#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
SLC45A1	50651	broad.mit.edu	37	1	8395553	8395553	+	Silent	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:8395553C>T	ENST00000471889.1	+	6	1885	c.1500C>T	c.(1498-1500)agC>agT	p.S500S	SLC45A1_ENST00000377479.2_Silent_p.S534S|SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000289877.8_Silent_p.S500S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	500					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGCTCCAGCGAGCGCGCGG	0.647																																						uc001apb.2																			0				central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(1498-1500)AGC>AGT		DNB5							56.0	65.0	62.0					1																	8395553		2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8395553C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1500C>T	1.37:g.8395553C>T						SLC45A1_uc001apc.2_Silent_p.S198S	p.S500S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	1500	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	500					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1500C>T	CCDS30577.1																																																																																				0.647	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5		
ST6GALNAC3	256435	broad.mit.edu	37	1	77094323	77094323	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:77094323A>T	ENST00000328299.3	+	5	898	c.750A>T	c.(748-750)aaA>aaT	p.K250N		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	250					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGTATAGAAAAGTCCCCTACC	0.363																																						uc001dhh.2																			0				ovary(3)|skin(2)	5						c.(748-750)AAA>AAT		sialyltransferase 7C isoform 1							65.0	65.0	65.0					1																	77094323		2203	4298	6501	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77094323A>T		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.750A>T	1.37:g.77094323A>T	ENSP00000329214:p.Lys250Asn					ST6GALNAC3_uc010orh.1_Missense_Mutation_p.K149N	p.K250N	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			5	913	+			250			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.750A>T	CCDS672.1	.	.	.	.	.	.	.	.	.	.	a	14.25	2.479260	0.44044	.	.	ENSG00000184005	ENST00000328299;ENST00000394993;ENST00000415813	T	0.31510	1.49	5.52	5.52	0.82312	.	0.047003	0.85682	D	0.000000	T	0.23370	0.0565	L	0.46885	1.475	0.49798	D	0.999826	B;P	0.42993	0.415;0.797	B;P	0.49999	0.147;0.628	T	0.02758	-1.1114	10	0.25751	T	0.34	-41.5643	11.1004	0.48170	0.9279:0.0:0.0721:0.0	.	149;250	B4DM98;Q8NDV1	.;SIA7C_HUMAN	N	250;249;148	ENSP00000329214:K250N	ENSP00000329214:K250N	K	+	3	2	ST6GALNAC3	76866911	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.483000	0.45233	2.229000	0.72834	0.524000	0.50904	AAA		0.363	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996	
HCN3	57657	broad.mit.edu	37	1	155254428	155254428	+	Silent	SNP	C	C	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:155254428C>G	ENST00000368358.3	+	4	977	c.969C>G	c.(967-969)ccC>ccG	p.P323P	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	323					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGGCATGCCCGACGTCTGGC	0.597																																						uc001fjz.1																			0				ovary(1)|breast(1)	2						c.(967-969)CCC>CCG		hyperpolarization activated cyclic							104.0	77.0	86.0					1																	155254428		2203	4300	6503	SO:0001819	synonymous_variant	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155254428C>G	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.969C>G	1.37:g.155254428C>G						RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Intron	p.P323P	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	977	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		323			Extracellular (Potential).		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	c.969C>G	CCDS1108.1																																																																																				0.597	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897	
CD1B	910	broad.mit.edu	37	1	158300836	158300836	+	Silent	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:158300836G>A	ENST00000368168.3	-	2	185	c.78C>T	c.(76-78)acC>acT	p.T26T		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	26					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CATGAAAGGAGGTCGGCCCCT	0.458																																						uc001frx.2																			0				ovary(2)	2						c.(76-78)ACC>ACT		CD1B antigen precursor							197.0	192.0	194.0					1																	158300836		2203	4300	6503	SO:0001819	synonymous_variant	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158300836G>A	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.78C>T	1.37:g.158300836G>A						CD1B_uc001frw.2_5'UTR|CD1B_uc010pic.1_Silent_p.T26T	p.T26T	NM_001764	NP_001755	P29016	CD1B_HUMAN			2	186	-	all_hematologic(112;0.0378)		26			Extracellular (Potential).		Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	ENST00000368168.3	37	c.78C>T	CCDS1176.1																																																																																				0.458	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764	
VSIG8	391123	broad.mit.edu	37	1	159827989	159827989	+	Nonsense_Mutation	SNP	G	G	C	rs138280068	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:159827989G>C	ENST00000368100.1	-	3	456	c.321C>G	c.(319-321)taC>taG	p.Y107*	RP11-190A12.7_ENST00000544342.1_3'UTR|C1orf204_ENST00000368102.1_5'Flank	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	107	Ig-like V-type 1.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					TGGAGGCATCGTACTGGCTTG	0.542																																						uc001fuh.2																			0				central_nervous_system(1)	1						c.(319-321)TAC>TAG		V-set and immunoglobulin domain containing 8							110.0	98.0	102.0					1																	159827989		2203	4300	6503	SO:0001587	stop_gained	391123					integral to membrane		g.chr1:159827989G>C		CCDS30913.1	1q23.2	2013-01-11			ENSG00000243284	ENSG00000243284		"""Immunoglobulin superfamily / V-set domain containing"""	32063	protein-coding gene	gene with protein product							Standard	NM_001013661		Approved		uc001fuh.3	Q5VU13	OTTHUMG00000168834	ENST00000368100.1:c.321C>G	1.37:g.159827989G>C	ENSP00000357080:p.Tyr107*					C1orf204_uc001fug.1_5'Flank	p.Y107*	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN			3	457	-	all_hematologic(112;0.0597)		107			Extracellular (Potential).|Ig-like V-type 1.		Q5VU14	Nonsense_Mutation	SNP	ENST00000368100.1	37	c.321C>G	CCDS30913.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598688	0.66332	.	.	ENSG00000243284	ENST00000368100	.	.	.	5.26	-9.16	0.00694	.	0.278615	0.36482	N	0.002578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	11.861	0.52465	0.7337:0.1018:0.1645:0.0	.	.	.	.	X	107	.	ENSP00000357080:Y107X	Y	-	3	2	VSIG8	158094613	0.002000	0.14202	0.618000	0.29105	0.988000	0.76386	-2.573000	0.00912	-1.608000	0.01587	0.462000	0.41574	TAC		0.542	VSIG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085978.8	NM_001013661	
ITLN2	142683	broad.mit.edu	37	1	160920979	160920979	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:160920979C>T	ENST00000368029.3	-	4	352	c.295G>A	c.(295-297)Gag>Aag	p.E99K	RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'Flank	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	99	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGTCATTCTCGTGCACGCTG	0.582																																						uc001fxd.2																			0				ovary(1)	1						c.(295-297)GAG>AAG		intelectin 2 precursor							112.0	97.0	102.0					1																	160920979		2203	4300	6503	SO:0001583	missense	142683				signal transduction	extracellular region	receptor binding|sugar binding	g.chr1:160920979C>T	AY065973	CCDS1212.1	1q22-q23.5	2013-02-06			ENSG00000158764	ENSG00000158764		"""Fibrinogen C domain containing"""	20599	protein-coding gene	gene with protein product		609874				11181563	Standard	NM_080878		Approved	HL-2	uc001fxd.3	Q8WWU7	OTTHUMG00000028605	ENST00000368029.3:c.295G>A	1.37:g.160920979C>T	ENSP00000357008:p.Glu99Lys					ITLN2_uc009wts.2_Missense_Mutation_p.E98K|ITLN2_uc010pju.1_Missense_Mutation_p.E16K	p.E99K	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		4	353	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		99			Fibrinogen C-terminal.		Q17RR2|Q5VYI0	Missense_Mutation	SNP	ENST00000368029.3	37	c.295G>A	CCDS1212.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315864	0.60524	.	.	ENSG00000158764	ENST00000368029	T	0.24538	1.85	3.85	3.85	0.44370	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.50627	U	0.000104	T	0.47229	0.1434	M	0.86953	2.85	0.39472	D	0.967731	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57539	-0.7794	10	0.72032	D	0.01	-15.4755	13.6384	0.62235	0.0:1.0:0.0:0.0	.	98;99	A6NI51;Q8WWU7	.;ITLN2_HUMAN	K	99	ENSP00000357008:E99K	ENSP00000357008:E99K	E	-	1	0	ITLN2	159187603	0.997000	0.39634	0.482000	0.27366	0.102000	0.19082	3.792000	0.55476	2.119000	0.64992	0.561000	0.74099	GAG		0.582	ITLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071465.1	NM_080878	
LAMC2	3918	broad.mit.edu	37	1	183207550	183207550	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:183207550C>T	ENST00000264144.4	+	19	2928	c.2863C>T	c.(2863-2865)Ctc>Ttc	p.L955F	LAMC2_ENST00000493293.1_Missense_Mutation_p.L955F	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	955	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCTTAAAAACCTCAGAGGTTA	0.413																																						uc001gqa.2																			0				skin(2)|ovary(1)	3						c.(2863-2865)CTC>TTC		laminin, gamma 2 isoform a precursor							117.0	112.0	113.0					1																	183207550		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183207550C>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.2863C>T	1.37:g.183207550C>T	ENSP00000264144:p.Leu955Phe					LAMC2_uc001gpz.3_Missense_Mutation_p.L955F|LAMC2_uc010poa.1_Missense_Mutation_p.L655F	p.L955F	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			19	3177	+			955			Potential.|Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.2863C>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929785	0.73327	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.51071	0.98;0.72	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000005	T	0.69233	0.3088	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.73448	-0.3979	10	0.87932	D	0	.	11.7135	0.51639	0.0:0.9182:0.0:0.0818	.	955;955;955	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	F	955	ENSP00000432063:L955F;ENSP00000264144:L955F	ENSP00000264144:L955F	L	+	1	0	LAMC2	181474173	0.997000	0.39634	0.994000	0.49952	0.861000	0.49209	3.614000	0.54160	2.558000	0.86282	0.655000	0.94253	CTC		0.413	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562	
ITGA8	8516	broad.mit.edu	37	10	15590502	15590502	+	Silent	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:15590502G>A	ENST00000378076.3	-	27	3185	c.2832C>T	c.(2830-2832)agC>agT	p.S944S		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	944					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCAGGACTGCGCTTTCTCCTC	0.483																																						uc001ioc.1																			0				ovary(3)|lung(3)	6						c.(2830-2832)AGC>AGT		integrin, alpha 8 precursor							205.0	167.0	180.0					10																	15590502		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15590502G>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2832C>T	10.37:g.15590502G>A						ITGA8_uc010qcb.1_Silent_p.S929S	p.S944S	NM_003638	NP_003629	P53708	ITA8_HUMAN			27	2832	-			944			Extracellular (Potential).		B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.2832C>T	CCDS31155.1																																																																																				0.483	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	
