#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
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	81	0	0	0	1	0	6	81				
CTNNA3	29119	broad.mit.edu	37	10	68535239	68535239	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr10:68535239T>C	ENST00000433211.2	-	8	1265	c.1091A>G	c.(1090-1092)gAc>gGc	p.D364G	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D364G	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACACATGTTGTCTAAAGCAAT	0.378																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1090-1092)gAc>gGc		catenin (cadherin-associated protein), alpha 3							190.0	181.0	184.0					10																	68535239		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68535239T>C	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1091A>G	10.37:g.68535239T>C	ENSP00000389714:p.Asp364Gly					CTNNA3_ENST00000373744.4_Missense_Mutation_p.D364G|CTNNA3_ENST00000494580.1_5'UTR	p.D364G	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			8	1265	-			364						Missense_Mutation	SNP	ENST00000433211.2	37	c.1091A>G	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714550	0.48622	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.50548	0.74;0.74	6.16	5.01	0.66863	.	0.173761	0.39759	N	0.001261	T	0.50446	0.1616	M	0.64404	1.975	0.80722	D	1	B;B	0.24186	0.002;0.099	B;B	0.36885	0.027;0.235	T	0.47761	-0.9092	10	0.44086	T	0.13	-4.756	10.7451	0.46177	0.1469:0.0:0.0:0.8531	.	364;364	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	G	364	ENSP00000389714:D364G;ENSP00000362849:D364G	ENSP00000362849:D364G	D	-	2	0	CTNNA3	68205245	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.112000	0.71547	1.107000	0.41642	0.528000	0.53228	GAC		0.378	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		52	78	0	0	0	1	0	52	78				
SCNN1G	6340	broad.mit.edu	37	16	23197720	23197720	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr16:23197720G>A	ENST00000300061.2	+	2	271	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	43					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGCTGTCGCCGCATCGTGGTG	0.627																																						ENST00000300061.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34						c.(127-129)cGc>cAc		sodium channel, non-voltage-gated 1, gamma subunit	Amiloride(DB00594)|Triamterene(DB00384)						61.0	58.0	59.0					16																	23197720		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23197720G>A	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.128G>A	16.37:g.23197720G>A	ENSP00000300061:p.Arg43His						p.R43H	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	2	271	+			43					P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.128G>A	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.118965	0.56505	.	.	ENSG00000166828	ENST00000300061	T	0.61980	0.06	5.43	4.48	0.54585	.	0.355344	0.26019	N	0.026833	T	0.79034	0.4378	M	0.81682	2.555	0.43076	D	0.99472	D	0.89917	1.0	D	0.91635	0.999	T	0.82157	-0.0596	10	0.87932	D	0	-17.4726	12.9537	0.58415	0.079:0.0:0.921:0.0	.	43	P51170	SCNNG_HUMAN	H	43	ENSP00000300061:R43H	ENSP00000300061:R43H	R	+	2	0	SCNN1G	23105221	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	5.404000	0.66344	1.288000	0.44600	-0.258000	0.10820	CGC		0.627	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		3	36	0	0	0	1	0	3	36				
EEF1A2	1917	broad.mit.edu	37	20	62120282	62120282	+	Missense_Mutation	SNP	T	T	G	rs200931909		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr20:62120282T>G	ENST00000298049.7	-	6	1323	c.1253A>C	c.(1252-1254)tAc>tCc	p.Y418S	EEF1A2_ENST00000217182.3_Missense_Mutation_p.Y418S			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	418					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.Y418S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GAGAGGCGGGTACTGGGAGAA	0.667																																						ENST00000217182.3																			1	Substitution - Missense(1)	p.Y418S(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(1252-1254)tAc>tCc		eukaryotic translation elongation factor 1 alpha 2							28.0	29.0	29.0					20																	62120282		2189	4283	6472	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62120282T>G	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.1253A>C	20.37:g.62120282T>G	ENSP00000298049:p.Tyr418Ser					EEF1A2_ENST00000298049.7_Missense_Mutation_p.Y418S	p.Y418S	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		7	1418	-	all_cancers(38;9.45e-12)		418					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.1253A>C	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511359	0.64522	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.44881	0.91;0.91	3.12	3.12	0.35913	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (1);Translation elongation factor EFTu/EF1A, C-terminal (1);	0.170048	0.39759	N	0.001263	T	0.74405	0.3712	H	0.96142	3.775	0.80722	D	1	P	0.39696	0.683	D	0.68039	0.955	T	0.79629	-0.1724	10	0.87932	D	0	-10.4709	11.6664	0.51376	0.0:0.0:0.0:1.0	.	418	Q05639	EF1A2_HUMAN	S	418	ENSP00000298049:Y418S;ENSP00000217182:Y418S	ENSP00000217182:Y418S	Y	-	2	0	EEF1A2	61590726	1.000000	0.71417	0.999000	0.59377	0.696000	0.40369	5.966000	0.70395	1.187000	0.43000	0.392000	0.25879	TAC		0.667	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		11	12	0	0	0	1	0	11	12				
SUSD4	55061	broad.mit.edu	37	1	223536659	223536659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:223536659G>A	ENST00000343846.3	-	1	742	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000366877.3_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000484758.2_Nonsense_Mutation_p.Q37*			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	37						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCGCCAGCTGAAACCACAGG	0.617																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(109-111)Cag>Tag		sushi domain containing 4							35.0	34.0	35.0					1																	223536659		2203	4299	6502	SO:0001587	stop_gained	55061					integral to membrane		g.chr1:223536659G>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.109C>T	1.37:g.223536659G>A	ENSP00000344219:p.Gln37*					SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000366877.3_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000342943.3_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR	p.Q37*			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	1	742	-			37					D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Nonsense_Mutation	SNP	ENST00000343846.3	37	c.109C>T	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	G	38	6.783931	0.97837	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000271787;ENST00000344029;ENST00000342943;ENST00000366877	.	.	.	4.95	4.95	0.65309	.	0.000000	0.40385	N	0.001105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.5165	15.1087	0.72338	0.0:0.0:1.0:0.0	.	.	.	.	X	37	.	ENSP00000271787:Q37X	Q	-	1	0	SUSD4	221603282	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.075000	0.64407	2.272000	0.75746	0.555000	0.69702	CAG		0.617	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		3	2	0	0	0	1	0	3	2				
GPR173	54328	broad.mit.edu	37	X	53105924	53105924	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:53105924G>A	ENST00000332582.4	+	2	612	c.121G>A	c.(121-123)Gcc>Acc	p.A41T		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	41					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GGCGGGTAACGCCATCTTGTC	0.612																																						ENST00000332582.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						c.(121-123)Gcc>Acc		G protein-coupled receptor 173							95.0	63.0	74.0					X																	53105924		2203	4300	6503	SO:0001583	missense	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53105924G>A	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.121G>A	X.37:g.53105924G>A	ENSP00000331600:p.Ala41Thr						p.A41T	NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN			2	612	+			41					B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	c.121G>A	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	G	9.282	1.048472	0.19827	.	.	ENSG00000184194	ENST00000332582;ENST00000375466	T	0.37584	1.19	4.02	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.174805	0.38058	N	0.001822	T	0.24624	0.0597	L	0.36672	1.1	0.31444	N	0.671579	P	0.35456	0.502	B	0.37239	0.244	T	0.18398	-1.0338	10	0.48119	T	0.1	-7.5428	4.0414	0.09753	0.2365:0.194:0.5695:0.0	.	41	Q9NS66	GP173_HUMAN	T	41	ENSP00000331600:A41T	ENSP00000331600:A41T	A	+	1	0	GPR173	53122649	0.856000	0.29760	0.926000	0.36857	0.690000	0.40134	0.943000	0.29030	0.731000	0.32448	-0.297000	0.09499	GCC		0.612	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		3	46	0	0	0	1	0	3	46				
