#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
ATM	472	broad.mit.edu	37	11	108124759	108124759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr11:108124759C>A	ENST00000452508.2	+	14	2306	c.2117C>A	c.(2116-2118)tCa>tAa	p.S706*	ATM_ENST00000278616.4_Nonsense_Mutation_p.S706*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	706			YSS -> FIP (in AT; might be associated with susceptibility to cancer).		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AATAATTACTCATCTGAGGTG	0.393			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(2116-2118)tCa>tAa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							58.0	57.0	57.0					11																	108124759		2200	4298	6498	SO:0001587	stop_gained	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108124759C>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2117C>A	11.37:g.108124759C>A	ENSP00000388058:p.Ser706*	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Nonsense_Mutation_p.S706*	p.S706*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	13	2502	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	706		YSS -> FIP (in AT; might be associated with susceptibility to cancer).			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	c.2117C>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	42	9.313169	0.99133	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	.	.	.	6.11	6.11	0.99139	.	0.278697	0.34906	N	0.003584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4535	0.87599	0.0:1.0:0.0:0.0	.	.	.	.	X	706	.	ENSP00000278616:S706X	S	+	2	0	ATM	107629969	0.048000	0.20356	1.000000	0.80357	0.901000	0.52897	1.807000	0.38902	2.906000	0.99361	0.655000	0.94253	TCA		0.393	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		32	51	1	0	8.88839e-20	1	9.53876e-20	32	51				
RIPK4	54101	broad.mit.edu	37	21	43166847	43166847	+	Missense_Mutation	SNP	C	C	T	rs552648714		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr21:43166847C>T	ENST00000352483.2	-	5	822	c.758G>A	c.(757-759)cGc>cAc	p.R253H	RIPK4_ENST00000332512.3_Missense_Mutation_p.R253H|RIPK4_ENST00000544709.1_Missense_Mutation_p.R190H|RIPK4_ENST00000542057.1_Missense_Mutation_p.R190H			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	253	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCTGCAGGCGCGCGGCCGGGC	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		17542	0.001		0.0	False		,,,				2504	0.0					ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(757-759)cGc>cAc		receptor-interacting serine-threonine kinase 4							50.0	51.0	50.0					21																	43166847		2200	4298	6498	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43166847C>T	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.758G>A	21.37:g.43166847C>T	ENSP00000330161:p.Arg253His					RIPK4_ENST00000544709.1_Missense_Mutation_p.R190H|RIPK4_ENST00000332512.3_Missense_Mutation_p.R253H|RIPK4_ENST00000542057.1_Missense_Mutation_p.R190H	p.R253H			Q96T11	Q96T11_HUMAN			5	822	-			253					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.758G>A		.	.	.	.	.	.	.	.	.	.	C	7.010	0.556606	0.13436	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.28	4.4	0.53042	.	0.297185	0.29066	N	0.013254	T	0.45677	0.1354	L	0.31420	0.93	0.09310	N	1	B	0.18013	0.025	B	0.09377	0.004	T	0.31668	-0.9935	10	0.38643	T	0.18	-35.2839	7.0216	0.24916	0.0:0.7294:0.0:0.2706	.	253	P57078-2	.	H	253;253;190;190	ENSP00000332454:R253H;ENSP00000330161:R253H;ENSP00000441754:R190H;ENSP00000442901:R190H	ENSP00000332454:R253H	R	-	2	0	RIPK4	42039916	0.251000	0.23961	0.125000	0.21846	0.313000	0.28021	0.750000	0.26334	1.232000	0.43678	-0.258000	0.10820	CGC		0.667	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		36	54	0	0	0	1	0	36	54				
CNGB1	1258	broad.mit.edu	37	16	57998056	57998056	+	Missense_Mutation	SNP	C	C	T	rs368957667		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr16:57998056C>T	ENST00000251102.8	-	4	328	c.268G>A	c.(268-270)Gct>Act	p.A90T	CNGB1_ENST00000311183.4_Missense_Mutation_p.A90T|CNGB1_ENST00000564448.1_Missense_Mutation_p.A90T	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	90					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAAATCTCAGCGCCCTGGGCC	0.587																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(268-270)Gct>Act		cyclic nucleotide gated channel beta 1							78.0	84.0	82.0					16																	57998056		1913	4112	6025	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57998056C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.268G>A	16.37:g.57998056C>T	ENSP00000251102:p.Ala90Thr					CNGB1_ENST00000251102.8_Missense_Mutation_p.A90T|CNGB1_ENST00000311183.4_Missense_Mutation_p.A90T	p.A90T			Q14028	CNGB1_HUMAN			4	328	-			90					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.268G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	7.200	0.593322	0.13875	.	.	ENSG00000070729	ENST00000251102;ENST00000311183	D;T	0.97089	-4.24;0.8	3.71	-3.61	0.04556	.	1.993060	0.02978	N	0.145298	D	0.88573	0.6473	N	0.03608	-0.345	0.09310	N	1	B;B	0.27951	0.195;0.023	B;B	0.20184	0.028;0.005	D	0.85560	0.1227	10	0.23302	T	0.38	.	4.6559	0.12617	0.1541:0.3386:0.0:0.5073	.	90;90	Q14028-3;Q14028	.;CNGB1_HUMAN	T	90	ENSP00000251102:A90T;ENSP00000311670:A90T	ENSP00000251102:A90T	A	-	1	0	CNGB1	56555557	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.053000	0.01400	-0.726000	0.04895	-0.302000	0.09304	GCT		0.587	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		10	10	0	0	0	1	0	10	10				
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																						ENST00000442266.1																			0																																																			0							g.chr7:65226641G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T														0	1167	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	25	1	0	0.00024832	1	0.00024832	3	25				
MOG	4340	broad.mit.edu	37	6	29638125	29638125	+	Silent	SNP	C	C	T	rs556652742		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr6:29638125C>T	ENST00000376917.3	+	6	889	c.660C>T	c.(658-660)ccC>ccT	p.P220P	MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376898.3_Silent_p.P220P|MOG_ENST00000376888.2_Silent_p.P104P|MOG_ENST00000376894.4_Silent_p.P220P|MOG_ENST00000376891.4_Intron|MOG_ENST00000494692.1_Intron|MOG_ENST00000416766.2_Silent_p.P182P|MOG_ENST00000396701.2_Intron|MOG_ENST00000396704.3_Intron|MOG_ENST00000431798.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000533330.2_3'UTR	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	220					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTCTTGGACCCTTGGTTGCCT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18368	0.0		0.0	False		,,,				2504	0.001					ENST00000376894.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(658-660)ccC>ccT		myelin oligodendrocyte glycoprotein							244.0	232.0	236.0					6																	29638125		2203	4300	6503	SO:0001819	synonymous_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29638125C>T		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.660C>T	6.37:g.29638125C>T						MOG_ENST00000376888.2_Silent_p.P104P|MOG_ENST00000376898.3_Silent_p.P220P|MOG_ENST00000376917.3_Silent_p.P220P|MOG_ENST00000483013.1_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000431798.2_Intron|MOG_ENST00000416766.2_Silent_p.P182P|MOG_ENST00000396701.2_Intron|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000396704.3_Intron|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000494692.1_Intron|MOG_ENST00000490427.1_Intron	p.P220P			Q16653	MOG_HUMAN			6	778	+			220					A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	c.660C>T	CCDS34370.1																																																																																				0.512	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		4	81	0	0	0	1	0	4	81				