PLCE1	51196	broad.mit.edu	37	10	95791394	95791394	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:95791394G>A	ENST00000371380.3	+	1	826	c.591G>A	c.(589-591)atG>atA	p.M197I	PLCE1_ENST00000260766.3_Missense_Mutation_p.M197I			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	197					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACAGAAGAATGTCAGACACTT	0.408																																						uc001kjk.2																			0				ovary(2)|skin(1)	3						c.(589-591)ATG>ATA		phospholipase C, epsilon 1 isoform 1							93.0	89.0	90.0					10																	95791394		1916	4128	6044	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791394G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.591G>A	10.37:g.95791394G>A	ENSP00000360431:p.Met197Ile					PLCE1_uc010qnx.1_Missense_Mutation_p.M197I	p.M197I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			2	1225	+		Colorectal(252;0.0458)	197					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.591G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528335	0.27299	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.72942	-0.7;-0.7	4.98	1.54	0.23209	.	0.691781	0.12980	N	0.423348	T	0.47507	0.1449	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26573	-1.0099	10	0.17369	T	0.5	.	3.5936	0.07998	0.4644:0.1978:0.3378:0.0	.	197;197	B7ZM61;Q9P212	.;PLCE1_HUMAN	I	197	ENSP00000260766:M197I;ENSP00000360431:M197I	ENSP00000260766:M197I	M	+	3	0	PLCE1	95781384	0.998000	0.40836	0.955000	0.39395	0.977000	0.68977	0.876000	0.28092	0.610000	0.30035	0.655000	0.94253	ATG		0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
KIAA1598	57698	broad.mit.edu	37	10	118689505	118689505	+	Missense_Mutation	SNP	T	T	A	rs145640256	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:118689505T>A	ENST00000355371.4	-	10	1364	c.867A>T	c.(865-867)gaA>gaT	p.E289D	KIAA1598_ENST00000260777.10_Missense_Mutation_p.E289D|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Missense_Mutation_p.E289D|KIAA1598_ENST00000392901.4_Missense_Mutation_p.E229D	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	289					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCTCTTCTAATTCTTTGACCT	0.308													T|||	3	0.000599042	0.0023	0.0	5008	,	,		14972	0.0		0.0	False		,,,				2504	0.0					uc009xyw.2																			0					0						c.(865-867)GAA>GAT		shootin1 isoform a		T	ASP/GLU,ASP/GLU	3,4399	6.2+/-15.9	0,3,2198	135.0	126.0	129.0		867,867	-1.3	0.7	10	dbSNP_134	129	0,8596		0,0,4298	yes	missense,missense	KIAA1598	NM_001127211.1,NM_018330.5	45,45	0,3,6496	AA,AT,TT		0.0,0.0682,0.0231	benign,benign	289/632,289/457	118689505	3,12995	2201	4298	6499	SO:0001583	missense	57698				axon guidance	axon		g.chr10:118689505T>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.867A>T	10.37:g.118689505T>A	ENSP00000347532:p.Glu289Asp					KIAA1598_uc001lcz.3_Missense_Mutation_p.E289D|KIAA1598_uc010qso.1_Missense_Mutation_p.E229D|KIAA1598_uc010qsp.1_Missense_Mutation_p.E289D|KIAA1598_uc010qsq.1_Missense_Mutation_p.E229D|KIAA1598_uc001lcy.3_Missense_Mutation_p.E259D	p.E289D	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	10	1365	-			289			Potential.		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	c.867A>T	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	T	7.863	0.726539	0.15439	6.82E-4	0.0	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	T;T;T;T	0.74106	2.98;1.41;2.98;-0.81	5.35	-1.32	0.09201	.	0.574408	0.20611	N	0.088968	T	0.57489	0.2057	L	0.45581	1.43	0.30989	N	0.721643	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.08055	0.002;0.002;0.003	T	0.43458	-0.9390	10	0.16896	T	0.51	-2.7627	4.9566	0.14044	0.0:0.2476:0.3003:0.4521	.	289;289;259	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	D	289;289;289;229	ENSP00000376636:E289D;ENSP00000260777:E289D;ENSP00000347532:E289D;ENSP00000376635:E229D	ENSP00000260777:E289D	E	-	3	2	KIAA1598	118679495	0.559000	0.26562	0.679000	0.29978	0.659000	0.38960	-0.310000	0.08135	-0.395000	0.07715	0.459000	0.35465	GAA		0.308	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330	
OR5D16	390144	broad.mit.edu	37	11	55606593	55606593	+	Nonsense_Mutation	SNP	T	T	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr11:55606593T>A	ENST00000378396.1	+	1	366	c.366T>A	c.(364-366)taT>taA	p.Y122*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGATGGCCTATGACCACTTTG	0.433																																						uc010rio.1																			0				ovary(4)|skin(1)	5						c.(364-366)TAT>TAA		olfactory receptor, family 5, subfamily D,							130.0	122.0	125.0					11																	55606593		2201	4296	6497	SO:0001587	stop_gained	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606593T>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.366T>A	11.37:g.55606593T>A	ENSP00000367649:p.Tyr122*						p.Y122*	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	366	+		all_epithelial(135;0.208)	122			Helical; Name=3; (Potential).		Q6IF65|Q96RB4	Nonsense_Mutation	SNP	ENST00000378396.1	37	c.366T>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	12.81	2.049144	0.36181	.	.	ENSG00000205029	ENST00000378396	.	.	.	4.29	0.595	0.17490	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.4539	7.5986	0.28063	0.0:0.3642:0.0:0.6358	.	.	.	.	X	122	.	ENSP00000367649:Y122X	Y	+	3	2	OR5D16	55363169	0.968000	0.33430	0.002000	0.10522	0.603000	0.37013	0.128000	0.15810	0.179000	0.19938	-0.516000	0.04426	TAT		0.433	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496	
LRRIQ1	84125	broad.mit.edu	37	12	85466877	85466877	+	Splice_Site	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:85466877G>T	ENST00000393217.2	+	11	2948		c.e11+1			NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TACTGGAATTGTAAGttgtgt	0.358																																						uc001tac.2																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.e11+1		leucine-rich repeats and IQ motif containing 1							60.0	59.0	59.0					12																	85466877		2203	4300	6503	SO:0001630	splice_region_variant	84125							g.chr12:85466877G>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2887+1G>T	12.37:g.85466877G>T						LRRIQ1_uc001tab.1_Splice_Site_p.C963_splice	p.C963_splice	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	11	2998	+								Q567P4|Q9BS17|Q9HA36	Splice_Site	SNP	ENST00000393217.2	37	c.2887_splice	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	3.892	-0.023699	0.07634	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	.	.	.	3.12	-1.13	0.09775	.	.	.	.	.	.	.	.	.	.	.	0.19300	N	0.999977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8567	0.18724	0.5745:0.0:0.4255:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRIQ1	83991008	0.011000	0.17503	0.001000	0.08648	0.066000	0.16364	0.488000	0.22371	-0.268000	0.09312	-0.290000	0.09829	.		0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	Intron
NOS1	4842	broad.mit.edu	37	12	117723943	117723943	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:117723943C>T	ENST00000338101.4	-	5	1260	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	NOS1_ENST00000317775.6_Missense_Mutation_p.R419H|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCCCACACAGCGCGAGGCATT	0.557																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			0				ovary(3)|skin(3)|pancreas(1)	7						c.(1255-1257)CGC>CAC		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						130.0	131.0	130.0					12																	117723943		2168	4298	6466	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117723943C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1256G>A	12.37:g.117723943C>T	ENSP00000337459:p.Arg419His						p.R419H	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	6	1942	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		419						Missense_Mutation	SNP	ENST00000338101.4	37	c.1256G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	34	5.314615	0.95655	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.55930	0.49;0.49	4.93	4.93	0.64822	Nitric oxide synthase, oxygenase domain (4);	0.000000	0.85682	D	0.000000	T	0.80003	0.4544	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.85714	0.1321	10	0.87932	D	0	-26.0352	18.3299	0.90264	0.0:1.0:0.0:0.0	.	419	P29475	NOS1_HUMAN	H	419	ENSP00000320758:R419H;ENSP00000337459:R419H	ENSP00000320758:R419H	R	-	2	0	NOS1	116208326	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.562000	0.82300	2.559000	0.86315	0.591000	0.81541	CGC		0.557	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
ACADS	35	broad.mit.edu	37	12	121164991	121164991	+	Splice_Site	SNP	A	A	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:121164991A>G	ENST00000242592.4	+	2	360	c.209A>G	c.(208-210)cAg>cGg	p.Q70R	ACADS_ENST00000411593.2_Splice_Site_p.Q70R	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	70					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	CCAGCGGCTCAGGTGAGAGTG	0.567																																						uc001tza.3																			0				central_nervous_system(2)	2						c.(208-210)CAG>CGG		short-chain acyl-CoA dehydrogenase precursor	NADH(DB00157)						140.0	129.0	133.0					12																	121164991		2203	4300	6503	SO:0001630	splice_region_variant	35					mitochondrial matrix	butyryl-CoA dehydrogenase activity	g.chr12:121164991A>G	M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.210+1A>G	12.37:g.121164991A>G						ACADS_uc010szl.1_Missense_Mutation_p.Q70R	p.Q70R	NM_000017	NP_000008	P16219	ACADS_HUMAN			2	327	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)	70					P78331	Missense_Mutation	SNP	ENST00000242592.4	37	c.209A>G	CCDS9207.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.904842	0.33628	.	.	ENSG00000122971	ENST00000242592;ENST00000411593	D;D	0.99663	-5.18;-6.33	4.46	4.46	0.54185	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99435	0.9800	M	0.87180	2.865	0.80722	D	1	D;P	0.56521	0.976;0.504	P;P	0.59948	0.866;0.512	D	0.99984	1.2964	10	0.10902	T	0.67	.	13.9032	0.63819	1.0:0.0:0.0:0.0	.	70;70	E9PE82;P16219	.;ACADS_HUMAN	R	70	ENSP00000242592:Q70R;ENSP00000401045:Q70R	ENSP00000242592:Q70R	Q	+	2	0	ACADS	119649374	1.000000	0.71417	0.998000	0.56505	0.123000	0.20343	8.123000	0.89586	1.878000	0.54408	0.459000	0.35465	CAG		0.567	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402861.1	NM_000017	Missense_Mutation
RB1	5925	broad.mit.edu	37	13	49039379	49039379	+	Silent	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr13:49039379C>T	ENST00000267163.4	+	23	2502	c.2364C>T	c.(2362-2364)agC>agT	p.S788S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	788	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTCCTCGAAGCCCTTACAAGT	0.403		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		26	Whole gene deletion(15)|Unknown(11)	p.?(7)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(2362-2364)AGC>AGT		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						154.0	158.0	157.0					13																	49039379		2203	4300	6503	SO:0001819	synonymous_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49039379C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2364C>T	13.37:g.49039379C>T		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.S788S	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	23	2530	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	788			Interaction with LIMD1.|Domain C; mediates interaction with E4F1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	c.2364C>T	CCDS31973.1																																																																																				0.403	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
BORA	79866	broad.mit.edu	37	13	73321201	73321201	+	Silent	SNP	A	A	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr13:73321201A>G	ENST00000390667.5	+	10	1531	c.1434A>G	c.(1432-1434)tcA>tcG	p.S478S	BORA_ENST00000377815.3_Silent_p.S408S	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	478					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										TGTGCATGTCACCTCTTGCTG	0.413																																						uc001viv.1																			0					0						c.(1432-1434)TCA>TCG		aurora borealis							216.0	200.0	205.0					13																	73321201		1915	4138	6053	SO:0001819	synonymous_variant	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73321201A>G	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.1434A>G	13.37:g.73321201A>G						C13orf34_uc010thq.1_Silent_p.S253S|C13orf34_uc010aen.1_Silent_p.S553S|C13orf34_uc010thr.1_Silent_p.S408S|C13orf34_uc001viw.1_Silent_p.S427S	p.S478S	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN		GBM - Glioblastoma multiforme(99;0.000227)	10	1553	+		Breast(118;0.0735)	478					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Silent	SNP	ENST00000390667.5	37	c.1434A>G	CCDS9446.1																																																																																				0.413	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808	