HIST1H4K	8362	broad.mit.edu	37	6	27799001	27799001	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:27799001C>T	ENST00000357549.2	-	1	304	c.305G>A	c.(304-306)gGt>gAt	p.G102D		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	102					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						CGCTCAACCACCGAAACCGTA	0.572																																						ENST00000357549.2																			0				breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						c.(304-306)gGt>gAt		histone cluster 1, H4k							36.0	39.0	38.0					6																	27799001		2203	4300	6503	SO:0001583	missense	8362				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27799001C>T	X60483	CCDS4631.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197914	ENSG00000273542		"""Histones / Replication-dependent"""	4784	protein-coding gene	gene with protein product		602825	"""H4 histone family, member D"", ""histone 1, H4k"""	H4FD		9439656, 12408966	Standard	NM_003541		Approved	H4/d, H4F2iii, dJ160A22.1	uc003njr.3	P62805	OTTHUMG00000014488	ENST00000357549.2:c.305G>A	6.37:g.27799001C>T	ENSP00000350159:p.Gly102Asp						p.G102D	NM_003541.2	NP_003532.1	P62805	H4_HUMAN			1	304	-			102					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000357549.2	37	c.305G>A	CCDS4631.1	.	.	.	.	.	.	.	.	.	.	.	15.69	2.909486	0.52439	.	.	ENSG00000197914	ENST00000357549	.	.	.	4.14	4.14	0.48551	.	0.000000	0.53938	U	0.000057	T	0.69806	0.3152	.	.	.	0.43259	D	0.995193	.	.	.	.	.	.	T	0.75883	-0.3160	6	0.87932	D	0	.	15.7871	0.78315	0.0:1.0:0.0:0.0	.	.	.	.	D	102	.	ENSP00000350159:G102D	G	-	2	0	HIST1H4K	27906980	1.000000	0.71417	0.781000	0.31783	0.022000	0.10575	6.974000	0.76122	2.007000	0.58848	0.650000	0.86243	GGT		0.572	HIST1H4K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040156.1	NM_003541		13	26	0	0	0	1	0	13	26				
GDPD2	54857	broad.mit.edu	37	X	69645908	69645908	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:69645908G>A	ENST00000374382.3	+	5	561	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	GDPD2_ENST00000536730.1_Missense_Mutation_p.A25T|GDPD2_ENST00000538649.1_Missense_Mutation_p.A25T|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000453994.2_Missense_Mutation_p.A104T	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	104					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CTAGGTCCTGGCCCTGCTCCT	0.607																																						ENST00000453994.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22						c.(310-312)Gcc>Acc		glycerophosphodiester phosphodiesterase domain containing 2							99.0	74.0	82.0					X																	69645908		2203	4300	6503	SO:0001583	missense	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69645908G>A	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.310G>A	X.37:g.69645908G>A	ENSP00000363503:p.Ala104Thr					GDPD2_ENST00000538649.1_Missense_Mutation_p.A25T|GDPD2_ENST00000536730.1_Missense_Mutation_p.A25T|GDPD2_ENST00000374382.3_Missense_Mutation_p.A104T|GDPD2_ENST00000472623.1_3'UTR	p.A104T	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN			5	671	+	Renal(35;0.156)		104					B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	c.310G>A	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490763	0.64074	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	4.73	4.73	0.59995	.	0.065973	0.64402	D	0.000011	T	0.40522	0.1120	M	0.74647	2.275	0.31751	N	0.634578	P;P;B	0.45768	0.759;0.866;0.319	B;P;B	0.45913	0.379;0.497;0.18	T	0.55939	-0.8061	9	.	.	.	-2.5152	13.3603	0.60652	0.0:0.0:1.0:0.0	.	104;25;104	B4DVC9;B4DRH4;Q9HCC8	.;.;GDPD2_HUMAN	T	104;25;25;104	ENSP00000414019:A104T;ENSP00000445982:A25T;ENSP00000444601:A25T;ENSP00000363503:A104T	.	A	+	1	0	GDPD2	69562633	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	6.212000	0.72188	2.155000	0.67459	0.594000	0.82650	GCC		0.607	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		20	20	0	0	0	1	0	20	20				
HSD17B2	3294	broad.mit.edu	37	16	82104725	82104725	+	Silent	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr16:82104725C>T	ENST00000199936.4	+	3	850	c.657C>T	c.(655-657)agC>agT	p.S219S	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	219					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						ATGTCAGCAGCATGGGAGGTG	0.488																																						ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(655-657)agC>agT		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						118.0	116.0	117.0					16																	82104725		2201	4300	6501	SO:0001819	synonymous_variant	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82104725C>T		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.657C>T	16.37:g.82104725C>T						RP11-510J16.5_ENST00000567021.1_RNA	p.S219S	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			3	850	+			219					B2R7T4	Silent	SNP	ENST00000199936.4	37	c.657C>T	CCDS10936.1																																																																																				0.488	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		5	48	0	0	0	1	0	5	48				
PASD1	139135	broad.mit.edu	37	X	150842518	150842518	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:150842518A>G	ENST00000370357.4	+	15	2280	c.2035A>G	c.(2035-2037)Acc>Gcc	p.T679A		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	679						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGACTCAACCATAAGCAC	0.498																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2035-2037)Acc>Gcc		PAS domain containing 1							128.0	114.0	119.0					X																	150842518		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150842518A>G	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2035A>G	X.37:g.150842518A>G	ENSP00000359382:p.Thr679Ala						p.T679A	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			15	2280	+	Acute lymphoblastic leukemia(192;6.56e-05)		679					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.2035A>G	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177142	0.38413	.	.	ENSG00000166049	ENST00000370357	T	0.34667	1.35	3.15	-5.51	0.02568	.	.	.	.	.	T	0.20659	0.0497	N	0.24115	0.695	0.09310	N	1	B	0.20988	0.05	B	0.17979	0.02	T	0.24261	-1.0165	9	0.72032	D	0.01	-5.6514	7.5168	0.27606	0.2646:0.1645:0.5709:0.0	.	679	Q8IV76	PASD1_HUMAN	A	679	ENSP00000359382:T679A	ENSP00000359382:T679A	T	+	1	0	PASD1	150593174	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.485000	0.06520	-1.665000	0.01477	-0.323000	0.08544	ACC		0.498	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		35	47	0	0	0	1	0	35	47				
URB2	9816	broad.mit.edu	37	1	229770818	229770818	+	Missense_Mutation	SNP	T	T	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:229770818T>A	ENST00000258243.2	+	4	594	c.458T>A	c.(457-459)cTt>cAt	p.L153H		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	153						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTGAGCCAGCTTTGCTGGTCG	0.587																																						ENST00000258243.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(457-459)cTt>cAt		URB2 ribosome biogenesis 2 homolog (S. cerevisiae)							63.0	54.0	57.0					1																	229770818		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229770818T>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.458T>A	1.37:g.229770818T>A	ENSP00000258243:p.Leu153His						p.L153H	NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN			4	594	+			153					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.458T>A	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	T	18.99	3.740794	0.69304	.	.	ENSG00000135763	ENST00000258243	T	0.09817	2.94	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01024	-1.1477	9	.	.	.	-19.545	16.2541	0.82503	0.0:0.0:0.0:1.0	.	153	Q14146	URB2_HUMAN	H	153	ENSP00000258243:L153H	.	L	+	2	0	URB2	227837441	1.000000	0.71417	0.991000	0.47740	0.667000	0.39255	5.585000	0.67497	2.307000	0.77673	0.528000	0.53228	CTT		0.587	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		9	47	0	0	0	1	0	9	47				
FAM193B	54540	broad.mit.edu	37	5	176951816	176951816	+	Missense_Mutation	SNP	G	G	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr5:176951816G>C	ENST00000514747.1	-	6	1714	c.1666C>G	c.(1666-1668)Cca>Gca	p.P556A	FAM193B_ENST00000443375.2_Missense_Mutation_p.P523A|FAM193B_ENST00000329540.5_Missense_Mutation_p.P182A|FAM193B_ENST00000508298.1_5'Flank	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	636						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TCTGCCCATGGTGGGGCTGGC	0.622																																						ENST00000329540.5																			0				kidney(1)|large_intestine(3)	4						c.(544-546)Cca>Gca		family with sequence similarity 193, member B							12.0	13.0	13.0					5																	176951816		1913	4115	6028	SO:0001583	missense	54540							g.chr5:176951816G>C		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1666C>G	5.37:g.176951816G>C	ENSP00000422131:p.Pro556Ala					FAM193B_ENST00000514747.1_Missense_Mutation_p.P556A|FAM193B_ENST00000443375.2_Missense_Mutation_p.P523A	p.P182A			Q6IPW0	Q6IPW0_HUMAN			9	3373	-			232					E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	c.544C>G	CCDS54954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.30|17.30	3.353463|3.353463	0.61293|0.61293	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000514747;ENST00000443375;ENST00000329540|ENST00000524677	T;T;T|.	0.41065|.	1.01;1.02;1.01|.	5.42|5.42	4.54|4.54	0.55810|0.55810	.|.	0.179213|.	0.49916|.	D|.	0.000130|.	T|T	0.52741|0.52741	0.1753|0.1753	L|L	0.40543|0.40543	1.245|1.245	0.34038|0.34038	D|D	0.654658|0.654658	B;P;B|.	0.39022|.	0.234;0.655;0.003|.	B;B;B|.	0.38264|.	0.061;0.269;0.003|.	T|T	0.60388|0.60388	-0.7273|-0.7273	10|5	0.13108|.	T|.	0.6|.	-9.4526|-9.4526	13.505|13.505	0.61479|0.61479	0.0767:0.0:0.9233:0.0|0.0767:0.0:0.9233:0.0	.|.	556;182;523|.	E9PET5;E7ER81;E9PEZ8|.	.;.;.|.	A|S	556;523;182|241	ENSP00000422131:P556A;ENSP00000410098:P523A;ENSP00000332014:P182A|.	ENSP00000332014:P182A|.	P|T	-|-	1|2	0|0	FAM193B|FAM193B	176884422|176884422	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.497000|2.497000	0.45354|0.45354	2.714000|2.714000	0.92807|0.92807	0.561000|0.561000	0.74099|0.74099	CCA|ACC		0.622	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		7	7	0	0	0	1	0	7	7				