SNX27	81609	broad.mit.edu	37	1	151641080	151641080	+	Missense_Mutation	SNP	A	A	G	rs149636067		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr1:151641080A>G	ENST00000458013.2	+	7	1238	c.1118A>G	c.(1117-1119)aAt>aGt	p.N373S	SNX27_ENST00000368843.3_Missense_Mutation_p.N373S|SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368838.1_Missense_Mutation_p.N280S			Q96L92	SNX27_HUMAN	sorting nexin family member 27	373	FERM-like region F2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.N373S(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTAAATGACAATGACCTTGCT	0.363																																					Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			1	Substitution - Missense(1)	p.N373S(1)	ovary(1)	central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(1117-1119)aAt>aGt		sorting nexin family member 27		A	SER/ASN	0,4406		0,0,2203	80.0	78.0	79.0		1118	5.1	1.0	1	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNX27	NM_030918.5	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	373/529	151641080	1,13005	2203	4300	6503	SO:0001583	missense	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151641080A>G	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1118A>G	1.37:g.151641080A>G	ENSP00000400333:p.Asn373Ser					SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368838.1_Missense_Mutation_p.N280S|SNX27_ENST00000458013.2_Missense_Mutation_p.N373S	p.N373S	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		7	1238	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		373					Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	ENST00000458013.2	37	c.1118A>G		.	.	.	.	.	.	.	.	.	.	A	13.49	2.252180	0.39797	0.0	1.16E-4	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.49432	0.78;0.79;1.0	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	L	0.57536	1.79	0.58432	D	0.999998	B;B	0.23990	0.034;0.095	B;B	0.15484	0.006;0.013	T	0.10917	-1.0609	10	0.25106	T	0.35	.	13.853	0.63508	1.0:0.0:0.0:0.0	.	373;373	Q96L92;Q96L92-3	SNX27_HUMAN;.	S	373;373;280	ENSP00000400333:N373S;ENSP00000357836:N373S;ENSP00000357831:N280S	ENSP00000357831:N280S	N	+	2	0	SNX27	149907704	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.426000	0.90273	2.145000	0.66743	0.254000	0.18369	AAT		0.363	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		32	51	0	0	0	1	0	32	51				
KRT85	3891	broad.mit.edu	37	12	52760836	52760836	+	Silent	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:52760836G>A	ENST00000257901.3	-	1	429	c.354C>T	c.(352-354)tgC>tgT	p.C118C	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	118	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTTCACGCACTGTGCGT	0.632																																						ENST00000257901.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(352-354)tgC>tgT		keratin 85							164.0	153.0	157.0					12																	52760836		2203	4296	6499	SO:0001819	synonymous_variant	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52760836G>A	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.354C>T	12.37:g.52760836G>A							p.C118C	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	429	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		118			Head.		Q9NSB1	Silent	SNP	ENST00000257901.3	37	c.354C>T	CCDS8824.1																																																																																				0.632	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		55	114	0	0	0	1	0	55	114				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262103	39262103	+	Missense_Mutation	SNP	A	A	T	rs374629799	byFrequency	TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr17:39262103A>T	ENST00000391415.1	+	1	520	c.463A>T	c.(463-465)Agc>Tgc	p.S155C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	155	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccccagctgcagcatctccag	0.672													a|||	152	0.0303514	0.0893	0.0216	5008	,	,		18051	0.001		0.0139	False		,,,				2504	0.0041					ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(463-465)Agc>Tgc		keratin associated protein 4-9							6.0	9.0	8.0					17																	39262103		679	1572	2251	SO:0001583	missense	100132386					keratin filament		g.chr17:39262103A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.463A>T	17.37:g.39262103A>T	ENSP00000375234:p.Ser155Cys						p.S155C	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	520	+			155			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.463A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	0.091	-1.167638	0.01660	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00584	6.4	3.1	-1.38	0.09027	.	.	.	.	.	T	0.00109	0.0003	N	0.00041	-2.485	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48186	-0.9057	9	0.02654	T	1	.	0.2915	0.00259	0.1968:0.2502:0.1975:0.3554	.	155	Q9BYQ8	KRA49_HUMAN	C	143;155;146	ENSP00000375234:S155C	ENSP00000334461:S146C	S	+	1	0	KRTAP4-9	36515629	0.946000	0.32159	0.002000	0.10522	0.205000	0.24178	1.056000	0.30480	-0.110000	0.12022	-1.044000	0.02363	AGC		0.672	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		3	16	0	0	0	1	0	3	16				
POT1	25913	broad.mit.edu	37	7	124503468	124503468	+	Missense_Mutation	SNP	T	T	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr7:124503468T>A	ENST00000357628.3	-	8	1080	c.482A>T	c.(481-483)tAt>tTt	p.Y161F	POT1_ENST00000393329.1_Missense_Mutation_p.Y30F	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	161					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CAGGTCAAAATACTGCATTGG	0.403																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(481-483)tAt>tTt		protection of telomeres 1							131.0	121.0	124.0					7																	124503468		2203	4300	6503	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124503468T>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.482A>T	7.37:g.124503468T>A	ENSP00000350249:p.Tyr161Phe					POT1_ENST00000393329.1_Missense_Mutation_p.Y30F	p.Y161F	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			8	1080	-			161					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.482A>T	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.817687	0.32145	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.59502	0.88;0.26	5.47	2.86	0.33363	Nucleic acid-binding, OB-fold-like (1);	0.192417	0.46442	D	0.000284	T	0.41719	0.1171	L	0.45352	1.415	0.40892	D	0.984082	B	0.11235	0.004	B	0.12837	0.008	T	0.27706	-1.0066	10	0.05351	T	0.99	-19.5567	10.6345	0.45556	0.2096:0.0:0.0:0.7904	.	161	Q9NUX5	POTE1_HUMAN	F	161;30;161;161;161;160	ENSP00000350249:Y161F;ENSP00000377002:Y30F	ENSP00000265391:Y160F	Y	-	2	0	POT1	124290704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.001000	0.29783	2.069000	0.61940	0.528000	0.53228	TAT		0.403	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			46	70	0	0	0	1	0	46	70				