PYGO1	26108	broad.mit.edu	37	15	55838924	55838927	+	Frame_Shift_Del	DEL	TGAC	TGAC	-			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr15:55838924_55838927delTGAC	ENST00000302000.6	-	3	648_651	c.554_557delGTCA	c.(553-558)agtcaafs	p.SQ185fs	PYGO1_ENST00000563719.1_Frame_Shift_Del_p.SQ185fs	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	185	Asn-rich.				hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TGGAGGAATTTGACTGAAATTTTC	0.333																																						uc010bfl.1																			0				ovary(1)|skin(1)	2						c.(553-558)AGTCAAfs		pygopus homolog 1																																				SO:0001589	frameshift_variant	26108				Wnt receptor signaling pathway	nucleus	zinc ion binding	g.chr15:55838924_55838927delTGAC	AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.554_557delGTCA	15.37:g.55838924_55838927delTGAC	ENSP00000302327:p.Ser185fs					PYGO1_uc002adf.1_Frame_Shift_Del_p.S185fs	p.S185fs	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN		all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)	3	610_613	-			185_186			Asn-rich.		A7Y2D6	Frame_Shift_Del	DEL	ENST00000302000.6	37	c.554_557delGTCA	CCDS10155.1																																																																																				0.333	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2	NM_015617	
MAPK3	5595	broad.mit.edu	37	16	30128054	30128054	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr16:30128054G>A	ENST00000263025.4	-	8	1159	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	MAPK3_ENST00000395200.1_Missense_Mutation_p.R291W|MAPK3_ENST00000395202.1_Missense_Mutation_p.R315W|GDPD3_ENST00000406256.3_5'Flank|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000322266.5_Missense_Mutation_p.R315W|MAPK3_ENST00000403394.1_3'UTR|MAPK3_ENST00000484663.1_Missense_Mutation_p.R245W	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	359					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)	p.R359W(1)								Arsenic trioxide(DB01169)|Sulindac(DB00605)	TCCTTCAGCCGCTCCTTAGGT	0.642																																						uc002dws.2																			1	Substitution - Missense(1)	p.R359W(1)	stomach(1)		0						c.(1075-1077)CGG>TGG		mitogen-activated protein kinase 3 isoform 1	Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)						54.0	57.0	56.0					16																	30128054		2197	4300	6497	SO:0001583	missense	5595				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	g.chr16:30128054G>A	M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.1075C>T	16.37:g.30128054G>A	ENSP00000263025:p.Arg359Trp					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_Missense_Mutation_p.R245W|MAPK3_uc002dwv.3_Missense_Mutation_p.R315W|MAPK3_uc002dwt.2_3'UTR|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	p.R359W	NM_002746	NP_002737	P27361	MK03_HUMAN			8	1175	-			359					A8CZ58|B0LPG3|Q8NHX1	Missense_Mutation	SNP	ENST00000263025.4	37	c.1075C>T	CCDS10672.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132643	0.77662	.	.	ENSG00000102882	ENST00000263025;ENST00000484663;ENST00000322266;ENST00000395200;ENST00000395202;ENST00000478356	T;T;T;T;T;T	0.76839	-1.05;-0.98;-1.01;0.69;-1.01;2.73	5.79	3.77	0.43336	Protein kinase-like domain (1);	0.278569	0.35067	N	0.003468	D	0.82907	0.5139	M	0.73217	2.22	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.54924	0.764;0.477	D	0.84237	0.0470	10	0.87932	D	0	-1.6735	13.077	0.59093	0.0:0.0:0.461:0.539	.	315;359	P27361-2;P27361	.;MK03_HUMAN	W	359;245;315;291;315;122	ENSP00000263025:R359W;ENSP00000432742:R245W;ENSP00000327293:R315W;ENSP00000378626:R291W;ENSP00000378628:R315W;ENSP00000432292:R122W	ENSP00000263025:R359W	R	-	1	2	MAPK3	30035555	1.000000	0.71417	0.977000	0.42913	0.993000	0.82548	3.154000	0.50693	0.741000	0.32674	0.655000	0.94253	CGG		0.642	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2		
SLC12A3	6559	broad.mit.edu	37	16	56913524	56913524	+	Missense_Mutation	SNP	C	C	T	rs139743444	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr16:56913524C>T	ENST00000563236.1	+	11	1431	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	SLC12A3_ENST00000438926.2_Missense_Mutation_p.A469V|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A468V|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A468V			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	469					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTCTCCTCTGCCCTGGCCTGC	0.632																																						uc010ccm.2																			0				ovary(2)|breast(1)	3						c.(1405-1407)GCC>GTC		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	C	VAL/ALA,VAL/ALA,VAL/ALA	0,4396		0,0,2198	56.0	49.0	52.0		1406,1403,1406	4.4	1.0	16	dbSNP_134	52	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense	SLC12A3	NM_000339.2,NM_001126107.1,NM_001126108.1	64,64,64	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	469/1031,468/1030,469/1022	56913524	3,12993	2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56913524C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1406C>T	16.37:g.56913524C>T	ENSP00000456149:p.Ala469Val					SLC12A3_uc002ekd.3_Missense_Mutation_p.A469V|SLC12A3_uc010ccn.2_Missense_Mutation_p.A468V	p.A469V	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			11	1435	+			469			Helical; (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.1406C>T	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383333	0.95967	0.0	3.49E-4	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	4.4	4.4	0.53042	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	T	0.79770	0.4503	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.994	D;D;P	0.71870	0.975;0.936;0.895	D	0.83731	0.0198	9	0.87932	D	0	.	17.1781	0.86846	0.0:1.0:0.0:0.0	.	468;469;469	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	V	468;469	.	ENSP00000262502:A469V	A	+	2	0	SLC12A3	55471025	1.000000	0.71417	0.996000	0.52242	0.976000	0.68499	7.517000	0.81783	2.281000	0.76405	0.462000	0.41574	GCC		0.632	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1		
C17orf85	55421	broad.mit.edu	37	17	3721586	3721586	+	Silent	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:3721586G>A	ENST00000389005.4	-	10	1308	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	C17orf85_ENST00000158149.3_Silent_p.D147D	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	427							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATTCCACTTCGTCAGCATACA	0.328																																						uc010ckl.1																			0				skin(1)	1						c.(1279-1281)GAC>GAT		ELG protein isoform a							74.0	76.0	75.0					17																	3721586		2203	4300	6503	SO:0001819	synonymous_variant	55421						nucleotide binding	g.chr17:3721586G>A		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1281C>T	17.37:g.3721586G>A						C17orf85_uc002fwr.2_Silent_p.D137D|C17orf85_uc002fwq.2_Silent_p.D147D	p.D427D	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	10	1304	-			427					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Silent	SNP	ENST00000389005.4	37	c.1281C>T	CCDS45578.1																																																																																				0.328	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553	
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	T	rs397516437		TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7577551C>T	ENST00000269305.4	-	7	919	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	TP53_ENST00000445888.2_Missense_Mutation_p.G244S|TP53_ENST00000359597.4_Missense_Mutation_p.G244S|TP53_ENST00000455263.2_Missense_Mutation_p.G244S|TP53_ENST00000413465.2_Missense_Mutation_p.G244S|TP53_ENST00000420246.2_Missense_Mutation_p.G244S|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(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)	TTCATGCCGCCCATGCAGGAA	0.582		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)	uc002gim.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		125	Substitution - Missense(95)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Deletion - In frame(3)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.G244C(36)|p.G244S(35)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244E(1)|p.G244fs*19(1)|p.G151C(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(1)	lung(23)|upper_aerodigestive_tract(11)|large_intestine(10)|liver(10)|stomach(9)|endometrium(8)|oesophagus(8)|kidney(7)|breast(7)|biliary_tract(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|bone(4)|central_nervous_system(3)|skin(2)|adrenal_gland(1)|soft_tissue(1)|pancreas(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(730-732)GGC>AGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							147.0	111.0	123.0					17																	7577551		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577551C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.730G>A	17.37:g.7577551C>T	ENSP00000269305:p.Gly244Ser	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_uc002gig.1_Missense_Mutation_p.G244S|TP53_uc002gih.2_Missense_Mutation_p.G244S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G112S|TP53_uc010cng.1_Missense_Mutation_p.G112S|TP53_uc002gii.1_Missense_Mutation_p.G112S|TP53_uc010cnh.1_Missense_Mutation_p.G244S|TP53_uc010cni.1_Missense_Mutation_p.G244S|TP53_uc002gij.2_Missense_Mutation_p.G244S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G151S|TP53_uc002gio.2_Missense_Mutation_p.G112S	p.G244S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	924	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	244		G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.730G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204381	0.95033	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.995;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.946;1.0;1.0;1.0;1.0	D	0.96039	0.9023	10	0.87932	D	0	-29.0146	15.3618	0.74483	0.0:1.0:0.0:0.0	.	244;244;151;244;244;244	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	244;244;244;244;244;244;233;151;112;151	ENSP00000410739:G244S;ENSP00000352610:G244S;ENSP00000269305:G244S;ENSP00000398846:G244S;ENSP00000391127:G244S;ENSP00000391478:G244S;ENSP00000425104:G112S;ENSP00000423862:G151S	ENSP00000269305:G244S	G	-	1	0	TP53	7518276	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7578464	7578464	+	Missense_Mutation	SNP	G	G	A	rs563378859		TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7578464G>A	ENST00000269305.4	-	5	655	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	TP53_ENST00000445888.2_Missense_Mutation_p.R156C|TP53_ENST00000359597.4_Missense_Mutation_p.R156C|TP53_ENST00000455263.2_Missense_Mutation_p.R156C|TP53_ENST00000413465.2_Missense_Mutation_p.R156C|TP53_ENST00000420246.2_Missense_Mutation_p.R156C|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|R -> S (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.R156fs*14(9)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.R156S(3)|p.R156G(3)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156fs*25(2)|p.R156C(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.G154_R156delGTR(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)	GCGCGGACGCGGGTGCCGGGC	0.612		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)	uc002gim.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		58	Deletion - Frameshift(24)|Deletion - In frame(11)|Whole gene deletion(8)|Substitution - Missense(8)|Unknown(5)|Insertion - Frameshift(2)	p.R156P(24)|p.R156H(10)|p.R156fs*14(8)|p.0?