#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
WBSCR22	114049	broad.mit.edu	37	7	73112192	73112192	+	Silent	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:73112192C>G	ENST00000265758.2	+	12	880	c.822C>G	c.(820-822)ggC>ggG	p.G274G	WBSCR22_ENST00000423497.1_Silent_p.G291G|STX1A_ENST00000484736.1_5'Flank|WBSCR22_ENST00000423166.2_Intron	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	274					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGTACACCGGCCGCAAGCGCA	0.478																																						ENST00000265758.2																			0				autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13						c.(820-822)ggC>ggG		Williams Beuren syndrome chromosome region 22							52.0	56.0	54.0					7																	73112192		2203	4300	6503	SO:0001819	synonymous_variant	114049					nucleus	methyltransferase activity	g.chr7:73112192C>G	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.822C>G	7.37:g.73112192C>G						WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Silent_p.G291G	p.G274G	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN			12	880	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	274					A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Silent	SNP	ENST00000265758.2	37	c.822C>G	CCDS5557.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.256994	0.22965	.	.	ENSG00000071462	ENST00000453316	.	.	.	6.08	5.19	0.71726	.	.	.	.	.	T	0.70710	0.3255	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70051	-0.4978	4	.	.	.	-19.1303	14.6094	0.68504	0.1469:0.8531:0.0:0.0	.	.	.	.	A	58	.	.	P	+	1	0	WBSCR22	72750128	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.686000	0.25392	1.561000	0.49584	0.655000	0.94253	CCG		0.478	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1			10	53	0	0	0	1	0	10	53				
SMAD9	4093	broad.mit.edu	37	13	37427659	37427659	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr13:37427659T>C	ENST00000399275.2	-	5	1296	c.1157A>G	c.(1156-1158)aAc>aGc	p.N386S	SMAD9_ENST00000379826.4_Missense_Mutation_p.N386S|SMAD9_ENST00000350148.5_Missense_Mutation_p.N349S			O15198	SMAD9_HUMAN	SMAD family member 9	386	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GAGCTGGTTGTTGAAGACCTT	0.532																																						ENST00000379826.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18						c.(1156-1158)aAc>aGc		SMAD family member 9							130.0	88.0	102.0					13																	37427659		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37427659T>C		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.1157A>G	13.37:g.37427659T>C	ENSP00000382216:p.Asn386Ser					SMAD9_ENST00000350148.5_Missense_Mutation_p.N349S|SMAD9_ENST00000399275.2_Missense_Mutation_p.N386S	p.N386S	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	6	1499	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	386			MH2.		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.1157A>G	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012596	0.54468	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.98807	-5.15;-5.15;-5.15	5.42	4.24	0.50183	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.041888	0.85682	N	0.000000	D	0.97031	0.9030	L	0.57130	1.785	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.19946	0.007;0.027	D	0.94672	0.7857	10	0.56958	D	0.05	.	10.4555	0.44548	0.0:0.0768:0.0:0.9232	.	349;386	O15198-2;O15198	.;SMAD9_HUMAN	S	386;349;386	ENSP00000382216:N386S;ENSP00000239885:N349S;ENSP00000369154:N386S	ENSP00000239885:N349S	N	-	2	0	SMAD9	36325659	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.045000	0.71020	0.890000	0.36211	0.533000	0.62120	AAC		0.532	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2	NM_005905		7	44	0	0	0	1	0	7	44				
ARID3A	1820	broad.mit.edu	37	19	964321	964321	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:964321G>A	ENST00000263620.3	+	5	1167	c.840G>A	c.(838-840)acG>acA	p.T280T		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	280	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGGTGACGGAGAAGGGCG	0.607																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(838-840)acG>acA		AT rich interactive domain 3A (BRIGHT-like)							157.0	118.0	131.0					19																	964321		2203	4299	6502	SO:0001819	synonymous_variant	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:964321G>A	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.840G>A	19.37:g.964321G>A							p.T280T	NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1167	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	280			ARID.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	c.840G>A	CCDS12050.1																																																																																				0.607	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		3	73	0	0	0	1	0	3	73				
MEFV	4210	broad.mit.edu	37	16	3299469	3299469	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr16:3299469G>A	ENST00000219596.1	-	3	1261	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	MEFV_ENST00000536379.1_Missense_Mutation_p.R197W|MEFV_ENST00000339854.4_Missense_Mutation_p.R228W|MEFV_ENST00000541159.1_Missense_Mutation_p.R197W	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	408			R -> Q (in arFMF; associated with Q-148 and S-369 in cis; dbSNP:rs11466024). {ECO:0000269|PubMed:10364520, ECO:0000269|PubMed:23505238}.		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GGGCGCACCCGGTGGCCTTGG	0.602																																						ENST00000219596.1																			0				NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						c.(1222-1224)Cgg>Tgg		Mediterranean fever	Colchicine(DB01394)						59.0	56.0	57.0					16																	3299469		2197	4300	6497	SO:0001583	missense	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3299469G>A	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1222C>T	16.37:g.3299469G>A	ENSP00000219596:p.Arg408Trp					MEFV_ENST00000339854.4_Missense_Mutation_p.R228W|MEFV_ENST00000536379.1_Missense_Mutation_p.R197W|MEFV_ENST00000541159.1_Missense_Mutation_p.R197W	p.R408W	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN			3	1261	-			408		R -> Q (in arFMF; associated with Q-148 and S-369 in cis; could be a polymorphism; dbSNP:rs11466024).			D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	ENST00000219596.1	37	c.1222C>T	CCDS10498.1	.	.	.	.	.	.	.	.	.	.	G	4.456	0.084377	0.08583	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.35	1.3	0.21679	Zinc finger, B-box (3);	1.038830	0.07601	N	0.923697	T	0.49508	0.1561	M	0.81239	2.535	0.21355	N	0.999718	B	0.22800	0.075	B	0.19946	0.027	T	0.45687	-0.9244	10	0.49607	T	0.09	-10.0735	7.4279	0.27109	0.3397:0.0:0.6603:0.0	.	408	O15553	MEFV_HUMAN	W	408;408;228;197;197;197	ENSP00000219596:R408W;ENSP00000339639:R228W;ENSP00000438711:R197W;ENSP00000445079:R197W	ENSP00000219596:R408W	R	-	1	2	MEFV	3239470	0.002000	0.14202	0.092000	0.20876	0.001000	0.01503	-0.120000	0.10660	0.205000	0.20568	-0.742000	0.03525	CGG		0.602	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		30	59	0	0	0	1	0	30	59				
DNAH1	25981	broad.mit.edu	37	3	52412685	52412685	+	Silent	SNP	C	C	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr3:52412685C>A	ENST00000420323.2	+	47	7527	c.7266C>A	c.(7264-7266)acC>acA	p.T2422T		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2422	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTATGCAACCATCACCTCCC	0.602																																						ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(7264-7266)acC>acA		dynein, axonemal, heavy chain 1							115.0	129.0	124.0					3																	52412685		2145	4263	6408	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52412685C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7266C>A	3.37:g.52412685C>A							p.T2422T	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	47	7527	+			2422			AAA 3 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.7266C>A	CCDS46842.1																																																																																				0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		74	194	1	0	2.28164e-27	1	2.58299e-27	74	194				
FEM1A	55527	broad.mit.edu	37	19	4792557	4792557	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:4792557G>A	ENST00000269856.3	+	1	830	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	AC005523.2_ENST00000601192.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000596170.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	231					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CACCAACATCGTGGAGTACCT	0.687																																						ENST00000269856.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(691-693)Gtg>Atg		fem-1 homolog a (C. elegans)							24.0	28.0	26.0					19																	4792557		2197	4282	6479	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4792557G>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.691G>A	19.37:g.4792557G>A	ENSP00000269856:p.Val231Met					AC005523.2_ENST00000601192.1_RNA	p.V231M	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	830	+		Hepatocellular(1079;0.137)	231					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.691G>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373339	0.61624	.	.	ENSG00000141965	ENST00000269856	T	0.69040	-0.37	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	0.000000	0.64402	U	0.000006	T	0.81240	0.4781	M	0.72624	2.21	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81949	-0.0699	10	0.46703	T	0.11	-12.1219	18.0629	0.89382	0.0:0.0:1.0:0.0	.	231	Q9BSK4	FEM1A_HUMAN	M	231	ENSP00000269856:V231M	ENSP00000269856:V231M	V	+	1	0	FEM1A	4743557	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	9.674000	0.98633	2.257000	0.74773	0.484000	0.47621	GTG		0.687	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			3	88	0	0	0	1	0	3	88				
