#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SGSM2	9905	broad.mit.edu	37	17	2282481	2282481	+	Silent	SNP	C	C	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:2282481C>A	ENST00000426855.2	+	22	3091	c.2916C>A	c.(2914-2916)atC>atA	p.I972I	SGSM2_ENST00000268989.3_Silent_p.I1017I|SGSM2_ENST00000574563.1_Silent_p.I972I|RP1-59D14.5_ENST00000573007.1_RNA|RP1-59D14.5_ENST00000574290.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	972					late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TCACTGACATCATCAAGTTTT	0.582																																						ENST00000268989.3																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(3049-3051)atC>atA		small G protein signaling modulator 2							206.0	160.0	176.0					17																	2282481		2203	4300	6503	SO:0001819	synonymous_variant	9905					intracellular	Rab GTPase activator activity	g.chr17:2282481C>A	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.2916C>A	17.37:g.2282481C>A						RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Silent_p.I972I|SGSM2_ENST00000574563.1_Silent_p.I972I	p.I1017I	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	23	3228	+			972					A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Silent	SNP	ENST00000426855.2	37	c.3051C>A	CCDS45570.1																																																																																				0.582	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853		26	71	1	0	7.26314e-15	1	7.8328e-15	26	71				
SLC7A2	6542	broad.mit.edu	37	8	17409358	17409358	+	Silent	SNP	C	C	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:17409358C>A	ENST00000494857.1	+	7	1136	c.918C>A	c.(916-918)gtC>gtA	p.V306V	SLC7A2_ENST00000004531.10_Silent_p.V346V|SLC7A2_ENST00000398090.3_Silent_p.V346V|SLC7A2_ENST00000522656.1_Silent_p.V306V|SLC7A2_ENST00000470360.1_Silent_p.V346V	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	306					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATTTTGGGGTCTCTGCAGCTT	0.438																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1036-1038)gtC>gtA		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						246.0	225.0	232.0					8																	17409358		2203	4300	6503	SO:0001819	synonymous_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17409358C>A	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.918C>A	8.37:g.17409358C>A						SLC7A2_ENST00000004531.10_Silent_p.V346V|SLC7A2_ENST00000494857.1_Silent_p.V306V|SLC7A2_ENST00000398090.3_Silent_p.V346V|SLC7A2_ENST00000522656.1_Silent_p.V306V	p.V346V			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	8	1155	+			306					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.1038C>A	CCDS34852.1																																																																																				0.438	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		39	86	1	0	8.16277e-20	1	9.55218e-20	39	86				
CYP11B1	1584	broad.mit.edu	37	8	143956706	143956706	+	Silent	SNP	G	G	A	rs5293	byFrequency	TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:143956706G>A	ENST00000292427.4	-	7	1176	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	CYP11B1_ENST00000377675.3_Silent_p.L453L|CYP11B1_ENST00000517471.1_Silent_p.L382L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	382					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.L382L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	ACTCGCTCCAGAAACAGACCC	0.607									Familial Hyperaldosteronism type I				.|||	14	0.00279553	0.0008	0.0043	5008	,	,		15997	0.0		0.006	False		,,,				2504	0.0041					ENST00000292427.4																			1	Substitution - coding silent(1)	p.L382L(1)	lung(1)	central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(1144-1146)Ctg>Ttg		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)						61.0	61.0	61.0					8																	143956706		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956706G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1144C>T	8.37:g.143956706G>A						CYP11B1_ENST00000377675.3_Silent_p.L453L|CYP11B1_ENST00000517471.1_Silent_p.L382L	p.L382L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			7	1176	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		382					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	c.1144C>T	CCDS6392.1																																																																																				0.607	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			6	64	0	0	0	1	0	6	64				
APOBR	55911	broad.mit.edu	37	16	28510981	28510981	+	IGR	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:28510981G>A	ENST00000431282.1	+	0	3414				IL27_ENST00000356897.1_Silent_p.P241P			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						ATCAGGGCTGGGGGCTCAATG	0.607																																						ENST00000356897.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						c.(721-723)ccC>ccT		interleukin 27							22.0	22.0	22.0					16																	28510981		2192	4298	6490	SO:0001628	intergenic_variant	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28510981G>A	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83			16.37:g.28510981G>A							p.P241P	NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN			5	745	-			241					H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Silent	SNP	ENST00000431282.1	37	c.723C>T																																																																																					0.607	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		3	23	0	0	0	1	0	3	23				
RNF186	54546	broad.mit.edu	37	1	20141126	20141126	+	Missense_Mutation	SNP	C	C	T	rs41264109	byFrequency	TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:20141126C>T	ENST00000375121.2	-	1	645	c.469G>A	c.(469-471)Gcg>Acg	p.A157T	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	157						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGTAGGTGCGCGGCCAGGCGC	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		18179	0.002		0.0	False		,,,				2504	0.0					ENST00000375121.2																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(469-471)Gcg>Acg		ring finger protein 186		C	THR/ALA	0,4406		0,0,2203	95.0	111.0	106.0		469	4.7	0.0	1	dbSNP_127	106	4,8596	3.7+/-12.6	0,4,4296	yes	missense	RNF186	NM_019062.1	58	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	possibly-damaging	157/228	20141126	4,13002	2203	4300	6503	SO:0001583	missense	54546					integral to membrane	zinc ion binding	g.chr1:20141126C>T		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.469G>A	1.37:g.20141126C>T	ENSP00000364263:p.Ala157Thr					RP11-91K11.2_ENST00000454736.1_RNA	p.A157T	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	645	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	157					Q53GE0	Missense_Mutation	SNP	ENST00000375121.2	37	c.469G>A	CCDS199.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918771	0.33908	0.0	4.65E-4	ENSG00000178828	ENST00000375121	T	0.31510	1.49	5.61	4.69	0.59074	.	0.457119	0.18385	N	0.142843	T	0.24812	0.0602	L	0.40543	1.245	0.09310	N	1	P	0.50710	0.938	B	0.42386	0.386	T	0.14090	-1.0485	10	0.38643	T	0.18	-7.6977	8.7723	0.34740	0.0:0.6774:0.2414:0.0812	rs41264109	157	Q9NXI6	RN186_HUMAN	T	157	ENSP00000364263:A157T	ENSP00000364263:A157T	A	-	1	0	RNF186	20013713	0.729000	0.28090	0.021000	0.16686	0.750000	0.42670	2.218000	0.42889	2.633000	0.89246	0.655000	0.94253	GCG		0.612	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		5	200	0	0	0	1	0	5	200				
ARHGAP31	57514	broad.mit.edu	37	3	119132892	119132892	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:119132892T>G	ENST00000264245.4	+	12	2648	c.2116T>G	c.(2116-2118)Tcc>Gcc	p.S706A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	706	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCTTGTGGCTCCTTCCCTGC	0.602																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(2116-2118)Tcc>Gcc		Rho GTPase activating protein 31							94.0	95.0	95.0					3																	119132892		1927	4138	6065	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119132892T>G		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2116T>G	3.37:g.119132892T>G	ENSP00000264245:p.Ser706Ala						p.S706A	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	2648	+			706			Pro-rich.		Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.2116T>G	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	T	8.270	0.813129	0.16537	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.06449	3.3	4.1	2.91	0.33838	.	0.519560	0.15627	N	0.252620	T	0.03959	0.0111	N	0.19112	0.55	0.09310	N	1	B	0.26363	0.147	B	0.24701	0.055	T	0.40021	-0.9585	10	0.62326	D	0.03	.	2.4588	0.04536	0.2049:0.2432:0.0:0.5519	.	706	Q2M1Z3	RHG31_HUMAN	A	706	ENSP00000264245:S706A	ENSP00000264245:S706A	S	+	1	0	ARHGAP31	120615582	0.000000	0.05858	0.015000	0.15790	0.019000	0.09904	0.150000	0.16263	0.616000	0.30141	0.533000	0.62120	TCC		0.602	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			49	149	0	0	0	1	0	49	149				