(7)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.P152fs*14(3)|p.R156G(3)|p.R156L(3)|p.G154fs*14(2)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.R156C(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)|p.R156fs*20(1)	skin(7)|ovary(7)|upper_aerodigestive_tract(5)|lung(5)|stomach(4)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|bone(4)|large_intestine(3)|oesophagus(3)|urinary_tract(2)|liver(2)|pancreas(2)|soft_tissue(1)|genital_tract(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(466-468)CGC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	52.0	51.0					17																	7578464		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578464G>A	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.466C>T	17.37:g.7578464G>A	ENSP00000269305:p.Arg156Cys	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_uc002gig.1_Missense_Mutation_p.R156C|TP53_uc002gih.2_Missense_Mutation_p.R156C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R24C|TP53_uc010cng.1_Missense_Mutation_p.R24C|TP53_uc002gii.1_Missense_Mutation_p.R24C|TP53_uc010cnh.1_Missense_Mutation_p.R156C|TP53_uc010cni.1_Missense_Mutation_p.R156C|TP53_uc002gij.2_Missense_Mutation_p.R156C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R63C|TP53_uc002gio.2_Missense_Mutation_p.R24C|TP53_uc010vug.1_Missense_Mutation_p.R117C	p.R156C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	660	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	156		R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.466C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	8.015	0.758445	0.15846	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71	5.47	1.13	0.20643	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.599272	0.17934	N	0.157074	D	0.98207	0.9407	L	0.42686	1.345	0.19300	N	0.999978	P;B;B;B;B;B;B	0.41910	0.764;0.026;0.026;0.179;0.017;0.069;0.414	B;B;B;B;B;B;B	0.36134	0.218;0.014;0.007;0.085;0.017;0.036;0.066	D	0.98452	1.0592	10	0.51188	T	0.08	-1.0137	1.5494	0.02571	0.2515:0.1413:0.4617:0.1454	.	117;156;156;63;156;156;156	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	156;156;156;156;156;156;145;63;24;63;24;156	ENSP00000410739:R156C;ENSP00000352610:R156C;ENSP00000269305:R156C;ENSP00000398846:R156C;ENSP00000391127:R156C;ENSP00000391478:R156C;ENSP00000425104:R24C;ENSP00000423862:R63C;ENSP00000424104:R156C	ENSP00000269305:R156C	R	-	1	0	TP53	7519189	0.068000	0.21057	0.000000	0.03702	0.074000	0.17049	-0.035000	0.12205	0.068000	0.16574	0.563000	0.77884	CGC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7578466G>T	ENST00000269305.4	-	5	653	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_ENST00000445888.2_Missense_Mutation_p.T155N|TP53_ENST00000359597.4_Missense_Mutation_p.T155N|TP53_ENST00000455263.2_Missense_Mutation_p.T155N|TP53_ENST00000413465.2_Missense_Mutation_p.T155N|TP53_ENST00000420246.2_Missense_Mutation_p.T155N|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (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.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(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)	GCGGACGCGGGTGCCGGGCGG	0.612		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)	uc002gim.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		75	Substitution - Missense(41)|Deletion - Frameshift(14)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(5)|Insertion - Frameshift(1)	p.T155N(19)|p.T155P(14)|p.T155I(10)|p.0?(7)|p.T155A(7)|p.T155T(5)|p.P152fs*14(3)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155S(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.T155_R156delTR(1)	lung(14)|upper_aerodigestive_tract(11)|breast(8)|skin(6)|stomach(5)|oesophagus(5)|ovary(5)|central_nervous_system(4)|bone(4)|large_intestine(3)|liver(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|pancreas(2)|soft_tissue(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM942117	TP53	M		c.(463-465)ACC>AAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	52.0	51.0					17																	7578466		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578466G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.464C>A	17.37:g.7578466G>T	ENSP00000269305:p.Thr155Asn	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_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.2_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.1_Missense_Mutation_p.T116N	p.T155N	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	658	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	155		T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.464C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529735	0.27387	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	5.47	-0.466	0.12153	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.718085	0.14119	N	0.340173	D	0.99654	0.9872	M	0.76328	2.33	0.09310	N	1	D;P;B;P;B;P;P	0.56746	0.977;0.579;0.032;0.85;0.326;0.786;0.949	P;P;B;P;P;P;P	0.61201	0.885;0.6;0.098;0.676;0.721;0.782;0.707	D	0.99285	1.0897	10	0.87932	D	0	-6.4954	20.1723	0.98160	0.0:0.5036:0.4964:0.0	.	116;155;155;62;155;155;155	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	155;155;155;155;155;155;144;62;23;62;23;155	ENSP00000410739:T155N;ENSP00000352610:T155N;ENSP00000269305:T155N;ENSP00000398846:T155N;ENSP00000391127:T155N;ENSP00000391478:T155N;ENSP00000425104:T23N;ENSP00000423862:T62N;ENSP00000424104:T155N	ENSP00000269305:T155N	T	-	2	0	TP53	7519191	0.057000	0.20700	0.000000	0.03702	0.011000	0.07611	0.842000	0.27627	-0.440000	0.07211	-2.650000	0.00149	ACC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ALOX15B	247	broad.mit.edu	37	17	7942479	7942479	+	Silent	SNP	C	C	T	rs368392738		TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7942479C>T	ENST00000380183.4	+	1	145	c.6C>T	c.(4-6)gcC>gcT	p.A2A	ALOX15B_ENST00000380173.2_Silent_p.A2A|ALOX15B_ENST00000572022.1_Silent_p.A2A|ALOX15B_ENST00000573359.1_Silent_p.A2A	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	2	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCAGCATGGCCGAGTTCAGGG	0.652																																						uc002gju.2																			0				ovary(1)	1						c.(4-6)GCC>GCT		arachidonate 15-lipoxygenase, second type							54.0	56.0	55.0					17																	7942479		2203	4300	6503	SO:0001819	synonymous_variant	247				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7942479C>T	U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.6C>T	17.37:g.7942479C>T						ALOX15B_uc002gjv.2_Silent_p.A2A|ALOX15B_uc002gjw.2_Silent_p.A2A|ALOX15B_uc010vun.1_Silent_p.A2A|ALOX15B_uc010cnp.2_5'UTR	p.A2A	NM_001141	NP_001132	O15296	LX15B_HUMAN			1	122	+			2			PLAT.		D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	ENST00000380183.4	37	c.6C>T	CCDS11128.1																																																																																				0.652	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226985.2		
UBBP4	23666	broad.mit.edu	37	17	21731124	21731124	+	Silent	SNP	C	C	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:21731124C>A	ENST00000578713.1	+	1	430	c.426C>A	c.(424-426)acC>acA	p.T142T	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Silent_p.T142T|UBBP4_ENST00000584398.1_3'UTR					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						AAGAGTCGACCCTGCATCTGG	0.567																																						uc002gyy.3																			0											c.(424-426)ACC>ACA		SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA;																																				SO:0001819	synonymous_variant	0							g.chr17:21731124C>A	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.426C>A	17.37:g.21731124C>A							p.T142T							2	551	+									Silent	SNP	ENST00000578713.1	37	c.426C>A																																																																																					0.567	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2		
BPTF	2186	broad.mit.edu	37	17	65924656	65924656	+	Silent	SNP	A	A	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:65924656A>G	ENST00000321892.4	+	18	6376	c.6315A>G	c.(6313-6315)caA>caG	p.Q2105Q	BPTF_ENST00000335221.5_Silent_p.Q2105Q|BPTF_ENST00000424123.3_Silent_p.Q1966Q|BPTF_ENST00000306378.6_Silent_p.Q1979Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2105					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAACATTCCAACAAAACAAGA	0.393																																						uc002jgf.2																			0				ovary(2)|skin(2)	4						c.(5935-5937)CAA>CAG		bromodomain PHD finger transcription factor							94.0	84.0	87.0					17																	65924656		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65924656A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.6315A>G	17.37:g.65924656A>G						BPTF_uc002jge.2_Silent_p.Q2105Q	p.Q1979Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		16	5998	+	all_cancers(12;6e-11)		2105					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.5937A>G																																																																																					0.393	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
CATSPERD	257062	broad.mit.edu	37	19	5739352	5739352	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:5739352G>C	ENST00000381624.3	+	7	536	c.475G>C	c.(475-477)Gtt>Ctt	p.V159L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	159					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CAGTAATTTGGTTTTTGCATA	0.338																																						uc002mda.2																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(475-477)GTT>CTT		transmembrane protein 146 precursor							71.0	67.0	68.0					19																	5739352		1797	4074	5871	SO:0001583	missense	257062					integral to membrane		g.chr19:5739352G>C	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.475G>C	19.37:g.5739352G>C	ENSP00000371037:p.Val159Leu					TMEM146_uc010duj.1_5'UTR	p.V159L	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			7	536	+			159			Extracellular (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.475G>C	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	5.484	0.274416	0.10403	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.18810	2.19	2.66	-4.51	0.03483	.	0.932289	0.08687	U	0.908592	T	0.13200	0.0320	L	0.43923	1.385	0.20638	N	0.999877	B	0.26602	0.154	B	0.23716	0.048	T	0.32402	-0.9908	10	0.23891	T	0.37	.	4.5458	0.12079	0.5124:0.1735:0.3141:0.0	.	159	Q86XM0	TM146_HUMAN	L	85;159	ENSP00000371037:V159L	ENSP00000371037:V159L	V	+	1	0	TMEM146	5690352	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.849000	0.04322	-0.950000	0.03659	-0.345000	0.07892	GTT		0.338	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784	
MUC16	94025	broad.mit.edu	37	19	9049260	9049260	+	Missense_Mutation	SNP	G	G	A	rs199526498	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:9049260G>A	ENST00000397910.4	-	5	32574	c.32371C>T	c.(32371-32373)Cgg>Tgg	p.R10791W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10793	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						GTCACCAACCGTGATACAGCA	0.483													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		22122	0.0		0.0	False		,,,				2504	0.001					uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(32371-32373)CGG>TGG		mucin 16			TRP/ARG	5,3947		0,5,1971	159.0	144.0	149.0		32371	-2.4	0.0	19		149	3,8321		0,3,4159	yes	missense	MUC16	NM_024690.2	101	0,8,6130	AA,AG,GG		0.036,0.1265,0.0652	possibly-damaging	10791/14508	9049260	8,12268	1976	4162	6138	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049260G>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.32371C>T	19.37:g.9049260G>A	ENSP00000381008:p.Arg10791Trp						p.R10791W	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	32575	-			10793			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.32371C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.977	0.181430	0.09495	0.001265	3.6E-4	ENSG00000181143	ENST00000397910	T	0.03004	4.08	2.81	-2.36	0.06663	.	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	.	.	.	P	0.50066	0.931	P	0.49853	0.624	T	0.41538	-0.9503	8	0.87932	D	0	.	4.0359	0.09729	0.0:0.3601:0.3887:0.2512	.	10791	B5ME49	.	W	10791	ENSP00000381008:R10791W	ENSP00000381008:R10791W	R	-	1	2	MUC16	8910260	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.114000	0.15520	-0.361000	0.08125	-1.835000	0.00590	CGG		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