NUP37	79023	broad.mit.edu	37	12	102470594	102470594	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:102470594C>G	ENST00000552283.1	-	8	893	c.754G>C	c.(754-756)Gat>Cat	p.D252H	RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000543021.1_5'Flank|NUP37_ENST00000251074.1_Missense_Mutation_p.D252H			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	252					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CAGGCTCGATCCATGTGAACA	0.363																																						ENST00000552283.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						c.(754-756)Gat>Cat		nucleoporin 37kDa							156.0	133.0	141.0					12																	102470594		2203	4300	6503	SO:0001583	missense	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102470594C>G	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.754G>C	12.37:g.102470594C>G	ENSP00000448054:p.Asp252His					NUP37_ENST00000251074.1_Missense_Mutation_p.D252H	p.D252H			Q8NFH4	NUP37_HUMAN			8	893	-			252					Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	c.754G>C	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761928	0.89932	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744	T;T;T	0.31247	1.5;1.5;2.67	5.94	5.94	0.96194	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	M	0.78801	2.425	0.80722	D	1	D	0.59357	0.985	P	0.52710	0.707	T	0.52087	-0.8622	10	0.54805	T	0.06	-22.1885	20.3736	0.98901	0.0:1.0:0.0:0.0	.	252	Q8NFH4	NUP37_HUMAN	H	252;252;161	ENSP00000448054:D252H;ENSP00000251074:D252H;ENSP00000448086:D161H	ENSP00000251074:D252H	D	-	1	0	NUP37	100994724	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	6.615000	0.74201	2.820000	0.97059	0.650000	0.86243	GAT		0.363	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		6	27	0	0	0	1	0	6	27				
WSB1	26118	broad.mit.edu	37	17	25639358	25639358	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:25639358C>T	ENST00000262394.2	+	9	1545	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	RP11-173M1.8_ENST00000578929.1_lincRNA|WSB1_ENST00000348811.2_Missense_Mutation_p.P264L	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	410	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTGCCGATTCCTTCCAAGCTT	0.473																																						ENST00000262394.2																			0				lung(3)	3						c.(1228-1230)cCt>cTt		WD repeat and SOCS box containing 1							276.0	263.0	267.0					17																	25639358		2203	4300	6503	SO:0001583	missense	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25639358C>T	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.1229C>T	17.37:g.25639358C>T	ENSP00000262394:p.Pro410Leu					WSB1_ENST00000348811.2_Missense_Mutation_p.P264L	p.P410L	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	9	1545	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		410			SOCS box.		Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	37	c.1229C>T	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061040	0.76074	.	.	ENSG00000109046	ENST00000262394;ENST00000348811	D;D	0.88896	-2.44;-2.44	5.91	5.91	0.95273	SOCS protein, C-terminal (4);	0.000000	0.64402	D	0.000001	D	0.96731	0.8933	H	0.97051	3.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97181	0.9851	10	0.59425	D	0.04	-13.5756	19.2867	0.94077	0.0:1.0:0.0:0.0	.	264;410	Q9Y6I7-2;Q9Y6I7	.;WSB1_HUMAN	L	410;264	ENSP00000262394:P410L;ENSP00000327055:P264L	ENSP00000262394:P410L	P	+	2	0	WSB1	22663485	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	7.325000	0.79124	2.793000	0.96121	0.655000	0.94253	CCT		0.473	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		5	271	0	0	0	1	0	5	271				
PDPN	10630	broad.mit.edu	37	1	13940850	13940850	+	Silent	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr1:13940850C>T	ENST00000509009.1	+	5	455	c.411C>T	c.(409-411)atC>atT	p.I137I	PDPN_ENST00000513143.1_Silent_p.I100I|PDPN_ENST00000487038.1_Silent_p.I100I|PDPN_ENST00000376057.4_Silent_p.I218I|PDPN_ENST00000294489.6_Silent_p.I218I|PDPN_ENST00000475043.1_Silent_p.I100I|PDPN_ENST00000376061.4_Silent_p.I100I					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TACTAGCCATCGGCTTCATTG	0.433																																						ENST00000294489.6																			0				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16						c.(652-654)atC>atT		podoplanin							188.0	177.0	181.0					1																	13940850		2203	4300	6503	SO:0001819	synonymous_variant	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13940850C>T	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.411C>T	1.37:g.13940850C>T						PDPN_ENST00000487038.1_Silent_p.I100I|PDPN_ENST00000376061.4_Silent_p.I100I|PDPN_ENST00000513143.1_Silent_p.I100I|PDPN_ENST00000376057.4_Silent_p.I218I|PDPN_ENST00000509009.1_Silent_p.I137I|PDPN_ENST00000475043.1_Silent_p.I100I	p.I218I			Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	5	995	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	142						Silent	SNP	ENST00000509009.1	37	c.654C>T																																																																																					0.433	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474		34	68	0	0	0	1	0	34	68				
MTCL1	23255	broad.mit.edu	37	18	8824763	8824763	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr18:8824763G>A	ENST00000306329.11	+	13	4212	c.4212G>A	c.(4210-4212)gaG>gaA	p.E1404E	SOGA2_ENST00000518815.1_Silent_p.E410E|SOGA2_ENST00000400050.3_Silent_p.E1044E|SOGA2_ENST00000359865.3_Silent_p.E1085E|SOGA2_ENST00000517570.1_Silent_p.E1044E|SOGA2_ENST00000306285.7_Silent_p.E410E																							TCCTGCCTGAGAAGGGCCTGC	0.572																																						ENST00000359865.3																			0											c.(3253-3255)gaG>gaA		SOGA family member 2							73.0	56.0	62.0					18																	8824763		2203	4300	6503	SO:0001819	synonymous_variant	23255							g.chr18:8824763G>A																												ENST00000306329.11:c.4212G>A	18.37:g.8824763G>A						SOGA2_ENST00000306285.7_Silent_p.E410E|SOGA2_ENST00000517570.1_Silent_p.E1044E|SOGA2_ENST00000306329.11_Silent_p.E1404E|SOGA2_ENST00000400050.3_Silent_p.E1044E|SOGA2_ENST00000518815.1_Silent_p.E410E	p.E1085E	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			15	3397	+			1395						Silent	SNP	ENST00000306329.11	37	c.3255G>A																																																																																					0.572	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			23	57	0	0	0	1	0	23	57				
COL4A3	1285	broad.mit.edu	37	2	228159772	228159772	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr2:228159772G>A	ENST00000396578.3	+	40	3673	c.3511G>A	c.(3511-3513)Gaa>Aaa	p.E1171K	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1171	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGAAAAGGGAGAAACGGGTAC	0.418																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3511-3513)Gaa>Aaa		collagen, type IV, alpha 3 (Goodpasture antigen)							114.0	118.0	117.0					2																	228159772		1857	4099	5956	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228159772G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.3511G>A	2.37:g.228159772G>A	ENSP00000379823:p.Glu1171Lys					AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	p.E1171K	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	40	3673	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	1171			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.3511G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244546	0.79912	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.94184	-3.37	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000008	D	0.94424	0.8206	L	0.43757	1.38	0.49130	D	0.999754	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.996;0.996;0.996;0.998	D	0.90954	0.4807	10	0.09084	T	0.74	.	16.957	0.86262	0.0:0.0:1.0:0.0	.	1171;1171;1171;1171	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	K	1171	ENSP00000379823:E1171K	ENSP00000323334:E1171K	E	+	1	0	COL4A3	227868016	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.924000	0.70054	2.750000	0.94351	0.563000	0.77884	GAA		0.418	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		3	64	0	0	0	1	0	3	64				
FAT2	2196	broad.mit.edu	37	5	150947501	150947501	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:150947501A>C	ENST00000261800.5	-	1	1004	c.992T>G	c.(991-993)cTc>cGc	p.L331R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	331					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGGCTGAGGTTGAACCC	0.493																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(991-993)cTc>cGc		FAT atypical cadherin 2							106.0	115.0	112.0					5																	150947501		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947501A>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.992T>G	5.37:g.150947501A>C	ENSP00000261800:p.Leu331Arg						p.L331R	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1004	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	331					O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.992T>G	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.040393	0.75732	.	.	ENSG00000086570	ENST00000261800	T	0.79352	-1.26	5.55	5.55	0.83447	.	0.113159	0.39759	N	0.001274	D	0.86598	0.5971	M	0.74647	2.275	0.51233	D	0.999916	D	0.67145	0.996	D	0.62955	0.909	D	0.88376	0.2998	10	0.87932	D	0	.	15.6827	0.77385	1.0:0.0:0.0:0.0	.	331	Q9NYQ8	FAT2_HUMAN	R	331	ENSP00000261800:L331R	ENSP00000261800:L331R	L	-	2	0	FAT2	150927694	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.262000	0.95591	2.107000	0.64212	0.402000	0.26972	CTC		0.493	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		5	230	0	0	0	1	0	5	230				
