#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
TTC30B	150737	broad.mit.edu	37	2	178416956	178416956	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:178416956G>A	ENST00000408939.3	-	1	786	c.536C>T	c.(535-537)gCc>gTc	p.A179V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	179				Missing (in Ref. 1; BAB70953). {ECO:0000305}.	cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTGCAGGGCGGCAAAAAACTT	0.542																																						ENST00000408939.2																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(535-537)gCc>gTc		tetratricopeptide repeat domain 30B							115.0	127.0	123.0					2																	178416956		2203	4300	6503	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416956G>A	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.536C>T	2.37:g.178416956G>A	ENSP00000386181:p.Ala179Val						p.A179V	NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		1	786	-			179	Missing (in Ref. 1; BAB70953).				Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.536C>T	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	G	7.756	0.704449	0.15172	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.60299	0.2	4.51	4.51	0.55191	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.247267	0.40818	N	0.001008	T	0.51312	0.1667	L	0.42245	1.32	0.20638	N	0.999874	B	0.14805	0.011	B	0.25759	0.063	T	0.45056	-0.9287	10	0.38643	T	0.18	.	14.578	0.68265	0.0:0.1577:0.8423:0.0	.	179	Q8N4P2	TT30B_HUMAN	V	132;179	ENSP00000386181:A179V	ENSP00000386181:A179V	A	-	2	0	TTC30B	178125202	0.007000	0.16637	0.731000	0.30826	0.099000	0.18886	1.796000	0.38794	2.487000	0.83934	0.655000	0.94253	GCC		0.542	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517		4	96	0	0	0	1	0	4	96				
GPR132	29933	broad.mit.edu	37	14	105518014	105518014	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr14:105518014G>A	ENST00000329797.3	-	4	1371	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	GPR132_ENST00000392585.2_Missense_Mutation_p.R145C|GPR132_ENST00000539291.2_Missense_Mutation_p.R154C|GPR132_ENST00000546679.1_5'UTR	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	154	Poly-Arg.				G1/S transition of mitotic cell cycle (GO:0000082)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CTCCGGCGGCGGCGGCCCCGA	0.612																																						ENST00000329797.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(460-462)Cgc>Tgc		G protein-coupled receptor 132							61.0	57.0	59.0					14																	105518014		2203	4300	6503	SO:0001583	missense	29933				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr14:105518014G>A	AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484		"""GPCR / Class A : Orphans"""	17482	protein-coding gene	gene with protein product	"""G2 accumulation"""	606167				12086852	Standard	NM_013345		Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000329797.3:c.460C>T	14.37:g.105518014G>A	ENSP00000328818:p.Arg154Cys					GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.R154C|GPR132_ENST00000392585.2_Missense_Mutation_p.R145C	p.R154C	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)	4	1371	-		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	154			Poly-Arg.		A8K7X7|B4E144|Q9BSU2	Missense_Mutation	SNP	ENST00000329797.3	37	c.460C>T	CCDS9997.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.844320	0.51164	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.39406	1.08;1.08;1.08	4.97	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	H	0.94385	3.53	0.46260	D	0.998955	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77178	-0.2683	10	0.87932	D	0	.	9.87	0.41168	0.0:0.0:0.5835:0.4165	.	145;154	B4E144;Q9UNW8	.;GP132_HUMAN	C	154;145;154	ENSP00000328818:R154C;ENSP00000376364:R145C;ENSP00000438094:R154C	ENSP00000328818:R154C	R	-	1	0	GPR132	104589059	0.989000	0.36119	0.282000	0.24776	0.168000	0.22595	2.388000	0.44398	2.283000	0.76528	0.563000	0.77884	CGC		0.612	GPR132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409278.1	NM_013345		34	30	0	0	0	1	0	34	30				
ZSCAN20	7579	broad.mit.edu	37	1	33960315	33960315	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr1:33960315G>C	ENST00000361328.3	+	8	2524	c.2371G>C	c.(2371-2373)Gaa>Caa	p.E791Q		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	791					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCACACGGGGGAAAAGCCCTA	0.443																																						ENST00000361328.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31						c.(2371-2373)Gaa>Caa		zinc finger and SCAN domain containing 20							79.0	83.0	82.0					1																	33960315		2046	4235	6281	SO:0001583	missense	7579				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:33960315G>C	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2371G>C	1.37:g.33960315G>C	ENSP00000355053:p.Glu791Gln						p.E791Q	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN			8	2524	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	791					A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	c.2371G>C	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657866	0.88154	.	.	ENSG00000121903	ENST00000326544;ENST00000361328;ENST00000401072	.	.	.	5.9	5.9	0.94986	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.098280	0.44285	D	0.000477	T	0.78710	0.4326	M	0.76574	2.34	0.48185	D	0.999602	D;D	0.76494	0.999;0.992	D;P	0.65773	0.938;0.88	T	0.79729	-0.1681	9	0.66056	D	0.02	-11.2782	17.7603	0.88462	0.0:0.0:1.0:0.0	.	790;791	P17040-3;P17040	.;ZSC20_HUMAN	Q	791;725;725	.	ENSP00000324450:E791Q	E	+	1	0	ZSCAN20	33732902	1.000000	0.71417	0.794000	0.32065	0.987000	0.75469	8.008000	0.88588	2.786000	0.95864	0.561000	0.74099	GAA		0.443	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238		25	71	0	0	0	1	0	25	71				