FLG	2312	broad.mit.edu	37	1	152286320	152286320	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr1:152286320G>A	ENST00000368799.1	-	3	1077	c.1042C>T	c.(1042-1044)Cac>Tac	p.H348Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	348	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCAGAGTGCCCATGACTG	0.557									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(1042-1044)Cac>Tac		filaggrin							245.0	242.0	243.0					1																	152286320		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152286320G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.1042C>T	1.37:g.152286320G>A	ENSP00000357789:p.His348Tyr					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H348Y	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1077	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		348			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1042C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	8.664	0.901141	0.17760	.	.	ENSG00000143631	ENST00000368799	T	0.00648	5.99	2.8	-2.51	0.06365	.	.	.	.	.	T	0.00637	0.0021	L	0.57536	1.79	0.09310	N	1	D	0.57257	0.979	D	0.68192	0.956	T	0.46707	-0.9172	9	0.29301	T	0.29	-1.2953	5.5359	0.17011	0.0:0.3473:0.3137:0.3389	.	348	P20930	FILA_HUMAN	Y	348	ENSP00000357789:H348Y	ENSP00000357789:H348Y	H	-	1	0	FLG	150552944	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.101000	0.10973	-0.751000	0.04734	0.400000	0.26472	CAC		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	390	0	0	0	1	0	10	390				
B4GALT3	8703	broad.mit.edu	37	1	161143660	161143660	+	Silent	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr1:161143660C>T	ENST00000319769.5	-	5	891	c.669G>A	c.(667-669)aaG>aaA	p.K223K	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Silent_p.K223K|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000470882.1_5'UTR	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	223				K -> S (in Ref. 2; AAC39734). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TGTATCCAAACTTGTTCATAG	0.537																																						ENST00000319769.5																			0				cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18						c.(667-669)aaG>aaA		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	N-Acetyl-D-glucosamine(DB00141)						98.0	95.0	96.0					1																	161143660		2203	4300	6503	SO:0001819	synonymous_variant	8703				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:161143660C>T	BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"""Beta 4-glycosyltransferases"""	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.669G>A	1.37:g.161143660C>T						B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000367998.1_Silent_p.K223K	p.K223K	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		5	891	-	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		223	K -> S (in Ref. 2; AAC39734).				D3DVG3|O60910|Q9BPZ4|Q9H8T2	Silent	SNP	ENST00000319769.5	37	c.669G>A	CCDS1222.1																																																																																				0.537	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083054.1	NM_003779		7	52	0	0	0	1	0	7	52				
HMHA1	23526	broad.mit.edu	37	19	1080421	1080421	+	Intron	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr19:1080421C>T	ENST00000313093.2	+	15	2059				HMHA1_ENST00000536472.1_Missense_Mutation_p.A464V|HMHA1_ENST00000539243.2_Intron|HMHA1_ENST00000590577.1_Intron|HMHA1_ENST00000543365.1_Intron|HMHA1_ENST00000586866.1_Intron|HMHA1_ENST00000590214.1_Intron	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCTCCCTGCGACCCACCCT	0.677																																						ENST00000536472.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(1390-1392)gCg>gTg		histocompatibility (minor) HA-1							28.0	34.0	32.0					19																	1080421		2202	4298	6500	SO:0001627	intron_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080421C>T	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1829-42C>T	19.37:g.1080421C>T						HMHA1_ENST00000313093.2_Intron|HMHA1_ENST00000590214.1_Intron|HMHA1_ENST00000539243.2_Intron|HMHA1_ENST00000543365.1_Intron|HMHA1_ENST00000586866.1_Intron|HMHA1_ENST00000590577.1_Intron	p.A464V			Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1629	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	609					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.1391C>T	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	C	5.605	0.296457	0.10622	.	.	ENSG00000180448	ENST00000536472	T	0.20200	2.09	3.57	-7.14	0.01527	.	.	.	.	.	T	0.08313	0.0207	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28522	-1.0041	7	.	.	.	.	3.0809	0.06261	0.099:0.3751:0.3152:0.2108	.	464	F5H4A3	.	V	464	ENSP00000445109:A464V	.	A	+	2	0	HMHA1	1031421	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-5.970000	0.00088	-2.417000	0.00567	-1.654000	0.00755	GCG		0.677	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			22	37	0	0	0	1	0	22	37				
FRG1	2483	broad.mit.edu	37	4	190864382	190864382	+	Nonsense_Mutation	SNP	A	A	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr4:190864382A>T	ENST00000226798.4	+	2	310	c.88A>T	c.(88-90)Aaa>Taa	p.K30*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	30	Lys-rich.				mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		caaagataagaaaagaaaaag	0.303																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(88-90)Aaa>Taa		FSHD region gene 1							37.0	46.0	43.0					4																	190864382		2188	4228	6416	SO:0001587	stop_gained	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190864382A>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.88A>T	4.37:g.190864382A>T	ENSP00000226798:p.Lys30*					FRG1_ENST00000514482.1_3'UTR	p.K30*	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	2	310	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	30			Lys-rich.		A8K775	Nonsense_Mutation	SNP	ENST00000226798.4	37	c.88A>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	36	5.895493	0.97074	.	.	ENSG00000109536	ENST00000226798	.	.	.	3.1	3.1	0.35709	.	0.052527	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	20.2242	8.0509	0.30577	1.0:0.0:0.0:0.0	.	.	.	.	X	30	.	ENSP00000226798:K30X	K	+	1	0	FRG1	191101376	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.274000	0.58921	1.663000	0.50791	0.449000	0.29647	AAA		0.303	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		3	45	0	0	0	1	0	3	45				
CYP2C18	1562	broad.mit.edu	37	10	96480296	96480296	+	Splice_Site	SNP	T	T	C			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr10:96480296T>C	ENST00000285979.6	+	6	1160		c.e6+2		CYP2C18_ENST00000339022.5_Splice_Site|CYP2C19_ENST00000464755.1_Splice_Site	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18						small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	AGGTCACAGGTATGATGATAC	0.448																																						ENST00000285979.6																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26						c.e6+2		cytochrome P450, family 2, subfamily C, polypeptide 18							129.0	121.0	123.0					10																	96480296		2203	4300	6503	SO:0001630	splice_region_variant	1562							g.chr10:96480296T>C	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.961+2T>C	10.37:g.96480296T>C						CYP2C19_ENST00000464755.1_Splice_Site|CYP2C18_ENST00000339022.5_Splice_Site		NM_000772.2	NP_000763.1				all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	6	1160	+		Colorectal(252;0.09)						B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Splice_Site	SNP	ENST00000285979.6	37		CCDS7435.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.739316	0.69304	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	.	.	.	4.2	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2857	0.49220	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP2C18	96470286	1.000000	0.71417	0.869000	0.34112	0.430000	0.31655	4.028000	0.57246	1.744000	0.51775	0.255000	0.18592	.		0.448	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049486.1	NM_000772	Intron	35	43	0	0	0	1	0	35	43				