CASP14	23581	broad.mit.edu	37	19	15164396	15164396	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:15164396G>T	ENST00000427043.3	+	3	439	c.131G>T	c.(130-132)cGg>cTg	p.R44L	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Missense_Mutation_p.R44L	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	44					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.R44Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CACATGTTTCGGCAGCTGAGA	0.527																																						uc010dzv.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(130-132)CGG>CTG		caspase 14 precursor							96.0	92.0	94.0					19																	15164396		2203	4300	6503	SO:0001583	missense	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15164396G>T		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.131G>T	19.37:g.15164396G>T	ENSP00000393417:p.Arg44Leu					CASP14_uc002naf.2_Missense_Mutation_p.R44L	p.R44L	NM_012114	NP_036246	P31944	CASPE_HUMAN			3	439	+			44					O95823|Q3SYC9	Missense_Mutation	SNP	ENST00000427043.3	37	c.131G>T	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	g	5.962	0.361465	0.11296	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	T;T	0.21734	1.99;1.99	4.91	0.166	0.14999	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (2);Peptidase C14, ICE, catalytic subunit p20 (1);	0.740041	0.12562	N	0.458063	T	0.13927	0.0337	L	0.31526	0.94	0.09310	N	1	B	0.15719	0.014	B	0.20384	0.029	T	0.35151	-0.9800	10	0.22706	T	0.39	.	8.9081	0.35537	0.7491:0.0:0.2509:0.0	.	44	P31944	CASPE_HUMAN	L	44	ENSP00000393417:R44L;ENSP00000221740:R44L	ENSP00000221740:R44L	R	+	2	0	CASP14	15025396	0.000000	0.05858	0.029000	0.17559	0.108000	0.19459	-0.206000	0.09398	-0.366000	0.08064	-1.847000	0.00572	CGG		0.527	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114	
PPFIA3	8541	broad.mit.edu	37	19	49651354	49651354	+	Silent	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:49651354C>T	ENST00000334186.4	+	24	3199	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	PPFIA3_ENST00000602351.1_Silent_p.G941G	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	950					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGGCATATGGCGACATGAACC	0.617																																						uc002pmr.2																			0				lung(1)	1						c.(2848-2850)GGC>GGT		PTPRF interacting protein alpha 3							63.0	63.0	63.0					19																	49651354		2203	4300	6503	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49651354C>T	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.2850C>T	19.37:g.49651354C>T						PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Silent_p.G809G|PPFIA3_uc002pmt.2_Silent_p.G89G|PPFIA3_uc002pmu.1_5'UTR	p.G950G	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	24	3182	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	950					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.2850C>T	CCDS12758.1																																																																																				0.617	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660	
KLF11	8462	broad.mit.edu	37	2	10188462	10188462	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:10188462C>T	ENST00000305883.1	+	3	1160	c.998C>T	c.(997-999)gCt>gTt	p.A333V	KLF11_ENST00000535335.1_Missense_Mutation_p.A316V|KLF11_ENST00000540845.1_Missense_Mutation_p.A316V	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	333					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GTGGGACCTGCTGTGCCTCAG	0.622											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(56;431 1507 23687 50789)	uc002raf.1																			0				ovary(2)	2						c.(997-999)GCT>GTT		Kruppel-like factor 11							76.0	71.0	73.0					2																	10188462		2203	4300	6503	SO:0001583	missense	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10188462C>T	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.998C>T	2.37:g.10188462C>T	ENSP00000307023:p.Ala333Val		OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662	KLF11_uc010yjc.1_Missense_Mutation_p.A316V	p.A333V	NM_003597	NP_003588	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	3	1160	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		333					B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	37	c.998C>T	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043335	0.36085	.	.	ENSG00000172059	ENST00000305883;ENST00000540845;ENST00000535335	T;T;T	0.15139	2.47;2.45;2.45	5.34	5.34	0.76211	.	0.377429	0.32002	N	0.006736	T	0.12220	0.0297	N	0.14661	0.345	0.20926	N	0.99982	B	0.14805	0.011	B	0.15870	0.014	T	0.17289	-1.0374	9	.	.	.	.	19.03	0.92952	0.0:1.0:0.0:0.0	.	333	O14901	KLF11_HUMAN	V	333;316;316	ENSP00000307023:A333V;ENSP00000444690:A316V;ENSP00000442722:A316V	.	A	+	2	0	KLF11	10105913	0.121000	0.22262	0.250000	0.24296	0.089000	0.18198	3.915000	0.56409	2.494000	0.84150	0.407000	0.27541	GCT		0.622	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597	
ACTG2	72	broad.mit.edu	37	2	74140711	74140711	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:74140711G>A	ENST00000409624.1	+	7	1194	c.551G>A	c.(550-552)cGt>cAt	p.R184H	ACTG2_ENST00000409731.3_Missense_Mutation_p.R141H|ACTG2_ENST00000345517.3_Missense_Mutation_p.R184H			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	184					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						TTGGCTGGCCGTGACCTCACG	0.552																																						uc002sjw.2																			0					0						c.(550-552)CGT>CAT		actin, gamma 2 propeptide							145.0	126.0	133.0					2																	74140711		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74140711G>A		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.551G>A	2.37:g.74140711G>A	ENSP00000386857:p.Arg184His					ACTG2_uc010fey.2_Missense_Mutation_p.R184H|ACTG2_uc010yrn.1_Missense_Mutation_p.R141H	p.R184H	NM_001615	NP_001606	P63267	ACTH_HUMAN			6	673	+			184					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.551G>A	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.322086	0.81580	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409624	D;D;D	0.94758	-3.51;-3.51;-3.51	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.98188	0.9401	H	0.96460	3.825	0.49582	D	0.999807	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.986	D	0.99160	1.0861	10	0.87932	D	0	.	17.4481	0.87584	0.0:0.0:1.0:0.0	.	141;184	E9PG30;P63267	.;ACTH_HUMAN	H	141;184;184	ENSP00000386929:R141H;ENSP00000295137:R184H;ENSP00000386857:R184H	ENSP00000295137:R184H	R	+	2	0	ACTG2	73994219	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.733000	0.93635	0.557000	0.71058	CGT		0.552	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615	
VIL1	7429	broad.mit.edu	37	2	219301877	219301877	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:219301877G>A	ENST00000248444.5	+	17	2090	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	VIL1_ENST00000392114.2_Missense_Mutation_p.E357K	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	668	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATGCCAACGAGGAGGAGAA	0.577																																						uc002via.2																			0				ovary(1)	1						c.(2002-2004)GAG>AAG		villin 1							117.0	115.0	116.0					2																	219301877		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219301877G>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2002G>A	2.37:g.219301877G>A	ENSP00000248444:p.Glu668Lys					VIL1_uc010zke.1_Missense_Mutation_p.E357K|VIL1_uc002vib.2_Missense_Mutation_p.E668K	p.E668K	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	17	2067	+		Renal(207;0.0474)	668			Gelsolin-like 6.|Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.2002G>A	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.996640	0.35226	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.55588	0.51;0.51	4.86	4.86	0.63082	Gelsolin domain (1);	0.064498	0.64402	D	0.000011	T	0.41190	0.1148	N	0.25201	0.72	0.80722	D	1	B	0.26445	0.149	B	0.21917	0.037	T	0.21280	-1.0250	10	0.33141	T	0.24	-45.6958	18.5502	0.91062	0.0:0.0:1.0:0.0	.	668	P09327	VILI_HUMAN	K	668;357	ENSP00000248444:E668K;ENSP00000375962:E357K	ENSP00000248444:E668K	E	+	1	0	VIL1	219010121	1.000000	0.71417	0.926000	0.36857	0.650000	0.38633	3.913000	0.56394	2.699000	0.92147	0.655000	0.94253	GAG		0.577	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127	
PDYN	5173	broad.mit.edu	37	20	1961151	1961151	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:1961151C>T	ENST00000217305.2	-	4	808	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	PDYN_ENST00000539905.1_Missense_Mutation_p.G195R|PDYN_ENST00000540134.1_Missense_Mutation_p.G195R|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	195					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGCTATCCCCGTCCCCCTCC	0.597																																						uc010gaj.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(583-585)GGG>AGG		beta-neoendorphin-dynorphin preproprotein							90.0	100.0	97.0					20																	1961151		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961151C>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.583G>A	20.37:g.1961151C>T	ENSP00000217305:p.Gly195Arg					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.G195R|PDYN_uc010zpt.1_Missense_Mutation_p.G40R	p.G195R	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	825	-			195					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.583G>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	6.872	0.530261	0.13127	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	T;T;T	0.80738	-1.41;-1.41;-1.41	4.77	3.82	0.43975	.	0.473604	0.22782	N	0.055719	T	0.60625	0.2283	N	0.16066	0.365	0.19300	N	0.999975	B	0.30179	0.271	B	0.19148	0.024	T	0.52586	-0.8556	10	0.42905	T	0.14	-18.6761	6.9862	0.24729	0.0:0.7993:0.0:0.2007	.	195	P01213	PDYN_HUMAN	R	195	ENSP00000440185:G195R;ENSP00000442259:G195R;ENSP00000217305:G195R	ENSP00000217305:G195R	G	-	1	0	PDYN	1909151	0.093000	0.21703	0.168000	0.22838	0.064000	0.16182	2.559000	0.45888	1.227000	0.43598	0.313000	0.20887	GGG		0.597	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2		
RALGAPA2	57186	broad.mit.edu	37	20	20493649	20493649	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:20493649G>C	ENST00000202677.7	-	32	4371	c.4364C>G	c.(4363-4365)tCt>tGt	p.S1455C		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1455					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATCAGAGAGAGAGCCCACTGG	0.478																																						uc002wrz.2																			0				ovary(1)	1						c.(4363-4365)TCT>TGT		akt substrate AS250							51.0	50.0	50.0					20																	20493649		1852	4092	5944	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20493649G>C	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4364C>G	20.37:g.20493649G>C	ENSP00000202677:p.Ser1455Cys					RALGAPA2_uc010gcx.2_Missense_Mutation_p.S1159C|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S903C|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S227C	p.S1455C	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			32	4507	-			1455					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.4364C>G	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	2.076|2.076	-0.411909|-0.411909	0.04799|0.04799	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000430436|ENST00000202677	.|D	.|0.94828	.|-3.53	6.11|6.11	3.13|3.13	0.36017|0.36017	.|.	.|0.630274	.|0.17020	.|N	.|0.190179	D|D	0.89715|0.89715	0.6795|0.6795	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	.|B;P;B	.|0.39181	.|0.239;0.663;0.239	.|B;B;B	.|0.39299	.|0.289;0.296;0.195	T|T	0.79500|0.79500	-0.1778|-0.1778	5|9	.|.	.|.	.|.	.|.	8.9897|8.9897	0.36017|0.36017	0.058:0.2083:0.6268:0.1069|0.058:0.2083:0.6268:0.1069	.|.	.|1293;1455;1455	.|A8MSM5;Q2PPJ7-2;Q2PPJ7	.|.;.;RGPA2_HUMAN	V|C	1272|1455	.|ENSP00000202677:S1455C	.|.	L|S	-|-	1|2	0|0	RALGAPA2|RALGAPA2	20441649|20441649	0.879000|0.879000	0.30193|0.30193	0.046000|0.046000	0.18839|0.18839	0.048000|0.048000	0.14542|0.14542	2.564000|2.564000	0.45931|0.45931	0.171000|0.171000	0.19730|0.19730	-2.244000|-2.244000	0.00286|0.00286	CTC|TCT		0.478	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343	