MARK2	2011	broad.mit.edu	37	11	63672397	63672397	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr11:63672397C>T	ENST00000509502.2	+	16	2177	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	MARK2_ENST00000425897.2_Missense_Mutation_p.R526W|MARK2_ENST00000315032.8_Missense_Mutation_p.R606W|MARK2_ENST00000377810.3_Missense_Mutation_p.R518W|MARK2_ENST00000402010.2_Missense_Mutation_p.R606W|MARK2_ENST00000408948.3_Missense_Mutation_p.R518W|MARK2_ENST00000377809.4_Missense_Mutation_p.R606W|MARK2_ENST00000350490.7_Missense_Mutation_p.R551W|MARK2_ENST00000361128.5_Missense_Mutation_p.R552W|MARK2_ENST00000513765.2_Missense_Mutation_p.R573W|MARK2_ENST00000508192.1_Missense_Mutation_p.R551W|MARK2_ENST00000413835.2_Missense_Mutation_p.R552W|MARK2_ENST00000502399.3_Missense_Mutation_p.R605W	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCGACAGGTGCGGGACCAGCA	0.647																																						ENST00000402010.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1816-1818)Cgg>Tgg		MAP/microtubule affinity-regulating kinase 2							64.0	64.0	64.0					11																	63672397		2201	4297	6498	SO:0001583	missense	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63672397C>T	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1714C>T	11.37:g.63672397C>T	ENSP00000423974:p.Arg572Trp					MARK2_ENST00000425897.2_Missense_Mutation_p.R526W|MARK2_ENST00000513765.2_Missense_Mutation_p.R573W|MARK2_ENST00000509502.2_Missense_Mutation_p.R572W|MARK2_ENST00000408948.3_Missense_Mutation_p.R518W|MARK2_ENST00000377809.4_Missense_Mutation_p.R606W|MARK2_ENST00000508192.1_Missense_Mutation_p.R551W|MARK2_ENST00000413835.2_Missense_Mutation_p.R552W|MARK2_ENST00000350490.7_Missense_Mutation_p.R551W|MARK2_ENST00000315032.8_Missense_Mutation_p.R606W|MARK2_ENST00000377810.3_Missense_Mutation_p.R518W|MARK2_ENST00000361128.5_Missense_Mutation_p.R552W|MARK2_ENST00000502399.3_Missense_Mutation_p.R605W	p.R606W	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN			16	2395	+			606						Missense_Mutation	SNP	ENST00000509502.2	37	c.1816C>T	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	c	13.98	2.398498	0.42512	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	4.73	1.73	0.24493	.	0.000000	0.64402	D	0.000001	T	0.62368	0.2422	M	0.70842	2.15	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.999	D;D;D;D;P;P	0.72625	0.959;0.954;0.978;0.942;0.902;0.866	T	0.62048	-0.6936	10	0.87932	D	0	.	9.2432	0.37509	0.0:0.647:0.275:0.078	.	526;572;551;552;606;551	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	W	606;606;606;552;518;551;552;551;607;572;573;518;526	ENSP00000385751:R606W;ENSP00000326632:R606W;ENSP00000367040:R606W;ENSP00000389184:R552W;ENSP00000367041:R518W;ENSP00000425765:R551W;ENSP00000355091:R552W;ENSP00000294247:R551W;ENSP00000423974:R572W;ENSP00000421075:R573W;ENSP00000386128:R518W;ENSP00000415494:R526W	ENSP00000326632:R606W	R	+	1	2	MARK2	63428973	0.998000	0.40836	0.998000	0.56505	0.073000	0.16967	3.717000	0.54911	0.284000	0.22305	-0.267000	0.10333	CGG		0.647	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		5	163	0	0	0	1	0	5	163				
ZNF707	286075	broad.mit.edu	37	8	144776021	144776021	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:144776021C>T	ENST00000532205.1	+	8	1336	c.437C>T	c.(436-438)aCg>aTg	p.T146M	ZNF707_ENST00000532158.1_Missense_Mutation_p.T146M|ZNF707_ENST00000454097.1_Missense_Mutation_p.T146M|ZNF707_ENST00000418203.2_Missense_Mutation_p.T146M|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000358656.4_Missense_Mutation_p.T146M			Q96C28	ZN707_HUMAN	zinc finger protein 707	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCAAGCCCACGGCTTTCCCG	0.647																																						ENST00000532205.1																			0				breast(1)	1						c.(436-438)aCg>aTg		zinc finger protein 707							34.0	39.0	38.0					8																	144776021		2026	4174	6200	SO:0001583	missense	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776021C>T	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.437C>T	8.37:g.144776021C>T	ENSP00000436212:p.Thr146Met					ZNF707_ENST00000454097.1_Missense_Mutation_p.T146M|ZNF707_ENST00000532158.1_Missense_Mutation_p.T146M|ZNF707_ENST00000358656.4_Missense_Mutation_p.T146M|ZNF707_ENST00000418203.2_Missense_Mutation_p.T146M	p.T146M			Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		8	1336	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		146					A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	ENST00000532205.1	37	c.437C>T	CCDS47932.1	.	.	.	.	.	.	.	.	.	.	C	7.504	0.653217	0.14580	.	.	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000526315;ENST00000532205;ENST00000418203	T;T;T;T;T;T	0.23552	3.53;3.53;3.53;1.9;3.53;3.53	1.69	-1.81	0.07882	.	.	.	.	.	T	0.11879	0.0289	L	0.29908	0.895	0.09310	N	1	P;B	0.48294	0.908;0.124	B;B	0.36534	0.227;0.005	T	0.14615	-1.0466	8	.	.	.	.	2.0355	0.03538	0.2733:0.3395:0.0:0.3872	.	71;146	B4DV46;Q96C28	.;ZN707_HUMAN	M	146;146;146;110;146;146	ENSP00000409029:T146M;ENSP00000351482:T146M;ENSP00000436250:T146M;ENSP00000435906:T110M;ENSP00000436212:T146M;ENSP00000413215:T146M	.	T	+	2	0	ZNF707	144848009	0.031000	0.19500	0.000000	0.03702	0.001000	0.01503	2.420000	0.44679	-0.598000	0.05806	-0.351000	0.07748	ACG		0.647	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		7	85	0	0	0	1	0	7	85				
GLI3	2737	broad.mit.edu	37	7	42007295	42007295	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr7:42007295T>C	ENST00000395925.3	-	14	2414	c.2330A>G	c.(2329-2331)cAc>cGc	p.H777R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	777					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TAGTTTTACGTGCTCCATCCA	0.498									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(2329-2331)cAc>cGc		GLI family zinc finger 3							252.0	239.0	244.0					7																	42007295		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42007295T>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2330A>G	7.37:g.42007295T>C	ENSP00000379258:p.His777Arg					GLI3_ENST00000479210.1_5'UTR	p.H777R	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			14	2414	-			777					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.2330A>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127119	0.56721	.	.	ENSG00000106571	ENST00000395925	T	0.13089	2.62	5.58	5.58	0.84498	.	0.140097	0.64402	D	0.000003	T	0.16471	0.0396	L	0.52364	1.645	0.80722	D	1	B	0.33549	0.417	B	0.32677	0.15	T	0.01488	-1.1342	10	0.62326	D	0.03	.	15.756	0.78025	0.0:0.0:0.0:1.0	.	777	P10071	GLI3_HUMAN	R	777	ENSP00000379258:H777R	ENSP00000379258:H777R	H	-	2	0	GLI3	41973820	1.000000	0.71417	0.915000	0.36163	0.964000	0.63967	7.698000	0.84413	2.131000	0.65755	0.533000	0.62120	CAC		0.498	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		85	247	0	0	0	1	0	85	247				
IDS	3423	broad.mit.edu	37	X	148568542	148568542	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:148568542C>T	ENST00000340855.6	-	8	1303	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	IDS_ENST00000541269.1_Missense_Mutation_p.G154E|IDS_ENST00000490775.1_5'Flank|IDS_ENST00000537071.1_Intron|IDS_ENST00000422081.2_Missense_Mutation_p.G154E	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	365					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGCCGTCCTTCCAGGAACATA	0.473																																						ENST00000340855.6																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20						c.(1093-1095)gGa>gAa		iduronate 2-sulfatase							88.0	78.0	81.0					X																	148568542		2203	4300	6503	SO:0001583	missense	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148568542C>T	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1094G>A	X.37:g.148568542C>T	ENSP00000339801:p.Gly365Glu					AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000537071.1_Intron|IDS_ENST00000541269.1_Missense_Mutation_p.G154E	p.G365E	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN			8	1303	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		365					D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	c.1094G>A	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	c	19.20	3.782245	0.70222	.	.	ENSG00000010404	ENST00000340855;ENST00000541269	D;D	0.99925	-8.03;-8.03	5.27	5.27	0.74061	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.175852	0.50627	D	0.000119	D	0.99851	0.9931	M	0.79614	2.46	0.80722	D	1	P;P	0.42871	0.74;0.792	P;P	0.46419	0.457;0.516	D	0.96589	0.9436	10	0.48119	T	0.1	.	18.3345	0.90283	0.0:1.0:0.0:0.0	.	275;365	B4DGD7;P22304	.;IDS_HUMAN	E	365;154	ENSP00000339801:G365E;ENSP00000441261:G154E	ENSP00000339801:G365E	G	-	2	0	IDS	148376447	0.952000	0.32445	0.685000	0.30070	0.423000	0.31445	3.689000	0.54706	2.356000	0.79943	0.525000	0.51046	GGA		0.473	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			4	69	0	0	0	1	0	4	69				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		7	64	1	0	2.0095e-06	1	2.08533e-06	7	64				
NPR2	4882	broad.mit.edu	37	9	35811217	35811217	+	IGR	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr9:35811217G>A	ENST00000342694.2	+	0	3686				AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000484764.1_Missense_Mutation_p.P274S|HINT2_ENST00000474908.1_5'Flank|SPAG8_ENST00000396638.2_Missense_Mutation_p.P276S|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000340291.2_Missense_Mutation_p.P276S	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGGCCCCGCGGCAAAGTTTCA	0.507																																						ENST00000340291.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(826-828)Ccg>Tcg		sperm associated antigen 8							96.0	111.0	106.0					9																	35811217		2203	4300	6503	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35811217G>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811217G>A						SPAG8_ENST00000396638.2_Missense_Mutation_p.P276S|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Missense_Mutation_p.P274S	p.P276S	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	950	-	all_epithelial(49;0.161)		276					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Missense_Mutation	SNP	ENST00000342694.2	37	c.826C>T	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056951	0.55325	.	.	ENSG00000137098	ENST00000340291;ENST00000484764;ENST00000396638	T;T;T	0.60040	0.22;0.4;0.37	5.65	3.83	0.44106	.	0.164918	0.39909	N	0.001223	T	0.48960	0.1529	L	0.35414	1.06	0.32258	N	0.57048	P;P	0.52316	0.952;0.952	P;P	0.47673	0.554;0.554	T	0.59053	-0.7526	10	0.48119	T	0.1	-7.0172	8.0597	0.30625	0.1769:0.0:0.8231:0.0	.	276;276	E9PDV6;Q99932-2	.;.	S	276;274;276	ENSP00000340982:P276S;ENSP00000418072:P274S;ENSP00000379878:P276S	ENSP00000340982:P276S	P	-	1	0	SPAG8	35801217	0.920000	0.31207	0.829000	0.32907	0.510000	0.34073	1.737000	0.38197	0.950000	0.37743	0.655000	0.94253	CCG		0.507	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			6	363	0	0	0	1	0	6	363				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	21	0	0	0	1	0	4	21				