KRT33B	3884	broad.mit.edu	37	17	39521493	39521493	+	Silent	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr17:39521493C>T	ENST00000251646.3	-	5	859	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	270	Coil 2.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CGATGATCTCCGCCTGGTAGG	0.587																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(808-810)gcG>gcA		keratin 33B							98.0	92.0	94.0					17																	39521493		2193	4300	6493	SO:0001819	synonymous_variant	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521493C>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.810G>A	17.37:g.39521493C>T							p.A270A	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			5	859	-		Breast(137;0.000496)	270			Coil 2.|Rod.		O76010	Silent	SNP	ENST00000251646.3	37	c.810G>A	CCDS11389.1																																																																																				0.587	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		45	54	0	0	0	1	0	45	54				
FGFR1	2260	broad.mit.edu	37	8	38274849	38274849	+	Missense_Mutation	SNP	G	G	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr8:38274849G>T	ENST00000447712.2	-	12	2579	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	546	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.N546K(4)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCCCCAGCAGGTTGATGATAT	0.542		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	4	Substitution - Missense(4)	p.N546K(4)	central_nervous_system(4)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(1636-1638)aaC>aaA		fibroblast growth factor receptor 1	Palifermin(DB00039)						87.0	95.0	92.0					8																	38274849		2154	4289	6443	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38274849G>T	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1638C>A	8.37:g.38274849G>T	ENSP00000400162:p.Asn546Lys					FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000341462.5_Missense_Mutation_p.N546K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K	p.N546K	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		12	2579	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	546			Protein kinase.		A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.1638C>A	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406498	0.83230	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7;-2.7	5.57	3.76	0.43208	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	N	0.04387	-0.21	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88572	0.3130	10	0.87932	D	0	.	9.3132	0.37919	0.2169:0.0:0.7831:0.0	.	455;455;546;536;544	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	K	544;577;546;546;546;544;544;457;536;455;457;544	ENSP00000380280:N544K;ENSP00000393312:N577K;ENSP00000400162:N546K;ENSP00000340636:N546K;ENSP00000432972:N544K;ENSP00000380302:N544K;ENSP00000348537:N457K;ENSP00000337247:N536K;ENSP00000327229:N455K;ENSP00000380292:N457K;ENSP00000380297:N544K	ENSP00000311337:N546K	N	-	3	2	FGFR1	38394006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.001000	0.40825	1.491000	0.48482	0.655000	0.94253	AAC		0.542	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				41	51	1	0	9.39024e-22	1	1.05941e-21	41	51				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			3	34	0	0	0	1	0	3	34				
TMEM2	23670	broad.mit.edu	37	9	74332990	74332990	+	Missense_Mutation	SNP	C	C	T	rs140238648		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr9:74332990C>T	ENST00000377044.4	-	13	2812	c.2273G>A	c.(2272-2274)cGa>cAa	p.R758Q	TMEM2_ENST00000377066.5_Missense_Mutation_p.R695Q	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	758					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTGATGAGGTCGAAATCTAGG	0.338																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(2272-2274)cGa>cAa		transmembrane protein 2		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	71.0	74.0	73.0		2084,2273	4.5	1.0	9	dbSNP_134	73	1,8599		0,1,4299	no	missense,missense	TMEM2	NM_001135820.1,NM_013390.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	695/1321,758/1384	74332990	1,13005	2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74332990C>T		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.2273G>A	9.37:g.74332990C>T	ENSP00000366243:p.Arg758Gln					TMEM2_ENST00000377066.5_Missense_Mutation_p.R695Q	p.R758Q	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	13	2812	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	758					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.2273G>A	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485307	0.84854	0.0	1.16E-4	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.58060	0.36;0.36	5.47	4.54	0.55810	Pectin lyase fold/virulence factor (1);	0.053459	0.64402	N	0.000001	T	0.57359	0.2048	M	0.72118	2.19	0.80722	D	1	P;D	0.54964	0.947;0.969	B;P	0.48400	0.254;0.576	T	0.56926	-0.7898	10	0.23891	T	0.37	.	13.4477	0.61151	0.0:0.9215:0.0:0.0785	.	758;695	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	Q	758;695	ENSP00000366243:R758Q;ENSP00000366266:R695Q	ENSP00000366243:R758Q	R	-	2	0	TMEM2	73522810	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.295000	0.65692	1.251000	0.43983	0.558000	0.71614	CGA		0.338	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		29	50	0	0	0	1	0	29	50				
SLITRK3	22865	broad.mit.edu	37	3	164906505	164906505	+	Missense_Mutation	SNP	C	C	T			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr3:164906505C>T	ENST00000475390.1	-	2	2557	c.2114G>A	c.(2113-2115)tGc>tAc	p.C705Y	SLITRK3_ENST00000241274.3_Missense_Mutation_p.C705Y			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	705					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAGCCTGTGGCATTGCATTTG	0.592										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2113-2115)tGc>tAc		SLIT and NTRK-like family, member 3							96.0	72.0	80.0					3																	164906505		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906505C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2114G>A	3.37:g.164906505C>T	ENSP00000420091:p.Cys705Tyr	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.C705Y	p.C705Y			O94933	SLIK3_HUMAN			2	2557	-			705					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2114G>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797820	0.31777	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.51574	0.7;0.7	5.0	5.0	0.66597	.	0.000000	0.41194	D	0.000924	T	0.49558	0.1564	N	0.16307	0.4	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.27502	-1.0072	10	0.07813	T	0.8	-13.477	17.5793	0.87962	0.0:1.0:0.0:0.0	.	705	O94933	SLIK3_HUMAN	Y	705	ENSP00000420091:C705Y;ENSP00000241274:C705Y	ENSP00000241274:C705Y	C	-	2	0	SLITRK3	166389199	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.740000	0.47418	2.745000	0.94114	0.655000	0.94253	TGC		0.592	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		33	31	0	0	0	1	0	33	31				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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			25	57	0	0	0	1	0	25	57				