HLA-V	352962	broad.mit.edu	37	6	29761785	29761785	+	RNA	SNP	A	A	G			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr6:29761785A>G	ENST00000457107.1	+	0	1011									major histocompatibility complex, class I, V (pseudogene)																		attggtgcaaagccctgcttc	0.557																																						ENST00000457107.1																			0																																																			0							g.chr6:29761785A>G	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29761785A>G														0	1011	+									RNA	SNP	ENST00000457107.1	37																																																																																						0.557	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		2	1	0	0	0	1	0	2	1				
IPO8	10526	broad.mit.edu	37	12	30843474	30843474	+	Missense_Mutation	SNP	C	C	T	rs372704582		TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr12:30843474C>T	ENST00000256079.4	-	2	460	c.122G>A	c.(121-123)cGg>cAg	p.R41Q	IPO8_ENST00000538338.1_5'Flank	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	41	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GACTATAATCCGAAGTAAACT	0.343																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(121-123)cGg>cAg		importin 8		C	GLN/ARG	0,4406		0,0,2203	114.0	130.0	125.0		122	4.1	1.0	12		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	IPO8	NM_006390.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	41/1038	30843474	1,13005	2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30843474C>T	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.122G>A	12.37:g.30843474C>T	ENSP00000256079:p.Arg41Gln						p.R41Q	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			2	460	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		41			Importin N-terminal.		B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.122G>A	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788724	0.31685	0.0	1.16E-4	ENSG00000133704	ENST00000256079;ENST00000545077	T;T	0.63913	-0.07;3.66	5.11	4.14	0.48551	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.057210	0.64402	D	0.000001	T	0.16769	0.0403	N	0.00185	-1.9	0.80722	D	1	B	0.12013	0.005	B	0.06405	0.002	T	0.47535	-0.9110	10	0.02654	T	1	-23.6641	4.1421	0.10198	0.0:0.7032:0.0:0.2968	.	41	O15397	IPO8_HUMAN	Q	41;24	ENSP00000256079:R41Q;ENSP00000446254:R24Q	ENSP00000256079:R41Q	R	-	2	0	IPO8	30734741	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	4.331000	0.59273	2.639000	0.89480	0.655000	0.94253	CGG		0.343	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		16	80	0	0	0	1	0	16	80				
TP53	7157	broad.mit.edu	37	17	7579329	7579329	+	Missense_Mutation	SNP	T	T	C	rs121912658		TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr17:7579329T>C	ENST00000269305.4	-	4	547	c.358A>G	c.(358-360)Aag>Gag	p.K120E	TP53_ENST00000420246.2_Missense_Mutation_p.K120E|TP53_ENST00000455263.2_Missense_Mutation_p.K120E|TP53_ENST00000445888.2_Missense_Mutation_p.K120E|TP53_ENST00000359597.4_Missense_Mutation_p.K120E|TP53_ENST00000413465.2_Missense_Mutation_p.K120E|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	120	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.	Interaction with DNA.	K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.K120E(3)|p.G59fs*23(3)|p.K120*(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.K120Q(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.K120fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCACAGACTTGGCTGTCCCA	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		26	Deletion - Frameshift(10)|Whole gene deletion(8)|Substitution - Missense(4)|Deletion - In frame(2)|Substitution - Nonsense(2)	p.0?(8)|p.K120E(3)|p.G59fs*23(3)|p.K120*(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.K120Q(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.K120fs*3(1)	upper_aerodigestive_tract(5)|lung(4)|bone(4)|breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|stomach(1)|liver(1)|ovary(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM921039	TP53	M	rs121912658	c.(358-360)Aag>Gag	Other conserved DNA damage response genes	tumor protein p53							66.0	61.0	63.0					17																	7579329		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579329T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.358A>G	17.37:g.7579329T>C	ENSP00000269305:p.Lys120Glu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.K120E|TP53_ENST00000455263.2_Missense_Mutation_p.K120E|TP53_ENST00000413465.2_Missense_Mutation_p.K120E|TP53_ENST00000359597.4_Missense_Mutation_p.K120E|TP53_ENST00000445888.2_Missense_Mutation_p.K120E	p.K120E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	490	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	120		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.	Interaction with DNA.	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.358A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565227	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.993;1.0;0.999;0.999	D;D;D;D;D;D;D	0.97110	0.995;0.998;1.0;0.979;1.0;1.0;0.993	D	0.96452	0.9335	10	0.87932	D	0	-37.4061	12.5363	0.56144	0.0:0.0:0.0:1.0	.	81;120;120;120;120;120;120	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	120	ENSP00000410739:K120E;ENSP00000352610:K120E;ENSP00000269305:K120E;ENSP00000398846:K120E;ENSP00000391127:K120E;ENSP00000391478:K120E;ENSP00000424104:K120E;ENSP00000426252:K120E	ENSP00000269305:K120E	K	-	1	0	TP53	7520054	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.383000	0.73172	2.125000	0.65367	0.533000	0.62120	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	23	0	0	0	1	0	28	23				