OR2AG1	144125	broad.mit.edu	37	11	6806516	6806516	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:6806516C>T	ENST00000307401.4	+	1	269	c.248C>T	c.(247-249)gCg>gTg	p.A83V		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGGCCCTTGCGGACTTTCTG	0.572																																						ENST00000307401.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(247-249)gCg>gTg		olfactory receptor, family 2, subfamily AG, member 1							132.0	120.0	124.0					11																	6806516		2201	4296	6497	SO:0001583	missense	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6806516C>T	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.248C>T	11.37:g.6806516C>T	ENSP00000307447:p.Ala83Val						p.A83V	NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	269	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	83					B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	ENST00000307401.4	37	c.248C>T	CCDS31414.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.855212	0.00065	.	.	ENSG00000170803	ENST00000307401	T	0.00402	7.56	4.03	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	1.594120	0.03893	N	0.278995	T	0.00178	0.0005	N	0.03253	-0.375	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.36286	-0.9754	10	0.02654	T	1	.	7.1573	0.25645	0.0:0.1143:0.0:0.8857	.	83	Q9H205	O2AG1_HUMAN	V	83	ENSP00000307447:A83V	ENSP00000307447:A83V	A	+	2	0	OR2AG1	6763092	0.000000	0.05858	0.027000	0.17364	0.000000	0.00434	-0.351000	0.07711	0.727000	0.32360	-0.469000	0.05056	GCG		0.572	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		11	80	0	0	0	1	0	11	80				
TMC8	147138	broad.mit.edu	37	17	76128481	76128481	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:76128481C>G	ENST00000318430.5	+	4	714	c.340C>G	c.(340-342)Cgc>Ggc	p.R114G	TMC6_ENST00000322914.3_5'UTR|TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	114					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CACCTTCCTCCGCTTCCTGCT	0.687																																						ENST00000318430.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(340-342)Cgc>Ggc		transmembrane channel-like 8							55.0	42.0	46.0					17																	76128481		2202	4300	6502	SO:0001583	missense	147138					endoplasmic reticulum membrane|integral to membrane		g.chr17:76128481C>G	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.340C>G	17.37:g.76128481C>G	ENSP00000325561:p.Arg114Gly					TMC6_ENST00000322914.3_5'UTR|TMC8_ENST00000589691.1_5'UTR	p.R114G	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		4	714	+			114					Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	c.340C>G	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300893	0.60195	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	T	0.61274	0.12	4.28	4.28	0.50868	.	0.258257	0.36665	N	0.002461	T	0.74442	0.3717	M	0.83603	2.65	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.77670	-0.2501	10	0.87932	D	0	-26.8287	9.4676	0.38822	0.2114:0.7886:0.0:0.0	.	114	Q8IU68	TMC8_HUMAN	G	114	ENSP00000325561:R114G	ENSP00000301627:R114G	R	+	1	0	TMC8	73640076	0.067000	0.21026	0.970000	0.41538	0.796000	0.44982	0.313000	0.19415	2.221000	0.72209	0.561000	0.74099	CGC		0.687	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			11	32	0	0	0	1	0	11	32				
AKAP11	11215	broad.mit.edu	37	13	42874546	42874546	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr13:42874546C>T	ENST00000025301.2	+	8	1839	c.1664C>T	c.(1663-1665)gCa>gTa	p.A555V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	555					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAATTTGCAGCAGATCTTGTG	0.303																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(1663-1665)gCa>gTa		A kinase (PRKA) anchor protein 11							55.0	59.0	57.0					13																	42874546		2182	4292	6474	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42874546C>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.1664C>T	13.37:g.42874546C>T	ENSP00000025301:p.Ala555Val						p.A555V	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	1839	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	555					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.1664C>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110601	0.77210	.	.	ENSG00000023516	ENST00000025301	T	0.16743	2.32	5.5	5.5	0.81552	.	0.445064	0.23400	N	0.048587	T	0.26195	0.0639	L	0.57536	1.79	0.40029	D	0.9755	P	0.38827	0.649	B	0.40940	0.344	T	0.02661	-1.1127	10	0.66056	D	0.02	.	19.7429	0.96238	0.0:1.0:0.0:0.0	.	555	Q9UKA4	AKA11_HUMAN	V	555	ENSP00000025301:A555V	ENSP00000025301:A555V	A	+	2	0	AKAP11	41772546	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	5.705000	0.68355	2.734000	0.93682	0.484000	0.47621	GCA		0.303	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		9	32	0	0	0	1	0	9	32				
ZNF549	256051	broad.mit.edu	37	19	58050081	58050081	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:58050081C>T	ENST00000376233.3	+	4	1890	c.1709C>T	c.(1708-1710)aCc>aTc	p.T570I	ZNF549_ENST00000240719.3_Missense_Mutation_p.T557I|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	570					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(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGACACCGCACCAGCCTCATT	0.453																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1708-1710)aCc>aTc		zinc finger protein 549							66.0	68.0	67.0					19																	58050081		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58050081C>T	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1709C>T	19.37:g.58050081C>T	ENSP00000365407:p.Thr570Ile					ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.T557I|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	p.T570I	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1890	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	570					B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.1709C>T	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150359	0.37923	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.15256	2.44;2.44	2.5	-1.89	0.07689	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11623	0.0283	L	0.42686	1.345	0.09310	N	1	B;B	0.33073	0.396;0.063	B;B	0.26517	0.05;0.07	T	0.24012	-1.0172	9	0.66056	D	0.02	.	5.6955	0.17853	0.0:0.4939:0.372:0.1341	.	570;557	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	I	557;570	ENSP00000240719:T557I;ENSP00000365407:T570I	ENSP00000240719:T557I	T	+	2	0	ZNF549	62741893	0.000000	0.05858	0.000000	0.03702	0.813000	0.45954	-0.230000	0.09083	-0.040000	0.13580	0.585000	0.79938	ACC		0.453	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		8	43	0	0	0	1	0	8	43				
MOSPD3	64598	broad.mit.edu	37	7	100210601	100210601	+	Missense_Mutation	SNP	A	A	T	rs143182268		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:100210601A>T	ENST00000393950.2	+	1	469	c.187A>T	c.(187-189)Act>Tct	p.T63S	MOSPD3_ENST00000424091.2_Missense_Mutation_p.T63S|MOSPD3_ENST00000223054.4_Missense_Mutation_p.T63S|MOSPD3_ENST00000379527.2_Missense_Mutation_p.T63S	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	63	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCACAGGAACTGCGCTTCG	0.637																																						ENST00000393950.2																			0				breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(187-189)Act>Tct		motile sperm domain containing 3							56.0	63.0	61.0					7																	100210601		2203	4300	6503	SO:0001583	missense	64598					integral to membrane	structural molecule activity	g.chr7:100210601A>T	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.187A>T	7.37:g.100210601A>T	ENSP00000377522:p.Thr63Ser					MOSPD3_ENST00000379527.2_Missense_Mutation_p.T63S|MOSPD3_ENST00000223054.4_Missense_Mutation_p.T63S|MOSPD3_ENST00000424091.2_Missense_Mutation_p.T63S	p.T63S	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN			1	469	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		63			MSP.		A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	c.187A>T	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	A	13.96	2.392179	0.42410	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	3.99	2.98	0.34508	PapD-like (2);	0.358324	0.23813	N	0.044316	T	0.49098	0.1537	N	0.22421	0.69	0.24752	N	0.99298	B;B	0.16396	0.017;0.017	B;B	0.25614	0.025;0.062	T	0.18745	-1.0327	10	0.22109	T	0.4	-0.2819	2.097	0.03670	0.3272:0.3576:0.3152:0.0	.	63;63	C9JE89;O75425	.;MSPD3_HUMAN	S	63;63;63;63;63;49	ENSP00000223054:T63S;ENSP00000417276:T63S;ENSP00000368842:T63S;ENSP00000377522:T63S;ENSP00000404626:T63S	ENSP00000223054:T63S	T	+	1	0	MOSPD3	100048537	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.740000	0.38228	1.064000	0.40671	0.379000	0.24179	ACT		0.637	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		43	130	0	0	0	1	0	43	130				
VGLL3	389136	broad.mit.edu	37	3	87027942	87027942	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr3:87027942G>A	ENST00000398399.2	-	2	500	c.137C>T	c.(136-138)gCg>gTg	p.A46V	VGLL3_ENST00000383698.3_Missense_Mutation_p.A46V	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGAATACCGCTAACTTCTT	0.428																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(136-138)gCg>gTg		vestigial like 3 (Drosophila)							57.0	54.0	55.0					3																	87027942		1942	4165	6107	SO:0001583	missense	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027942G>A	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.137C>T	3.37:g.87027942G>A	ENSP00000381436:p.Ala46Val					VGLL3_ENST00000383698.3_Missense_Mutation_p.A46V	p.A46V	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	500	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	46						Missense_Mutation	SNP	ENST00000398399.2	37	c.137C>T	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471695	0.43942	.	.	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.55234	0.57;0.53	5.14	5.14	0.70334	.	0.353082	0.30193	N	0.010196	T	0.35653	0.0939	L	0.32530	0.975	0.34741	D	0.730782	P	0.49961	0.93	B	0.30943	0.122	T	0.58521	-0.7622	10	0.66056	D	0.02	-7.3039	12.9789	0.58552	0.0777:0.0:0.9223:0.0	.	46	A8MV65	VGLL3_HUMAN	V	46	ENSP00000381436:A46V;ENSP00000373199:A46V	ENSP00000373199:A46V	A	-	2	0	VGLL3	87110632	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.733000	0.38156	2.391000	0.81399	0.655000	0.94253	GCG		0.428	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		3	76	0	0	0	1	0	3	76				