POT1	25913	broad.mit.edu	37	7	124503470	124503470	+	Missense_Mutation	SNP	C	C	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr7:124503470C>A	ENST00000357628.3	-	8	1078	c.480G>T	c.(478-480)caG>caT	p.Q160H	POT1_ENST00000393329.1_Missense_Mutation_p.Q29H	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	160					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GGTCAAAATACTGCATTGGCT	0.398																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)	ENST00000357628.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(478-480)caG>caT		protection of telomeres 1							133.0	122.0	126.0					7																	124503470		2203	4300	6503	SO:0001583	missense	25913				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	g.chr7:124503470C>A	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.480G>T	7.37:g.124503470C>A	ENSP00000350249:p.Gln160His					POT1_ENST00000393329.1_Missense_Mutation_p.Q29H	p.Q160H	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN			8	1078	-			160					O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	c.480G>T	CCDS5793.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.670663	0.67814	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.49720	0.8;0.77	5.47	3.29	0.37713	Nucleic acid-binding, OB-fold-like (1);	0.491946	0.23060	N	0.052389	T	0.63010	0.2475	M	0.72894	2.215	0.37925	D	0.931821	D	0.89917	1.0	D	0.62955	0.909	T	0.69866	-0.5029	10	0.54805	T	0.06	-5.4933	12.6151	0.56571	0.0:0.8382:0.0:0.1618	.	160	Q9NUX5	POTE1_HUMAN	H	160;29;160;160;160;159	ENSP00000350249:Q160H;ENSP00000377002:Q29H	ENSP00000265391:Q159H	Q	-	3	2	POT1	124290706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.073000	0.30691	1.268000	0.44264	0.650000	0.86243	CAG		0.398	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1			45	69	1	0	1.00776e-21	1	1.10853e-21	45	69				
CPAMD8	27151	broad.mit.edu	37	19	17085906	17085906	+	Missense_Mutation	SNP	C	C	T	rs374939930		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr19:17085906C>T	ENST00000388925.4	-	13	1601	c.1429G>A	c.(1429-1431)Gta>Ata	p.V477I	CPAMD8_ENST00000443236.1_Splice_Site			Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	0						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTCTCCTTACGGTGAAGGCA	0.547																																						ENST00000388925.4																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(1429-1431)Gta>Ata		C3 and PZP-like, alpha-2-macroglobulin domain containing 8		C		0,3884		0,0,1942	28.0	30.0	30.0			1.7	0.7	19		30	1,8259		0,1,4129	no	splice-5	CPAMD8	NM_015692.2		0,1,6071	TT,TC,CC		0.0121,0.0,0.0082			17085906	1,12143	1942	4130	6072	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17085906C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000388925.4:c.1429G>A	19.37:g.17085906C>T	ENSP00000373577:p.Val477Ile					CPAMD8_ENST00000443236.1_Splice_Site	p.V477I			Q8IZJ3	CPMD8_HUMAN			13	1601	-			0					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000388925.4	37	c.1429G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.74|14.74	2.624534|2.624534	0.46840|0.46840	0.0|0.0	1.21E-4|1.21E-4	ENSG00000160111|ENSG00000160111	ENST00000443236;ENST00000291440|ENST00000388925	.|T	.|0.55588	.|0.51	2.78|2.78	1.71|1.71	0.24356|0.24356	.|.	.|.	.|.	.|.	.|.	.|T	.|0.44953	.|0.1318	.|.	.|.	.|.	0.26094|0.26094	N|N	0.980901|0.980901	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33727	.|-0.9857	.|6	.|0.29301	.|T	.|0.29	.|.	9.583|9.583	0.39499|0.39499	0.0:0.8906:0.0:0.1094|0.0:0.8906:0.0:0.1094	.|.	.|.	.|.	.|.	.|I	-1|477	.|ENSP00000373577:V477I	.|ENSP00000373577:V477I	.|V	-|-	.|1	.|0	CPAMD8|CPAMD8	16946906|16946906	0.997000|0.997000	0.39634|0.39634	0.733000|0.733000	0.30861|0.30861	0.669000|0.669000	0.39330|0.39330	3.647000|3.647000	0.54403|0.54403	0.302000|0.302000	0.22762|0.22762	0.555000|0.555000	0.69702|0.69702	.|GTA		0.547	CPAMD8-201	KNOWN	basic	protein_coding	protein_coding		NM_015692		7	7	0	0	0	1	0	7	7				
TSKU	25987	broad.mit.edu	37	11	76507258	76507258	+	Missense_Mutation	SNP	C	C	G			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr11:76507258C>G	ENST00000527881.1	+	2	1624	c.598C>G	c.(598-600)Ccc>Gcc	p.P200A	TSKU_ENST00000333090.4_Missense_Mutation_p.P200A			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	200					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CCATGCCGTGCCCAACCTCCG	0.667																																						ENST00000527881.1																			0				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12						c.(598-600)Ccc>Gcc		tsukushi, small leucine rich proteoglycan							75.0	77.0	76.0					11																	76507258		2200	4292	6492	SO:0001583	missense	25987					extracellular region		g.chr11:76507258C>G	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.598C>G	11.37:g.76507258C>G	ENSP00000434847:p.Pro200Ala					TSKU_ENST00000333090.4_Missense_Mutation_p.P200A	p.P200A			Q8WUA8	TSK_HUMAN			2	1624	+	Ovarian(111;0.112)		200					B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Missense_Mutation	SNP	ENST00000527881.1	37	c.598C>G	CCDS8246.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182575	0.78677	.	.	ENSG00000182704	ENST00000333090;ENST00000439807;ENST00000527881	T;T	0.08546	3.08;3.08	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03524	-1.1028	10	0.72032	D	0.01	-31.2735	16.5863	0.84728	0.0:1.0:0.0:0.0	.	200	Q8WUA8	TSK_HUMAN	A	200;168;200	ENSP00000332668:P200A;ENSP00000434847:P200A	ENSP00000332668:P200A	P	+	1	0	TSKU	76184906	1.000000	0.71417	0.706000	0.30403	0.830000	0.47004	7.706000	0.84615	2.253000	0.74438	0.561000	0.74099	CCC		0.667	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		34	43	0	0	0	1	0	34	43				
SLC2A14	144195	broad.mit.edu	37	12	7967043	7967043	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:7967043G>A	ENST00000543909.1	-	16	2191	c.1432C>T	c.(1432-1434)Cgt>Tgt	p.R478C	SLC2A14_ENST00000542546.1_Missense_Mutation_p.R369C|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R478C|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R119C|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R455C|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R369C|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R455C|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R493C			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	478					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTCCTGCCACGGGTCTCAGGG	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(1432-1434)Cgt>Tgt		solute carrier family 2 (facilitated glucose transporter), member 14							79.0	71.0	74.0					12																	7967043		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7967043G>A	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1432C>T	12.37:g.7967043G>A	ENSP00000440480:p.Arg478Cys					SLC2A14_ENST00000542546.1_Missense_Mutation_p.R369C|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R369C|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R493C|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R455C|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R119C|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R455C|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R478C	p.R478C			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	16	2191	-			478					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.1432C>T	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.567354	0.45694	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000542505;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	3.81	1.64	0.23874	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.264168	0.34484	N	0.003935	T	0.74794	0.3763	M	0.88906	2.99	0.43191	D	0.995025	P;B;B;B	0.37276	0.589;0.435;0.381;0.108	B;B;B;B	0.36244	0.168;0.12;0.073;0.22	T	0.76141	-0.3068	10	0.87932	D	0	.	8.9369	0.35706	0.0:0.0:0.4245:0.5754	.	493;369;455;478	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	C	455;478;455;119;478;369;369;493	ENSP00000340450:R455C;ENSP00000440480:R478C;ENSP00000407287:R455C;ENSP00000438484:R119C;ENSP00000379834:R478C;ENSP00000440492:R369C;ENSP00000443903:R369C;ENSP00000445929:R493C	ENSP00000340450:R455C	R	-	1	0	SLC2A14	7858310	0.997000	0.39634	0.999000	0.59377	0.989000	0.77384	3.098000	0.50259	0.643000	0.30638	0.460000	0.39030	CGT		0.498	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		30	51	0	0	0	1	0	30	51				