TEC	7006	broad.mit.edu	37	4	48173436	48173436	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr4:48173436A>G	ENST00000381501.3	-	4	431	c.274T>C	c.(274-276)Ttt>Ctt	p.F92L		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell receptor signaling pathway (GO:0050853)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of platelet activation (GO:0010543)|tissue regeneration (GO:0042246)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTAGGTGCAAAAATGTAAAGT	0.363																																						ENST00000381501.3																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(274-276)Ttt>Ctt		tec protein tyrosine kinase							86.0	81.0	83.0					4																	48173436		2203	4300	6503	SO:0001583	missense	7006				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr4:48173436A>G	D29767	CCDS3481.1	4p12	2013-02-14			ENSG00000135605	ENSG00000135605		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	11719	protein-coding gene	gene with protein product		600583				7934162	Standard	NM_003215		Approved	PSCTK4	uc003gxz.3	P42680	OTTHUMG00000128623	ENST00000381501.3:c.274T>C	4.37:g.48173436A>G	ENSP00000370912:p.Phe92Leu						p.F92L	NM_003215.2	NP_003206.2	P42680	TEC_HUMAN			4	431	-			92			PH.		B7ZKZ6|Q3MIS5	Missense_Mutation	SNP	ENST00000381501.3	37	c.274T>C	CCDS3481.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.617204	0.87359	.	.	ENSG00000135605	ENST00000381501	T	0.74842	-0.88	5.9	5.9	0.94986	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85314	0.5668	M	0.70595	2.14	0.54753	D	0.999985	D	0.76494	0.999	D	0.79108	0.992	D	0.85652	0.1283	10	0.49607	T	0.09	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	92	P42680	TEC_HUMAN	L	92	ENSP00000370912:F92L	ENSP00000370912:F92L	F	-	1	0	TEC	47868193	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.799000	0.85936	2.251000	0.74343	0.528000	0.53228	TTT		0.363	TEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250492.3			23	35	0	0	0	1	0	23	35				
NEURL4	84461	broad.mit.edu	37	17	7226076	7226076	+	Silent	SNP	C	C	T	rs35849202		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:7226076C>T	ENST00000399464.2	-	16	2718	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K	NEURL4_ENST00000315614.7_Silent_p.K899K|NEURL4_ENST00000570460.1_Silent_p.K877K	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	901						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGGAAGGACTTCTCGGTGG	0.622																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2701-2703)aaG>aaA		neuralized E3 ubiquitin protein ligase 4							156.0	169.0	164.0					17																	7226076		2066	4208	6274	SO:0001819	synonymous_variant	84461							g.chr17:7226076C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2703G>A	17.37:g.7226076C>T						NEURL4_ENST00000570460.1_Silent_p.K877K|NEURL4_ENST00000315614.7_Silent_p.K899K	p.K901K	NM_032442.2	NP_115818.2					16	2718	-								Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	ENST00000399464.2	37	c.2703G>A	CCDS42251.1																																																																																				0.622	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		9	72	0	0	0	1	0	9	72				
FAM47C	442444	broad.mit.edu	37	X	37029164	37029164	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:37029164C>T	ENST00000358047.3	+	1	2733	c.2681C>T	c.(2680-2682)tCc>tTc	p.S894F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	894										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AACGAGTGTTCCTCAGGGCTG	0.438																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2680-2682)tCc>tTc		family with sequence similarity 47, member C							115.0	108.0	110.0					X																	37029164		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37029164C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2681C>T	X.37:g.37029164C>T	ENSP00000367913:p.Ser894Phe						p.S894F	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2733	+			894					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2681C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	7.575	0.667473	0.14710	.	.	ENSG00000198173	ENST00000358047	T	0.62498	0.02	0.829	-1.66	0.08265	.	.	.	.	.	T	0.58935	0.2157	L	0.56769	1.78	0.09310	N	1	D	0.58620	0.983	P	0.50162	0.633	T	0.52593	-0.8555	8	0.72032	D	0.01	.	.	.	.	.	894	Q5HY64	FA47C_HUMAN	F	894	ENSP00000367913:S894F	ENSP00000367913:S894F	S	+	2	0	FAM47C	36939085	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.608000	0.24223	-1.010000	0.03396	-0.770000	0.03390	TCC		0.438	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	115	0	0	0	1	0	4	115				
FLCN	201163	broad.mit.edu	37	17	17119748	17119748	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:17119748T>C	ENST00000285071.4	-	11	1700	c.1246A>G	c.(1246-1248)Aac>Gac	p.N416D	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	416					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCCAGGAAGTTGCACCGATAG	0.662									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000285071.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1246-1248)Aac>Gac		folliculin							98.0	76.0	83.0					17																	17119748		2203	4300	6503	SO:0001583	missense	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17119748T>C	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1246A>G	17.37:g.17119748T>C	ENSP00000285071:p.Asn416Asp					RP11-45M22.4_ENST00000427497.3_3'UTR	p.N416D	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN			11	1700	-			416					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	c.1246A>G	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	t	36	5.785653	0.96937	.	.	ENSG00000154803	ENST00000285071	D	0.96073	-3.9	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.96629	0.8900	M	0.71036	2.16	0.80722	D	1	D	0.65815	0.995	P	0.55615	0.78	D	0.96814	0.9599	10	0.62326	D	0.03	-59.0568	16.3313	0.83015	0.0:0.0:0.0:1.0	.	416	Q8NFG4	FLCN_HUMAN	D	416	ENSP00000285071:N416D	ENSP00000285071:N416D	N	-	1	0	FLCN	17060473	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.347000	0.79356	2.266000	0.75297	0.529000	0.55759	AAC		0.662	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		3	11	0	0	0	1	0	3	11				
ACCS	84680	broad.mit.edu	37	11	44098861	44098861	+	Missense_Mutation	SNP	G	G	A	rs373138553		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr11:44098861G>A	ENST00000263776.8	+	7	1023	c.589G>A	c.(589-591)Gct>Act	p.A197T	ACCS_ENST00000533208.1_Intron|ACCS_ENST00000432284.2_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	197					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.A197T(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTACTATGGCGCTATCACACA	0.582																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			1	Substitution - Missense(1)	p.A197T(1)	large_intestine(1)	breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.(589-591)Gct>Act		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)		G	THR/ALA,THR/ALA	0,4406		0,0,2203	190.0	173.0	179.0		589,589	2.7	1.0	11		179	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ACCS	NM_001127219.1,NM_032592.3	58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	197/502,197/502	44098861	1,13005	2203	4300	6503	SO:0001583	missense	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44098861G>A	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.589G>A	11.37:g.44098861G>A	ENSP00000263776:p.Ala197Thr					ACCS_ENST00000432284.2_3'UTR|ACCS_ENST00000533208.1_Intron	p.A197T	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			7	1023	+			197					B4E219|Q8WUL4|Q96LX5	Missense_Mutation	SNP	ENST00000263776.8	37	c.589G>A	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001107	0.54254	0.0	1.16E-4	ENSG00000110455	ENST00000263776	D	0.90788	-2.73	4.58	2.66	0.31614	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.199097	0.42964	D	0.000636	D	0.85383	0.5684	L	0.39245	1.2	0.80722	D	1	P	0.39696	0.683	B	0.40375	0.327	T	0.82028	-0.0660	10	0.72032	D	0.01	-7.3086	7.6123	0.28137	0.0859:0.0:0.7519:0.1622	.	197	Q96QU6	1A1L1_HUMAN	T	197	ENSP00000263776:A197T	ENSP00000263776:A197T	A	+	1	0	ACCS	44055437	1.000000	0.71417	0.999000	0.59377	0.709000	0.40893	3.692000	0.54727	0.458000	0.26988	0.557000	0.71058	GCT		0.582	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592		17	114	0	0	0	1	0	17	114				