F2RL1	2150	broad.mit.edu	37	5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	rs149001132		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	365					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.R365H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448																																						ENST00000296677.4																			1	Substitution - Missense(1)	p.R365H(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13						c.(1093-1095)cGc>cAc		coagulation factor II (thrombin) receptor-like 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	221.0	222.0	222.0		1094	4.4	0.6	5	dbSNP_134	222	0,8600		0,0,4300	no	missense	F2RL1	NM_005242.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	365/398	76129526	1,13005	2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129526G>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.1094G>A	5.37:g.76129526G>A	ENSP00000296677:p.Arg365His						p.R365H	NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1300	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	365					Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.1094G>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192238	0.58017	2.27E-4	0.0	ENSG00000164251	ENST00000296677	T	0.40225	1.04	5.3	4.43	0.53597	.	0.111618	0.64402	D	0.000013	T	0.62405	0.2425	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.63726	-0.6572	9	.	.	.	-18.6704	13.8882	0.63721	0.0735:0.0:0.9265:0.0	.	365	P55085	PAR2_HUMAN	H	365	ENSP00000296677:R365H	.	R	+	2	0	F2RL1	76165282	1.000000	0.71417	0.640000	0.29408	0.271000	0.26615	9.808000	0.99193	1.236000	0.43740	-0.136000	0.14681	CGC		0.448	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			5	306	0	0	0	1	0	5	306				
BZRAP1	9256	broad.mit.edu	37	17	56393488	56393488	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:56393488T>C	ENST00000343736.4	-	16	2157	c.1994A>G	c.(1993-1995)aAc>aGc	p.N665S	BZRAP1_ENST00000355701.3_Missense_Mutation_p.N665S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.N605S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	665	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCAAAGGGGTTGTAGCTGTT	0.522																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1993-1995)aAc>aGc		benzodiazapine receptor (peripheral) associated protein 1							115.0	108.0	110.0					17																	56393488		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56393488T>C	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1994A>G	17.37:g.56393488T>C	ENSP00000345824:p.Asn665Ser					BZRAP1_ENST00000268893.6_Missense_Mutation_p.N605S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.N665S	p.N665S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			16	2864	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		665			SH3 1.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.1994A>G	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.911624	0.92178	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.29142	1.58;1.58;1.58	5.63	5.63	0.86233	Src homology-3 domain (3);	0.047215	0.85682	D	0.000000	T	0.58481	0.2125	M	0.80746	2.51	0.51767	D	0.999935	D;D;D	0.76494	0.989;0.999;0.999	D;D;D	0.85130	0.951;0.978;0.997	T	0.63664	-0.6586	10	0.66056	D	0.02	.	15.0021	0.71483	0.0:0.0:0.0:1.0	.	665;605;665	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	S	665;665;605	ENSP00000347929:N665S;ENSP00000345824:N665S;ENSP00000268893:N605S	ENSP00000268893:N605S	N	-	2	0	BZRAP1	53748487	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.032000	0.88838	2.131000	0.65755	0.533000	0.62120	AAC		0.522	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		6	71	0	0	0	1	0	6	71				
NLGN3	54413	broad.mit.edu	37	X	70367670	70367670	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:70367670T>A	ENST00000358741.3	+	2	374	c.71T>A	c.(70-72)cTc>cAc	p.L24H	NLGN3_ENST00000536169.1_Missense_Mutation_p.L24H|NLGN3_ENST00000374051.3_Missense_Mutation_p.L24H	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	24					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					AGCCTGTGCCTCACCCTGTGG	0.662																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(70-72)cTc>cAc		neuroligin 3							29.0	26.0	27.0					X																	70367670		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70367670T>A	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.71T>A	X.37:g.70367670T>A	ENSP00000351591:p.Leu24His					NLGN3_ENST00000536169.1_Missense_Mutation_p.L24H|NLGN3_ENST00000358741.3_Missense_Mutation_p.L24H	p.L24H	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			2	393	+	Renal(35;0.156)		24					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.71T>A	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.285473	0.59867	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	4.78	4.78	0.61160	.	1.140110	0.06500	N	0.736087	T	0.77061	0.4075	L	0.29908	0.895	0.30736	N	0.746746	P;D;P	0.58970	0.925;0.984;0.909	P;P;P	0.62014	0.897;0.813;0.834	T	0.69269	-0.5189	10	0.59425	D	0.04	.	13.5839	0.61919	0.0:0.0:0.0:1.0	.	24;24;24	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	H	24	ENSP00000445298:L24H;ENSP00000363163:L24H;ENSP00000379196:L24H;ENSP00000351591:L24H	ENSP00000351591:L24H	L	+	2	0	NLGN3	70284395	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.614000	0.54160	1.780000	0.52325	0.430000	0.28490	CTC		0.662	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		15	18	0	0	0	1	0	15	18				
NRK	203447	broad.mit.edu	37	X	105178375	105178375	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:105178375T>A	ENST00000243300.9	+	20	3741	c.3438T>A	c.(3436-3438)aaT>aaA	p.N1146K	NRK_ENST00000428173.2_Missense_Mutation_p.N1147K	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1146					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTCTGCCAATCACTCATCTC	0.433										HNSCC(51;0.14)																												ENST00000428173.2																			0				breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						c.(3439-3441)aaT>aaA		Nik related kinase							164.0	152.0	156.0					X																	105178375		1980	4150	6130	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105178375T>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3438T>A	X.37:g.105178375T>A	ENSP00000434830:p.Asn1146Lys	HNSCC(51;0.14)				NRK_ENST00000243300.9_Missense_Mutation_p.N1146K	p.N1147K			Q7Z2Y5	NRK_HUMAN			20	3744	+			1146					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.3441T>A		.	.	.	.	.	.	.	.	.	.	T	4.854	0.158725	0.09236	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.75938	-0.97;-0.98	5.08	0.0465	0.14256	.	1.341710	0.04667	N	0.409948	T	0.56262	0.1973	N	0.19112	0.55	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.16289	0.015;0.004	T	0.31110	-0.9955	10	0.23302	T	0.38	.	3.3825	0.07260	0.1927:0.3615:0.0:0.4458	.	814;1146	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	K	1146;1147	ENSP00000434830:N1146K;ENSP00000438378:N1147K	ENSP00000434830:N1146K	N	+	3	2	NRK	105065031	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.044000	0.12023	-0.043000	0.13513	-0.287000	0.09952	AAT		0.433	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		44	61	0	0	0	1	0	44	61				
MAGEA12	4111	broad.mit.edu	37	X	151900225	151900225	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:151900225G>T	ENST00000357916.4	-	2	731	c.576C>A	c.(574-576)gaC>gaA	p.D192E	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Missense_Mutation_p.D192E|MAGEA12_ENST00000393869.3_Missense_Mutation_p.D192E	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	192	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CGATCTGATTGTCGCCCAGCA	0.577																																						ENST00000393900.3																			0				breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(574-576)gaC>gaA		melanoma antigen family A, 12							148.0	141.0	143.0					X																	151900225		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900225G>T		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.576C>A	X.37:g.151900225G>T	ENSP00000350592:p.Asp192Glu					MAGEA12_ENST00000357916.4_Missense_Mutation_p.D192E|MAGEA12_ENST00000393869.3_Missense_Mutation_p.D192E|CSAG4_ENST00000361201.4_RNA	p.D192E	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN			3	929	-	Acute lymphoblastic leukemia(192;6.56e-05)		192			MAGE.		Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.576C>A	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	G	3.439	-0.114379	0.06881	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.04156	3.69;3.69;3.69	0.809	-1.62	0.08372	.	0.673506	0.15304	N	0.269486	T	0.04137	0.0115	L	0.51853	1.615	0.09310	N	1	B	0.18461	0.028	B	0.24269	0.052	T	0.43491	-0.9388	9	0.40728	T	0.16	.	.	.	.	.	192	P43365	MAGAC_HUMAN	E	192	ENSP00000350592:D192E;ENSP00000377447:D192E;ENSP00000377478:D192E	ENSP00000350592:D192E	D	-	3	2	MAGEA12	151650881	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.482000	0.06544	-1.829000	0.01201	-1.274000	0.01402	GAC		0.577	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		15	225	1	0	1.37285e-15	1	1.51014e-15	15	225				
FRG1B	284802	broad.mit.edu	37	20	29628290	29628290	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr20:29628290G>A	ENST00000278882.3	+	6	672	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	FRG1B_ENST00000358464.4_Missense_Mutation_p.E98K|FRG1B_ENST00000439954.2_Missense_Mutation_p.E103K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	98										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGGGGACATAGAAGCAAAAAG	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(292-294)Gaa>Aaa																																						SO:0001583	missense	0							g.chr20:29628290G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.292G>A	20.37:g.29628290G>A	ENSP00000278882:p.Glu98Lys					FRG1B_ENST00000439954.2_Missense_Mutation_p.E103K|FRG1B_ENST00000358464.4_Missense_Mutation_p.E98K	p.E98K							6	672	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.292G>A		.	.	.	.	.	.	.	.	.	.	g	12.15	1.852294	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42513	0.97	2.08	2.08	0.27032	Actin cross-linking (1);	0.183148	0.47455	D	0.000231	T	0.23289	0.0563	.	.	.	0.24823	N	0.992578	B;B	0.20261	0.011;0.043	B;B	0.24155	0.024;0.051	T	0.07462	-1.0771	9	0.25106	T	0.35	.	4.7007	0.12825	0.1861:0.0:0.8139:0.0	.	103;98	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	K	98;103;98	ENSP00000408863:E103K	ENSP00000278882:E98K	E	+	1	0	FRG1B	28241951	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.756000	0.74919	1.475000	0.48197	0.423000	0.28283	GAA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	95	0	0	0	1	0	4	95				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			35	32	0	0	0	1	0	35	32				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			6	57	0	0	0	1	0	6	57				