KIAA1217	56243	broad.mit.edu	37	10	24669989	24669989	+	Silent	SNP	A	A	G			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr10:24669989A>G	ENST00000376454.3	+	3	576	c.546A>G	c.(544-546)agA>agG	p.R182R	KIAA1217_ENST00000458595.1_Silent_p.R182R|KIAA1217_ENST00000376462.1_Silent_p.R102R|KIAA1217_ENST00000376452.3_Silent_p.R182R|KIAA1217_ENST00000430453.2_Silent_p.R103R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	182					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGAAAGAAAGATCTCTGGGTA	0.468																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(544-546)agA>agG		KIAA1217							44.0	45.0	44.0					10																	24669989		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669989A>G	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.546A>G	10.37:g.24669989A>G						KIAA1217_ENST00000376452.3_Silent_p.R182R|KIAA1217_ENST00000376462.1_Silent_p.R102R|KIAA1217_ENST00000430453.2_Silent_p.R103R|KIAA1217_ENST00000458595.1_Silent_p.R182R	p.R182R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			3	576	+			182					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.546A>G	CCDS31165.1																																																																																				0.468	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		17	33	0	0	0	1	0	17	33				
PDGFD	80310	broad.mit.edu	37	11	103866968	103866968	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr11:103866968T>C	ENST00000393158.2	-	3	514	c.335A>G	c.(334-336)gAt>gGt	p.D112G	PDGFD_ENST00000302251.5_Missense_Mutation_p.D106G			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	112	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTCCACAAAATCATACCTAGA	0.328																																						ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(316-318)gAt>gGt		platelet derived growth factor D							90.0	83.0	85.0					11																	103866968		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103866968T>C	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.335A>G	11.37:g.103866968T>C	ENSP00000376865:p.Asp112Gly					PDGFD_ENST00000393158.2_Missense_Mutation_p.D112G	p.D106G	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	3	768	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	112			CUB.		A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.317A>G	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.391233	0.82902	.	.	ENSG00000170962	ENST00000393158;ENST00000302251;ENST00000529268	T;T;T	0.34859	1.34;1.34;1.34	5.67	5.67	0.87782	CUB (5);	0.051479	0.85682	D	0.000000	T	0.70202	0.3197	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.79266	-0.1874	10	0.87932	D	0	-19.7167	15.9003	0.79369	0.0:0.0:0.0:1.0	.	112;106	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	G	112;106;135	ENSP00000376865:D112G;ENSP00000302193:D106G;ENSP00000432909:D135G	ENSP00000302193:D106G	D	-	2	0	PDGFD	103372178	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.698000	0.84413	2.165000	0.68154	0.533000	0.62120	GAT		0.328	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		11	46	0	0	0	1	0	11	46				
CPEB1	64506	broad.mit.edu	37	15	83218295	83218295	+	Silent	SNP	A	A	G			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr15:83218295A>G	ENST00000562019.1	-	9	1645	c.1329T>C	c.(1327-1329)gcT>gcC	p.A443A	CPEB1_ENST00000398591.2_Silent_p.A368A|CPEB1_ENST00000564522.1_Silent_p.A363A|CPEB1_ENST00000568128.1_Silent_p.A438A|CPEB1_ENST00000450751.2_Silent_p.A363A|CPEB1_ENST00000563800.1_Silent_p.A465A|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.L173P|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Silent_p.A363A|CPEB1_ENST00000261723.6_Silent_p.A441A|CPEB1_ENST00000398592.2_Silent_p.A212A|CPEB1_ENST00000423133.2_Silent_p.A363A			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	443	Necessary for stress granule assembly and correct localization in dcp1 bodies.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCAGGGCCTCAGCATTTAGCA	0.527																																						ENST00000562833.1																			0											c.(517-519)cTg>cCg									85.0	84.0	84.0					15																	83218295		2033	4180	6213	SO:0001819	synonymous_variant	0							g.chr15:83218295A>G	AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.1329T>C	15.37:g.83218295A>G						CPEB1_ENST00000568757.1_Silent_p.A363A|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Silent_p.A438A|CPEB1_ENST00000562019.1_Silent_p.A443A|CPEB1_ENST00000450751.2_Silent_p.A363A|CPEB1_ENST00000398591.2_Silent_p.A368A|CPEB1_ENST00000398592.2_Silent_p.A212A|CPEB1_ENST00000261723.6_Silent_p.A441A|CPEB1_ENST00000423133.2_Silent_p.A363A|CPEB1_ENST00000564522.1_Silent_p.A363A|CPEB1_ENST00000563800.1_Silent_p.A465A	p.L173P							5	517	-								B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Missense_Mutation	SNP	ENST00000562019.1	37	c.518T>C																																																																																					0.527	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000421102.1	NM_030594		27	29	0	0	0	1	0	27	29				
SMARCA4	6597	broad.mit.edu	37	19	11129635	11129635	+	Missense_Mutation	SNP	C	C	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr19:11129635C>A	ENST00000429416.3	+	18	2722	c.2441C>A	c.(2440-2442)aCg>aAg	p.T814K	SMARCA4_ENST00000450717.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T814K|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000358026.2_Missense_Mutation_p.T814K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T814K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T814K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T814K	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	814	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)|p.T814K(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCATCAGAACGCTGTCCAAC	0.547			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		2	Substitution - Missense(1)|Unknown(1)	p.?(1)|p.T814K(1)	ovary(1)|lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2440-2442)aCg>aAg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							183.0	156.0	166.0					19																	11129635		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11129635C>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2441C>A	19.37:g.11129635C>A	ENSP00000395654:p.Thr814Lys					SMARCA4_ENST00000590574.1_Missense_Mutation_p.T814K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T814K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T814K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T814K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T814K	p.T814K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			17	2725	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	814			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2441C>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671694	0.88348	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27;-3.27;-3.27;-3.27	4.95	4.95	0.65309	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98009	0.9344	H	0.97340	3.985	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;0.999;0.999	D	0.99349	1.0914	10	0.87932	D	0	-35.1325	17.1079	0.86668	0.0:1.0:0.0:0.0	.	814;814;814;814;814;814;814	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	K	814;814;878;814;814;814;814;814	ENSP00000395654:T814K;ENSP00000350720:T814K;ENSP00000343896:T814K;ENSP00000445036:T814K;ENSP00000392837:T814K;ENSP00000397783:T814K;ENSP00000414727:T814K	ENSP00000343896:T814K	T	+	2	0	SMARCA4	10990635	1.000000	0.71417	0.341000	0.25589	0.054000	0.15201	7.627000	0.83176	2.571000	0.86741	0.591000	0.81541	ACG		0.547	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		39	58	1	0	9.73076e-26	1	1.12672e-25	39	58				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	51	0	0	0	1	0	4	51				