UNC5C	8633	broad.mit.edu	37	4	96124101	96124101	+	Silent	SNP	G	G	A	rs372308726		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr4:96124101G>A	ENST00000453304.1	-	12	2265	c.1917C>T	c.(1915-1917)gtC>gtT	p.V639V		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	639					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTTCCTCCCCGACCACCACCA	0.592																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1915-1917)gtC>gtT		unc-5 homolog C (C. elegans)		G		0,4406		0,0,2203	66.0	63.0	64.0		1917	-10.9	0.1	4		64	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	UNC5C	NM_003728.3		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		639/932	96124101	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96124101G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1917C>T	4.37:g.96124101G>A							p.V639V	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	12	2265	-		Hepatocellular(203;0.114)	639					Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.1917C>T	CCDS3643.1																																																																																				0.592	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		4	29	0	0	0	1	0	4	29				
PDCD11	22984	broad.mit.edu	37	10	105202012	105202012	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr10:105202012G>A	ENST00000369797.3	+	32	4844	c.4750G>A	c.(4750-4752)Gca>Aca	p.A1584T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1584					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAAGCAGAAGGCAGAGAAGGA	0.547																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(4750-4752)Gca>Aca		programmed cell death 11							114.0	116.0	116.0					10																	105202012		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105202012G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4750G>A	10.37:g.105202012G>A	ENSP00000358812:p.Ala1584Thr						p.A1584T	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	32	4844	+		Colorectal(252;0.0747)|Breast(234;0.128)	1584					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.4750G>A	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101108	0.56183	.	.	ENSG00000148843	ENST00000369797	T	0.46819	0.86	5.27	4.34	0.51931	.	0.148899	0.64402	D	0.000011	T	0.31231	0.0790	N	0.25485	0.75	0.51012	D	0.999908	B	0.28128	0.201	B	0.23419	0.046	T	0.08617	-1.0713	10	0.24483	T	0.36	-9.1634	9.7562	0.40504	0.0751:0.0:0.7828:0.1421	.	1584	Q14690	RRP5_HUMAN	T	1584	ENSP00000358812:A1584T	ENSP00000358812:A1584T	A	+	1	0	PDCD11	105192002	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	4.421000	0.59848	1.310000	0.45006	0.561000	0.74099	GCA		0.547	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			3	58	0	0	0	1	0	3	58				
CDH19	28513	broad.mit.edu	37	18	64197119	64197119	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr18:64197119T>C	ENST00000540086.1	-	9	1667	c.1421A>G	c.(1420-1422)tAt>tGt	p.Y474C	CDH19_ENST00000262150.2_Missense_Mutation_p.Y474C	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	583	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATAAGTCTCATAGTATTGAGA	0.323																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(1420-1422)tAt>tGt		cadherin 19, type 2							121.0	119.0	120.0					18																	64197119		2203	4300	6503	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64197119T>C	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1421A>G	18.37:g.64197119T>C	ENSP00000439593:p.Tyr474Cys					CDH19_ENST00000540086.1_Missense_Mutation_p.Y474C	p.Y474C	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN			9	1713	-		Esophageal squamous(42;0.0132)	474			Cadherin 5.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.1421A>G	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.510228	0.27036	.	.	ENSG00000071991	ENST00000262150;ENST00000540086	T;T	0.63913	-0.07;0.13	5.53	5.53	0.82687	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	H	0.94183	3.505	0.48696	D	0.999698	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.88861	0.3326	10	0.87932	D	0	.	14.6324	0.68666	0.0:0.0:0.0:1.0	.	474;474	F5H1K0;Q9H159	.;CAD19_HUMAN	C	474	ENSP00000262150:Y474C;ENSP00000439593:Y474C	ENSP00000262150:Y474C	Y	-	2	0	CDH19	62348099	1.000000	0.71417	0.996000	0.52242	0.943000	0.58893	2.975000	0.49281	2.105000	0.64084	0.528000	0.53228	TAT		0.323	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		3	72	0	0	0	1	0	3	72				
SIGLEC5	8778	broad.mit.edu	37	19	52130494	52130494	+	Silent	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:52130494C>T	ENST00000534261.2	-	8	1689	c.1290G>A	c.(1288-1290)tcG>tcA	p.S430S	SIGLEC5_ENST00000570106.2_Silent_p.S430S|SIGLEC5_ENST00000599649.1_Silent_p.S430S|SIGLEC5_ENST00000429354.3_Silent_p.S430S|SIGLEC5_ENST00000222107.4_Silent_p.S430S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	430					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCCCGAGGTTCGATCTCCCTG	0.557																																						ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1288-1290)tcG>tcA		sialic acid binding Ig-like lectin 5							94.0	81.0	85.0					19																	52130494		2203	4300	6503	SO:0001819	synonymous_variant	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52130494C>T	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1290G>A	19.37:g.52130494C>T						SIGLEC5_ENST00000570106.2_Silent_p.S430S|SIGLEC5_ENST00000534261.2_Silent_p.S430S|SIGLEC5_ENST00000599649.1_Silent_p.S430S|SIGLEC5_ENST00000429354.3_Silent_p.S430S	p.S430S			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	7	1428	-		all_neural(266;0.0726)	430						Silent	SNP	ENST00000534261.2	37	c.1290G>A	CCDS33088.1																																																																																				0.557	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		3	24	0	0	0	1	0	3	24				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	36	0	0	0	1	0	20	36				
MUC16	94025	broad.mit.edu	37	19	9049830	9049830	+	Missense_Mutation	SNP	T	T	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:9049830T>A	ENST00000397910.4	-	5	32004	c.31801A>T	c.(31801-31803)Atc>Ttc	p.I10601F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10603	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGGATGGATAACCCATGAA	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(31801-31803)Atc>Ttc		mucin 16, cell surface associated							129.0	120.0	123.0					19																	9049830		1912	4122	6034	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049830T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31801A>T	19.37:g.9049830T>A	ENSP00000381008:p.Ile10601Phe						p.I10601F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	32004	-			10603			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31801A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	6.788	0.514323	0.12944	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.96	1.88	0.25563	.	.	.	.	.	T	0.03011	0.0089	N	0.22421	0.69	.	.	.	P	0.52316	0.952	P	0.46850	0.529	T	0.40496	-0.9560	8	0.87932	D	0	.	5.9498	0.19239	0.0:0.0:0.2711:0.7289	.	10601	B5ME49	.	F	10601	ENSP00000381008:I10601F	ENSP00000381008:I10601F	I	-	1	0	MUC16	8910830	0.003000	0.15002	0.001000	0.08648	0.026000	0.11368	0.612000	0.24283	0.480000	0.27534	0.370000	0.22315	ATC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	48	0	0	0	1	0	28	48				
SRBD1	55133	broad.mit.edu	37	2	45807076	45807076	+	Missense_Mutation	SNP	C	C	T	rs549462688		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:45807076C>T	ENST00000263736.4	-	7	1072	c.1010G>A	c.(1009-1011)aGg>aAg	p.R337K		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	337					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAGCAGTGCCCTGGCTGCTCC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		15278	0.0		0.0	False		,,,				2504	0.001					ENST00000263736.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1009-1011)aGg>aAg		S1 RNA binding domain 1							167.0	160.0	162.0					2																	45807076		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45807076C>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1010G>A	2.37:g.45807076C>T	ENSP00000263736:p.Arg337Lys						p.R337K	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		7	1072	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	337					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1010G>A	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	2.664	-0.279032	0.05642	.	.	ENSG00000068784	ENST00000263736	T	0.39592	1.07	4.79	-0.313	0.12754	Tex-like protein, N-terminal (1);Tex-like domain (1);	1.071400	0.07173	N	0.852663	T	0.17534	0.0421	N	0.10733	0.035	0.20403	N	0.999903	B	0.02656	0.0	B	0.04013	0.001	T	0.24440	-1.0160	10	0.07325	T	0.83	.	4.045	0.09768	0.37:0.3552:0.0:0.2748	.	337	Q8N5C6	SRBD1_HUMAN	K	337	ENSP00000263736:R337K	ENSP00000263736:R337K	R	-	2	0	SRBD1	45660580	0.077000	0.21312	0.984000	0.44739	0.966000	0.64601	0.300000	0.19156	0.024000	0.15214	0.557000	0.71058	AGG		0.438	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		14	129	0	0	0	1	0	14	129				