USP30	84749	broad.mit.edu	37	12	109519153	109519153	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:109519153T>G	ENST00000257548.5	+	8	828	c.735T>G	c.(733-735)ttT>ttG	p.F245L	USP30_ENST00000392784.2_Missense_Mutation_p.F214L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	245	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CTGTTCGATTTGATACCTTTG	0.353																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(733-735)ttT>ttG		ubiquitin specific peptidase 30							174.0	172.0	172.0					12																	109519153		2203	4300	6503	SO:0001583	missense	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109519153T>G	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.735T>G	12.37:g.109519153T>G	ENSP00000257548:p.Phe245Leu					USP30_ENST00000392784.2_Missense_Mutation_p.F214L	p.F245L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			8	828	+			245					Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	37	c.735T>G	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	T	17.71	3.457319	0.63401	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	T;T	0.73897	-0.79;-0.79	5.65	-0.572	0.11745	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.056466	0.64402	D	0.000001	T	0.60766	0.2294	L	0.33753	1.03	0.41837	D	0.990105	B	0.15719	0.014	B	0.23150	0.044	T	0.55075	-0.8197	10	0.66056	D	0.02	-18.1283	9.9785	0.41800	0.0:0.4173:0.0:0.5827	.	245	Q70CQ3	UBP30_HUMAN	L	214;245	ENSP00000376535:F214L;ENSP00000257548:F245L	ENSP00000257548:F245L	F	+	3	2	USP30	108003536	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	0.080000	0.14802	0.096000	0.17463	0.528000	0.53228	TTT		0.353	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		33	75	0	0	0	1	0	33	75				
HNRNPA0	10949	broad.mit.edu	37	5	137089391	137089391	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:137089391C>A	ENST00000314940.4	-	1	648	c.365G>T	c.(364-366)gGc>gTc	p.G122V		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	122	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|response to lipopolysaccharide (GO:0032496)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCCACGGTGCCAAACTGCGA	0.587																																						ENST00000314940.4																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(364-366)gGc>gTc		heterogeneous nuclear ribonucleoprotein A0							75.0	74.0	75.0					5																	137089391		2203	4300	6503	SO:0001583	missense	10949				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding	g.chr5:137089391C>A	U23803	CCDS4193.1	5q31	2013-02-12		2007-08-16	ENSG00000177733	ENSG00000177733		"""RNA binding motif (RRM) containing"""	5030	protein-coding gene	gene with protein product		609409		HNRPA0		7585247	Standard	NM_006805		Approved	hnRNPA0	uc003lbt.3	Q13151	OTTHUMG00000129156	ENST00000314940.4:c.365G>T	5.37:g.137089391C>A	ENSP00000316042:p.Gly122Val						p.G122V	NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	648	-			122			RRM 2.		Q6IB18	Missense_Mutation	SNP	ENST00000314940.4	37	c.365G>T	CCDS4193.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774578	0.90108	.	.	ENSG00000177733	ENST00000314940	T	0.47177	0.85	4.97	4.97	0.65823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	U	0.000000	T	0.79534	0.4462	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86928	0.2071	10	0.87932	D	0	.	18.2349	0.89946	0.0:1.0:0.0:0.0	.	122	Q13151	ROA0_HUMAN	V	122	ENSP00000316042:G122V	ENSP00000316042:G122V	G	-	2	0	HNRNPA0	137117290	1.000000	0.71417	0.751000	0.31187	0.885000	0.51271	6.004000	0.70709	2.303000	0.77524	0.305000	0.20034	GGC		0.587	HNRNPA0-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251221.1	NM_006805		3	82	1	0	0.184627	1	0.184627	3	82				
NSD1	64324	broad.mit.edu	37	5	176720972	176720972	+	Silent	SNP	T	T	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:176720972T>A	ENST00000439151.2	+	23	6648	c.6603T>A	c.(6601-6603)tcT>tcA	p.S2201S	NSD1_ENST00000347982.4_Silent_p.S1932S|NSD1_ENST00000361032.4_Silent_p.S2098S|NSD1_ENST00000354179.4_Silent_p.S1932S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2201					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCGTCTGTCTTGTACTGAGC	0.567			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(6601-6603)tcT>tcA		nuclear receptor binding SET domain protein 1							94.0	92.0	93.0					5																	176720972		2203	4300	6503	SO:0001819	synonymous_variant	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176720972T>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6603T>A	5.37:g.176720972T>A		HNSCC(47;0.14)				NSD1_ENST00000361032.4_Silent_p.S2098S|NSD1_ENST00000354179.4_Silent_p.S1932S|NSD1_ENST00000347982.4_Silent_p.S1932S	p.S2201S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	23	6648	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2201					Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	c.6603T>A	CCDS4412.1																																																																																				0.567	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		35	51	0	0	0	1	0	35	51				
PSME3	10197	broad.mit.edu	37	17	40986805	40986805	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:40986805T>G	ENST00000590720.1	+	4	388	c.155T>G	c.(154-156)aTc>aGc	p.I52S	PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000293362.3_Missense_Mutation_p.I52S|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000441946.2_Missense_Mutation_p.I63S|PSME3_ENST00000545225.1_De_novo_Start_InFrame|PSME3_ENST00000541124.1_3'UTR			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ATCTTAAACATCCATGACCTA	0.418																																						ENST00000293362.3																			0				NS(1)|cervix(1)|large_intestine(3)|lung(1)	6						c.(154-156)aTc>aGc		proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)							173.0	147.0	156.0					17																	40986805		2203	4300	6503	SO:0001583	missense	10197				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding	g.chr17:40986805T>G	U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"""Proteasome (prosome, macropain) subunits"""	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.155T>G	17.37:g.40986805T>G	ENSP00000466794:p.Ile52Ser					PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000545225.1_De_novo_Start_InFrame|PSME3_ENST00000590720.1_Missense_Mutation_p.I52S|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000441946.2_Missense_Mutation_p.I63S	p.I52S	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	316	+		Breast(137;0.000143)	52					A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	ENST00000590720.1	37	c.155T>G	CCDS45689.1	.	.	.	.	.	.	.	.	.	.	T	9.005	0.981031	0.18812	.	.	ENSG00000131467	ENST00000293362;ENST00000441946;ENST00000543428	T;T	0.49432	0.78;0.78	5.5	3.25	0.37280	Proteasome activator pa28, REG alpha subunit (2);	0.408525	0.26525	N	0.023887	T	0.37433	0.1003	L	0.50333	1.59	0.80722	D	1	B;B;B	0.30973	0.175;0.175;0.302	B;B;B	0.29440	0.102;0.102;0.099	T	0.07908	-1.0748	10	0.22109	T	0.4	-13.2154	9.0196	0.36191	0.1245:0.0:0.1309:0.7446	.	52;52;52	Q6FHK7;P61289;P61289-2	.;PSME3_HUMAN;.	S	52	ENSP00000293362:I52S;ENSP00000437924:I52S	ENSP00000293362:I52S	I	+	2	0	PSME3	38240331	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	7.868000	0.87116	0.484000	0.27630	-0.344000	0.07964	ATC		0.418	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452430.1	NM_176863		25	82	0	0	0	1	0	25	82				
MST1L	11223	broad.mit.edu	37	1	17085193	17085193	+	RNA	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr1:17085193C>T	ENST00000455405.2	-	0	83							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GGATTGATGGCGGCTGGTCAT	0.577																																						ENST00000455405.2																			0																																																			0							g.chr1:17085193C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085193C>T														0	83	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.577	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		3	30	0	0	0	1	0	3	30				
GPD1	2819	broad.mit.edu	37	12	50498486	50498486	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:50498486G>A	ENST00000301149.3	+	2	403	c.171G>A	c.(169-171)caG>caA	p.Q57Q	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Silent_p.Q57Q	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	57					cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TCAACACGCAGCATGAGAATG	0.547																																					NSCLC(141;1402 1905 9497 13391 44868)	ENST00000301149.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(169-171)caG>caA		glycerol-3-phosphate dehydrogenase 1 (soluble)	NADH(DB00157)						118.0	106.0	110.0					12																	50498486		2203	4300	6503	SO:0001819	synonymous_variant	2819				glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity	g.chr12:50498486G>A		CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.171G>A	12.37:g.50498486G>A						GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Silent_p.Q57Q	p.Q57Q	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN			2	403	+			57					F8W1L5|Q8N1B0	Silent	SNP	ENST00000301149.3	37	c.171G>A	CCDS8799.1																																																																																				0.547	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1			5	260	0	0	0	1	0	5	260				