GRIA4	2893	broad.mit.edu	37	11	105769151	105769151	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr11:105769151A>G	ENST00000530497.1	+	6	883	c.883A>G	c.(883-885)Aag>Gag	p.K295E	GRIA4_ENST00000428631.2_Missense_Mutation_p.K295E|GRIA4_ENST00000393125.2_Missense_Mutation_p.K295E|GRIA4_ENST00000525187.1_Missense_Mutation_p.K295E|GRIA4_ENST00000393127.2_Missense_Mutation_p.K295E|GRIA4_ENST00000282499.5_Missense_Mutation_p.K295E			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	295					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		GACTCCTCCAAAGGTATTTGT	0.313																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(883-885)Aag>Gag		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						44.0	45.0	45.0					11																	105769151		2202	4299	6501	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105769151A>G	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.883A>G	11.37:g.105769151A>G	ENSP00000435775:p.Lys295Glu					GRIA4_ENST00000525187.1_Missense_Mutation_p.K295E|GRIA4_ENST00000282499.5_Missense_Mutation_p.K295E|GRIA4_ENST00000530497.1_Missense_Mutation_p.K295E|GRIA4_ENST00000428631.2_Missense_Mutation_p.K295E|GRIA4_ENST00000393125.2_Missense_Mutation_p.K295E	p.K295E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	7	1329	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	295					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.883A>G	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.940211	0.73557	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.367744	0.26314	N	0.025092	T	0.32675	0.0837	M	0.63843	1.955	0.80722	D	1	B;P;B	0.41393	0.277;0.748;0.17	B;P;B	0.45753	0.297;0.492;0.158	T	0.05954	-1.0854	10	0.72032	D	0.01	.	16.0037	0.80327	1.0:0.0:0.0:0.0	.	295;295;295	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	E	295	ENSP00000376833:K295E;ENSP00000282499:K295E;ENSP00000376835:K295E;ENSP00000415551:K295E;ENSP00000435775:K295E;ENSP00000432180:K295E	ENSP00000282499:K295E	K	+	1	0	GRIA4	105274361	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.979000	0.76154	2.184000	0.69523	0.533000	0.62120	AAG		0.313	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			21	37	0	0	0	1	0	21	37				
ACSM4	341392	broad.mit.edu	37	12	7475909	7475909	+	Splice_Site	SNP	A	A	G			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr12:7475909A>G	ENST00000399422.4	+	8	1253	c.1205A>G	c.(1204-1206)cAg>cGg	p.Q402R		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	402					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						TATGATGTCCAGGTAGGTTGA	0.398																																						ENST00000399422.4																			0				endometrium(6)|kidney(1)|lung(14)	21						c.e8+1		acyl-CoA synthetase medium-chain family member 4							51.0	49.0	50.0					12																	7475909		1873	4115	5988	SO:0001630	splice_region_variant	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7475909A>G		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1206+1A>G	12.37:g.7475909A>G							p.Q402_splice	NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN			8	1253	+			402					A8MTI6	Splice_Site	SNP	ENST00000399422.4	37	c.1206_splice	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212482	0.58452	.	.	ENSG00000215009	ENST00000399422	T	0.37584	1.19	3.64	3.64	0.41730	AMP-dependent synthetase/ligase (1);	0.209202	0.23569	U	0.046773	T	0.21550	0.0519	N	0.05259	-0.085	0.58432	D	0.999996	P	0.35507	0.506	B	0.40636	0.335	T	0.09751	-1.0660	10	0.35671	T	0.21	-1.4269	10.8397	0.46708	1.0:0.0:0.0:0.0	.	402	P0C7M7	ACSM4_HUMAN	R	402	ENSP00000382349:Q402R	ENSP00000382349:Q402R	Q	+	2	0	ACSM4	7367176	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.891000	0.69782	1.607000	0.50170	0.455000	0.32223	CAG		0.398	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454	Missense_Mutation	3	7	0	0	0	1	0	3	7				
FHOD1	29109	broad.mit.edu	37	16	67267991	67267991	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr16:67267991G>A	ENST00000258201.4	-	13	1862	c.1615C>T	c.(1615-1617)Ctc>Ttc	p.L539F		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	539	FH1.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCAATAGAGAGCCTGGGTGCA	0.597																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(1615-1617)Ctc>Ttc		formin homology 2 domain containing 1							86.0	92.0	90.0					16																	67267991		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67267991G>A	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1615C>T	16.37:g.67267991G>A	ENSP00000258201:p.Leu539Phe					FHOD1_ENST00000567687.1_Missense_Mutation_p.L118F	p.L539F	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	13	1862	-		Ovarian(137;0.0563)	539			FH1.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.1615C>T	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139662	0.56936	.	.	ENSG00000135723	ENST00000258201	T	0.61510	0.1	5.2	4.22	0.49857	.	0.143577	0.47455	D	0.000223	T	0.74935	0.3782	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.946	T	0.78295	-0.2259	10	0.72032	D	0.01	.	12.6226	0.56612	0.0:0.1669:0.8331:0.0	.	118;539	B4DVN5;Q9Y613	.;FHOD1_HUMAN	F	539	ENSP00000258201:L539F	ENSP00000258201:L539F	L	-	1	0	FHOD1	65825492	1.000000	0.71417	0.971000	0.41717	0.503000	0.33858	2.933000	0.48948	1.152000	0.42452	0.561000	0.74099	CTC		0.597	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			40	64	0	0	0	1	0	40	64				