FOXI1	2299	broad.mit.edu	37	5	169533529	169533529	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr5:169533529G>A	ENST00000306268.6	+	1	629	c.568G>A	c.(568-570)Gac>Aac	p.D190N	FOXI1_ENST00000449804.2_Missense_Mutation_p.D190N			Q12951	FOXI1_HUMAN	forkhead box I1	190					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGACGAGGACGACCCGGGTAA	0.582									Pendred syndrome																													ENST00000449804.2																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(568-570)Gac>Aac		forkhead box I1							34.0	38.0	36.0					5																	169533529		2203	4300	6503	SO:0001583	missense	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533529G>A	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.568G>A	5.37:g.169533529G>A	ENSP00000304286:p.Asp190Asn					FOXI1_ENST00000306268.6_Missense_Mutation_p.D190N	p.D190N	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	613	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	190					Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.568G>A	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402256	0.83230	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.95518	-3.73;-3.73	4.86	4.86	0.63082	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96984	0.9015	L	0.53671	1.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97595	1.0119	10	0.72032	D	0.01	.	18.1961	0.89822	0.0:0.0:1.0:0.0	.	190;190	Q12951-2;Q12951	.;FOXI1_HUMAN	N	190	ENSP00000304286:D190N;ENSP00000415483:D190N	ENSP00000304286:D190N	D	+	1	0	FOXI1	169466107	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	9.651000	0.98493	2.513000	0.84729	0.650000	0.86243	GAC		0.582	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		6	17	0	0	0	1	0	6	17				
SLC2A3	6515	broad.mit.edu	37	12	8074140	8074140	+	Missense_Mutation	SNP	G	G	A			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:8074140G>A	ENST00000075120.7	-	10	1600	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C	SLC2A3_ENST00000543435.1_5'Flank	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	454					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GTCCTGCCACGGGTCTCAGGG	0.488																																					Colon(96;424 1461 14416 20933 23688)	ENST00000075120.7																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1360-1362)Cgt>Tgt		solute carrier family 2 (facilitated glucose transporter), member 3							97.0	96.0	97.0					12																	8074140		2203	4300	6503	SO:0001583	missense	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8074140G>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1360C>T	12.37:g.8074140G>A	ENSP00000075120:p.Arg454Cys						p.R454C	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN		Kidney(36;0.0866)	10	1600	-			454					B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	c.1360C>T	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744400	0.49151	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.74209	-0.82	3.86	2.92	0.33932	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.264168	0.34484	N	0.003935	T	0.75177	0.3814	M	0.85777	2.775	0.43426	D	0.995584	B	0.27286	0.174	B	0.30782	0.12	T	0.75068	-0.3448	10	0.87932	D	0	.	8.6441	0.33994	0.0:0.0:0.5672:0.4328	.	454	P11169	GTR3_HUMAN	C	454;380	ENSP00000075120:R454C	ENSP00000075120:R454C	R	-	1	0	SLC2A3	7965407	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	3.184000	0.50926	0.885000	0.36088	0.491000	0.48974	CGT		0.488	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931		14	125	0	0	0	1	0	14	125				
DAB2	1601	broad.mit.edu	37	5	39394362	39394362	+	Missense_Mutation	SNP	T	T	C			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr5:39394362T>C	ENST00000320816.6	-	2	528	c.61A>G	c.(61-63)Aaa>Gaa	p.K21E	DAB2_ENST00000339788.6_Missense_Mutation_p.K21E|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000545653.1_Missense_Mutation_p.K21E|DAB2_ENST00000509337.1_Missense_Mutation_p.K21E	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	21					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GAGGGTGCTTTTGGTGCGGCC	0.488																																						ENST00000320816.6																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(61-63)Aaa>Gaa		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)							157.0	136.0	143.0					5																	39394362		2203	4300	6503	SO:0001583	missense	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39394362T>C	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.61A>G	5.37:g.39394362T>C	ENSP00000313391:p.Lys21Glu					DAB2_ENST00000509337.1_Missense_Mutation_p.K21E|DAB2_ENST00000339788.6_Missense_Mutation_p.K21E|DAB2_ENST00000545653.1_Missense_Mutation_p.K21E	p.K21E	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Epithelial(62;0.137)		2	528	-	all_lung(31;0.000197)		21					A6NES5|Q13598|Q9BTY0|Q9UK04	Missense_Mutation	SNP	ENST00000320816.6	37	c.61A>G	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.875691	0.91664	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337;ENST00000511792;ENST00000503513;ENST00000515700	T;T;T;T	0.42900	0.96;1.04;0.97;0.97	5.75	5.75	0.90469	.	0.124547	0.64402	D	0.000001	T	0.64327	0.2588	M	0.72894	2.215	0.48830	D	0.999715	D;D	0.69078	0.997;0.962	D;P	0.75020	0.985;0.605	T	0.67715	-0.5599	10	0.72032	D	0.01	-10.322	16.0521	0.80772	0.0:0.0:0.0:1.0	.	21;21	P98082;P98082-3	DAB2_HUMAN;.	E	21	ENSP00000313391:K21E;ENSP00000345508:K21E;ENSP00000439919:K21E;ENSP00000426245:K21E	ENSP00000313391:K21E	K	-	1	0	DAB2	39430119	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.295000	0.65692	2.193000	0.70182	0.459000	0.35465	AAA		0.488	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		31	31	0	0	0	1	0	31	31				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	37	0	0	0	1	0	3	37				
DOCK8	81704	broad.mit.edu	37	9	368051	368051	+	Missense_Mutation	SNP	C	C	A	rs200295708		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr9:368051C>A	ENST00000453981.1	+	15	1825	c.1713C>A	c.(1711-1713)aaC>aaA	p.N571K	DOCK8_ENST00000432829.2_Missense_Mutation_p.N503K|DOCK8_ENST00000382329.1_5'UTR|DOCK8_ENST00000469391.1_Missense_Mutation_p.N503K|DOCK8_ENST00000382331.1_5'UTR			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	571	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGAGGCTGAACTTTGTAAACA	0.393																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(1507-1509)aaC>aaA		dedicator of cytokinesis 8							101.0	91.0	95.0					9																	368051		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:368051C>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1713C>A	9.37:g.368051C>A	ENSP00000408464:p.Asn571Lys					DOCK8_ENST00000382329.1_5'UTR|DOCK8_ENST00000469391.1_Missense_Mutation_p.N503K|DOCK8_ENST00000453981.1_Missense_Mutation_p.N571K|DOCK8_ENST00000382331.1_5'UTR	p.N503K	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	15	1825	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	571			DHR-1.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.1509C>A	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	19.10	3.762080	0.69763	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	T;T;T	0.13657	2.57;2.57;2.57	5.15	3.29	0.37713	.	0.000000	0.85682	D	0.000000	T	0.18676	0.0448	L	0.35249	1.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.18967	-1.0320	10	0.15499	T	0.54	.	5.3283	0.15918	0.0:0.606:0.0:0.394	.	503;571	E9PH09;Q8NF50	.;DOCK8_HUMAN	K	571;571;503;503	ENSP00000408464:N571K;ENSP00000394888:N503K;ENSP00000419438:N503K	ENSP00000287364:N571K	N	+	3	2	DOCK8	358051	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	2.272000	0.43373	1.330000	0.45394	0.650000	0.86243	AAC		0.393	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		6	69	1	0	1.06961e-07	1	1.12055e-07	6	69				