SCN10A	6336	broad.mit.edu	37	3	38812790	38812790	+	Silent	SNP	A	A	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr3:38812790A>G	ENST00000449082.2	-	4	578	c.579T>C	c.(577-579)gaT>gaC	p.D193D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	193					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TGACGCTAAAATCCAGCCAGT	0.448																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(577-579)gaT>gaC		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						167.0	159.0	162.0					3																	38812790		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38812790A>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.579T>C	3.37:g.38812790A>G							p.D193D	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	4	578	-			193					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.579T>C	CCDS33736.1																																																																																				0.448	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		25	40	0	0	0	1	0	25	40				
CRIM1	51232	broad.mit.edu	37	2	36737265	36737265	+	Silent	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:36737265T>C	ENST00000280527.2	+	9	2008	c.1641T>C	c.(1639-1641)taT>taC	p.Y547Y		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	547	Antistasin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00582}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTGACAAGTATTGTCCACTTG	0.403																																						ENST00000280527.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(1639-1641)taT>taC		cysteine rich transmembrane BMP regulator 1 (chordin-like)							140.0	131.0	134.0					2																	36737265		2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36737265T>C	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.1641T>C	2.37:g.36737265T>C							p.Y547Y	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN			9	2008	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	547			Antistasin-like 3.		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.1641T>C	CCDS1783.1																																																																																				0.403	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		6	60	0	0	0	1	0	6	60				
SIRT5	23408	broad.mit.edu	37	6	13584419	13584419	+	Missense_Mutation	SNP	G	G	A	rs35634029		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:13584419G>A	ENST00000606117.1	+	3	373	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	SIRT5_ENST00000379262.4_Missense_Mutation_p.R26Q|SIRT5_ENST00000397350.2_5'UTR|SIRT5_ENST00000359782.3_Missense_Mutation_p.R26Q	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			GCGTCCACACGAAACCAGATT	0.478																																						ENST00000606117.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11						c.(76-78)cGa>cAa		sirtuin 5	Suramin(DB04786)						138.0	128.0	132.0					6																	13584419		2203	4300	6503	SO:0001583	missense	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13584419G>A	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.77G>A	6.37:g.13584419G>A	ENSP00000476228:p.Arg26Gln					SIRT5_ENST00000379262.4_Missense_Mutation_p.R26Q|SIRT5_ENST00000397350.2_5'UTR|SIRT5_ENST00000359782.3_Missense_Mutation_p.R26Q	p.R26Q	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		3	373	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	26						Missense_Mutation	SNP	ENST00000606117.1	37	c.77G>A	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331507	0.24167	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000379250	T;T;T	0.22336	2.55;1.96;2.55	5.11	-8.41	0.00961	.	2.172010	0.02782	N	0.121014	T	0.01454	0.0047	N	0.01352	-0.895	0.09310	N	0.999998	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.06405	0.002;0.001;0.002	T	0.26258	-1.0108	10	0.10636	T	0.68	1.7565	10.1523	0.42801	0.364:0.1092:0.5267:0.0	.	26;26;26	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	Q	26	ENSP00000352830:R26Q;ENSP00000368564:R26Q;ENSP00000368552:R26Q	ENSP00000352830:R26Q	R	+	2	0	SIRT5	13692398	0.004000	0.15560	0.000000	0.03702	0.011000	0.07611	-0.124000	0.10595	-1.386000	0.02098	-0.440000	0.05779	CGA		0.478	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			15	29	0	0	0	1	0	15	29				
ZBTB2	57621	broad.mit.edu	37	6	151687324	151687324	+	Silent	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:151687324G>A	ENST00000325144.4	-	3	1017	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CAGAGAGTCAGGGGGACGCGA	0.547																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(877-879)Ctg>Ttg		zinc finger and BTB domain containing 2							141.0	128.0	133.0					6																	151687324		2203	4300	6503	SO:0001819	synonymous_variant	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687324G>A	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.877C>T	6.37:g.151687324G>A							p.L293L	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1017	-			293					A8K7C7|Q5SZ81|Q9P245	Silent	SNP	ENST00000325144.4	37	c.877C>T	CCDS5231.1																																																																																				0.547	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		14	76	0	0	0	1	0	14	76				
TDRD5	163589	broad.mit.edu	37	1	179562904	179562904	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:179562904C>T	ENST00000367614.1	+	3	901	c.542C>T	c.(541-543)gCg>gTg	p.A181V	TDRD5_ENST00000294848.8_Missense_Mutation_p.A181V|TDRD5_ENST00000444136.1_Missense_Mutation_p.A181V|RP11-545A16.4_ENST00000567150.1_RNA	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	181	HTH OST-type 2. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GTGCTTAATGCGGCTTCAGAT	0.408																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(541-543)gCg>gTg		tudor domain containing 5							113.0	112.0	112.0					1																	179562904		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179562904C>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.542C>T	1.37:g.179562904C>T	ENSP00000356586:p.Ala181Val					TDRD5_ENST00000367614.1_Missense_Mutation_p.A181V|TDRD5_ENST00000294848.8_Missense_Mutation_p.A181V	p.A181V	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			3	792	+			181			Lotus/OST-HTH 2.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.542C>T	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.784321	0.70222	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.52983	0.64;0.64;0.64	5.79	5.79	0.91817	.	0.067793	0.64402	D	0.000016	T	0.56262	0.1973	L	0.27053	0.805	0.33092	D	0.538106	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.985	T	0.65298	-0.6202	10	0.56958	D	0.05	-0.7513	15.0478	0.71841	0.0:0.8573:0.1427:0.0	.	181;181	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	V	181	ENSP00000356586:A181V;ENSP00000294848:A181V;ENSP00000406052:A181V	ENSP00000294848:A181V	A	+	2	0	TDRD5	177829527	0.996000	0.38824	0.990000	0.47175	0.728000	0.41692	4.123000	0.57917	2.727000	0.93392	0.655000	0.94253	GCG		0.408	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		3	70	0	0	0	1	0	3	70				
IMMT	10989	broad.mit.edu	37	2	86398455	86398455	+	Silent	SNP	C	C	T	rs189678459		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:86398455C>T	ENST00000410111.3	-	5	822	c.435G>A	c.(433-435)gcG>gcA	p.A145A	IMMT_ENST00000442664.2_Silent_p.A145A|IMMT_ENST00000409051.2_Intron|IMMT_ENST00000490238.1_5'Flank|IMMT_ENST00000449247.2_Intron|IMMT_ENST00000254636.5_Intron	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	145				EAAQIISA -> ARAPASLT (in Ref. 9; AAF73126). {ECO:0000305}.	mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAATTTGAGCCGCTTCTGTAG	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		16347	0.0		0.001	False		,,,				2504	0.0					ENST00000410111.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(433-435)gcG>gcA		inner membrane protein, mitochondrial		C	,,	1,3899		0,1,1949	50.0	50.0	50.0		435,,435	3.9	1.0	2		50	0,8292		0,0,4146	no	coding-synonymous,intron,coding-synonymous	IMMT	NM_001100169.1,NM_001100170.1,NM_006839.2	,,	0,1,6095	TT,TC,CC		0.0,0.0256,0.0082	,,	145/758,,145/759	86398455	1,12191	1950	4146	6096	SO:0001819	synonymous_variant	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86398455C>T	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.435G>A	2.37:g.86398455C>T						IMMT_ENST00000409051.2_Intron|IMMT_ENST00000442664.2_Silent_p.A145A|IMMT_ENST00000254636.5_Intron|IMMT_ENST00000449247.2_Intron	p.A145A	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN			5	822	-			145	EAAQIISA -> ARAPASLT (in Ref. 9; AAF73126).				B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Silent	SNP	ENST00000410111.3	37	c.435G>A	CCDS46355.1																																																																																				0.433	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		4	11	0	0	0	1	0	4	11				