PDCL	5082	broad.mit.edu	37	9	125582653	125582653	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr9:125582653G>A	ENST00000259467.4	-	4	782	c.617C>T	c.(616-618)gCc>gTc	p.A206V		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	206					heterotrimeric G-protein complex assembly (GO:1902605)|intracellular signal transduction (GO:0035556)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						GTACTCTGCGGCAAGGCAGAT	0.478																																						ENST00000259467.4																			0				endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						c.(616-618)gCc>gTc		phosducin-like							96.0	75.0	82.0					9																	125582653		2203	4300	6503	SO:0001583	missense	5082				signal transduction|visual perception			g.chr9:125582653G>A	AF083325	CCDS6845.1	9q12-q13	2008-07-21			ENSG00000136940	ENSG00000136940			8770	protein-coding gene	gene with protein product		604421				10095058	Standard	NM_005388		Approved	PhLP, DKFZp564M1863	uc004bmz.2	Q13371	OTTHUMG00000020624	ENST00000259467.4:c.617C>T	9.37:g.125582653G>A	ENSP00000259467:p.Ala206Val						p.A206V	NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN			4	782	-			206					Q4VXB6|Q96AF1|Q9UEW7|Q9UFL0|Q9UNX1|Q9UNX2	Missense_Mutation	SNP	ENST00000259467.4	37	c.617C>T	CCDS6845.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818373	0.71028	.	.	ENSG00000136940	ENST00000259467	T	0.21932	1.98	5.72	5.72	0.89469	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.49293	-0.8955	10	0.87932	D	0	-15.2269	18.8846	0.92370	0.0:0.0:1.0:0.0	.	206	Q13371	PHLP_HUMAN	V	206	ENSP00000259467:A206V	ENSP00000259467:A206V	A	-	2	0	PDCL	124622474	1.000000	0.71417	0.233000	0.24025	0.191000	0.23601	9.476000	0.97823	2.717000	0.92951	0.655000	0.94253	GCC		0.478	PDCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053956.1	NM_005388		3	37	0	0	0	1	0	3	37				
ATM	472	broad.mit.edu	37	11	108218046	108218046	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:108218046T>A	ENST00000452508.2	+	60	8814	c.8625T>A	c.(8623-8625)aaT>aaA	p.N2875K	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.N2875K|ATM_ENST00000525178.1_3'UTR			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2875	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGTACAGAATATCTTGATAA	0.303			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8623-8625)aaT>aaA	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							99.0	105.0	103.0					11																	108218046		2201	4295	6496	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108218046T>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8625T>A	11.37:g.108218046T>A	ENSP00000388058:p.Asn2875Lys	TSP Lung(14;0.12)				ATM_ENST00000525178.1_3'UTR|ATM_ENST00000452508.2_Missense_Mutation_p.N2875K|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron	p.N2875K	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	59	9010	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2875			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8625T>A	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093052	0.76756	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.93189	-3.18;-3.18	5.52	0.703	0.18116	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.97629	0.9223	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95869	0.8889	10	0.87932	D	0	.	9.0404	0.36314	0.0:0.3603:0.0:0.6397	.	2875	Q13315	ATM_HUMAN	K	2875	ENSP00000278616:N2875K;ENSP00000388058:N2875K	ENSP00000278616:N2875K	N	+	3	2	ATM	107723256	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.640000	0.24705	0.078000	0.16900	0.454000	0.30748	AAT		0.303	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		21	60	0	0	0	1	0	21	60				
ARMC10	83787	broad.mit.edu	37	7	102727086	102727086	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:102727086C>T	ENST00000323716.3	+	4	795	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	ARMC10_ENST00000454559.1_Missense_Mutation_p.R100C|ARMC10_ENST00000425331.1_Missense_Mutation_p.R100C|ARMC10_ENST00000428183.2_Missense_Mutation_p.R135C|ARMC10_ENST00000441711.2_Missense_Mutation_p.R100C|ARMC10_ENST00000541300.1_Missense_Mutation_p.R100C	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	135					regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						GGCTATTATTCGTGAATTGGG	0.358																																						ENST00000323716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.(403-405)Cgt>Tgt		armadillo repeat containing 10							102.0	114.0	110.0					7																	102727086		2203	4298	6501	SO:0001583	missense	83787				regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding	g.chr7:102727086C>T	AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"""Armadillo repeat containing"""	21706	protein-coding gene	gene with protein product	"""specific Splicing Variant involved in Hepatocarcinogenesis"""	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.403C>T	7.37:g.102727086C>T	ENSP00000319412:p.Arg135Cys					ARMC10_ENST00000454559.1_Missense_Mutation_p.R100C|ARMC10_ENST00000541300.1_Missense_Mutation_p.R100C|ARMC10_ENST00000441711.2_Missense_Mutation_p.R100C|ARMC10_ENST00000425331.1_Missense_Mutation_p.R100C|ARMC10_ENST00000428183.2_Missense_Mutation_p.R135C	p.R135C	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN			4	795	+			135					A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Missense_Mutation	SNP	ENST00000323716.3	37	c.403C>T	CCDS5728.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415501	0.62511	.	.	ENSG00000170632	ENST00000323716;ENST00000428183;ENST00000441711;ENST00000454559;ENST00000425331;ENST00000541300;ENST00000434153;ENST00000431642	T;T;T;T;T;T;T;T	0.39056	1.1;1.58;1.1;1.58;1.1;1.1;1.1;1.1	5.44	4.56	0.56223	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64832	0.2634	M	0.80422	2.495	0.80722	D	1	D;P;D;D;D;D;D	0.89917	1.0;0.56;1.0;1.0;1.0;1.0;1.0	D;B;D;D;D;D;D	0.97110	0.994;0.112;0.998;0.999;0.999;0.999;1.0	T	0.67158	-0.5741	10	0.42905	T	0.14	-6.5641	13.428	0.61037	0.0:0.9227:0.0:0.0773	.	100;100;100;146;135;100;135	B4DWJ8;F5GX65;Q8N2F6-4;C9J5N7;Q8N2F6-3;Q8N2F6-2;Q8N2F6	.;.;.;.;.;.;ARM10_HUMAN	C	135;135;100;100;100;100;146;1	ENSP00000319412:R135C;ENSP00000396654:R135C;ENSP00000413619:R100C;ENSP00000405612:R100C;ENSP00000397969:R100C;ENSP00000440463:R100C;ENSP00000398201:R146C;ENSP00000406840:R1C	ENSP00000319412:R135C	R	+	1	0	ARMC10	102514322	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	5.167000	0.64972	1.433000	0.47394	-0.259000	0.10710	CGT		0.358	ARMC10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347882.1	NM_031905		9	103	0	0	0	1	0	9	103				
GOLGA2P5	55592	broad.mit.edu	37	12	100551034	100551034	+	RNA	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:100551034C>G	ENST00000397112.4	-	0	1893				RN7SL176P_ENST00000580352.1_RNA|AC010203.1_ENST00000408843.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GATGTACTCTCCTGCAGGAGG	0.622																																						ENST00000408843.1																			0																				114.0	97.0	103.0					12																	100551034		2203	4300	6503			0							g.chr12:100551034C>G																													12.37:g.100551034C>G						GOLGA2B_ENST00000397112.4_RNA								0	82	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.622	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			36	64	0	0	0	1	0	36	64				
ATP10B	23120	broad.mit.edu	37	5	160114977	160114977	+	Silent	SNP	T	T	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:160114977T>C	ENST00000327245.5	-	5	951	c.105A>G	c.(103-105)aaA>aaG	p.K35K	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	35					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGTCTCCCTTTCTCTGGAG	0.552																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(103-105)aaA>aaG		ATPase, class V, type 10B							145.0	146.0	146.0					5																	160114977		2045	4207	6252	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160114977T>C	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.105A>G	5.37:g.160114977T>C						CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	p.K35K	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	951	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	35					Q9H725	Silent	SNP	ENST00000327245.5	37	c.105A>G	CCDS43394.1																																																																																				0.552	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		3	158	0	0	0	1	0	3	158				
PSD	5662	broad.mit.edu	37	10	104165237	104165237	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr10:104165237A>G	ENST00000020673.5	-	12	2718	c.2192T>C	c.(2191-2193)gTc>gCc	p.V731A	PSD_ENST00000406432.1_Missense_Mutation_p.V731A	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	731					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCGCTTGATGACCTTGGGGTT	0.662																																						ENST00000020673.5																			0				breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2191-2193)gTc>gCc		pleckstrin and Sec7 domain containing							56.0	54.0	54.0					10																	104165237		2203	4300	6503	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104165237A>G	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2192T>C	10.37:g.104165237A>G	ENSP00000020673:p.Val731Ala					PSD_ENST00000406432.1_Missense_Mutation_p.V731A	p.V731A	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	12	2718	-			731					B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.2192T>C	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204969	0.38905	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.16597	2.33;2.33	4.21	4.21	0.49690	.	0.189342	0.36034	N	0.002834	T	0.06917	0.0176	N	0.08118	0	0.34148	D	0.667175	B;B	0.17852	0.005;0.024	B;B	0.19148	0.024;0.024	T	0.21895	-1.0232	10	0.17369	T	0.5	.	4.2974	0.10908	0.7318:0.0:0.2682:0.0	.	731;634	A5PKW4;Q86YI3	PSD1_HUMAN;.	A	731;634;731	ENSP00000020673:V731A;ENSP00000384830:V731A	ENSP00000020673:V731A	V	-	2	0	PSD	104155227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.213000	0.58520	1.769000	0.52152	0.459000	0.35465	GTC		0.662	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			29	45	0	0	0	1	0	29	45				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	0				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G						LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron	p.S598P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			3	55	0	0	0	1	0	3	55				