ZNF860	344787	broad.mit.edu	37	3	32031962	32031962	+	Missense_Mutation	SNP	A	A	G	rs1808125	byFrequency	TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr3:32031962A>G	ENST00000360311.4	+	2	1940	c.1391A>G	c.(1390-1392)cAt>cGt	p.H464R		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	464					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCATCACAATTCA	0.418													a|||	3114	0.621805	0.9054	0.4813	5008	,	,		19471	0.7599		0.2773	False		,,,				2504	0.5501					ENST00000360311.4																			0				endometrium(3)|lung(4)|ovary(1)	8						c.(1390-1392)cAt>cGt		zinc finger protein 860							22.0	58.0	48.0					3																	32031962		627	1568	2195	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031962A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1391A>G	3.37:g.32031962A>G	ENSP00000373274:p.His464Arg						p.H464R	NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN			2	1940	+			464					B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1391A>G	CCDS46784.1	991	0.45375457875457875	324	0.6585365853658537	145	0.4005524861878453	368	0.6433566433566433	154	0.20316622691292877	a	0.169	-1.073378	0.01918	.	.	ENSG00000197385	ENST00000360311	T	0.17370	2.28	0.3	-0.599	0.11645	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00012	0.0000	N	0.00399	-1.545	0.80722	P	0.0	B	0.11235	0.004	B	0.04013	0.001	T	0.42032	-0.9475	7	.	.	.	.	4.0852	0.09943	0.2146:0.4157:0.3696:0.0	rs1808125;rs60384157	464	A6NHJ4	ZN860_HUMAN	R	464	ENSP00000373274:H464R	.	H	+	2	0	ZNF860	32006966	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.083000	0.03397	-3.961000	0.00087	-3.988000	0.00014	CAT		0.418	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			4	75	0	0	0	1	0	4	75				
KIAA1217	56243	broad.mit.edu	37	10	24813330	24813330	+	Silent	SNP	C	C	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr10:24813330C>T	ENST00000376454.3	+	13	2565	c.2535C>T	c.(2533-2535)gcC>gcT	p.A845A	KIAA1217_ENST00000376452.3_Silent_p.A810A|KIAA1217_ENST00000376451.2_Silent_p.A528A|KIAA1217_ENST00000458595.1_Silent_p.A810A|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Silent_p.A765A|KIAA1217_ENST00000396446.1_Silent_p.A528A|KIAA1217_ENST00000307544.6_Silent_p.A528A|KIAA1217_ENST00000396445.1_Silent_p.A528A	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	845					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						AGGCCACAGCCGCAGAAGTCC	0.607																																						ENST00000376451.2																			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.(1582-1584)gcC>gcT		KIAA1217							63.0	64.0	64.0					10																	24813330		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24813330C>T	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.2535C>T	10.37:g.24813330C>T						KIAA1217_ENST00000396446.1_Silent_p.A528A|KIAA1217_ENST00000458595.1_Silent_p.A810A|KIAA1217_ENST00000307544.6_Silent_p.A528A|KIAA1217_ENST00000376452.3_Silent_p.A810A|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396445.1_Silent_p.A528A|KIAA1217_ENST00000376462.1_Silent_p.A765A|KIAA1217_ENST00000376454.3_Silent_p.A845A	p.A528A			Q5T5P2	SKT_HUMAN			8	1844	+			845					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.1584C>T	CCDS31165.1																																																																																				0.607	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		3	36	0	0	0	1	0	3	36				
MAST1	22983	broad.mit.edu	37	19	12976207	12976207	+	Silent	SNP	T	T	C			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr19:12976207T>C	ENST00000251472.4	+	15	1755	c.1716T>C	c.(1714-1716)gcT>gcC	p.A572A		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACTGGTGGGCTATGGGGATCA	0.607																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(1714-1716)gcT>gcC		microtubule associated serine/threonine kinase 1							121.0	109.0	113.0					19																	12976207		2203	4300	6503	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12976207T>C	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1716T>C	19.37:g.12976207T>C							p.A572A	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			15	1755	+			572			Protein kinase.			Silent	SNP	ENST00000251472.4	37	c.1716T>C	CCDS32921.1																																																																																				0.607	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		5	81	0	0	0	1	0	5	81				