DAPK1	1612	broad.mit.edu	37	9	90252944	90252944	+	Missense_Mutation	SNP	T	T	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr9:90252944T>A	ENST00000408954.3	+	4	706	c.371T>A	c.(370-372)cTt>cAt	p.L124H	DAPK1_ENST00000472284.1_Missense_Mutation_p.L124H|DAPK1_ENST00000491893.1_Missense_Mutation_p.L124H|DAPK1_ENST00000469640.2_Missense_Mutation_p.L124H|DAPK1_ENST00000358077.5_Missense_Mutation_p.L124H	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	124	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAACAAATTCTTAATGGTGTT	0.433									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(370-372)cTt>cAt		death-associated protein kinase 1							110.0	104.0	106.0					9																	90252944		1948	4162	6110	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90252944T>A	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.371T>A	9.37:g.90252944T>A	ENSP00000386135:p.Leu124His					DAPK1_ENST00000408954.3_Missense_Mutation_p.L124H|DAPK1_ENST00000491893.1_Missense_Mutation_p.L124H|DAPK1_ENST00000472284.1_Missense_Mutation_p.L124H|DAPK1_ENST00000358077.5_Missense_Mutation_p.L124H	p.L124H			P53355	DAPK1_HUMAN			4	746	+			124			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.371T>A	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.805216	0.90623	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43579	D	0.000545	T	0.80939	0.4720	H	0.98333	4.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.991;0.999	D	0.88527	0.3100	10	0.87932	D	0	.	15.348	0.74355	0.0:0.0:0.0:1.0	.	124;124;124	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	H	124	ENSP00000350785:L124H;ENSP00000417076:L124H;ENSP00000418885:L124H;ENSP00000386135:L124H;ENSP00000419026:L124H	ENSP00000350785:L124H	L	+	2	0	DAPK1	89442764	1.000000	0.71417	0.852000	0.33557	0.936000	0.57629	7.868000	0.87116	2.218000	0.71995	0.533000	0.62120	CTT		0.433	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		5	57	0	0	0	1	0	5	57				
OR12D2	26529	broad.mit.edu	37	6	29365261	29365261	+	Missense_Mutation	SNP	C	C	T	rs113539956	byFrequency	TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:29365261C>T	ENST00000383555.2	+	1	846	c.785C>T	c.(784-786)gCg>gTg	p.A262V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						ATCCATCCTGCGTTAGAGAGC	0.448																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(784-786)gCg>gTg		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							202.0	203.0	203.0					6																	29365261		1511	2708	4219	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365261C>T		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.785C>T	6.37:g.29365261C>T	ENSP00000373047:p.Ala262Val					OR5V1_ENST00000377154.1_Intron	p.A262V	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	846	+			262					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.785C>T	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	6.831	0.522421	0.13066	.	.	ENSG00000168787	ENST00000383555	T	0.00152	8.66	3.94	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.784428	0.11443	N	0.563541	T	0.00039	0.0001	L	0.28192	0.835	0.09310	N	1	P	0.37083	0.581	B	0.39617	0.305	T	0.00443	-1.1736	10	0.51188	T	0.08	.	11.8714	0.52523	0.1752:0.8248:0.0:0.0	.	262	P58182	O12D2_HUMAN	V	262	ENSP00000373047:A262V	ENSP00000373047:A262V	A	+	2	0	OR12D2	29473240	0.000000	0.05858	0.003000	0.11579	0.016000	0.09150	0.021000	0.13489	2.019000	0.59389	0.205000	0.17691	GCG		0.448	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			10	114	0	0	0	1	0	10	114				
PIGA	5277	broad.mit.edu	37	X	15342872	15342872	+	Nonsense_Mutation	SNP	G	G	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:15342872G>C	ENST00000333590.4	-	5	1187	c.1103C>G	c.(1102-1104)tCa>tGa	p.S368*	PIGA_ENST00000542278.1_Nonsense_Mutation_p.S134*|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000428964.1_Nonsense_Mutation_p.S53*	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	368					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|positive regulation of metabolic process (GO:0009893)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)|UDP-glycosyltransferase activity (GO:0008194)			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CAATGTCCCTGACTTCAGTTG	0.398																																						ENST00000333590.4																			0				endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10						c.(1102-1104)tCa>tGa		phosphatidylinositol glycan anchor biosynthesis, class A							156.0	143.0	147.0					X																	15342872		2203	4298	6501	SO:0001587	stop_gained	5277				C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	g.chrX:15342872G>C	BC038236	CCDS14165.1, CCDS48086.1, CCDS48086.2	Xp22.1	2014-09-17	2008-07-31		ENSG00000165195	ENSG00000165195	2.4.1.198	"""Glycosyltransferase group 1 domain containing"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8957	protein-coding gene	gene with protein product	"""paroxysmal nocturnal hemoglobinuria"", ""phosphatidylinositol N-acetylglucosaminyltransferase"""	311770	"""phosphatidylinositol glycan, class A (paroxysmal nocturnal hemoglobinuria)"""			8500164	Standard	NM_002641		Approved	GPI3	uc004cwr.3	P37287	OTTHUMG00000021174	ENST00000333590.4:c.1103C>G	X.37:g.15342872G>C	ENSP00000369820:p.Ser368*					PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Nonsense_Mutation_p.S134*|PIGA_ENST00000428964.1_Nonsense_Mutation_p.S53*	p.S368*	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN			5	1187	-	Hepatocellular(33;0.183)		368					B4E0V2|Q16025|Q16250	Nonsense_Mutation	SNP	ENST00000333590.4	37	c.1103C>G	CCDS14165.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599179	0.46318	.	.	ENSG00000165195	ENST00000542278;ENST00000333590;ENST00000428964	.	.	.	5.99	5.99	0.97316	.	0.354000	0.30277	N	0.010000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-5.0022	18.2571	0.90023	0.0:0.0:1.0:0.0	.	.	.	.	X	134;368;53	.	ENSP00000369820:S368X	S	-	2	0	PIGA	15252793	1.000000	0.71417	0.030000	0.17652	0.080000	0.17528	6.002000	0.70693	2.536000	0.85505	0.600000	0.82982	TCA		0.398	PIGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055854.1	NM_002641		15	131	0	0	0	1	0	15	131				
SSX6	280657	broad.mit.edu	37	X	47976486	47976486	+	RNA	SNP	G	G	A	rs144718875	byFrequency	TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:47976486G>A	ENST00000509958.1	+	0	21							Q7RTT6	SSX6_HUMAN	synovial sarcoma, X breakpoint 6 (pseudogene)						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P141P(1)		large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						AGCTGTGCCCGCCGGGAAAAG	0.512													.|||	3	0.000794702	0.0008	0.0	3775	,	,		14807	0.0		0.0	False		,,,				2504	0.002					ENST00000319275.3																			1	Substitution - coding silent(1)	p.P141P(1)	large_intestine(1)	large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						c.(127-129)ccG>ccA				C		7,3821		0,5,2,1626,564	117.0	116.0	116.0			0.7	0.0	X	dbSNP_134	116	1,6717		0,1,0,2427,1862	no	intergenic				0,6,2,4053,2426	AA,AG,A,GG,G		0.0149,0.1829,0.0759			47976486	8,10538	2197	4290	6487			0							g.chrX:47976486G>A	BK000686		Xp11.23	2009-09-11	2009-08-26		ENSG00000171483	ENSG00000171483			19652	pseudogene	pseudogene		300541	"""SSX family pseudogene 2"", ""synovial sarcoma, X breakpoint 6"""	SSXP2		12216073	Standard	NR_028366		Approved	psiSSX2	uc011mlv.2	Q7RTT6	OTTHUMG00000021464		X.37:g.47976486G>A						SSX6_ENST00000376932.2_Silent_p.P141P	p.P43P							6	495	+									Silent	SNP	ENST00000509958.1	37	c.129G>A																																																																																					0.512	SSX6-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000362117.1	NR_028366		13	180	0	0	0	1	0	13	180				
ZBTB2	57621	broad.mit.edu	37	6	151686867	151686867	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:151686867T>C	ENST00000325144.4	-	3	1474	c.1334A>G	c.(1333-1335)aAc>aGc	p.N445S		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GTAGGGTTTGTTTGTTTGCAC	0.443																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(1333-1335)aAc>aGc		zinc finger and BTB domain containing 2							205.0	174.0	184.0					6																	151686867		2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151686867T>C	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.1334A>G	6.37:g.151686867T>C	ENSP00000323183:p.Asn445Ser						p.N445S	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1474	-			445					A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.1334A>G	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	T	10.51	1.370580	0.24771	.	.	ENSG00000181472	ENST00000325144	T	0.04862	3.54	5.41	4.25	0.50352	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.273096	0.44097	N	0.000490	T	0.01454	0.0047	N	0.08118	0	0.38376	D	0.944997	B	0.06786	0.001	B	0.04013	0.001	T	0.41858	-0.9485	10	0.87932	D	0	-49.5316	10.86	0.46821	0.0:0.0736:0.0:0.9264	.	445	Q8N680	ZBTB2_HUMAN	S	445	ENSP00000323183:N445S	ENSP00000323183:N445S	N	-	2	0	ZBTB2	151728560	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	3.602000	0.54066	0.909000	0.36697	0.460000	0.39030	AAC		0.443	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		3	57	0	0	0	1	0	3	57				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		5	69	0	0	0	1	0	5	69				
IGHG2	3501	broad.mit.edu	37	14	106110177	106110177	+	RNA	SNP	G	G	C			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr14:106110177G>C	ENST00000390545.2	-	0	440							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CGGGGTCTTCGTGGCTCACGT	0.602																																						ENST00000390545.2																			0																				156.0	138.0	144.0					14																	106110177		2143	4239	6382			0							g.chr14:106110177G>C	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106110177G>C														0	440	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.602	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		4	144	0	0	0	1	0	4	144				