C16orf45	89927	broad.mit.edu	37	16	15661873	15661873	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:15661873G>A	ENST00000300006.4	+	3	623	c.264G>A	c.(262-264)atG>atA	p.M88I	C16orf45_ENST00000561692.1_Missense_Mutation_p.M40I|C16orf45_ENST00000452191.2_Missense_Mutation_p.M71I|C16orf45_ENST00000566490.1_Missense_Mutation_p.M88I	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	88										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						AGGACATCATGGACTTGAAGC	0.557																																						ENST00000300006.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						c.(262-264)atG>atA		chromosome 16 open reading frame 45							112.0	89.0	97.0					16																	15661873		2197	4300	6497	SO:0001583	missense	89927							g.chr16:15661873G>A	AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.264G>A	16.37:g.15661873G>A	ENSP00000300006:p.Met88Ile					C16orf45_ENST00000561692.1_Missense_Mutation_p.M40I|C16orf45_ENST00000452191.2_Missense_Mutation_p.M71I|C16orf45_ENST00000566490.1_Missense_Mutation_p.M88I	p.M88I	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN			3	623	+			88					O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	ENST00000300006.4	37	c.264G>A	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386398	0.61956	.	.	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.41758	0.99;0.99	5.1	5.1	0.69264	Domain of unknown function DUF3585 (1);	0.037124	0.85682	D	0.000000	T	0.54806	0.1881	L	0.60455	1.87	0.49483	D	0.999793	P;P	0.40180	0.705;0.481	P;B	0.55824	0.785;0.088	T	0.45293	-0.9271	10	0.20046	T	0.44	-11.5179	14.0257	0.64584	0.0:0.0:1.0:0.0	.	32;88	B4DE25;Q96MC5	.;CP045_HUMAN	I	88;71	ENSP00000300006:M88I;ENSP00000408976:M71I	ENSP00000300006:M88I	M	+	3	0	C16orf45	15569374	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.251000	0.72441	2.359000	0.80004	0.655000	0.94253	ATG		0.557	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201		15	18	0	0	0	1	0	15	18				
ZNF600	162966	broad.mit.edu	37	19	53269553	53269553	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr19:53269553C>T	ENST00000338230.3	-	3	1723	c.1456G>A	c.(1456-1458)Gca>Aca	p.A486T		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	486					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A486S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTATGTTTTGCCAGATAGGAA	0.428																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)	ENST00000338230.3																			1	Substitution - Missense(1)	p.A486S(1)	lung(1)	breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30						c.(1456-1458)Gca>Aca		zinc finger protein 600							149.0	149.0	149.0					19																	53269553		2203	4297	6500	SO:0001583	missense	162966				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53269553C>T	U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1456G>A	19.37:g.53269553C>T	ENSP00000344791:p.Ala486Thr						p.A486T	NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)	3	1723	-			486					Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	c.1456G>A	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	5.058	0.196292	0.09599	.	.	ENSG00000189190	ENST00000338230	T	0.16743	2.32	1.5	-0.943	0.10395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07458	0.0188	N	0.25647	0.755	0.09310	N	1	B	0.32653	0.379	B	0.24269	0.052	T	0.36065	-0.9763	9	0.07030	T	0.85	.	5.8781	0.18840	0.0:0.3345:0.0:0.6655	.	486	Q6ZNG1	ZN600_HUMAN	T	486	ENSP00000344791:A486T	ENSP00000344791:A486T	A	-	1	0	ZNF600	57961365	0.000000	0.05858	0.000000	0.03702	0.334000	0.28698	-1.198000	0.03035	-0.093000	0.12396	0.184000	0.17185	GCA		0.428	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1	NM_198457		4	182	0	0	0	1	0	4	182				
GABRA6	2559	broad.mit.edu	37	5	161119014	161119014	+	Silent	SNP	A	A	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:161119014A>T	ENST00000274545.5	+	8	1327	c.894A>T	c.(892-894)tcA>tcT	p.S298S	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Silent_p.S288S			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	298					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CAAAAGTGTCATATGCCACTG	0.408										TCGA Ovarian(5;0.080)																												ENST00000523217.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(862-864)tcA>tcT		gamma-aminobutyric acid (GABA) A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						152.0	132.0	139.0					5																	161119014		2203	4300	6503	SO:0001819	synonymous_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119014A>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.894A>T	5.37:g.161119014A>T		TCGA Ovarian(5;0.080)				GABRA6_ENST00000274545.5_Silent_p.S298S	p.S288S	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1106	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	298					A8K096|Q4VAV2	Silent	SNP	ENST00000274545.5	37	c.864A>T	CCDS4356.1																																																																																				0.408	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2			8	97	0	0	0	1	0	8	97				
ROBO2	6092	broad.mit.edu	37	3	77617553	77617553	+	Silent	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:77617553C>T	ENST00000461745.1	+	13	2839	c.1939C>T	c.(1939-1941)Ctg>Ttg	p.L647L	ROBO2_ENST00000332191.8_Silent_p.L647L|ROBO2_ENST00000487694.3_Silent_p.L663L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	647	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCAGTTGTGCTGACTCCCAC	0.468																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1939-1941)Ctg>Ttg		roundabout, axon guidance receptor, homolog 2 (Drosophila)							111.0	111.0	111.0					3																	77617553		2090	4217	6307	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77617553C>T	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1939C>T	3.37:g.77617553C>T						ROBO2_ENST00000487694.3_Silent_p.L663L|ROBO2_ENST00000332191.8_Silent_p.L647L	p.L647L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	13	2839	+			647			Fibronectin type-III 2.		O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.1939C>T	CCDS43109.1																																																																																				0.468	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		34	67	0	0	0	1	0	34	67				
GDAP1	54332	broad.mit.edu	37	8	75272416	75272416	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:75272416C>G	ENST00000220822.7	+	3	435	c.355C>G	c.(355-357)Cca>Gca	p.P119A	GDAP1_ENST00000434412.2_Missense_Mutation_p.P51A|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	119					cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CATGTATTACCCACGGGTACA	0.403																																						ENST00000220822.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(355-357)Cca>Gca		ganglioside induced differentiation associated protein 1							143.0	120.0	128.0					8																	75272416		2203	4300	6503	SO:0001583	missense	54332					cytoplasm		g.chr8:75272416C>G		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.355C>G	8.37:g.75272416C>G	ENSP00000220822:p.Pro119Ala					GDAP1_ENST00000434412.2_Missense_Mutation_p.P51A|GDAP1_ENST00000521096.1_3'UTR	p.P119A	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		3	435	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	119					A8K957|E7FJF3|E7FJF4	Missense_Mutation	SNP	ENST00000220822.7	37	c.355C>G	CCDS34911.1	.	.	.	.	.	.	.	.	.	.	C	9.528	1.110024	0.20714	.	.	ENSG00000104381	ENST00000220822;ENST00000434412	D;D	0.98876	-5.13;-5.2	5.54	5.54	0.83059	.	0.126422	0.56097	D	0.000035	D	0.94489	0.8226	N	0.08118	0	0.51012	D	0.999904	B	0.02656	0.0	B	0.06405	0.002	D	0.90820	0.4708	10	0.02654	T	1	-1.2233	19.6787	0.95950	0.0:1.0:0.0:0.0	.	119	Q8TB36	GDAP1_HUMAN	A	119;51	ENSP00000220822:P119A;ENSP00000417006:P51A	ENSP00000220822:P119A	P	+	1	0	GDAP1	75434971	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	2.672000	0.46850	2.890000	0.99128	0.650000	0.86243	CCA		0.403	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	NM_018972		53	32	0	0	0	1	0	53	32				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	55	0	0	0	1	0	5	55				
GPRIN3	285513	broad.mit.edu	37	4	90170303	90170303	+	Missense_Mutation	SNP	G	G	A	rs373668813		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr4:90170303G>A	ENST00000609438.1	-	2	1477	c.959C>T	c.(958-960)gCg>gTg	p.A320V	GPRIN3_ENST00000333209.4_Missense_Mutation_p.A320V	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	320								p.A320V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTGCACCTCCGCATCTTGCCA	0.537																																						ENST00000333209.3																			1	Substitution - Missense(1)	p.A320V(1)	endometrium(1)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(958-960)gCg>gTg		GPRIN family member 3		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	101.0	94.0	97.0		959	4.8	0.9	4		97	0,8600		0,0,4300	no	missense	GPRIN3	NM_198281.2	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	320/777	90170303	1,13005	2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170303G>A	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.959C>T	4.37:g.90170303G>A	ENSP00000476603:p.Ala320Val						p.A320V	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1477	-		Hepatocellular(203;0.114)	320					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.959C>T	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.005860	0.54254	2.27E-4	0.0	ENSG00000185477	ENST00000333209	T	0.17528	2.27	5.65	4.81	0.61882	.	0.000000	0.33854	N	0.004499	T	0.18593	0.0446	L	0.32530	0.975	0.37056	D	0.897818	D	0.65815	0.995	P	0.47603	0.551	T	0.08269	-1.0730	10	0.59425	D	0.04	-18.7362	13.1991	0.59756	0.073:0.0:0.927:0.0	.	320	Q6ZVF9	GRIN3_HUMAN	V	320	ENSP00000328672:A320V	ENSP00000328672:A320V	A	-	2	0	GPRIN3	90389326	1.000000	0.71417	0.915000	0.36163	0.003000	0.03518	3.295000	0.51794	1.628000	0.50416	-0.150000	0.13652	GCG		0.537	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		5	113	0	0	0	1	0	5	113				