RALGAPB	57148	broad.mit.edu	37	20	37182634	37182634	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:37182634G>A	ENST00000262879.6	+	22	3571	c.3287G>A	c.(3286-3288)tGc>tAc	p.C1096Y	RALGAPB_ENST00000397038.1_Missense_Mutation_p.C874Y|RALGAPB_ENST00000397040.1_Missense_Mutation_p.C1096Y|RALGAPB_ENST00000397042.3_Missense_Mutation_p.C1092Y			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1096					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTTACGGATTGCAAGCCCCCG	0.478																																						uc002xiw.2																			0				pancreas(1)|skin(1)	2						c.(3286-3288)TGC>TAC		Ral GTPase activating protein, beta subunit							97.0	96.0	96.0					20																	37182634		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37182634G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3287G>A	20.37:g.37182634G>A	ENSP00000262879:p.Cys1096Tyr					RALGAPB_uc002xix.2_Missense_Mutation_p.C1092Y|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.C874Y	p.C1096Y	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			22	3544	+			1096					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.3287G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825523	0.90955	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	M	0.64404	1.975	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.77004	0.989;0.989	D	0.95992	0.8986	10	0.62326	D	0.03	.	20.0851	0.97797	0.0:0.0:1.0:0.0	.	1092;1096	A2A2E9;Q86X10	.;RLGPB_HUMAN	Y	1096;1092;874;1096;924	ENSP00000262879:C1096Y;ENSP00000380235:C1092Y;ENSP00000380231:C874Y;ENSP00000380233:C1096Y;ENSP00000416646:C924Y	ENSP00000262879:C1096Y	C	+	2	0	RALGAPB	36616048	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.758000	0.94735	0.650000	0.86243	TGC		0.478	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	
LAMA5	3911	broad.mit.edu	37	20	60911477	60911477	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:60911477C>T	ENST00000252999.3	-	18	2308	c.2242G>A	c.(2242-2244)Gct>Act	p.A748T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	748	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TCCACGTGAGCCCGGCACATA	0.642																																						uc002ycq.2																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(2242-2244)GCT>ACT		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						45.0	48.0	47.0					20																	60911477		2203	4298	6501	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60911477C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2242G>A	20.37:g.60911477C>T	ENSP00000252999:p.Ala748Thr						p.A748T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		18	2309	-	Breast(26;1.57e-08)		748			Laminin EGF-like 9.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.2242G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269456	0.40095	.	.	ENSG00000130702	ENST00000252999	T	0.63096	-0.02	4.91	4.91	0.64330	EGF-like, laminin (3);EGF-like region, conserved site (1);	0.255861	0.38605	N	0.001639	T	0.70422	0.3222	L	0.49455	1.56	0.80722	D	1	D	0.57257	0.979	P	0.57846	0.828	T	0.68096	-0.5499	10	0.30854	T	0.27	.	17.7046	0.88305	0.0:1.0:0.0:0.0	.	748	O15230	LAMA5_HUMAN	T	748	ENSP00000252999:A748T	ENSP00000252999:A748T	A	-	1	0	LAMA5	60344872	0.111000	0.22076	0.998000	0.56505	0.056000	0.15407	1.378000	0.34328	2.258000	0.74832	0.462000	0.41574	GCT		0.642	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
APOBEC3F	200316	broad.mit.edu	37	22	39448100	39448100	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr22:39448100C>A	ENST00000308521.5	+	6	1102	c.745C>A	c.(745-747)Cat>Aat	p.H249N	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	249	CMP/dCMP deaminase zinc-binding 2.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GACCCATTGTCATGCAGAAAG	0.572																																						uc003aww.2																			0					0						c.(745-747)CAT>AAT		apolipoprotein B mRNA editing enzyme, catalytic							109.0	116.0	113.0					22																	39448100		2203	4297	6500	SO:0001583	missense	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39448100C>A	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.745C>A	22.37:g.39448100C>A	ENSP00000309749:p.His249Asn						p.H249N	NM_145298	NP_660341	Q9HC16	ABC3G_HUMAN			6	1038	+	Melanoma(58;0.04)		257	H->A: Decreases cytidine deaminase activity.			Zinc (By similarity).	B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	c.745C>A	CCDS33648.1	.	.	.	.	.	.	.	.	.	.	.	13.95	2.388540	0.42308	.	.	ENSG00000128394	ENST00000308521	D	0.96522	-4.04	2.1	2.1	0.27182	APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	.	.	.	.	D	0.98147	0.9388	M	0.93062	3.375	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.98059	1.0392	9	0.87932	D	0	.	10.3028	0.43663	0.0:1.0:0.0:0.0	.	249	Q8IUX4	ABC3F_HUMAN	N	249	ENSP00000309749:H249N	ENSP00000309749:H249N	H	+	1	0	APOBEC3F	37778046	0.968000	0.33430	0.023000	0.16930	0.007000	0.05969	4.784000	0.62411	1.505000	0.48720	0.400000	0.26472	CAT		0.572	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298	
RPL14	9045	broad.mit.edu	37	3	40499407	40499407	+	Silent	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:40499407C>T	ENST00000396203.2	+	2	162	c.30C>T	c.(28-30)ggC>ggT	p.G10G	RPL14_ENST00000416518.1_Silent_p.G10G|RPL14_ENST00000338970.6_Silent_p.G10G	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	10					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGAGGTTGGCCGGGTGGCCT	0.443																																						uc003ckg.2																			0					0						c.(28-30)GGC>GGT		ribosomal protein L14							120.0	106.0	111.0					3																	40499407		2203	4300	6503	SO:0001819	synonymous_variant	9045				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr3:40499407C>T	D87735	CCDS33739.1, CCDS43070.1	3p22-p21.2	2008-07-18			ENSG00000188846	ENSG00000188846		"""L ribosomal proteins"""	10305	protein-coding gene	gene with protein product	"""CAG-ISL 7"", ""60S ribosomal protein L14"""					9480843	Standard	NM_003973		Approved	L14, hRL14, RL14, CTG-B33	uc003ckg.4	P50914	OTTHUMG00000156046	ENST00000396203.2:c.30C>T	3.37:g.40499407C>T						RPL14_uc003ckh.2_Silent_p.G10G|RPL14_uc003cki.2_5'UTR	p.G10G	NM_003973	NP_003964	P50914	RL14_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	81	+			10					Q45RF0|Q53G20|Q8TBD5|Q8WUT0|Q92579|Q96GR0|Q9BSB8|Q9BW65|Q9BYF6	Silent	SNP	ENST00000396203.2	37	c.30C>T	CCDS43070.1																																																																																				0.443	RPL14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342889.2	NM_003973	
CDCP1	64866	broad.mit.edu	37	3	45127459	45127459	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:45127459C>T	ENST00000296129.1	-	9	2316	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	728						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GAGTCATTGTCCTTTCGCCCT	0.502																																						uc003com.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2182-2184)GAC>AAC		CUB domain-containing protein 1 isoform 1							218.0	211.0	213.0					3																	45127459		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45127459C>T	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2182G>A	3.37:g.45127459C>T	ENSP00000296129:p.Asp728Asn						p.D728N	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	9	2317	-			728			Cytoplasmic (Potential).		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.2182G>A	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576847	0.45902	.	.	ENSG00000163814	ENST00000296129	T	0.28666	1.6	5.82	5.82	0.92795	.	0.234229	0.49916	D	0.000121	T	0.30386	0.0763	M	0.69823	2.125	0.80722	D	1	P	0.35155	0.487	B	0.34779	0.189	T	0.11641	-1.0579	10	0.34782	T	0.22	.	6.8257	0.23883	0.0:0.7135:0.1761:0.1104	.	728	Q9H5V8	CDCP1_HUMAN	N	728	ENSP00000296129:D728N	ENSP00000296129:D728N	D	-	1	0	CDCP1	45102463	1.000000	0.71417	0.992000	0.48379	0.511000	0.34104	2.360000	0.44151	2.756000	0.94617	0.563000	0.77884	GAC		0.502	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842	
SLC15A2	6565	broad.mit.edu	37	3	121641692	121641692	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:121641692C>T	ENST00000489711.1	+	9	1239	c.851C>T	c.(850-852)gCg>gTg	p.A284V	AC072031.1_ENST00000581491.1_RNA|SLC15A2_ENST00000295605.2_Missense_Mutation_p.A253V	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	284					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTAGACTGGGCGGCTGAGAAA	0.433																																						uc003eep.2																			0				skin(1)	1						c.(850-852)GCG>GTG		peptide transporter 2 isoform a	Cefadroxil(DB01140)						54.0	53.0	54.0					3																	121641692		2203	4300	6503	SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121641692C>T	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.851C>T	3.37:g.121641692C>T	ENSP00000417085:p.Ala284Val					SLC15A2_uc011bjn.1_Missense_Mutation_p.A253V	p.A284V	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	9	1004	+			284					A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	c.851C>T	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692010	0.88735	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.04083	3.71;3.71	5.78	4.89	0.63831	Major facilitator superfamily domain, general substrate transporter (1);	0.153445	0.64402	D	0.000019	T	0.28067	0.0692	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.21008	-1.0258	10	0.87932	D	0	-12.7339	13.8706	0.63617	0.1536:0.8464:0.0:0.0	.	253;284	B4E2A7;Q16348	.;S15A2_HUMAN	V	284;246;253	ENSP00000417085:A284V;ENSP00000295605:A253V	ENSP00000295605:A253V	A	+	2	0	SLC15A2	123124382	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.751000	0.68720	1.413000	0.46997	0.650000	0.86243	GCG		0.433	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082	
ILDR1	286676	broad.mit.edu	37	3	121712145	121712145	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:121712145T>G	ENST00000344209.5	-	7	1577	c.1451A>C	c.(1450-1452)gAc>gCc	p.D484A	ILDR1_ENST00000393631.1_Missense_Mutation_p.D395A|ILDR1_ENST00000462014.1_Missense_Mutation_p.D452A|ILDR1_ENST00000273691.3_Missense_Mutation_p.D440A|ILDR1_ENST00000460554.1_5'UTR	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	484					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CCTCTCCTTGTCCTCTTCAGA	0.677																																						uc003ees.2																			0				skin(1)	1						c.(1450-1452)GAC>GCC		immunoglobulin-like domain containing receptor							20.0	23.0	22.0					3																	121712145		2202	4300	6502	SO:0001583	missense	286676					cytosol|integral to membrane|plasma membrane	receptor activity	g.chr3:121712145T>G	BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1451A>C	3.37:g.121712145T>G	ENSP00000345667:p.Asp484Ala					ILDR1_uc003eeq.2_Missense_Mutation_p.D452A|ILDR1_uc003eer.2_Missense_Mutation_p.D440A|ILDR1_uc010hrg.2_Missense_Mutation_p.D395A	p.D484A	NM_175924	NP_787120	Q86SU0	ILDR1_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	7	1557	-			484			Cytoplasmic (Potential).		Q6ZP61|Q7Z578	Missense_Mutation	SNP	ENST00000344209.5	37	c.1451A>C	CCDS56271.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500851	0.44455	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.77750	-0.47;-0.51;-1.12;-0.07	5.76	4.61	0.57282	.	0.226724	0.52532	D	0.000074	T	0.66906	0.2837	L	0.36672	1.1	0.24630	N	0.993621	B;B;B;B	0.15473	0.004;0.002;0.004;0.013	B;B;B;B	0.21917	0.022;0.01;0.022;0.037	T	0.53229	-0.8468	10	0.23891	T	0.37	-9.924	9.7248	0.40324	0.0:0.0816:0.0:0.9184	.	395;484;440;452	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	A	440;484;395;452	ENSP00000273691:D440A;ENSP00000345667:D484A;ENSP00000377251:D395A;ENSP00000419414:D452A	ENSP00000273691:D440A	D	-	2	0	ILDR1	123194835	0.980000	0.34600	0.384000	0.26145	0.902000	0.53008	1.913000	0.39956	1.019000	0.39547	0.460000	0.39030	GAC		0.677	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355666.1	NM_175924	