ZNF433	163059	broad.mit.edu	37	19	12126626	12126626	+	Silent	SNP	G	G	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:12126626G>A	ENST00000344980.6	-	4	1226	c.1056C>T	c.(1054-1056)agC>agT	p.S352S	CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000419886.2_Silent_p.S317S|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	352					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GGTTTTGAAAGCTGGTAAGAT	0.383																																						ENST00000419886.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						c.(949-951)agC>agT		zinc finger protein 433							42.0	46.0	45.0					19																	12126626		2147	4275	6422	SO:0001819	synonymous_variant	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12126626G>A	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1056C>T	19.37:g.12126626G>A						CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Silent_p.S352S	p.S317S			Q8N7K0	ZN433_HUMAN			5	1242	-			352					Q86VX3	Silent	SNP	ENST00000344980.6	37	c.951C>T	CCDS45983.1																																																																																				0.383	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		3	51	0	0	0	1	0	3	51				
TBCC	6903	broad.mit.edu	37	6	42713776	42713776	+	Missense_Mutation	SNP	C	C	A			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:42713776C>A	ENST00000372876.1	-	1	58	c.36G>T	c.(34-36)agG>agT	p.R12S	TBCC_ENST00000244625.2_Missense_Mutation_p.R12S	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	12					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			TGTCTCCGGTCCTGACAGCAG	0.597																																						ENST00000244625.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14						c.(34-36)agG>agT		tubulin folding cofactor C							52.0	52.0	52.0					6																	42713776		2203	4300	6503	SO:0001583	missense	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713776C>A	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.36G>T	6.37:g.42713776C>A	ENSP00000361967:p.Arg12Ser					TBCC_ENST00000372876.1_Missense_Mutation_p.R12S	p.R12S			Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		2	599	-	Colorectal(47;0.196)		12					Q53Y43|Q5T787	Missense_Mutation	SNP	ENST00000372876.1	37	c.36G>T	CCDS4872.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.223537	0.00283	.	.	ENSG00000124659	ENST00000372876;ENST00000244625	T;T	0.14022	2.54;2.54	5.04	-3.69	0.04450	.	2.280660	0.02597	N	0.100580	T	0.02230	0.0069	L	0.40543	1.245	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.29610	-1.0006	10	0.08179	T	0.78	0.0321	3.3822	0.07259	0.0937:0.2393:0.3912:0.2757	.	12	Q15814	TBCC_HUMAN	S	12	ENSP00000361967:R12S;ENSP00000244625:R12S	ENSP00000244625:R12S	R	-	3	2	TBCC	42821754	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.277000	0.02812	-0.587000	0.05890	0.563000	0.77884	AGG		0.597	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		14	29	1	0	2.61681e-11	1	2.67249e-11	14	29				
TP53	7157	broad.mit.edu	37	17	7578496	7578496	+	Missense_Mutation	SNP	A	A	G	rs587782197		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:7578496A>G	ENST00000269305.4	-	5	623	c.434T>C	c.(433-435)cTg>cCg	p.L145P	TP53_ENST00000413465.2_Missense_Mutation_p.L145P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.L145P|TP53_ENST00000455263.2_Missense_Mutation_p.L145P|TP53_ENST00000359597.4_Missense_Mutation_p.L145P|TP53_ENST00000420246.2_Missense_Mutation_p.L145P	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	145	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L145Q(17)|p.L145P(17)|p.0?(8)|p.L145R(7)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.L145del(1)|p.V143_S149del(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)	ATCAACCCACAGCTGCACAGG	0.602		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"""		57	Substitution - Missense(41)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.L145Q(17)|p.L145P(17)|p.0?(8)|p.L145R(7)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.L145del(1)|p.V143_S149del(1)	breast(11)|ovary(9)|large_intestine(7)|central_nervous_system(5)|oesophagus(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|lung(3)|stomach(2)|urinary_tract(2)|liver(2)|prostate(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(433-435)cTg>cCg	Other conserved DNA damage response genes	tumor protein p53							57.0	57.0	57.0					17																	7578496		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.chr17:7578496A>G	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.434T>C	17.37:g.7578496A>G	ENSP00000269305:p.Leu145Pro	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.L145P|TP53_ENST00000359597.4_Missense_Mutation_p.L145P|TP53_ENST00000445888.2_Missense_Mutation_p.L145P|TP53_ENST00000455263.2_Missense_Mutation_p.L145P|TP53_ENST00000413465.2_Missense_Mutation_p.L145P	p.L145P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	566	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	145		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.434T>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.591310	0.46214	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99818	-6.92;-6.92;-6.92;-6.92;-6.92;-6.92;-6.92;-6.92;-6.92	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.153372	0.45361	D	0.000370	D	0.99736	0.9896	M	0.71581	2.175	0.80722	D	1	D;B;D;D;B;B;D	0.89917	1.0;0.052;0.998;1.0;0.075;0.213;1.0	D;B;D;D;B;B;D	0.91635	0.999;0.15;0.979;0.999;0.296;0.296;0.999	D	0.97018	0.9741	10	0.87932	D	0	-1.0943	13.8301	0.63375	1.0:0.0:0.0:0.0	.	106;145;145;52;145;145;145	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	145;145;145;145;145;145;134;52;13;52;13;145	ENSP00000410739:L145P;ENSP00000352610:L145P;ENSP00000269305:L145P;ENSP00000398846:L145P;ENSP00000391127:L145P;ENSP00000391478:L145P;ENSP00000425104:L13P;ENSP00000423862:L52P;ENSP00000424104:L145P	ENSP00000269305:L145P	L	-	2	0	TP53	7519221	1.000000	0.71417	0.420000	0.26596	0.013000	0.08279	9.283000	0.95860	2.206000	0.71126	0.533000	0.62120	CTG		0.602	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	4	0	0	0	1	0	33	4				
HIP1	3092	broad.mit.edu	37	7	75172231	75172231	+	Missense_Mutation	SNP	G	G	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr7:75172231G>T	ENST00000336926.6	-	28	2855	c.2829C>A	c.(2827-2829)aaC>aaA	p.N943K	HIP1_ENST00000434438.2_Missense_Mutation_p.N892K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	943	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAGTGGCCTGGTTCACTCCCC	0.542			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2827-2829)aaC>aaA		huntingtin interacting protein 1							88.0	82.0	84.0					7																	75172231		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75172231G>T	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2829C>A	7.37:g.75172231G>T	ENSP00000336747:p.Asn943Lys					HIP1_ENST00000434438.2_Missense_Mutation_p.N892K	p.N943K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN			28	2855	-			943			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.2829C>A	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442873	0.63067	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.29142	1.58;1.58	5.19	5.19	0.71726	I/LWEQ (4);	0.048172	0.85682	D	0.000000	T	0.22282	0.0537	L	0.33339	1.005	0.47276	D	0.999371	B;B	0.23316	0.071;0.083	B;B	0.28553	0.091;0.056	T	0.05484	-1.0882	10	0.10636	T	0.68	-29.5132	10.8653	0.46851	0.0865:0.0:0.9135:0.0	.	892;943	E7ES17;O00291	.;HIP1_HUMAN	K	943;892	ENSP00000336747:N943K;ENSP00000410300:N892K	ENSP00000336747:N943K	N	-	3	2	HIP1	75010167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.225000	0.32551	2.415000	0.81967	0.563000	0.77884	AAC		0.542	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		5	50	1	0	0.014758	1	0.014758	5	50				
