	NM_015529		2	4						2	4	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		6	4						6	4	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		6	2						6	2	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14284600	14284601	+	RNA	DEL	AA	AA	-	rs79477301		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr11:14284600_14284601delAA	ENST00000534587.1	-	0	38				SPON1_ENST00000310358.7_RNA																							GGACCTGTTTaaaaaaaaaaaa	0.465																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein																																						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14284600_14284601delAA																													11.37:g.14284610_14284611delAA						RP11-21L19.1_ENST00000534587.1_RNA				Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	2795	+									RNA	DEL	ENST00000534587.1	37																																																																																						0.465	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			3	5						3	5	---	---	---	---