KMT2C	58508	broad.mit.edu	37	7	151945155	151945155	+	Silent	SNP	A	A	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr7:151945155A>T	ENST00000262189.6	-	14	2582	c.2364T>A	c.(2362-2364)tcT>tcA	p.S788S	KMT2C_ENST00000355193.2_Silent_p.S788S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	788					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GCAAGTCTGAAGAAGGTGTTG	0.433																																						ENST00000355193.2																			0											c.(2362-2364)tcT>tcA		lysine (K)-specific methyltransferase 2C							417.0	375.0	390.0					7																	151945155		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151945155A>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2364T>A	7.37:g.151945155A>T						KMT2C_ENST00000262189.6_Silent_p.S788S	p.S788S							14	2582	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.2364T>A	CCDS5931.1																																																																																				0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			13	295	0	0	0	1	0	13	295				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	50	0	0	0	1	0	23	50				
MXRA5	25878	broad.mit.edu	37	X	3228566	3228566	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chrX:3228566T>C	ENST00000217939.6	-	7	7832	c.7678A>G	c.(7678-7680)Atc>Gtc	p.I2560V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2560	Ig-like C2-type 10.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGAGGCTGATGGTGTGGCCC	0.632																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(7678-7680)Atc>Gtc		matrix-remodelling associated 5							16.0	17.0	17.0					X																	3228566		2194	4287	6481	SO:0001583	missense	25878					extracellular region		g.chrX:3228566T>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7678A>G	X.37:g.3228566T>C	ENSP00000217939:p.Ile2560Val						p.I2560V	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	7832	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2560			Ig-like C2-type 10.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.7678A>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.041014	0.55003	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	D	0.94897	-3.55	4.05	4.05	0.47172	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38778	U	0.001567	D	0.87136	0.6102	N	0.03084	-0.415	0.32065	N	0.595184	P	0.36599	0.56	P	0.47891	0.56	D	0.84237	0.0470	10	0.09338	T	0.73	.	7.6026	0.28085	0.0:0.0991:0.0:0.9009	.	2560	Q9NR99	MXRA5_HUMAN	V	2560	ENSP00000217939:I2560V	ENSP00000217939:I2560V	I	-	1	0	MXRA5	3238566	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	1.533000	0.36040	1.333000	0.45449	0.483000	0.47432	ATC		0.632	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		5	0	0	0	0	1	0	5	0				
CASP8	841	broad.mit.edu	37	2	202149727	202149727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:202149727G>A	ENST00000432109.2	+	9	1180	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	CASP8_ENST00000323492.7_Missense_Mutation_p.A316T|CASP8_ENST00000264274.9_Missense_Mutation_p.A247T|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.A348T|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000358485.4_Missense_Mutation_p.A390T	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	331				A -> P (in Ref. 2; AAC50602 and 5; AAD24962). {ECO:0000305}.	activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGGACAGGAGGCCCCCATCTA	0.483										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1168-1170)Gcc>Acc		caspase 8, apoptosis-related cysteine peptidase							152.0	131.0	138.0					2																	202149727		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149727G>A	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.991G>A	2.37:g.202149727G>A	ENSP00000412523:p.Ala331Thr	HNSCC(4;0.00038)				CASP8_ENST00000432109.2_Missense_Mutation_p.A331T|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.A247T|CASP8_ENST00000264275.5_Missense_Mutation_p.A348T|CASP8_ENST00000323492.7_Missense_Mutation_p.A316T	p.A390T	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1364	+			331					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.1168G>A	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037451	0.35989	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.68	5.68	0.88126	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.365273	0.31404	N	0.007717	T	0.34948	0.0915	L	0.47190	1.495	0.80722	D	1	D;P;B;B;P	0.69078	0.997;0.948;0.342;0.415;0.948	P;P;B;B;P	0.61533	0.89;0.596;0.104;0.063;0.596	T	0.00875	-1.1531	10	0.33141	T	0.24	.	13.9977	0.64411	0.0723:0.0:0.9277:0.0	.	247;390;331;316;348	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	T	316;247;331;348;390;316;110	ENSP00000376091:A316T;ENSP00000264274:A247T;ENSP00000412523:A331T;ENSP00000264275:A348T;ENSP00000351273:A390T;ENSP00000325722:A316T;ENSP00000394434:A110T	ENSP00000264274:A247T	A	+	1	0	CASP8	201857972	0.965000	0.33210	0.637000	0.29366	0.346000	0.29079	4.523000	0.60545	2.687000	0.91594	0.561000	0.74099	GCC		0.483	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		39	61	0	0	0	1	0	39	61				
CLMN	79789	broad.mit.edu	37	14	95669569	95669569	+	Missense_Mutation	SNP	T	T	C	rs145305362		TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr14:95669569T>C	ENST00000298912.4	-	9	2230	c.2117A>G	c.(2116-2118)gAa>gGa	p.E706G		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	706					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ATCCAGGCCTTCTTCGCTGTG	0.567																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(2116-2118)gAa>gGa		calmin (calponin-like, transmembrane)		T	GLY/GLU	1,4405	2.1+/-5.4	0,1,2202	49.0	50.0	49.0		2117	4.2	0.1	14	dbSNP_134	49	0,8600		0,0,4300	no	missense	CLMN	NM_024734.3	98	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging	706/1003	95669569	1,13005	2203	4300	6503	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95669569T>C	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2117A>G	14.37:g.95669569T>C	ENSP00000298912:p.Glu706Gly						p.E706G	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	2230	-			706					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.2117A>G	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	T	11.41	1.632013	0.29068	2.27E-4	0.0	ENSG00000165959	ENST00000298912	D	0.94457	-3.43	5.41	4.19	0.49359	.	