PIK3CA	5290	broad.mit.edu	37	3	178938803	178938803	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:178938803delA	ENST00000263967.3	+	14	2202	c.2045delA	c.(2044-2046)cagfs	p.Q682fs		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	682	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACAGTTAGCCAGAGGTTTGGC	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(2044-2046)CAGfs		phosphoinositide-3-kinase, catalytic, alpha							74.0	62.0	66.0					3																	178938803		1840	4077	5917	SO:0001589	frameshift_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178938803delA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2045delA	3.37:g.178938803delA	ENSP00000263967:p.Gln682fs	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.Q682fs	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		14	2202	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		682			PI3K helical.		Q14CW1|Q99762	Frame_Shift_Del	DEL	ENST00000263967.3	37	c.2045delA	CCDS43171.1																																																																																				0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
HTRA3	94031	broad.mit.edu	37	4	8307709	8307709	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:8307709A>G	ENST00000307358.2	+	9	1412	c.1208A>G	c.(1207-1209)cAa>cGa	p.Q403R		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	403	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCGGCATCCAAGATGGTGAC	0.647																																						uc003gla.2																			0				ovary(1)	1						c.(1207-1209)CAA>CGA		HtrA serine peptidase 3 precursor							102.0	91.0	95.0					4																	8307709		2203	4300	6503	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8307709A>G	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1208A>G	4.37:g.8307709A>G	ENSP00000303766:p.Gln403Arg						p.Q403R	NM_053044	NP_444272	P83110	HTRA3_HUMAN			9	1412	+			403			PDZ.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.1208A>G	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	A	8.473	0.857947	0.17178	.	.	ENSG00000170801	ENST00000307358	T	0.71934	-0.61	4.08	4.08	0.47627	PDZ/DHR/GLGF (4);	0.281603	0.34652	N	0.003791	T	0.47340	0.1440	N	0.05414	-0.055	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.40346	-0.9568	10	0.10111	T	0.7	-15.1546	13.3595	0.60648	1.0:0.0:0.0:0.0	.	403	P83110	HTRA3_HUMAN	R	403	ENSP00000303766:Q403R	ENSP00000303766:Q403R	Q	+	2	0	HTRA3	8358609	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.548000	0.60718	1.635000	0.50512	0.248000	0.18094	CAA		0.647	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044	
N4BP2	55728	broad.mit.edu	37	4	40127847	40127847	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:40127847C>T	ENST00000261435.6	+	12	4840	c.4424C>T	c.(4423-4425)tCt>tTt	p.S1475F		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1475					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTAACAGCATCTGAAATGCTA	0.338																																						uc003guy.3																			0				lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(4423-4425)TCT>TTT		Nedd4 binding protein 2							94.0	98.0	97.0					4																	40127847		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40127847C>T	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4424C>T	4.37:g.40127847C>T	ENSP00000261435:p.Ser1475Phe					N4BP2_uc010ifq.2_Missense_Mutation_p.S1395F|N4BP2_uc010ifr.2_Missense_Mutation_p.S1395F	p.S1475F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			12	4762	+			1475					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.4424C>T	CCDS3457.1	.	.	.	.	.	.	.	.	.	.	C	7.176	0.588536	0.13812	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.20200	2.09	5.86	5.01	0.66863	.	0.928935	0.09135	N	0.843812	T	0.20047	0.0482	L	0.29908	0.895	0.21822	N	0.999524	B;B	0.26195	0.144;0.089	B;B	0.31442	0.13;0.061	T	0.28170	-1.0052	10	0.10636	T	0.68	0.2758	16.321	0.82951	0.1336:0.8664:0.0:0.0	.	1475;1475	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	F	1475;1395	ENSP00000261435:S1475F	ENSP00000261435:S1475F	S	+	2	0	N4BP2	39804242	0.908000	0.30866	0.476000	0.27291	0.003000	0.03518	2.371000	0.44248	1.603000	0.50134	-0.188000	0.12872	TCT		0.338	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177	
NAA11	84779	broad.mit.edu	37	4	80246554	80246554	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:80246554G>A	ENST00000286794.4	-	1	650	c.478C>T	c.(478-480)Cga>Tga	p.R160*	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	160					N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCCATTTGTCGTCTCAGCTCA	0.517																																						uc003hlt.3																			0				ovary(1)|central_nervous_system(1)	2						c.(478-480)CGA>TGA		alpha-N-acetyltransferase 1B							61.0	62.0	62.0					4																	80246554		2025	4207	6232	SO:0001587	stop_gained	84779					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	g.chr4:80246554G>A		CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.478C>T	4.37:g.80246554G>A	ENSP00000286794:p.Arg160*						p.R160*	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN			1	618	-			160					Q66K19|Q6P479	Nonsense_Mutation	SNP	ENST00000286794.4	37	c.478C>T	CCDS47084.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539616	0.96474	.	.	ENSG00000156269	ENST00000286794	.	.	.	5.08	0.76	0.18442	.	0.318423	0.26143	U	0.026088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8424	13.4071	0.60919	0.0:0.0:0.3191:0.6809	.	.	.	.	X	160	.	ENSP00000286794:R160X	R	-	1	2	NAA11	80465578	0.006000	0.16342	0.278000	0.24718	0.673000	0.39480	0.054000	0.14205	0.293000	0.22520	0.591000	0.81541	CGA		0.517	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362922.1		
ANKRD50	57182	broad.mit.edu	37	4	125591834	125591834	+	Silent	SNP	A	A	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:125591834A>G	ENST00000504087.1	-	4	3635	c.2598T>C	c.(2596-2598)ctT>ctC	p.L866L	ANKRD50_ENST00000515641.1_Silent_p.L687L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	866										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTTGTTCAATAAGTGCTTCAC	0.393																																						uc003ifg.3																			0				central_nervous_system(1)	1						c.(2596-2598)CTT>CTC		ankyrin repeat domain 50							166.0	160.0	162.0					4																	125591834		2203	4300	6503	SO:0001819	synonymous_variant	57182							g.chr4:125591834A>G	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.2598T>C	4.37:g.125591834A>G						ANKRD50_uc011cgo.1_Silent_p.L687L|ANKRD50_uc010inw.2_Silent_p.L866L	p.L866L	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	2864	-			866			ANK 12.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Silent	SNP	ENST00000504087.1	37	c.2598T>C	CCDS34060.1																																																																																				0.393	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
NEIL3	55247	broad.mit.edu	37	4	178274739	178274739	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:178274739T>G	ENST00000264596.3	+	8	1435	c.1317T>G	c.(1315-1317)gaT>gaG	p.D439E	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	439					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAACAAACGATATAACTCAAC	0.373								Base excision repair (BER), DNA glycosylases																														uc003iut.2																			0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(1315-1317)GAT>GAG	BER_DNA_glycosylases	nei endonuclease VIII-like 3							91.0	87.0	88.0					4																	178274739		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178274739T>G	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1317T>G	4.37:g.178274739T>G	ENSP00000264596:p.Asp439Glu					NEIL3_uc010irs.2_3'UTR	p.D439E	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	8	1434	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	439					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.1317T>G	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.872923	0.00542	.	.	ENSG00000109674	ENST00000264596	T	0.03635	3.86	5.09	2.62	0.31277	.	1.315570	0.04404	N	0.364698	T	0.02649	0.0080	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44143	-0.9347	10	0.02654	T	1	-0.3141	4.3439	0.11124	0.1474:0.1662:0.0:0.6864	.	439	Q8TAT5	NEIL3_HUMAN	E	439	ENSP00000264596:D439E	ENSP00000264596:D439E	D	+	3	2	NEIL3	178511733	0.000000	0.05858	0.001000	0.08648	0.203000	0.24098	-0.169000	0.09911	0.979000	0.38497	0.455000	0.32223	GAT		0.373	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248	
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																						uc010itg.1																			0					0						c.(196-198)GCA>ACA		Homo sapiens cDNA clone IMAGE:40127561.																																						728609							g.chr5:1593264C>T																													5.37:g.1593264C>T						SDHAP3_uc011cme.1_RNA	p.A66T							2	273	-									Missense_Mutation	SNP	ENST00000605200.1	37	c.196G>A																																																																																					0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1		
ATG12	9140	broad.mit.edu	37	5	115177234	115177234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr5:115177234G>A	ENST00000509910.1	-	1	321	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	ATG12_ENST00000500945.2_Nonsense_Mutation_p.Q6*|ATG12_ENST00000274459.4_Nonsense_Mutation_p.Q53*|ATG12_ENST00000509598.1_5'Flank|AP3S1_ENST00000316788.7_5'UTR			O94817	ATG12_HUMAN	autophagy related 12	6					autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		AACACAGACTGCGGCTCCTCC	0.607																																						uc003krh.2																			0					0						c.(157-159)CAG>TAG		APG12 autophagy 12-like							76.0	85.0	82.0					5																	115177234		2202	4300	6502	SO:0001587	stop_gained	9140				autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	g.chr5:115177234G>A	AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.16C>T	5.37:g.115177234G>A	ENSP00000425107:p.Gln6*					AP3S1_uc003krl.2_5'Flank|AP3S1_uc003krk.2_5'Flank|AP3S1_uc003krm.2_5'Flank|ATG12_uc003kri.2_Nonsense_Mutation_p.Q53*|ATG12_uc003krj.2_RNA	p.Q53*	NM_004707	NP_004698	O94817	ATG12_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	1	266	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	6					Q6PJV2	Nonsense_Mutation	SNP	ENST00000509910.1	37	c.157C>T	CCDS4122.2	.	.	.	.	.	.	.	.	.	.	G	35	5.569962	0.96540	.	.	ENSG00000145782	ENST00000274459;ENST00000509910;ENST00000500945	.	.	.	4.87	1.99	0.26369	.	0.589274	0.15914	N	0.238470	.	.	.	.	.	.	0.20764	N	0.999853	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-19.0618	8.6744	0.34170	0.0:0.4629:0.4495:0.0876	.	.	.	.	X	53;6;6	.	ENSP00000274459:Q53X	Q	-	1	0	ATG12	115205133	0.316000	0.24580	0.011000	0.14972	0.006000	0.05464	1.839000	0.39220	0.482000	0.27582	-0.165000	0.13383	CAG		0.607	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3	NM_004707	
PCDHB10	56126	broad.mit.edu	37	5	140573541	140573541	+	Silent	SNP	C	C	T	rs17844565	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr5:140573541C>T	ENST00000239446.4	+	1	1600	c.1416C>T	c.(1414-1416)agC>agT	p.S472S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	472	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S472S(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCGGCAGCGTCAGCGCCA	0.662													C|||	20	0.00399361	0.0144	0.0014	5008	,	,		16966	0.0		0.0	False		,,,				2504	0.0					uc003lix.2																			1	Substitution - coding silent(1)		prostate(1)	ovary(1)|skin(1)	2						c.(1414-1416)AGC>AGT		protocadherin beta 10 precursor		C		43,4361		0,43,2159	42.0	51.0	48.0		1416	1.4	0.9	5	dbSNP_123	48	2,8586		0,2,4292	no	coding-synonymous	PCDHB10	NM_018930.3		0,45,6451	TT,TC,CC		0.0233,0.9764,0.3464		472/801	140573541	45,12947	2202	4294	6496	SO:0001819	synonymous_variant	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573541C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1416C>T	5.37:g.140573541C>T							p.S472S	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1590	+			472			Cadherin 5.|Extracellular (Potential).		Q96T99	Silent	SNP	ENST00000239446.4	37	c.1416C>T	CCDS4252.1																																																																																				0.662	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