OR51B4	79339	broad.mit.edu	37	11	5322889	5322889	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:5322889G>A	ENST00000380224.1	-	1	337	c.288C>T	c.(286-288)ttC>ttT	p.F96F	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	96					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATTGGGTGAAACAGGCAG	0.507																																						ENST00000380224.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(286-288)ttC>ttT		olfactory receptor, family 51, subfamily B, member 4							151.0	136.0	141.0					11																	5322889		2201	4297	6498	SO:0001819	synonymous_variant	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322889G>A	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.288C>T	11.37:g.5322889G>A						HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	p.F96F	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	337	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	96					A7MAV5|Q6NTD7	Silent	SNP	ENST00000380224.1	37	c.288C>T	CCDS7757.1																																																																																				0.507	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		3	121	0	0	0	1	0	3	121				
ZNF527	84503	broad.mit.edu	37	19	37880057	37880057	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:37880057G>A	ENST00000436120.2	+	5	1213	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	369					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)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTTTAGCCGTTATGCCTTC	0.433																																						ENST00000436120.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33						c.(1105-1107)cGt>cAt		zinc finger protein 527							64.0	69.0	67.0					19																	37880057		2199	4300	6499	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880057G>A	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1106G>A	19.37:g.37880057G>A	ENSP00000390179:p.Arg369His					ZNF527_ENST00000587349.1_Intron	p.R369H	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1213	+			369					B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.1106G>A	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	7.909	0.736063	0.15574	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.67	0.148	0.14843	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34906	N	0.003584	T	0.18257	0.0438	L	0.35793	1.09	0.09310	N	0.999999	B;B	0.25609	0.084;0.13	B;B	0.10450	0.004;0.005	T	0.11641	-1.0579	9	0.13470	T	0.59	.	2.9287	0.05793	0.473:0.0:0.3199:0.2071	.	369;337	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	H	369;337;317	.	ENSP00000325231:R337H	R	+	2	0	ZNF527	42571897	0.000000	0.05858	0.035000	0.18076	0.996000	0.88848	-1.517000	0.02248	0.269000	0.21961	0.655000	0.94253	CGT		0.433	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		10	30	0	0	0	1	0	10	30				
DSEL	92126	broad.mit.edu	37	18	65179168	65179168	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr18:65179168G>T	ENST00000310045.7	-	2	4181	c.2708C>A	c.(2707-2709)aCt>aAt	p.T903N	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	893					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTCCAACTCAGTTTCAGGAAT	0.418																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2707-2709)aCt>aAt		dermatan sulfate epimerase-like							88.0	88.0	88.0					18																	65179168		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179168G>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2708C>A	18.37:g.65179168G>T	ENSP00000310565:p.Thr903Asn					CTD-2541J13.2_ENST00000583493.1_RNA	p.T903N	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	4181	-		Esophageal squamous(42;0.129)	893					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2708C>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.125300	0.56721	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.22743	1.94	5.13	5.13	0.70059	Sulfotransferase domain (1);	0.328310	0.31624	N	0.007338	T	0.27663	0.0680	L	0.50333	1.59	0.32563	N	0.530866	P	0.52577	0.954	P	0.48368	0.575	T	0.32428	-0.9907	10	0.44086	T	0.13	-18.8449	14.2941	0.66300	0.0:0.2736:0.7264:0.0	.	893	Q8IZU8	DSEL_HUMAN	N	903;893	ENSP00000310565:T903N	ENSP00000310565:T903N	T	-	2	0	DSEL	63330148	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.215000	0.65241	2.384000	0.81235	0.563000	0.77884	ACT		0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		15	48	1	0	6.72482e-11	1	7.33617e-11	15	48				
MFSD6	54842	broad.mit.edu	37	2	191354580	191354580	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr2:191354580G>C	ENST00000392328.1	+	6	2203	c.1879G>C	c.(1879-1881)Gat>Cat	p.D627H	MFSD6_ENST00000535751.1_Missense_Mutation_p.D89H|MFSD6_ENST00000281416.7_Missense_Mutation_p.D627H	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	627					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GGCAGTGCCAGATGAGGAAGA	0.478																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1879-1881)Gat>Cat		major facilitator superfamily domain containing 6							78.0	70.0	73.0					2																	191354580		2203	4300	6503	SO:0001583	missense	54842				transmembrane transport	integral to membrane		g.chr2:191354580G>C		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1879G>C	2.37:g.191354580G>C	ENSP00000376141:p.Asp627His					MFSD6_ENST00000535751.1_Missense_Mutation_p.D89H|MFSD6_ENST00000281416.7_Missense_Mutation_p.D627H	p.D627H	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			6	2203	+			627					D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	ENST00000392328.1	37	c.1879G>C	CCDS2306.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.05|16.05	3.011588|3.011588	0.54468|0.54468	.|.	.|.	ENSG00000151690|ENSG00000151690	ENST00000392328;ENST00000281416;ENST00000444317;ENST00000542423;ENST00000535751|ENST00000434582	T;T;T;T|.	0.80909|.	-1.43;-1.43;-1.43;-1.43|.	5.35|5.35	4.46|4.46	0.54185|0.54185	Major facilitator superfamily domain, general substrate transporter (1);|.	0.688708|.	0.16393|.	N|.	0.216370|.	T|T	0.33990|0.33990	0.0882|0.0882	N|N	0.19112|0.19112	0.55|0.55	0.26162|0.26162	N|N	0.98|0.98	B|.	0.15473|.	0.013|.	B|.	0.17979|.	0.02|.	T|T	0.21245|0.21245	-1.0251|-1.0251	10|5	0.46703|.	T|.	0.11|.	-2.9575|-2.9575	14.0888|14.0888	0.64975|0.64975	0.0:0.3059:0.6941:0.0|0.0:0.3059:0.6941:0.0	.|.	627|.	Q6ZSS7|.	MFSD6_HUMAN|.	H|T	627;627;89;89;89|162	ENSP00000376141:D627H;ENSP00000281416:D627H;ENSP00000406837:D89H;ENSP00000440917:D89H|.	ENSP00000281416:D627H|.	D|R	+|+	1|2	0|0	MFSD6|MFSD6	191062825|191062825	0.309000|0.309000	0.24518|0.24518	0.984000|0.984000	0.44739|0.44739	0.990000|0.990000	0.78478|0.78478	2.619000|2.619000	0.46401|0.46401	1.612000|1.612000	0.50221|0.50221	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.478	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			3	55	0	0	0	1	0	3	55				
SNIP1	79753	broad.mit.edu	37	1	38022567	38022567	+	5'Flank	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr1:38022567G>A	ENST00000296215.6	-	0	0				DNALI1_ENST00000296218.7_Missense_Mutation_p.S13N|SNIP1_ENST00000468040.1_5'Flank|DNALI1_ENST00000541606.1_5'Flank	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GGACAGGGCAGCTGCTGGGTT	0.647																																						ENST00000296218.7																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(37-39)aGc>aAc		dynein, axonemal, light intermediate chain 1							64.0	58.0	60.0					1																	38022567		2203	4300	6503	SO:0001631	upstream_gene_variant	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38022567G>A		CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225		1.37:g.38022567G>A	Exception_encountered						p.S13N	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN			1	48	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	0					Q96SP9|Q9H9T7	Missense_Mutation	SNP	ENST00000296215.6	37	c.38G>A	CCDS419.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981754	0.34942	.	.	ENSG00000163879	ENST00000296218	T	0.47528	0.84	4.12	-0.202	0.13208	.	2.094940	0.02659	N	0.107308	T	0.31040	0.0784	.	.	.	0.09310	N	0.999992	.	.	.	.	.	.	T	0.10613	-1.0622	7	0.25106	T	0.35	4.0609	3.8504	0.08953	0.3214:0.0:0.5123:0.1664	.	.	.	.	N	13	ENSP00000296218:S13N	ENSP00000296218:S13N	S	+	2	0	DNALI1	37795154	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.275000	0.08525	-0.012000	0.14223	0.491000	0.48974	AGC		0.647	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2	NM_024700		3	102	0	0	0	1	0	3	102				
UBR7	55148	broad.mit.edu	37	14	93684961	93684961	+	Silent	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr14:93684961G>A	ENST00000013070.6	+	7	926	c.690G>A	c.(688-690)gaG>gaA	p.E230E	UBR7_ENST00000416753.1_Silent_p.E154E	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	230							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AAAATGGAGAGCATCAAGATA	0.443																																						ENST00000013070.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						c.(688-690)gaG>gaA		ubiquitin protein ligase E3 component n-recognin 7 (putative)							116.0	102.0	107.0					14																	93684961		2203	4300	6503	SO:0001819	synonymous_variant	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93684961G>A	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.690G>A	14.37:g.93684961G>A						UBR7_ENST00000416753.1_Silent_p.E154E	p.E230E	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN			7	926	+			230					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Silent	SNP	ENST00000013070.6	37	c.690G>A	CCDS9909.1																																																																																				0.443	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		3	126	0	0	0	1	0	3	126				