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr3:129268107_129268108insA	ENST00000324382.2	+	3	647_648	c.642_643insA	c.(643-645)aggfs	p.R215fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.R76fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	215					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653																																						ENST00000324382.2																			0				endometrium(1)|lung(4)|skin(1)	6						c.(640-645)gcggaafs		H1 histone family, member O, oocyte-specific																																				SO:0001589	frameshift_variant	132243				meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	g.chr3:129268107_129268108insA	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"""Histones / Replication-independent"""	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.643dupA	3.37:g.129268108_129268108dupA	ENSP00000319799:p.Arg215fs					H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs	p.E215fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN			3	647_648	+			215					Q86WT7	Frame_Shift_Ins	INS	ENST00000324382.2	37	c.642_643insA	CCDS3064.1																																																																																				0.653	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3	NM_153833		2	4						2	4	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37046252	37046258	+	Frame_Shift_Del	DEL	TACAAAA	TACAAAA	-	rs138404850		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr5:37046252_37046258delTACAAAA	ENST00000282516.8	+	38	7039_7045	c.6540_6546delTACAAAA	c.(6538-6546)tttacaaaafs	p.FTK2180fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.FTK2180fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2180					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGATGTATTTTACAAAACACTCAGATG	0.29																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6538-6546)ttfs		Nipped-B homolog (Drosophila)																																				SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37046252_37046258delTACAAAA	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6540_6546delTACAAAA	5.37:g.37046252_37046258delTACAAAA	ENSP00000282516:p.Phe2180fs					NIPBL_ENST00000448238.2_Frame_Shift_Del_p.FTK2180fs	p.FTK2180fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		38	7039_7045	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2180					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	c.6540_6546delTACAAAA	CCDS3920.1																																																																																				0.290	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		19	40						19	40	---	---	---	---
RP11-377D9.3	0	broad.mit.edu	37	12	13174142	13174147	+	lincRNA	DEL	AACAAC	AACAAC	-	rs113537246		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:13174142_13174147delAACAAC	ENST00000543321.1	+	0	1025																											ctgtctcaaaaacaacaacaacaaca	0.553																																						ENST00000543321.1																			0																																																			0							g.chr12:13174142_13174147delAACAAC																													12.37:g.13174148_13174153delAACAAC														0	1025	+									RNA	DEL	ENST00000543321.1	37																																																																																						0.553	RP11-377D9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401005.1			5	6						5	6	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																						ENST00000252244.3																			3	Deletion - In frame(3)	p.S557_G563delSSYGSGG(3)	prostate(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1654-1677)tac>ta		keratin 1				1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del						p.YGSGGSSY552del	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1714_1734	-			552			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		6	7						6	7	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			4	3						4	3	---	---	---	---
AMZ2P1	201283	broad.mit.edu	37	17	62969193	62969193	+	RNA	DEL	A	A	-			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr17:62969193delA	ENST00000430983.1	-	0	1290					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		GATATGAATTAAAAAAAAATG	0.328																																						ENST00000430983.1																			0																																																			0							g.chr17:62969193delA	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62969193delA								NR_026903.1						0	1290	-									RNA	DEL	ENST00000430983.1	37																																																																																						0.328	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		3	6						3	6	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38901984	38901984	+	Frame_Shift_Del	DEL	C	C	-			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr22:38901984delC	ENST00000396821.3	-	1	358	c.259delG	c.(259-261)gacfs	p.D87fs	DDX17_ENST00000432525.1_Intron|DDX17_ENST00000381633.3_Frame_Shift_Del_p.D8fs	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	87					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CGGTCCCGGTCCCCAAAGCCT	0.701																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(259-261)acfs		DEAD (Asp-Glu-Ala-Asp) box helicase 17							10.0	12.0	11.0					22																	38901984		2194	4282	6476	SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38901984delC	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.259delG	22.37:g.38901984delC	ENSP00000380033:p.Asp87fs					DDX17_ENST00000381633.3_Frame_Shift_Del_p.D8fs|DDX17_ENST00000432525.1_Intron	p.D87fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			1	358	-	Melanoma(58;0.0286)		8					B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Del	DEL	ENST00000396821.3	37	c.259delG	CCDS46706.1																																																																																				0.701	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		2	4						2	4	---	---	---	---
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	lincRNA	INS	-	-	A	rs397771084|rs58093396		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174				MIR545_ENST00000385085.1_RNA|MIR374A_ENST00000362298.1_RNA					FTX transcript, XIST regulator (non-protein coding)																		acctgtcccttaaaaaaaaaaa	0.455													|||unknown(HR)	2504	0.663311	0.4841	0.4856	3775	,	,		12960	0.5714		0.5	False		,,,				2504	0.4581					ENST00000429124.1																			0																																																			0							g.chrX:73506653_73506654insA	AK057701		Xq13.2	2013-12-18	2011-04-21	2011-04-21	ENSG00000230590	ENSG00000230590		"""Long non-coding RNAs"", ""-"""	37190	non-coding RNA	RNA, long non-coding	"""five prime to XIST"""		"""non-protein coding RNA 182"", ""mir-374a-545 cluster host gene (non-protein coding)"""	NCRNA00182, MIR374AHG		12045143, 21254562, 21118898	Standard	NR_028379		Approved	LINC00182, FLJ33139	uc010nlq.1		OTTHUMG00000021850		X.37:g.73506664_73506664dupA														0	174	-									RNA	INS	ENST00000429124.1	37																																																																																						0.455	FTX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057255.2	NR_028379		3	5						3	5	---	---	---	---