C2	717	broad.mit.edu	37	6	31901429	31901429	+	Missense_Mutation	SNP	G	G	A	rs377291549		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:31901429G>A	ENST00000299367.5	+	4	761	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	CFB_ENST00000556679.1_Missense_Mutation_p.R100Q|C2_ENST00000469372.1_5'UTR|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.R39Q|C2_ENST00000442278.2_Missense_Mutation_p.R30Q|C2_ENST00000418949.2_Missense_Mutation_p.R162Q|CFB_ENST00000456570.1_Missense_Mutation_p.R100Q	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	162	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GGCGCAGTGCGGACAGGCTTC	0.632																																						ENST00000456570.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						c.(298-300)cGg>cAg		complement factor B							64.0	58.0	60.0					6																	31901429		1509	2709	4218	SO:0001583	missense	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31901429G>A		CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"""Complement system"""	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.485G>A	6.37:g.31901429G>A	ENSP00000299367:p.Arg162Gln					C2_ENST00000452323.2_Missense_Mutation_p.R39Q|C2_ENST00000469372.1_5'UTR|C2_ENST00000299367.5_Missense_Mutation_p.R162Q|C2_ENST00000442278.2_Missense_Mutation_p.R30Q|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.R100Q|C2_ENST00000418949.2_Missense_Mutation_p.R162Q	p.R100Q			P00751	CFAB_HUMAN			3	354	+			176			Sushi 1.		B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	ENST00000299367.5	37	c.299G>A	CCDS4728.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.48|17.48	3.400930|3.400930	0.62177|0.62177	.|.	.|.	ENSG00000166278|ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255	ENST00000383177|ENST00000452323;ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905;ENST00000556679;ENST00000456570	.|T;T;T;T;T;T;T;T;T	.|0.63255	.|-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.49|5.49	4.62|4.62	0.57501|0.57501	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.000000	.|0.34291	.|N	.|0.004082	T|T	0.72787|0.72787	0.3504|0.3504	M|M	0.86420|0.86420	2.815|2.815	0.28708|0.28708	N|N	0.903713|0.903713	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.85130	.|0.997;0.962;0.997;0.972;0.962;0.963;0.985	T|T	0.71163|0.71163	-0.4673|-0.4673	5|10	.|0.72032	.|D	.|0.01	-25.6078|-25.6078	10.6981|10.6981	0.45911|0.45911	0.0898:0.0:0.9102:0.0|0.0898:0.0:0.9102:0.0	.|.	.|100;133;39;30;30;162;162	.|B4E1Z4;B4DV48;B4DPF3;E9PFN7;B4DV20;P06681;Q8N6L6	.|.;.;.;.;.;CO2_HUMAN;.	R|Q	27|39;39;162;30;100;162;21;100;100	.|ENSP00000392322:R39Q;ENSP00000406121:R39Q;ENSP00000299367:R162Q;ENSP00000395683:R30Q;ENSP00000391354:R100Q;ENSP00000406190:R162Q;ENSP00000419048:R21Q;ENSP00000451848:R100Q;ENSP00000410815:R100Q	.|ENSP00000299367:R162Q	G|R	+|+	1|2	0|0	C2|CFB;C2;XXbac-BPG116M5.17	32009408|32009408	0.948000|0.948000	0.32251|0.32251	0.087000|0.087000	0.20705|0.20705	0.263000|0.263000	0.26337|0.26337	3.644000|3.644000	0.54381|0.54381	1.303000|1.303000	0.44873|0.44873	0.558000|0.558000	0.71614|0.71614	GGA|CGG		0.632	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076379.9			14	12	0	0	0	1	0	14	12				
CTSG	1511	broad.mit.edu	37	14	25043625	25043625	+	Silent	SNP	C	C	T			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr14:25043625C>T	ENST00000216336.2	-	4	456	c.420G>A	c.(418-420)acG>acA	p.T140T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	140	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.T140T(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CAGTGCACAGCGTCCCGGGTC	0.612																																						ENST00000216336.2																			1	Substitution - coding silent(1)	p.T140T(1)	ovary(1)	autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25						c.(418-420)acG>acA		cathepsin G							109.0	102.0	104.0					14																	25043625		2203	4300	6503	SO:0001819	synonymous_variant	1511				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	g.chr14:25043625C>T	M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"""Cathepsins"", ""Endogenous ligands"""	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.420G>A	14.37:g.25043625C>T							p.T140T	NM_001911.2	NP_001902.1	P08311	CATG_HUMAN		GBM - Glioblastoma multiforme(265;0.0269)	4	456	-			140			Peptidase S1.		Q6IBJ6|Q9UCA5|Q9UCU6	Silent	SNP	ENST00000216336.2	37	c.420G>A	CCDS9631.1																																																																																				0.612	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276536.2	NM_001911		3	54	0	0	0	1	0	3	54				
IAPP	3375	broad.mit.edu	37	12	21531254	21531254	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr12:21531254A>G	ENST00000240652.3	+	3	300	c.164A>G	c.(163-165)aAc>aGc	p.N55S	SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000307378.6_Intron|IAPP_ENST00000542023.1_3'UTR|IAPP_ENST00000539393.1_Missense_Mutation_p.N55S	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	55					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|endocrine pancreas development (GO:0031018)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell differentiation (GO:0045596)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)			lung(3)	3						TCCAGCAACAACTTTGGTGCC	0.453																																						ENST00000240652.3																			0				lung(3)	3						c.(163-165)aAc>aGc		islet amyloid polypeptide	Perindopril(DB00790)						142.0	132.0	135.0					12																	21531254		2203	4300	6503	SO:0001583	missense	3375				apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr12:21531254A>G		CCDS8688.1	12p12.1	2013-02-25			ENSG00000121351	ENSG00000121351		"""Endogenous ligands"""	5329	protein-coding gene	gene with protein product	"""amylin"""	147940					Standard	NM_000415		Approved	AMYLIN, DAP, IAP	uc001rev.3	P10997	OTTHUMG00000169128	ENST00000240652.3:c.164A>G	12.37:g.21531254A>G	ENSP00000240652:p.Asn55Ser					IAPP_ENST00000539393.1_Missense_Mutation_p.N55S|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000537524.1_Intron|IAPP_ENST00000542023.1_3'UTR|SLCO1A2_ENST00000307378.6_Intron	p.N55S	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN			3	300	+			55					Q0ZD87|Q14598	Missense_Mutation	SNP	ENST00000240652.3	37	c.164A>G	CCDS8688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.556|8.556	0.876746|0.876746	0.17395|0.17395	.|.	.|.	ENSG00000121351|ENSG00000121351	ENST00000539393;ENST00000240652;ENST00000537593|ENST00000535428	T;T;T|.	0.22134|.	1.97;1.97;1.97|.	4.98|4.98	3.83|3.83	0.44106|0.44106	Calcitonin peptide-like (1);|.	0.216848|.	0.47852|.	N|.	0.000201|.	T|T	0.53932|0.53932	0.1827|0.1827	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.27166|.	0.17|.	B|.	0.34536|.	0.185|.	T|T	0.48422|0.48422	-0.9037|-0.9037	9|4	0.07990|.	T|.	0.79|.	-1.9203|-1.9203	5.1227|5.1227	0.14869|0.14869	0.6808:0.1536:0.1656:0.0|0.6808:0.1536:0.1656:0.0	.|.	55|.	P10997|.	IAPP_HUMAN|.	S|A	55|51	ENSP00000437357:N55S;ENSP00000240652:N55S;ENSP00000445980:N55S|.	ENSP00000240652:N55S|.	N|T	+|+	2|1	0|0	IAPP|IAPP	21422521|21422521	0.235000|0.235000	0.23794|0.23794	0.683000|0.683000	0.30040|0.30040	0.555000|0.555000	0.35460|0.35460	0.891000|0.891000	0.28309|0.28309	0.750000|0.750000	0.32877|0.32877	0.528000|0.528000	0.53228|0.53228	AAC|ACT		0.453	IAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402356.1	NM_000415		28	54	0	0	0	1	0	28	54				
FAM177A1P1	728710	broad.mit.edu	37	4	99877753	99877754	+	RNA	DEL	AA	AA	-	rs33952764|rs373692463|rs59266273	byFrequency	TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr4:99877753_99877754delAA	ENST00000583654.1	+	0	237																											actctgtctcaaaaaaaaaaaa	0.45																																						ENST00000583654.1																			0																																																			0							g.chr4:99877753_99877754delAA																													4.37:g.99877763_99877764delAA														0	237	+									RNA	DEL	ENST00000583654.1	37																																																																																						0.450	RP11-571L19.7-001	KNOWN	non_canonical_other|not_organism_supported|basic	antisense	antisense	OTTHUMT00000441787.1			2	4						2	4	---	---	---	---
TRBV7-3	28595	broad.mit.edu	37	7	142247456	142247457	+	RNA	DEL	CA	CA	-			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr7:142247456_142247457delCA	ENST00000390361.3	-	0	99									T cell receptor beta variable 7-3																		TTGTACTCATcacacacacaca	0.545																																						ENST00000390361.3																			0																																																			0							g.chr7:142247456_142247457delCA	X61440		7q34	2012-02-07			ENSG00000211714	ENSG00000211714		"""T cell receptors / TRB locus"""	12237	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV73, TCRBV6S1A1N1, TCRBV7S3			OTTHUMG00000158528		7.37:g.142247466_142247467delCA														0	99	-									RNA	DEL	ENST00000390361.3	37																																																																																						0.545	TRBV7-3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351234.2	NG_001333		7	136						7	136	---	---	---	---
DLAT	1737	broad.mit.edu	37	11	111934916	111934916	+	3'UTR	DEL	T	T	-			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr11:111934916delT	ENST00000280346.6	+	0	4260				PIH1D2_ENST00000528775.1_Frame_Shift_Del_p.K281fs|DLAT_ENST00000393051.1_3'UTR|PIH1D2_ENST00000431456.1_Frame_Shift_Del_p.K281fs	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase						cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		ATAATTCATCTTTCGCTAATG	0.313																																						ENST00000431456.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(841-843)aafs		PIH1 domain containing 2							94.0	87.0	89.0					11																	111934916		1805	4056	5861	SO:0001624	3_prime_UTR_variant	120379							g.chr11:111934916delT	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.*1657T>-	11.37:g.111934916delT						DLAT_ENST00000393051.1_3'UTR|DLAT_ENST00000280346.6_3'UTR|PIH1D2_ENST00000528775.1_Frame_Shift_Del_p.K281fs	p.K281fs	NM_001082619.1	NP_001076088.1	Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	6	1065	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	0					Q16783|Q53EP3	Frame_Shift_Del	DEL	ENST00000280346.6	37	c.843delA	CCDS8354.1																																																																																				0.313	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		2	4						2	4	---	---	---	---