PDLIM7	9260	broad.mit.edu	37	5	176918075	176918075	+	Silent	SNP	C	C	T	rs145886743		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:176918075C>T	ENST00000355841.2	-	6	537	c.471G>A	c.(469-471)ccG>ccA	p.P157P	PDLIM7_ENST00000355572.2_Silent_p.P157P|PDLIM7_ENST00000356618.4_Silent_p.P157P|PDLIM7_ENST00000359895.2_Silent_p.P123P|PDLIM7_ENST00000393551.1_Silent_p.P157P	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	157					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCGGCCGCGGCCGCCAGT	0.667																																						ENST00000355841.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10						c.(469-471)ccG>ccA		PDZ and LIM domain 7 (enigma)							14.0	19.0	17.0					5																	176918075		2199	4294	6493	SO:0001819	synonymous_variant	9260				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding	g.chr5:176918075C>T	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.471G>A	5.37:g.176918075C>T						PDLIM7_ENST00000359895.2_Silent_p.P123P|PDLIM7_ENST00000393551.1_Silent_p.P157P|PDLIM7_ENST00000356618.4_Silent_p.P157P|PDLIM7_ENST00000355572.2_Silent_p.P157P	p.P157P	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	537	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	157					Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Silent	SNP	ENST00000355841.2	37	c.471G>A	CCDS4422.1																																																																																				0.667	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451		9	16	0	0	0	1	0	9	16				
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs397516437|rs28934573		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:7577559G>T	ENST00000269305.4	-	7	911	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000420246.2_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y	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	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)	GCCCATGCAGGAACTGTTACA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920673	TP53	M	rs28934573	c.(721-723)tCc>tAc	Other conserved DNA damage response genes	tumor protein p53							139.0	108.0	118.0					17																	7577559		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577559G>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.722C>A	17.37:g.7577559G>T	ENSP00000269305:p.Ser241Tyr	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_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y	p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	854	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	241		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.722C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341685	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.52501	D	0.999952	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96551	0.9408	10	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241Y;ENSP00000352610:S241Y;ENSP00000269305:S241Y;ENSP00000398846:S241Y;ENSP00000391127:S241Y;ENSP00000391478:S241Y;ENSP00000425104:S109Y;ENSP00000423862:S148Y	ENSP00000269305:S241Y	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		31	43	1	0	6.00712e-18	1	6.88316e-18	31	43				
PNLIPRP1	5407	broad.mit.edu	37	10	118357417	118357417	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr10:118357417G>T	ENST00000528052.1	+	7	723	c.652G>T	c.(652-654)Gat>Tat	p.D218Y	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.D218Y|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.D218Y			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	218					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TGACTTTGTTGATGTGATTCA	0.483																																						ENST00000528052.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(652-654)Gat>Tat		pancreatic lipase-related protein 1							182.0	160.0	168.0					10																	118357417		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118357417G>T	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.652G>T	10.37:g.118357417G>T	ENSP00000433933:p.Asp218Tyr					PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.D218Y|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.D218Y	p.D218Y			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	7	723	+			218					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.652G>T	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.476372	0.84640	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000530319;ENST00000527980;ENST00000534537	D;D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6;-3.6	5.17	5.17	0.71159	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98748	0.9579	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99453	1.0941	10	0.87932	D	0	-19.1376	17.7959	0.88570	0.0:0.0:1.0:0.0	.	218	P54315	LIPR1_HUMAN	Y	218;218;173;145;218	ENSP00000351695:D218Y;ENSP00000433933:D218Y;ENSP00000437263:D173Y;ENSP00000433785:D145Y;ENSP00000434159:D218Y	ENSP00000351695:D218Y	D	+	1	0	PNLIPRP1	118347407	1.000000	0.71417	0.965000	0.40720	0.975000	0.68041	8.435000	0.90297	2.560000	0.86352	0.561000	0.74099	GAT		0.483	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		24	64	1	0	1.64293e-13	1	1.73772e-13	24	64				
TTR	7276	broad.mit.edu	37	18	29172888	29172888	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr18:29172888G>A	ENST00000237014.3	+	2	276	c.99G>A	c.(97-99)atG>atA	p.M33I		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	33			M -> I. {ECO:0000269|PubMed:17503405}.		extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GTCCTCTGATGGTCAAAGTTC	0.483																																						ENST00000237014.3																			0				cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13						c.(97-99)atG>atA		transthyretin	Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)						140.0	117.0	125.0					18																	29172888		2203	4300	6503	SO:0001583	missense	7276				transport	cytoplasm	hormone activity	g.chr18:29172888G>A	M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"""prealbumin, amyloidosis type I"", ""carpal tunnel syndrome 1"""	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	ENST00000237014.3:c.99G>A	18.37:g.29172888G>A	ENSP00000237014:p.Met33Ile						p.M33I	NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00523)		2	276	+			33		M -> I.			Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Missense_Mutation	SNP	ENST00000237014.3	37	c.99G>A	CCDS11899.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754784	0.89843	.	.	ENSG00000118271	ENST00000237014;ENST00000432547;ENST00000541025	D	0.95377	-3.69	5.71	5.71	0.89125	Transthyretin/hydroxyisourate hydrolase, superfamily (4);	0.038235	0.85682	D	0.000000	D	0.96864	0.8976	M	0.87547	2.89	0.58432	D	0.999993	P	0.46987	0.888	P	0.47573	0.55	D	0.96981	0.9715	10	0.59425	D	0.04	-34.5419	19.8195	0.96586	0.0:0.0:1.0:0.0	.	33	P02766	TTHY_HUMAN	I	33	ENSP00000237014:M33I	ENSP00000237014:M33I	M	+	3	0	TTR	27426886	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.634000	0.54302	2.861000	0.98227	0.650000	0.86243	ATG		0.483	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254948.1	NM_000371		7	73	0	0	0	1	0	7	73				
ZNF99	7652	broad.mit.edu	37	19	22939882	22939882	+	IGR	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr19:22939882G>A	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.L817F	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTCTTAAGGGTTGAGGAA	0.383																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2449-2451)Ctt>Ttt		zinc finger protein 99							92.0	105.0	101.0					19																	22939882		2089	4246	6335	SO:0001628	intergenic_variant	7652							g.chr19:22939882G>A	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939882G>A							p.L817F							6	2448	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2449C>T	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	9.787	1.176929	0.21787	.	.	ENSG00000213973	ENST00000397104	T	0.52057	0.68	1.37	0.175	0.15045	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59280	0.2182	M	0.71920	2.185	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.46569	-0.9182	9	0.54805	T	0.06	.	2.9166	0.05755	0.1823:0.0:0.5557:0.262	.	817	A8MXY4	ZNF99_HUMAN	F	817	ENSP00000380293:L817F	ENSP00000380293:L817F	L	-	1	0	ZNF99	22731722	0.392000	0.25229	0.000000	0.03702	0.156000	0.22039	1.836000	0.39191	-0.091000	0.12440	0.173000	0.16961	CTT		0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		4	80	0	0	0	1	0	4	80				
TDP1	55775	broad.mit.edu	37	14	90455299	90455299	+	Silent	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr14:90455299C>T	ENST00000335725.4	+	11	1432	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	TDP1_ENST00000393452.3_Silent_p.V394V|TDP1_ENST00000393454.2_Silent_p.V394V|TDP1_ENST00000555880.1_Silent_p.V394V|TDP1_ENST00000357382.3_Silent_p.V155V	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	394					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CCTGGCCTGTCGTAGGTCAGT	0.448								Repair of DNA-protein crosslinks																														ENST00000335725.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25						c.(1180-1182)gtC>gtT	Repair of DNA-protein crosslinks	tyrosyl-DNA phosphodiesterase 1							107.0	105.0	105.0					14																	90455299		2203	4300	6503	SO:0001819	synonymous_variant	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90455299C>T	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1182C>T	14.37:g.90455299C>T						TDP1_ENST00000555880.1_Silent_p.V394V|TDP1_ENST00000393454.2_Silent_p.V394V|TDP1_ENST00000357382.3_Silent_p.V155V|TDP1_ENST00000393452.3_Silent_p.V394V	p.V394V	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	11	1432	+		all_cancers(154;0.185)	394					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Silent	SNP	ENST00000335725.4	37	c.1182C>T	CCDS9888.1	.	.	.	.	.	.	.	.	.	.	C	5.730	0.319189	0.10845	.	.	ENSG00000042088	ENST00000556063	.	.	.	5.93	-11.9	0.00025	.	.	.	.	.	T	0.44561	0.1299	.	.	.	0.43683	D	0.996127	.	.	.	.	.	.	T	0.61058	-0.7139	4	.	.	.	-14.5223	8.1406	0.31080	0.1515:0.5388:0.1411:0.1686	.	.	.	.	C	35	.	.	R	+	1	0	TDP1	89525052	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-2.955000	0.00675	-3.729000	0.00114	-1.096000	0.02151	CGT		0.448	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		4	50	0	0	0	1	0	4	50				