ZUFSP	221302	broad.mit.edu	37	6	116987896	116987896	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr6:116987896G>T	ENST00000368576.3	-	2	703	c.460C>A	c.(460-462)Cct>Act	p.P154T	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Missense_Mutation_p.P154T	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	154							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GGACATTCAGGAGGACTGTAT	0.378																																						uc003pxf.1																			0				skin(1)	1						c.(460-462)CCT>ACT		zinc finger with UFM1-specific peptidase domain							124.0	113.0	116.0					6																	116987896		2203	4300	6503	SO:0001583	missense	221302					intracellular	zinc ion binding	g.chr6:116987896G>T	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.460C>A	6.37:g.116987896G>T	ENSP00000357565:p.Pro154Thr					ZUFSP_uc010kef.1_Intron	p.P154T	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	2	706	-			154			C2H2-type 2.		Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	c.460C>A	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373079	0.24857	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	T;T	0.27557	1.66;1.67	5.75	5.75	0.90469	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.18635	0.0447	M	0.63843	1.955	0.49299	D	0.999774	B	0.30824	0.296	B	0.23275	0.045	T	0.02691	-1.1123	10	0.22706	T	0.39	-15.7139	17.4446	0.87574	0.0:0.0:1.0:0.0	.	154	Q96AP4	ZUFSP_HUMAN	T	154	ENSP00000357565:P154T;ENSP00000357562:P154T	ENSP00000357562:P154T	P	-	1	0	ZUFSP	117094589	0.999000	0.42202	0.763000	0.31416	0.048000	0.14542	5.239000	0.65371	2.705000	0.92388	0.655000	0.94253	CCT		0.378	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062	
LAMA2	3908	broad.mit.edu	37	6	129573419	129573419	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr6:129573419T>C	ENST00000421865.2	+	14	2124	c.2075T>C	c.(2074-2076)tTt>tCt	p.F692S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	692	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACATACAGCTTTGGGATGGAT	0.453																																						uc003qbn.2																			0				ovary(8)|breast(1)|skin(1)	10						c.(2074-2076)TTT>TCT		laminin alpha 2 subunit isoform a precursor							71.0	69.0	70.0					6																	129573419		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129573419T>C	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2075T>C	6.37:g.129573419T>C	ENSP00000400365:p.Phe692Ser					LAMA2_uc003qbo.2_Missense_Mutation_p.F692S	p.F692S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	14	2180	+			692			Laminin IV type A 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.2075T>C	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	T	9.783	1.175776	0.21704	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.32515	1.45	5.53	1.66	0.24008	Laminin B type IV (2);Laminin B, subgroup (1);	0.781758	0.12223	N	0.488168	T	0.05135	0.0137	N	0.16368	0.405	0.25453	N	0.987989	B;B	0.18013	0.025;0.025	B;B	0.18871	0.023;0.023	T	0.44877	-0.9299	10	0.17369	T	0.5	.	6.4653	0.21977	0.5253:0.0731:0.0:0.4016	.	692;692	A6NF00;P24043	.;LAMA2_HUMAN	S	692	ENSP00000400365:F692S	ENSP00000346769:F692S	F	+	2	0	LAMA2	129615112	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.744000	0.38268	0.102000	0.17638	0.477000	0.44152	TTT		0.453	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
PLXNA4	91584	broad.mit.edu	37	7	131982916	131982916	+	Silent	SNP	G	G	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr7:131982916G>T	ENST00000359827.3	-	4	2399	c.1437C>A	c.(1435-1437)ggC>ggA	p.G479G	PLXNA4_ENST00000321063.4_Silent_p.G479G			Q9HCM2	PLXA4_HUMAN	plexin A4	479	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGAGGACTGGGCCGGGGTCCA	0.582																																						uc003vra.3																			0				ovary(1)	1						c.(1435-1437)GGC>GGA		plexin A4 isoform 1							70.0	76.0	74.0					7																	131982916		1967	4143	6110	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131982916G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1437C>A	7.37:g.131982916G>T							p.G479G	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			4	1666	-			479			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.1437C>A	CCDS43646.1																																																																																				0.582	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
DLGAP2	9228	broad.mit.edu	37	8	1574988	1574988	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr8:1574988C>T	ENST00000421627.2	+	4	1419	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	508					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCGAAATTCCGCTCCCGGAA	0.617																																						uc003wpl.2																			0					0						c.(1285-1287)CGC>TGC		discs large-associated protein 2							39.0	43.0	42.0					8																	1574988		1982	4166	6148	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1574988C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1285C>T	8.37:g.1574988C>T	ENSP00000400258:p.Arg429Cys					DLGAP2_uc003wpm.2_Missense_Mutation_p.R429C	p.R429C	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	4	1382	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	508					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.1285C>T	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.451467	0.84209	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.24151	1.87	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.55800	0.1943	M	0.86028	2.79	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;P	0.65010	0.931;0.891	T	0.64313	-0.6437	10	0.87932	D	0	-20.2419	18.6392	0.91389	0.0:1.0:0.0:0.0	.	508;508	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	C	474;429	ENSP00000400258:R429C	ENSP00000348366:R474C	R	+	1	0	DLGAP2	1562395	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	5.658000	0.68003	2.375000	0.81037	0.655000	0.94253	CGC		0.617	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
MPDZ	8777	broad.mit.edu	37	9	13162794	13162794	+	Splice_Site	SNP	T	T	C			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr9:13162794T>C	ENST00000319217.7	-	23	3502	c.3255A>G	c.(3253-3255)aaA>aaG	p.K1085K	MPDZ_ENST00000538841.1_5'UTR|MPDZ_ENST00000536827.1_Splice_Site_p.K1085K|MPDZ_ENST00000381022.2_Splice_Site_p.K1085K|MPDZ_ENST00000381015.4_Splice_Site_p.K1085K|MPDZ_ENST00000447879.1_Splice_Site_p.K1085K|MPDZ_ENST00000546205.1_Splice_Site_p.V1099V|MPDZ_ENST00000541718.1_Splice_Site_p.K1085K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1085	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CATAAGTAATTCTGGAACAAA	0.348																																						uc010mia.1																			0				ovary(5)|central_nervous_system(1)	6						c.(3253-3255)AAA>AAG		multiple PDZ domain protein							88.0	81.0	83.0					9																	13162794		1824	4082	5906	SO:0001630	splice_region_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13162794T>C	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3255-1A>G	9.37:g.13162794T>C						MPDZ_uc010mhx.2_5'UTR|MPDZ_uc011lmm.1_5'UTR|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Silent_p.K1085K|MPDZ_uc010mhz.2_Silent_p.K1085K|MPDZ_uc011lmn.1_Silent_p.K1085K|MPDZ_uc003zlb.3_Silent_p.K1085K	p.K1085K	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	22	3312	-			1085			PDZ 6.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.3255A>G																																																																																					0.348	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	Silent
DCAF12L1	139170	broad.mit.edu	37	X	125685588	125685588	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chrX:125685588C>T	ENST00000371126.1	-	1	1246	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	335										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGGTCCTGGCGCAGATCCAG	0.597																																						uc004eul.2																			0				skin(3)|ovary(1)	4						c.(1003-1005)CGC>CAC		DDB1 and CUL4 associated factor 12-like 1							50.0	47.0	48.0					X																	125685588		2203	4299	6502	SO:0001583	missense	139170							g.chrX:125685588C>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.1004G>A	X.37:g.125685588C>T	ENSP00000360167:p.Arg335His						p.R335H	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1255	-			335					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1004G>A	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001874	0.54254	.	.	ENSG00000198889	ENST00000371126	T	0.67523	-0.27	3.64	2.77	0.32553	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.32802	N	0.005622	T	0.79890	0.4524	M	0.82323	2.585	0.37719	D	0.924847	D	0.89917	1.0	D	0.85130	0.997	T	0.82222	-0.0564	10	0.72032	D	0.01	.	8.5546	0.33474	0.0:0.8793:0.0:0.1207	.	335	Q5VU92	DC121_HUMAN	H	335	ENSP00000360167:R335H	ENSP00000360167:R335H	R	-	2	0	DCAF12L1	125513269	1.000000	0.71417	0.014000	0.15608	0.382000	0.30200	4.631000	0.61304	0.925000	0.37094	0.429000	0.28392	CGC		0.597	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470	
VAMP7	6845	broad.mit.edu	37	X	155169439	155169439	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chrX:155169439C>G	ENST00000286448.6	+	7	741	c.576C>G	c.(574-576)atC>atG	p.I192M	VAMP7_ENST00000262640.6_Missense_Mutation_p.H170D|VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_Missense_Mutation_p.I151M	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	192					calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCACTATTATCATCATCATCG	0.333																																						uc004fnr.2																			0					0						c.(574-576)ATC>ATG		vesicle-associated membrane protein 7 isoform 1							574.0	583.0	580.0					X																	155169439		2203	4296	6499	SO:0001583	missense	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155169439C>G	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.576C>G	X.37:g.155169439C>G	ENSP00000286448:p.Ile192Met					VAMP7_uc004fnt.2_Missense_Mutation_p.I151M|VAMP7_uc011naa.1_Missense_Mutation_p.I153M|VAMP7_uc011nab.1_Missense_Mutation_p.I91M|VAMP7_uc004fns.2_Missense_Mutation_p.H170D|VAMP7_uc011nac.1_Missense_Mutation_p.I125M	p.I192M	NM_005638	NP_005629	P51809	VAMP7_HUMAN			7	750	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		192			Helical; Anchor for type IV membrane protein; (Potential).		Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	ENST00000286448.6	37	c.576C>G	CCDS14770.4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.132|5.132	0.209907|0.209907	0.09757|0.09757	.|.	.|.	ENSG00000124333|ENSG00000124333	ENST00000262640|ENST00000286448;ENST00000460621	T|T;T	0.18338|0.51817	2.22|0.69;0.69	2.99|2.99	2.1|2.1	0.27182|0.27182	.|Synaptobrevin (2);	0.996703|.	0.08134|.	N|.	0.992614|.	T|T	0.52964|0.52964	0.1767|0.1767	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|P;B;P;P	0.34241|0.48350	0.444|0.909;0.152;0.785;0.909	B|P;B;P;P	0.32149|0.57371	0.141|0.819;0.232;0.7;0.772	T|T	0.37314|0.37314	-0.9711|-0.9711	9|8	0.06236|0.35671	T|T	0.91|0.21	.|.	5.8254|5.8254	0.18550|0.18550	0.1872:0.6878:0.0:0.125|0.1872:0.6878:0.0:0.125	.|.	170|125;153;151;192	P51809-2|B4DE96;B4DIH9;P51809-3;P51809	.|.;.;.;VAMP7_HUMAN	D|M	170|192;151	ENSP00000262640:H170D|ENSP00000286448:I192M;ENSP00000427822:I151M	ENSP00000262640:H170D|ENSP00000286448:I192M	H|I	+|+	1|3	0|3	VAMP7|VAMP7	154822633|154822633	1.000000|1.000000	0.71417|0.71417	0.678000|0.678000	0.29963|0.29963	0.009000|0.009000	0.06853|0.06853	2.060000|2.060000	0.41394|0.41394	0.050000|0.050000	0.15949|0.15949	-2.004000|-2.004000	0.00443|0.00443	CAT|ATC		0.333	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	NM_005638	