MALAT1	378938	broad.mit.edu	37	11	65271006	65271006	+	lincRNA	SNP	C	C	G			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:65271006C>G	ENST00000534336.1	+	0	5774					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		CTGTTAGAATCAGATGTTACT	0.303																																						ENST00000534336.1																			0																				138.0	140.0	139.0					11																	65271006		874	1988	2862			0							g.chr11:65271006C>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271006C>G								NR_002819.2						0	5774	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.303	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		10	80	0	0	0	1	0	10	80				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	135	0	0	0	1	0	3	135				
QSOX1	5768	broad.mit.edu	37	1	180165946	180165946	+	Missense_Mutation	SNP	G	G	A	rs144062716		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr1:180165946G>A	ENST00000367602.3	+	12	2092	c.2018G>A	c.(2017-2019)cGc>cAc	p.R673H	QSOX1_ENST00000367600.5_Intron			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	673					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)	flavin-linked sulfhydryl oxidase activity (GO:0016971)|protein disulfide isomerase activity (GO:0003756)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGCGTGGGCCGCAGCTCCAAG	0.677																																						ENST00000367602.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2017-2019)cGc>cAc		quiescin Q6 sulfhydryl oxidase 1		G	,HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	37.0	48.0	44.0		,2018	2.6	1.0	1	dbSNP_134	44	1,8595	1.2+/-3.3	0,1,4297	no	intron,missense	QSOX1	NM_001004128.2,NM_002826.4	,29	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	,benign	,673/748	180165946	2,12998	2202	4298	6500	SO:0001583	missense	5768				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	g.chr1:180165946G>A	U97276	CCDS1337.1, CCDS30950.1	1q24	2008-02-05	2007-04-23	2007-04-23	ENSG00000116260	ENSG00000116260			9756	protein-coding gene	gene with protein product		603120	"""quiescin Q6"""	QSCN6		9878249, 8396966	Standard	NM_002826		Approved		uc001gnz.3	O00391	OTTHUMG00000035256	ENST00000367602.3:c.2018G>A	1.37:g.180165946G>A	ENSP00000356574:p.Arg673His					QSOX1_ENST00000367600.5_Intron	p.R673H			O00391	QSOX1_HUMAN			12	2092	+			673					Q59G29|Q5T2X0|Q8TDL6|Q8WVP4	Missense_Mutation	SNP	ENST00000367602.3	37	c.2018G>A	CCDS1337.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.937|9.937	1.216397|1.216397	0.22373|0.22373	2.27E-4|2.27E-4	1.16E-4|1.16E-4	ENSG00000116260|ENSG00000116260	ENST00000443059|ENST00000367602	.|T	.|0.04917	.|3.53	4.56|4.56	2.6|2.6	0.31112|0.31112	.|.	.|1.159230	.|0.06159	.|N	.|0.675565	T|T	0.05777|0.05777	0.0151|0.0151	L|L	0.38175|0.38175	1.15|1.15	0.32244|0.32244	N|N	0.572378|0.572378	.|B	.|0.26445	.|0.149	.|B	.|0.15052	.|0.012	T|T	0.32877|0.32877	-0.9890|-0.9890	5|10	.|0.19590	.|T	.|0.45	-12.0024|-12.0024	6.8416|6.8416	0.23965|0.23965	0.2183:0.0:0.7817:0.0|0.2183:0.0:0.7817:0.0	.|.	.|673	.|O00391	.|QSOX1_HUMAN	T|H	44|673	.|ENSP00000356574:R673H	.|ENSP00000356574:R673H	A|R	+|+	1|2	0|0	QSOX1|QSOX1	178432569|178432569	0.003000|0.003000	0.15002|0.15002	0.952000|0.952000	0.39060|0.39060	0.195000|0.195000	0.23768|0.23768	0.537000|0.537000	0.23144|0.23144	0.998000|0.998000	0.38996|0.38996	0.400000|0.400000	0.26472|0.26472	GCA|CGC		0.677	QSOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085289.1	NM_002826		3	69	0	0	0	1	0	3	69				
DNAH8	1769	broad.mit.edu	37	6	38830099	38830099	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr6:38830099G>A	ENST00000359357.3	+	42	5778	c.5524G>A	c.(5524-5526)Ggt>Agt	p.G1842S	DNAH8_ENST00000441566.1_Missense_Mutation_p.G1842S|DNAH8_ENST00000449981.2_Missense_Mutation_p.G2059S			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1842	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAACATGGGAGGTGCTCCCGC	0.473																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(5524-5526)Ggt>Agt		dynein, axonemal, heavy chain 8							127.0	121.0	123.0					6																	38830099		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38830099G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5524G>A	6.37:g.38830099G>A	ENSP00000352312:p.Gly1842Ser					DNAH8_ENST00000449981.2_Missense_Mutation_p.G2059S|DNAH8_ENST00000441566.1_Missense_Mutation_p.G1842S	p.G1842S							42	5778	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5524G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.710083	0.96821	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.16743	2.32;2.32;2.32	6.04	6.04	0.98038	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54497	-0.8285	10	0.72032	D	0.01	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	1842	Q96JB1	DYH8_HUMAN	S	2047;2047;1842;1842	ENSP00000333363:G2047S;ENSP00000352312:G1842S;ENSP00000402294:G1842S	ENSP00000333363:G2047S	G	+	1	0	DNAH8	38938077	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.694000	0.98686	2.873000	0.98535	0.563000	0.77884	GGT		0.473	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		3	136	0	0	0	1	0	3	136				
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:7577085C>T	ENST00000269305.4	-	8	1042	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K	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	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	TTCTCTTCCTCTGTGCGCCGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		165	Substitution - Missense(115)|Substitution - Nonsense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)	urinary_tract(53)|breast(18)|large_intestine(15)|lung(11)|upper_aerodigestive_tract(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(6)|oesophagus(6)|liver(6)|skin(5)|prostate(4)|bone(4)|biliary_tract(3)|ovary(3)|adrenal_gland(1)|soft_tissue(1)|eye(1)|pancreas(1)|thyroid(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	CM995136	TP53	M	rs112431538	c.(853-855)Gag>Aag	Other conserved DNA damage response genes	tumor protein p53							91.0	78.0	82.0					17																	7577085		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.chr17:7577085C>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.853G>A	17.37:g.7577085C>T	ENSP00000269305:p.Glu285Lys	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_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K	p.E285K	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)	8	985	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	285		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.853G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703759	0.88924	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.89904	3.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.994;0.983;0.994;0.998	D	0.96661	0.9489	10	0.87932	D	0	-38.0538	15.807	0.78520	0.0:1.0:0.0:0.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	285;285;285;285;285;274;153	ENSP00000352610:E285K;ENSP00000269305:E285K;ENSP00000398846:E285K;ENSP00000391127:E285K;ENSP00000391478:E285K;ENSP00000425104:E153K	ENSP00000269305:E285K	E	-	1	0	TP53	7517810	1.000000	0.71417	0.900000	0.35374	0.716000	0.41182	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	26	0	0	0	1	0	21	26				
NCAN	1463	broad.mit.edu	37	19	19356217	19356217	+	Silent	SNP	C	C	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:19356217C>T	ENST00000252575.6	+	13	3687	c.3588C>T	c.(3586-3588)aaC>aaT	p.N1196N	NCAN_ENST00000538881.1_Silent_p.N647N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1196	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGCGCTGGAACGATGTCCCCT	0.552																																						ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(3586-3588)aaC>aaT		neurocan							136.0	116.0	123.0					19																	19356217		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19356217C>T	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3588C>T	19.37:g.19356217C>T						NCAN_ENST00000538881.1_Silent_p.N647N	p.N1196N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		13	3631	+			1196			C-type lectin.		Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.3588C>T	CCDS12397.1																																																																																				0.552	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		30	64	0	0	0	1	0	30	64				
TEAD1	7003	broad.mit.edu	37	11	12946524	12946524	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:12946524G>T	ENST00000526600.1	+	6	874	c.651G>T	c.(649-651)gaG>gaT	p.E217D	TEAD1_ENST00000334310.6_Missense_Mutation_p.E244D|TEAD1_ENST00000361905.4_Missense_Mutation_p.E298D|TEAD1_ENST00000361985.2_Missense_Mutation_p.E313D|TEAD1_ENST00000527636.1_Missense_Mutation_p.E313D|TEAD1_ENST00000527575.1_Missense_Mutation_p.E255D|RP11-47J17.2_ENST00000454086.2_RNA			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	313	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTCAGTACGAGAGTTCTGAAA	0.418																																						ENST00000361905.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17						c.(892-894)gaG>gaT		TEA domain family member 1 (SV40 transcriptional enhancer factor)							161.0	151.0	154.0					11																	12946524		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12946524G>T	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.651G>T	11.37:g.12946524G>T	ENSP00000435393:p.Glu217Asp					TEAD1_ENST00000527575.1_Missense_Mutation_p.E255D|TEAD1_ENST00000361985.2_Missense_Mutation_p.E313D|TEAD1_ENST00000334310.6_Missense_Mutation_p.E244D|TEAD1_ENST00000527636.1_Missense_Mutation_p.E313D|TEAD1_ENST00000526600.1_Missense_Mutation_p.E217D	p.E298D	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	11	1559	+			313			Transcriptional activation (Potential).		A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37	c.894G>T		.	.	.	.	.	.	.	.	.	.	G	22.6	4.309684	0.81247	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23	5.75	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.65281	0.2676	M	0.93328	3.405	0.29763	N	0.835409	P;D;P	0.71674	0.936;0.998;0.555	D;D;B	0.66084	0.937;0.941;0.38	T	0.70270	-0.4918	10	0.62326	D	0.03	-0.7127	10.2184	0.43182	0.1507:0.0:0.8493:0.0	.	244;217;313	A4FUP2;E9PKB7;P28347	.;.;TEAD1_HUMAN	D	298;313;255;244;313;217	ENSP00000355332:E298D;ENSP00000435233:E313D;ENSP00000435977:E255D;ENSP00000334754:E244D;ENSP00000354588:E313D;ENSP00000435393:E217D	ENSP00000334754:E244D	E	+	3	2	TEAD1	12903100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.867000	0.39499	1.436000	0.47453	0.655000	0.94253	GAG		0.418	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		13	89	1	0	9.05144e-12	1	1.00572e-11	13	89				