0.167861	0.28431	N	0.015368	D	0.91482	0.7311	M	0.61703	1.905	0.31249	N	0.694313	P	0.39282	0.666	B	0.35039	0.194	D	0.92160	0.5735	10	0.72032	D	0.01	.	9.7659	0.40561	0.1535:0.0:0.0:0.8465	.	706	Q96JQ2	CLMN_HUMAN	G	706	ENSP00000298912:E706G	ENSP00000298912:E706G	E	-	2	0	CLMN	94739322	0.057000	0.20700	0.115000	0.21578	0.196000	0.23810	0.532000	0.23067	2.050000	0.60909	0.491000	0.48974	GAA		0.567	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			22	36	0	0	0	1	0	22	36				
CYP11B2	1585	broad.mit.edu	37	8	143999219	143999219	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr8:143999219G>A	ENST00000323110.2	-	1	40	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	13					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CAGCCAGGGCGCTGCCACGCA	0.632									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(37-39)gCg>gTg		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						99.0	100.0	100.0					8																	143999219		2203	4300	6503	SO:0001583	missense	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143999219G>A	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.38C>T	8.37:g.143999219G>A	ENSP00000325822:p.Ala13Val						p.A13V	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			1	40	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		13					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.38C>T	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	6.972	0.549253	0.13374	.	.	ENSG00000179142	ENST00000323110	T	0.74842	-0.88	2.94	-1.41	0.08941	.	.	.	.	.	T	0.42988	0.1227	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.26189	-1.0110	9	0.27082	T	0.32	.	6.643	0.22919	0.2437:0.2976:0.4587:0.0	.	13	P19099	C11B2_HUMAN	V	13	ENSP00000325822:A13V	ENSP00000325822:A13V	A	-	2	0	CYP11B2	143996221	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-1.199000	0.03032	-0.333000	0.08476	-2.756000	0.00123	GCG		0.632	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			93	49	0	0	0	1	0	93	49				
ATRX	546	broad.mit.edu	37	X	76939375	76939375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chrX:76939375G>T	ENST00000373344.5	-	9	1587	c.1373C>A	c.(1372-1374)tCa>tAa	p.S458*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S420*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	458					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCTGACTTTGAAATATCCTT	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1372-1374)tCa>tAa		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						168.0	164.0	165.0					X																	76939375		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939375G>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1373C>A	X.37:g.76939375G>T	ENSP00000362441:p.Ser458*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S420*	p.S458*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1587	-			458					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1373C>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	37	6.256750	0.97417	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	4.89	4.01	0.46588	.	1.207700	0.05811	N	0.613982	.	.	.	.	.	.	0.19575	N	0.999966	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-0.0647	8.8294	0.35074	0.1898:0.0:0.8102:0.0	.	.	.	.	X	458;420;414	.	ENSP00000362441:S458X	S	-	2	0	ATRX	76826031	0.818000	0.29161	0.998000	0.56505	0.983000	0.72400	1.633000	0.37113	0.831000	0.34780	0.509000	0.49947	TCA		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		137	14	1	0	2.23197e-56	1	2.29761e-56	137	14				
BAGE2	85319	broad.mit.edu	37	21	11038897	11038897	+	RNA	SNP	A	A	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr21:11038897A>T	ENST00000470054.1	-	0	1306							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAAGTCTGAAGAAGGTGTTG	0.433																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038897A>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038897A>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1306	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.433	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	282	0	0	0	1	0	5	282				
MDN1	23195	broad.mit.edu	37	6	90397870	90397870	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr6:90397870A>C	ENST00000369393.3	-	67	11397	c.11282T>G	c.(11281-11283)aTt>aGt	p.I3761S	MDN1_ENST00000428876.1_Missense_Mutation_p.I3761S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3761					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAACTACGAATTCTGTCCAT	0.448																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(11281-11283)aTt>aGt		MDN1, midasin homolog (yeast)							185.0	188.0	187.0					6																	90397870		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90397870A>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.11282T>G	6.37:g.90397870A>C	ENSP00000358400:p.Ile3761Ser					MDN1_ENST00000428876.1_Missense_Mutation_p.I3761S	p.I3761S			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	67	11397	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	3761					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.11282T>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740507	0.69304	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.05139	3.49;3.49	5.95	5.95	0.96441	.	0.058144	0.64402	D	0.000003	T	0.16041	0.0386	M	0.81497	2.545	0.80722	D	1	D	0.71674	0.998	P	0.58721	0.844	T	0.00624	-1.1639	10	0.87932	D	0	.	16.4092	0.83701	1.0:0.0:0.0:0.0	.	3761	Q9NU22	MDN1_HUMAN	S	3761	ENSP00000358400:I3761S;ENSP00000413970:I3761S	ENSP00000358400:I3761S	I	-	2	0	MDN1	90454591	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.295000	0.96095	2.276000	0.75962	0.460000	0.39030	ATT		0.448	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			60	83	0	0	0	1	0	60	83				