TUBA3C	7278	broad.mit.edu	37	13	19752464	19752464	+	Silent	SNP	C	C	T	rs142499533		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr13:19752464C>T	ENST00000400113.3	-	3	401	c.297G>A	c.(295-297)gcG>gcA	p.A99A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	99					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AATTATTGGCCGCATCTTCCT	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		21131	0.0		0.0	False		,,,				2504	0.001					ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(295-297)gcG>gcA		tubulin, alpha 3c		C		1,4405	2.1+/-5.4	0,1,2202	202.0	170.0	181.0		297	-3.0	1.0	13	dbSNP_134	181	0,8600		0,0,4300	no	coding-synonymous	TUBA3C	NM_006001.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		99/451	19752464	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19752464C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.297G>A	13.37:g.19752464C>T							p.A99A	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	3	401	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	99					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000400113.3	37	c.297G>A	CCDS9284.1																																																																																				0.522	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		9	115	0	0	0	1	0	9	115				
GNB2	2783	broad.mit.edu	37	7	100276231	100276231	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr7:100276231C>A	ENST00000303210.4	+	9	1392	c.910C>A	c.(910-912)Cgt>Agt	p.R304S	GNB2_ENST00000419828.1_Missense_Mutation_p.R204S|GNB2_ENST00000424361.1_Missense_Mutation_p.R260S|GNB2_ENST00000393924.1_Missense_Mutation_p.R304S|GNB2_ENST00000393926.1_Missense_Mutation_p.R304S|GNB2_ENST00000436220.1_Missense_Mutation_p.R260S|GNB2_ENST00000427895.1_Missense_Mutation_p.R204S	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	304					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GAAGGGCGACCGTGCAGGTGA	0.632																																						ENST00000303210.4																			0				endometrium(1)|lung(3)|ovary(2)|prostate(1)	7						c.(910-912)Cgt>Agt		guanine nucleotide binding protein (G protein), beta polypeptide 2							54.0	54.0	54.0					7																	100276231		2203	4300	6503	SO:0001583	missense	2783				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity	g.chr7:100276231C>A	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.910C>A	7.37:g.100276231C>A	ENSP00000305260:p.Arg304Ser					GNB2_ENST00000419828.1_Missense_Mutation_p.R204S|GNB2_ENST00000436220.1_Missense_Mutation_p.R260S|GNB2_ENST00000393924.1_Missense_Mutation_p.R304S|GNB2_ENST00000393926.1_Missense_Mutation_p.R304S|GNB2_ENST00000427895.1_Missense_Mutation_p.R204S|GNB2_ENST00000424361.1_Missense_Mutation_p.R260S	p.R304S	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN			9	1392	+	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)	304					B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	37	c.910C>A	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	19.89	3.911577	0.72983	.	.	ENSG00000172354	ENST00000303210;ENST00000436220;ENST00000424361;ENST00000419828;ENST00000427895;ENST00000393926;ENST00000393924	T;T;T;T;T;T;T	0.80909	5.02;-1.43;-1.43;-1.43;-1.43;5.02;5.02	5.14	2.2	0.27929	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78799	0.4340	L	0.37630	1.12	0.58432	D	0.999992	D	0.54601	0.967	P	0.57620	0.824	T	0.77300	-0.2639	10	0.87932	D	0	-15.5799	6.6202	0.22798	0.4381:0.4779:0.0:0.084	.	304	P62879	GBB2_HUMAN	S	304;260;260;204;204;304;304	ENSP00000305260:R304S;ENSP00000401873:R260S;ENSP00000389391:R260S;ENSP00000390543:R204S;ENSP00000400286:R204S;ENSP00000377503:R304S;ENSP00000377501:R304S	ENSP00000305260:R304S	R	+	1	0	GNB2	100114167	0.747000	0.28283	0.997000	0.53966	0.991000	0.79684	1.141000	0.31528	0.752000	0.32923	0.555000	0.69702	CGT		0.632	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273		5	135	1	0	1	1	1	5	135				
PIK3C2B	5287	broad.mit.edu	37	1	204425080	204425080	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:204425080C>T	ENST00000367187.3	-	12	2403	c.1847G>A	c.(1846-1848)cGc>cAc	p.R616H	PIK3C2B_ENST00000496872.1_5'UTR|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R616H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	616					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTCATGCTTGCGGCTCCCGGG	0.612																																						ENST00000367187.3																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(1846-1848)cGc>cAc		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							73.0	69.0	70.0					1																	204425080		2203	4300	6503	SO:0001583	missense	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204425080C>T	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.1847G>A	1.37:g.204425080C>T	ENSP00000356155:p.Arg616His					PIK3C2B_ENST00000496872.1_5'UTR|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R616H	p.R616H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		12	2403	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		616					O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	c.1847G>A	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532191	0.27387	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.42513	0.97;0.97	5.28	0.427	0.16489	.	0.436137	0.24937	N	0.034410	T	0.34106	0.0886	M	0.64997	1.995	0.26155	N	0.980088	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.31336	-0.9947	10	0.15066	T	0.55	.	10.2513	0.43370	0.0:0.6668:0.0:0.3332	.	616;616	F5GWN5;O00750	.;P3C2B_HUMAN	H	616	ENSP00000356155:R616H;ENSP00000400561:R616H	ENSP00000356155:R616H	R	-	2	0	PIK3C2B	202691703	0.890000	0.30428	0.933000	0.37362	0.966000	0.64601	0.680000	0.25306	0.165000	0.19558	0.561000	0.74099	CGC		0.612	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		4	104	0	0	0	1	0	4	104				
ABCB10	23456	broad.mit.edu	37	1	229683292	229683292	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:229683292T>C	ENST00000344517.4	-	3	917	c.875A>G	c.(874-876)gAt>gGt	p.D292G	RNA5SP78_ENST00000364622.1_RNA	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	292	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CCTGAGCCCATCTGAGAGGTT	0.567																																						ENST00000344517.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31						c.(874-876)gAt>gGt		ATP-binding cassette, sub-family B (MDR/TAP), member 10							45.0	50.0	48.0					1																	229683292		2203	4300	6503	SO:0001583	missense	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229683292T>C	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.875A>G	1.37:g.229683292T>C	ENSP00000355637:p.Asp292Gly						p.D292G	NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN			3	917	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	292			ABC transmembrane type-1.		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	c.875A>G	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.980312	0.92982	.	.	ENSG00000135776	ENST00000344517	D	0.89617	-2.54	5.37	5.37	0.77165	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93507	0.7928	M	0.88031	2.925	0.80722	D	1	P	0.39696	0.683	P	0.49597	0.616	D	0.93806	0.7105	10	0.49607	T	0.09	-27.9092	15.6601	0.77178	0.0:0.0:0.0:1.0	.	292	Q9NRK6	ABCBA_HUMAN	G	292	ENSP00000355637:D292G	ENSP00000355637:D292G	D	-	2	0	ABCB10	227749915	1.000000	0.71417	0.416000	0.26546	0.985000	0.73830	7.674000	0.83992	2.161000	0.67846	0.459000	0.35465	GAT		0.567	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		27	58	0	0	0	1	0	27	58				
LRP6	4040	broad.mit.edu	37	12	12291381	12291381	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr12:12291381T>A	ENST00000261349.4	-	16	3561	c.3485A>T	c.(3484-3486)aAa>aTa	p.K1162I	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.K1162I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1162	Beta-propeller 4.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTGCTGCTGTTTATCAATCCA	0.423																																						ENST00000261349.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85						c.(3484-3486)aAa>aTa		low density lipoprotein receptor-related protein 6							233.0	210.0	217.0					12																	12291381		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12291381T>A	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.3485A>T	12.37:g.12291381T>A	ENSP00000261349:p.Lys1162Ile					BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.K1162I	p.K1162I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN			16	3561	-		Prostate(47;0.0865)	1162			Beta-propeller 4.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.3485A>T	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529806	0.64860	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.90955	-2.76;-2.76	5.74	4.58	0.56647	Six-bladed beta-propeller, TolB-like (1);	0.177469	0.36200	N	0.002725	D	0.86125	0.5858	L	0.50333	1.59	0.39672	D	0.970777	B;B	0.25390	0.09;0.125	B;B	0.32583	0.148;0.09	T	0.79955	-0.1585	10	0.20519	T	0.43	.	6.6507	0.22961	0.0:0.2536:0.0:0.7464	.	1162;1162	F5H7J9;O75581	.;LRP6_HUMAN	I	1162	ENSP00000261349:K1162I;ENSP00000442472:K1162I	ENSP00000261349:K1162I	K	-	2	0	LRP6	12182648	0.975000	0.34042	1.000000	0.80357	0.993000	0.82548	0.766000	0.26560	2.188000	0.69820	0.482000	0.46254	AAA		0.423	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			73	135	0	0	0	1	0	73	135				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		7	58	0	0	0	1	0	7	58				