TUT1	64852	broad.mit.edu	37	11	62342669	62342669	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr11:62342669C>T	ENST00000476907.1	-	9	3213	c.2522G>A	c.(2521-2523)cGa>cAa	p.R841Q	EEF1G_ENST00000329251.4_5'Flank|EEF1G_ENST00000378019.3_5'Flank|MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000532986.1_5'Flank|TUT1_ENST00000308436.7_Missense_Mutation_p.R879Q			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	841					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGTGAGCATTCGGTCAGCCGG	0.567																																						ENST00000476907.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2521-2523)cGa>cAa		terminal uridylyl transferase 1, U6 snRNA-specific							82.0	77.0	79.0					11																	62342669		2202	4299	6501	SO:0001583	missense	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62342669C>T	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.2522G>A	11.37:g.62342669C>T	ENSP00000419607:p.Arg841Gln					TUT1_ENST00000308436.7_Missense_Mutation_p.R879Q|MIR3654_ENST00000496634.2_Intron	p.R841Q			Q9H6E5	STPAP_HUMAN			9	3213	-			841					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.2522G>A		.	.	.	.	.	.	.	.	.	.	C	2.981	-0.210368	0.06140	.	.	ENSG00000149016	ENST00000308436;ENST00000476907	T;T	0.35236	1.32;1.33	4.84	1.31	0.21738	.	0.716433	0.13689	N	0.369673	T	0.08492	0.0211	N	0.00246	-1.78	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36237	-0.9756	10	0.20046	T	0.44	-3.619	7.227	0.26020	0.0:0.2844:0.0:0.7156	.	841;879	Q9H6E5;F5H0R1	STPAP_HUMAN;.	Q	879;841	ENSP00000308000:R879Q;ENSP00000419607:R841Q	ENSP00000308000:R879Q	R	-	2	0	TUT1	62099245	0.012000	0.17670	0.096000	0.21009	0.084000	0.17831	0.333000	0.19768	0.060000	0.16281	-0.302000	0.09304	CGA		0.567	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		4	74	0	0	0	1	0	4	74				
UPK1B	7348	broad.mit.edu	37	3	118913081	118913081	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr3:118913081G>A	ENST00000264234.3	+	6	633	c.484G>A	c.(484-486)Gta>Ata	p.V162I	UPK1B_ENST00000497685.1_Missense_Mutation_p.V82I|UPK1B_ENST00000460625.1_Missense_Mutation_p.V154I	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	162					epithelial cell differentiation (GO:0030855)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		TTGCTGTGGCGTAAATGGTCC	0.428																																						ENST00000264234.3																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14						c.(484-486)Gta>Ata		uroplakin 1B							130.0	117.0	121.0					3																	118913081		2203	4300	6503	SO:0001583	missense	7348				epithelial cell differentiation	integral to membrane	structural molecule activity	g.chr3:118913081G>A	AF082888	CCDS2985.1	3q13.32	2013-02-14			ENSG00000114638	ENSG00000114638		"""Tetraspanins"""	12578	protein-coding gene	gene with protein product		602380		UPK1		9935153, 9846985	Standard	NM_006952		Approved	TSPAN20	uc003ecc.3	O75841	OTTHUMG00000159354	ENST00000264234.3:c.484G>A	3.37:g.118913081G>A	ENSP00000264234:p.Val162Ile					UPK1B_ENST00000460625.1_Missense_Mutation_p.V154I|UPK1B_ENST00000497685.1_Missense_Mutation_p.V82I	p.V162I	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	6	633	+			162					O60753|Q9UIM2|Q9UNX6	Missense_Mutation	SNP	ENST00000264234.3	37	c.484G>A	CCDS2985.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254874	0.59321	.	.	ENSG00000114638	ENST00000497685;ENST00000264234;ENST00000479520;ENST00000494855;ENST00000460625	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	5.76	4.9	0.64082	Tetraspanin, EC2 domain (1);	0.076677	0.51477	D	0.000084	D	0.87657	0.6232	M	0.73217	2.22	0.42575	D	0.993197	D;B	0.89917	1.0;0.012	D;B	0.75020	0.985;0.012	D	0.86589	0.1859	10	0.31617	T	0.26	-4.0718	13.8144	0.63283	0.0741:0.0:0.9259:0.0	.	154;162	C9J9M7;O75841	.;UPK1B_HUMAN	I	82;162;162;162;154	ENSP00000418972:V82I;ENSP00000264234:V162I;ENSP00000418399:V162I;ENSP00000418597:V162I;ENSP00000418116:V154I	ENSP00000264234:V162I	V	+	1	0	UPK1B	120395771	1.000000	0.71417	0.942000	0.38095	0.662000	0.39071	5.350000	0.66016	1.466000	0.48025	-0.350000	0.07774	GTA		0.428	UPK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354883.2			3	59	0	0	0	1	0	3	59				
VIL1	7429	broad.mit.edu	37	2	219305467	219305467	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:219305467A>G	ENST00000248444.5	+	19	2340	c.2252A>G	c.(2251-2253)gAc>gGc	p.D751G	VIL1_ENST00000392114.2_Missense_Mutation_p.D440G	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	751	Headpiece.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAAAGTGGACGTGTTCAAT	0.542																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2251-2253)gAc>gGc		villin 1							90.0	87.0	88.0					2																	219305467		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219305467A>G	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2252A>G	2.37:g.219305467A>G	ENSP00000248444:p.Asp751Gly					VIL1_ENST00000392114.2_Missense_Mutation_p.D440G	p.D751G	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	19	2340	+		Renal(207;0.0474)	751			Headpiece.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.2252A>G	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	A	10.86	1.469729	0.26423	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.13778	2.56;2.56	5.85	3.4	0.38934	Villin headpiece (1);	0.722146	0.12078	N	0.501614	T	0.08447	0.0210	N	0.19112	0.55	0.20563	N	0.999888	B	0.18968	0.032	B	0.15484	0.013	T	0.34527	-0.9825	10	0.26408	T	0.33	-13.6561	6.8371	0.23943	0.7956:0.0:0.0713:0.133	.	751	P09327	VILI_HUMAN	G	751;440	ENSP00000248444:D751G;ENSP00000375962:D440G	ENSP00000248444:D751G	D	+	2	0	VIL1	219013711	0.932000	0.31603	0.004000	0.12327	0.246000	0.25737	3.714000	0.54889	1.053000	0.40415	0.491000	0.48974	GAC		0.542	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		17	34	0	0	0	1	0	17	34				
ITGA10	8515	broad.mit.edu	37	1	145527998	145527998	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr1:145527998delG	ENST00000369304.3	+	3	410	c.235delG	c.(235-237)gggfs	p.G80fs	ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	80					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGCCCTGTAGGGGGGGCCCA	0.582																																						ENST00000369304.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(235-237)ggfs		integrin, alpha 10							8.0	10.0	9.0					1																	145527998		2177	4282	6459	SO:0001589	frameshift_variant	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145527998delG	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.235delG	1.37:g.145527998delG	ENSP00000358310:p.Gly80fs					ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Intron	p.G80fs	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN			3	410	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		80					B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Frame_Shift_Del	DEL	ENST00000369304.3	37	c.235delG	CCDS918.1																																																																																				0.582	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2	NM_003637		2	4						2	4	---	---	---	---
LAD1	3898	broad.mit.edu	37	1	201355872	201355872	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr1:201355872A>G	ENST00000391967.2	-	3	918	c.617T>C	c.(616-618)gTg>gCg	p.V206A	LAD1_ENST00000367313.3_Missense_Mutation_p.V220A	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	206	8 X SEK repeats.					basement membrane (GO:0005604)	structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TGAGGCCAGCACCTTCTCAGA	0.468																																						ENST00000391967.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						c.(616-618)gTg>gCg		ladinin 1							99.0	108.0	105.0					1																	201355872		2203	4300	6503	SO:0001583	missense	3898					basement membrane	structural molecule activity	g.chr1:201355872A>G	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.617T>C	1.37:g.201355872A>G	ENSP00000375829:p.Val206Ala					LAD1_ENST00000367313.3_Missense_Mutation_p.V220A	p.V206A	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN			3	918	-			206			8 X SEK repeats.		O95614|Q96GD8	Missense_Mutation	SNP	ENST00000391967.2	37	c.617T>C	CCDS1410.1	.	.	.	.	.	.	.	.	.	.	A	0.816	-0.750203	0.03041	.	.	ENSG00000159166	ENST00000391967;ENST00000367313	T;T	0.10860	2.86;2.83	5.49	-9.99	0.00435	.	1.462090	0.04053	N	0.305049	T	0.01627	0.0052	N	0.00347	-1.61	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.38308	-0.9667	10	0.08599	T	0.76	-1.7965	2.4891	0.04606	0.2824:0.4071:0.1434:0.1671	.	220;206	E9PDI4;O00515	.;LAD1_HUMAN	A	206;220	ENSP00000375829:V206A;ENSP00000356282:V220A	ENSP00000356282:V220A	V	-	2	0	LAD1	199622495	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.638000	0.02013	-1.302000	0.02335	-2.550000	0.00177	GTG		0.468	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		4	171	0	0	0	1	0	4	171				
APPL1	26060	broad.mit.edu	37	3	57294042	57294042	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr3:57294042delT	ENST00000288266.3	+	17	1800	c.1653delT	c.(1651-1653)tgtfs	p.C551fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	551	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CTTGTGACTGTTTAAAGTAAG	0.313																																						ENST00000288266.3																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27						c.(1651-1653)tgfs		adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1							59.0	57.0	58.0					3																	57294042		2203	4300	6503	SO:0001589	frameshift_variant	26060				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	g.chr3:57294042delT	AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1653delT	3.37:g.57294042delT	ENSP00000288266:p.Cys551fs						p.C551fs	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)	17	1800	+			551			PID.		Q9P2B9	Frame_Shift_Del	DEL	ENST00000288266.3	37	c.1653delT	CCDS2882.1																																																																																				0.313	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2	NM_012096		23	32						23	32	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		7	72						7	72	---	---	---	---