RPS2	6187	broad.mit.edu	37	16	2014319	2014319	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:2014319G>C	ENST00000343262.4	-	3	281	c.225C>G	c.(223-225)atC>atG	p.I75M	RPS2_ENST00000530225.1_Missense_Mutation_p.I75M|SNHG9_ENST00000459373.1_lincRNA|SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000529806.1_Intron|SNORA64_ENST00000384674.1_RNA|RNF151_ENST00000321392.3_5'Flank|RNF151_ENST00000569210.2_5'Flank|RNF151_ENST00000569714.1_5'Flank|RPS2_ENST00000526522.1_Missense_Mutation_p.I75M	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	75					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)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|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)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CCAGGGACTTGATCTTCATGT	0.602																																						ENST00000343262.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(223-225)atC>atG		ribosomal protein S2							45.0	51.0	49.0					16																	2014319		2199	4298	6497	SO:0001583	missense	6187				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome	g.chr16:2014319G>C	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"""S ribosomal proteins"""	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.225C>G	16.37:g.2014319G>C	ENSP00000341885:p.Ile75Met					RPS2_ENST00000526522.1_Missense_Mutation_p.I75M|RPS2_ENST00000530225.1_Missense_Mutation_p.I75M|RPS2_ENST00000529806.1_Intron	p.I75M	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN			3	281	-			75					B2R5G0|D3DU82|Q3MIB1	Missense_Mutation	SNP	ENST00000343262.4	37	c.225C>G	CCDS10452.1	.	.	.	.	.	.	.	.	.	.	g	16.58	3.163956	0.57476	.	.	ENSG00000140988	ENST00000526522;ENST00000533186;ENST00000530225;ENST00000343262;ENST00000527302	.	.	.	4.75	2.78	0.32641	.	0.077361	0.51477	U	0.000097	T	0.75810	0.3900	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.83275	0.945;0.996	T	0.75682	-0.3233	9	0.72032	D	0.01	.	10.4391	0.44455	0.1605:0.0:0.8395:0.0	.	75;75	P15880;E9PQD7	RS2_HUMAN;.	M	75;13;75;75;75	.	ENSP00000341885:I75M	I	-	3	3	RPS2	1954320	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	5.906000	0.69900	0.432000	0.26286	-0.216000	0.12614	ATC		0.602	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952		26	55	0	0	0	1	0	26	55				
FYCO1	79443	broad.mit.edu	37	3	46009087	46009087	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:46009087C>T	ENST00000296137.2	-	8	1944	c.1739G>A	c.(1738-1740)aGt>aAt	p.S580N	FYCO1_ENST00000535325.1_Missense_Mutation_p.S580N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	580					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCTTGCAGACTGGAGTTCAC	0.632																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1738-1740)aGt>aAt		FYVE and coiled-coil domain containing 1							61.0	68.0	66.0					3																	46009087		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009087C>T	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1739G>A	3.37:g.46009087C>T	ENSP00000296137:p.Ser580Asn					FYCO1_ENST00000535325.1_Missense_Mutation_p.S580N	p.S580N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1944	-			580					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.1739G>A	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.306931	0.01353	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.20738	2.05;2.05	5.08	0.544	0.17185	.	1.355130	0.04414	N	0.366467	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.12837	0.008;0.008	T	0.28332	-1.0047	10	0.18710	T	0.47	1.6445	0.3708	0.00379	0.3487:0.1453:0.282:0.2241	.	580;580	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	N	580	ENSP00000296137:S580N;ENSP00000441178:S580N	ENSP00000296137:S580N	S	-	2	0	FYCO1	45984091	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.429000	0.21412	0.182000	0.20032	-0.147000	0.13772	AGT		0.632	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		6	165	0	0	0	1	0	6	165				
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T	rs368809647		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	86	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617																																						ENST00000394008.1																			0				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(301-303)ggC>ggT		keratin associated protein 9-9							78.0	83.0	81.0					17																	39411940		2203	4297	6500	SO:0001819	synonymous_variant	81870					keratin filament		g.chr17:39411940C>T	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.303C>T	17.37:g.39411940C>T							p.G101G	NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	305	+		Breast(137;0.000496)	101					B5MDD6|Q9BYQ1	Silent	SNP	ENST00000394008.1	37	c.303C>T	CCDS54127.1																																																																																				0.617	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257710.1	NM_030975		5	178	0	0	0	1	0	5	178				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	119	0	0	0	1	0	4	119				
HIPK1	204851	broad.mit.edu	37	1	114510515	114510515	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:114510515C>A	ENST00000369558.1	+	12	2741	c.2509C>A	c.(2509-2511)Caa>Aaa	p.Q837K	HIPK1_ENST00000426820.2_Missense_Mutation_p.Q837K|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q803K|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q837K|HIPK1_ENST00000406344.1_Missense_Mutation_p.Q443K|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q792K|HIPK1_ENST00000340480.4_Missense_Mutation_p.Q463K|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q792K|HIPK1_ENST00000369553.1_Missense_Mutation_p.Q443K			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	837					anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGACAACAACAATCCAGTTC	0.478																																						ENST00000369558.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39						c.(2509-2511)Caa>Aaa		homeodomain interacting protein kinase 1							175.0	142.0	153.0					1																	114510515		2203	4300	6503	SO:0001583	missense	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114510515C>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2509C>A	1.37:g.114510515C>A	ENSP00000358571:p.Gln837Lys					HIPK1_ENST00000340480.4_Missense_Mutation_p.Q463K|HIPK1_ENST00000369553.1_Missense_Mutation_p.Q443K|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q792K|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q837K|HIPK1_ENST00000406344.1_Missense_Mutation_p.Q443K|HIPK1_ENST00000426820.2_Missense_Mutation_p.Q837K|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q803K|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q792K	p.Q837K			Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	2741	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	837					A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Missense_Mutation	SNP	ENST00000369558.1	37	c.2509C>A	CCDS867.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.035053|4.035053	0.75617|0.75617	.|.	.|.	ENSG00000163349|ENSG00000163349	ENST00000426820;ENST00000369559;ENST00000443627;ENST00000369554;ENST00000369555;ENST00000369558;ENST00000369561;ENST00000340480;ENST00000369553;ENST00000406344|ENST00000361587	T;T;T;T;T;T;T;T;T;T|.	0.23552|.	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.086330|.	0.49305|.	D|.	0.000150|.	T|T	0.59891|0.59891	0.2227|0.2227	L|L	0.40543|0.40543	1.245|1.245	0.58432|0.58432	D|D	0.999992|0.999992	P;B;P;P|.	0.51933|.	0.732;0.059;0.915;0.949|.	B;B;B;P|.	0.50440|.	0.343;0.039;0.438;0.641|.	T|T	0.53208|0.53208	-0.8471|-0.8471	10|5	0.37606|.	T|.	0.19|.	.|.	20.2441|20.2441	0.98394|0.98394	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	129;443;837;837|.	E9PCF6;Q86Z02-4;Q86Z02;Q86Z02-2|.	.;.;HIPK1_HUMAN;.|.	K|K	908;837;837;792;792;837;803;463;443;443|117	ENSP00000407442:Q908K;ENSP00000358572:Q837K;ENSP00000409673:Q837K;ENSP00000358567:Q792K;ENSP00000358568:Q792K;ENSP00000358571:Q837K;ENSP00000358574:Q803K;ENSP00000340956:Q463K;ENSP00000358566:Q443K;ENSP00000384960:Q443K|.	ENSP00000340956:Q463K|.	Q|T	+|+	1|2	0|0	HIPK1|HIPK1	114312038|114312038	1.000000|1.000000	0.71417|0.71417	0.530000|0.530000	0.27963|0.27963	0.911000|0.911000	0.54048|0.54048	5.546000|5.546000	0.67243|0.67243	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	CAA|ACA		0.478	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1	NM_198268		18	56	1	0	4.63292e-17	1	5.20022e-17	18	56				
EMILIN2	84034	broad.mit.edu	37	18	2891077	2891077	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr18:2891077G>A	ENST00000254528.3	+	4	1111	c.952G>A	c.(952-954)Gtg>Atg	p.V318M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	318					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAAGCCTATGTGGACAGTAA	0.547																																						ENST00000254528.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48						c.(952-954)Gtg>Atg		elastin microfibril interfacer 2							101.0	105.0	104.0					18																	2891077		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2891077G>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.952G>A	18.37:g.2891077G>A	ENSP00000254528:p.Val318Met						p.V318M	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	1111	+			318					B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.952G>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.787212	0.49997	.	.	ENSG00000132205	ENST00000254528	T	0.42513	0.97	5.09	5.09	0.68999	.	0.108809	0.39341	N	0.001388	T	0.44477	0.1295	L	0.56769	1.78	0.34832	D	0.739761	P	0.50443	0.935	P	0.49047	0.599	T	0.60826	-0.7186	10	0.66056	D	0.02	-31.2643	6.9433	0.24504	0.2167:0.0:0.7833:0.0	.	318	Q9BXX0	EMIL2_HUMAN	M	318	ENSP00000254528:V318M	ENSP00000254528:V318M	V	+	1	0	EMILIN2	2881077	0.999000	0.42202	0.851000	0.33527	0.694000	0.40290	1.216000	0.32443	2.521000	0.84997	0.557000	0.71058	GTG		0.547	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		96	100	0	0	0	1	0	96	100				
MAPK8	5599	broad.mit.edu	37	10	49618135	49618135	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr10:49618135A>G	ENST00000374189.1	+	5	555	c.374A>G	c.(373-375)cAt>cGt	p.H125R	MAPK8_ENST00000374174.1_Missense_Mutation_p.H125R|MAPK8_ENST00000395611.3_Missense_Mutation_p.H125R|MAPK8_ENST00000360332.3_Missense_Mutation_p.H125R|MAPK8_ENST00000374182.3_Missense_Mutation_p.H125R			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nitric oxide (GO:0071732)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of gene expression (GO:0010628)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|programmed necrotic cell death (GO:0097300)|regulation of histone deacetylation (GO:0031063)|regulation of protein localization (GO:0032880)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to cadmium ion (GO:0046686)|response to stress (GO:0006950)|response to UV (GO:0009411)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|JUN kinase activity (GO:0004705)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GAGCTAGATCATGAAAGAATG	0.398																																						ENST00000374189.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34						c.(373-375)cAt>cGt		mitogen-activated protein kinase 8							196.0	176.0	183.0					10																	49618135		2203	4300	6503	SO:0001583	missense	5599				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	g.chr10:49618135A>G	L26318	CCDS7223.1, CCDS7224.1, CCDS7225.1, CCDS7226.1, CCDS60527.1	10q11	2011-06-09			ENSG00000107643	ENSG00000107643	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6881	protein-coding gene	gene with protein product	"""JUN N-terminal kinase"""	601158		PRKM8		8137421, 8654373	Standard	NM_002750		Approved	JNK, JNK1, SAPK1	uc001jgp.3	P45983	OTTHUMG00000018172	ENST00000374189.1:c.374A>G	10.37:g.49618135A>G	ENSP00000363304:p.His125Arg					MAPK8_ENST00000374182.3_Missense_Mutation_p.H125R|MAPK8_ENST00000360332.3_Missense_Mutation_p.H125R|MAPK8_ENST00000374174.1_Missense_Mutation_p.H125R|MAPK8_ENST00000395611.3_Missense_Mutation_p.H125R	p.H125R			P45983	MK08_HUMAN		Epithelial(53;3.46e-65)|Lung(62;0.125)	5	555	+		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)	125			Protein kinase.		B5BTZ5|B7ZLV4|D3DX88|D3DX92|Q15709|Q15712|Q15713|Q308M2	Missense_Mutation	SNP	ENST00000374189.1	37	c.374A>G	CCDS7224.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.502661	0.85176	.	.	ENSG00000107643	ENST00000432379;ENST00000429041;ENST00000374189;ENST00000426557;ENST00000374182;ENST00000374179;ENST00000360332;ENST00000374176;ENST00000374174;ENST00000395611	D;D;D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.4	5.4	0.78164	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86802	0.6020	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.88364	0.2990	10	0.72032	D	0.01	.	15.7272	0.77770	1.0:0.0:0.0:0.0	.	125;125;125;125;125	Q308M2;P45983-2;P45983;A1L4K2;P45983-3	.;.;MK08_HUMAN;.;.	R	125;42;125;125;125;125;125;125;125;125	ENSP00000387936:H125R;ENSP00000393223:H42R;ENSP00000363304:H125R;ENSP00000397729:H125R;ENSP00000363297:H125R;ENSP00000363294:H125R;ENSP00000353483:H125R;ENSP00000363291:H125R;ENSP00000363289:H125R;ENSP00000378974:H125R	ENSP00000353483:H125R	H	+	2	0	MAPK8	49288141	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.287000	0.95975	2.176000	0.68965	0.528000	0.53228	CAT		0.398	MAPK8-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047931.1			17	137	0	0	0	1	0	17	137				
MAML2	84441	broad.mit.edu	37	11	95724824	95724824	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr11:95724824G>C	ENST00000524717.1	-	3	3487	c.2203C>G	c.(2203-2205)Cca>Gca	p.P735A		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	735					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCAGTGTTTGGATTTGAGCAG	0.478			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	ENST00000524717.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	"""MECT1, CRTC3"""		salivary gland mucoepidermoid	CRTC3/MAML2(26)|CRTC1/MAML2(516)	0				breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2203-2205)Cca>Gca		mastermind-like 2 (Drosophila)							120.0	114.0	116.0					11																	95724824		1896	4108	6004	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95724824G>C	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2203C>G	11.37:g.95724824G>C	ENSP00000434552:p.Pro735Ala						p.P735A	NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN			3	3487	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	735					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2203C>G	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419505	0.42918	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.46819	0.86;0.86	5.14	4.2	0.49525	.	0.000000	0.64402	D	0.000009	T	0.44371	0.1290	L	0.55481	1.735	0.42205	D	0.991786	B	0.13145	0.007	B	0.12837	0.008	T	0.33137	-0.9880	10	0.30078	T	0.28	-9.1995	15.4331	0.75121	0.0:0.1395:0.8605:0.0	.	735	Q8IZL2	MAML2_HUMAN	A	735	ENSP00000434552:P735A;ENSP00000412394:P735A	ENSP00000412394:P735A	P	-	1	0	MAML2	95364472	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.696000	0.54757	1.133000	0.42147	0.557000	0.71058	CCA		0.478	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			5	96	0	0	0	1	0	5	96				
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	lincRNA	DEL	AT	AT	-			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262																																						ENST00000428624.1																			0																																																			0							g.chr1:143391923_143391924delAT																													1.37:g.143391933_143391934delAT						RP11-435B5.4_ENST00000423249.1_lincRNA								0	2065	+									RNA	DEL	ENST00000428624.1	37																																																																																						0.262	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037971.1			3	3						3	3	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100345610	100345611	+	RNA	INS	-	-	A	rs3884114		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr7:100345610_100345611insA	ENST00000348028.3	+	0	1188				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			gcaagactctgaaaaaaaaaaa	0.505																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345610_100345611insA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345621_100345621dupA						ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1171	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.505	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G	rs375659563		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e36-1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1																																				SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455173_110455174insG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4394-1->G	8.37:g.110455175_110455175dupG		HNSCC(38;0.096)						NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4497	+								Q567P2|Q9UF27	Splice_Site	INS	ENST00000378402.5	37		CCDS47911.1																																																																																				0.322	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	9	122						9	122	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579592	7579592	+	Splice_Site	DEL	T	T	-			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:7579592delT	ENST00000269305.4	-	4	286		c.e4-2		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	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						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.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)	CAAGGGGGACTGTAGATGGGT	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		25	Unknown(15)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)	lung(8)|liver(4)|bone(4)|central_nervous_system(3)|upper_aerodigestive_tract(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.e4-2	Other conserved DNA damage response genes	tumor protein p53							139.0	135.0	137.0					17																	7579592		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579592delT	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.97-2A>-	17.37:g.7579592delT		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	229	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	DEL	ENST00000269305.4	37		CCDS11118.1																																																																																				0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	170	212						170	212	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	lincRNA	DEL	T	T	-	rs200816848		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313																																						ENST00000586209.1																			0																																																			0							g.chr17:58066608delT																													17.37:g.58066608delT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.313	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			3	5						3	5	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76944338	76944339	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:76944338_76944339delGT	ENST00000373344.5	-	7	780_781	c.566_567delAC	c.(565-567)cacfs	p.H189fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.H151fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	189	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.		Missing (in ATRX). {ECO:0000269|PubMed:10204841}.		ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GCAATGAAGGGTGTCTATAAAT	0.391			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(565-567)cfs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76944338_76944339delGT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.566_567delAC	X.37:g.76944340_76944341delGT	ENSP00000362441:p.His189fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.H151fs|ATRX_ENST00000480283.1_5'UTR	p.H189fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			7	780_781	-			189		Missing (in ATRX).	ADD.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.566_567delAC	CCDS14434.1																																																																																				0.391	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		31	90						31	90	---	---	---	---