HIST1H2AG	8969	broad.mit.edu	37	6	27101129	27101129	+	Silent	SNP	G	G	A	rs565599616		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr6:27101129G>A	ENST00000359193.2	+	1	298	c.279G>A	c.(277-279)gaG>gaA	p.E93E	HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	93						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						ACGACGAGGAGCTCAACAAGC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18026	0.0		0.0	False		,,,				2504	0.0					ENST00000359193.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						c.(277-279)gaG>gaA		histone cluster 1, H2ag							119.0	113.0	115.0					6																	27101129		2203	4300	6503	SO:0001819	synonymous_variant	8969				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27101129G>A	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.279G>A	6.37:g.27101129G>A							p.E93E	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN			1	298	+			93					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359193.2	37	c.279G>A	CCDS4619.1																																																																																				0.617	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1	NM_021064		4	204	0	0	0	1	0	4	204				
CKMT2	1160	broad.mit.edu	37	5	80559388	80559388	+	Missense_Mutation	SNP	G	G	A	rs200838735	byFrequency	TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:80559388G>A	ENST00000424301.2	+	10	1331	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.A365T|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.A365T|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	365	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TGCCGCGGTCGCAGATGTGTA	0.463													G|||	2	0.000399361	0.0	0.0	5008	,	,		12532	0.0		0.002	False		,,,				2504	0.0					ENST00000424301.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17						c.(1093-1095)Gca>Aca		creatine kinase, mitochondrial 2 (sarcomeric)	Creatine(DB00148)						120.0	113.0	115.0					5																	80559388		2203	4300	6503	SO:0001583	missense	1160				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr5:80559388G>A		CCDS4053.1	5q14.1	2013-09-20			ENSG00000131730	ENSG00000131730	2.7.3.2		1996	protein-coding gene	gene with protein product		123295				2324105	Standard	NM_001825		Approved	SMTCK	uc003khd.4	P17540	OTTHUMG00000119013	ENST00000424301.2:c.1093G>A	5.37:g.80559388G>A	ENSP00000404203:p.Ala365Thr					CKMT2_ENST00000254035.4_Missense_Mutation_p.A365T|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.A365T|CTC-281B15.1_ENST00000505295.1_RNA	p.A365T	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	10	1331	+		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)	365			Phosphagen kinase C-terminal.		Q6ICS8|Q8N1E1	Missense_Mutation	SNP	ENST00000424301.2	37	c.1093G>A	CCDS4053.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	20.6	4.015148	0.75161	.	.	ENSG00000131730	ENST00000254035;ENST00000437669;ENST00000424301	T;T;T	0.11277	2.79;2.79;2.79	5.76	5.76	0.90799	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.052228	0.85682	D	0.000000	T	0.06781	0.0173	N	0.03608	-0.345	0.58432	D	0.999999	B	0.30281	0.275	B	0.24155	0.051	T	0.42310	-0.9459	10	0.87932	D	0	-18.7922	19.9625	0.97256	0.0:0.0:1.0:0.0	.	365	P17540	KCRS_HUMAN	T	365	ENSP00000254035:A365T;ENSP00000410289:A365T;ENSP00000404203:A365T	ENSP00000254035:A365T	A	+	1	0	CKMT2	80595144	1.000000	0.71417	0.988000	0.46212	0.445000	0.32107	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GCA		0.463	CKMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369600.1	NM_001825		3	109	0	0	0	1	0	3	109				
CRIPAK	285464	broad.mit.edu	37	4	1389054	1389055	+	Frame_Shift_Ins	INS	-	-	CA	rs144861850		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr4:1389054_1389055insCA	ENST00000324803.4	+	1	3715_3716	c.755_756insCA	c.(754-759)ctcacgfs	p.LT252fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	252					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.C254fs*176(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACGTGCCGAT	0.693																																						ENST00000324803.4																			1	Insertion - Frameshift(1)	p.C254fs*176(1)	lung(1)	NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(754-756)cacfs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389054_1389055insCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.756_757dupCA	4.37:g.1389055_1389056dupCA	ENSP00000323978:p.Leu252fs						p.H252fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3715_3716	+			252					Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.755_756insCA	CCDS3349.1																																																																																				0.693	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		7	889						7	889	---	---	---	---
KCTD16	57528	broad.mit.edu	37	5	143853531	143853531	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:143853531delA	ENST00000507359.3	+	3	2232	c.1141delA	c.(1141-1143)aaafs	p.K383fs	KCTD16_ENST00000512467.1_Frame_Shift_Del_p.K383fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	383					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CATGAGCAGCAAAAAAAAAGC	0.468																																						ENST00000507359.2																			0				large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(1141-1143)aafs		potassium channel tetramerization domain containing 16				51,4211		5,41,2085	53.0	63.0	59.0			4.8	1.0	5		61	75,8177		18,39,4069	no	frameshift	KCTD16	NM_020768.3		23,80,6154	A1A1,A1R,RR		0.9089,1.1966,1.0069			143853531	126,12388	2203	4300	6503	SO:0001589	frameshift_variant	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143853531delA	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1141delA	5.37:g.143853531delA	ENSP00000426548:p.Lys383fs					KCTD16_ENST00000512467.1_Frame_Shift_Del_p.K383fs	p.K383fs	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	2232	+		all_hematologic(541;0.118)	383					Q9P2M9	Frame_Shift_Del	DEL	ENST00000507359.3	37	c.1141delA	CCDS34260.1																																																																																				0.468	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		7	82						7	82	---	---	---	---
RNF145	153830	broad.mit.edu	37	5	158630642	158630642	+	5'UTR	DEL	T	T	-	rs74770414|rs202186112		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:158630642delT	ENST00000424310.2	-	0	343				RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs|RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000274542.2_Frame_Shift_Del_p.K26fs|RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000519865.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			tttttttttcttttttttttt	0.363																																						ENST00000274542.2																			0				endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(67-69)agfs		ring finger protein 145							31.0	34.0	33.0					5																	158630642		2202	4300	6502	SO:0001623	5_prime_UTR_variant	153830					integral to membrane	zinc ion binding	g.chr5:158630642delT	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.-17A>-	5.37:g.158630642delT						RNF145_ENST00000424310.2_5'UTR|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000521606.2_Frame_Shift_Del_p.K15fs|RNF145_ENST00000518802.1_Frame_Shift_Del_p.K28fs|RNF145_ENST00000520638.1_Frame_Shift_Del_p.K12fs	p.K26fs	NM_144726.2	NP_653327.1	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	94	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	0					B7Z903|B7Z949|E7EVI7|Q8IVP7	Frame_Shift_Del	DEL	ENST00000424310.2	37	c.68delA	CCDS56390.1																																																																																				0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		3	4						3	4	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			5	7						5	7	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1009551	1009577	+	In_Frame_Del	DEL	GCCCCCGCGGAGGCCCCACCACACTCT	GCCCCCGCGGAGGCCCCACCACACTCT	-	rs573396231|rs58448123|rs142516571	byFrequency	TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT	ENST00000234389.3	+	9	3101_3127	c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT	c.(3082-3108)gcccccgcggaggccccaccacactctdel	p.APAEAPPHS1028del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	1028					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCCAGAGCGGCCCCCGCGGAGGCCCCACCACACTCTGGCCGACCGG	0.692														895	0.178714	0.1959	0.1744	5008	,	,		11397	0.1042		0.2167	False		,,,				2504	0.1963					ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(3082-3108)del		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)			362,1598		137,88,755						-8.8	0.0		dbSNP_129	2	883,3849		318,247,1801	no	coding	GRIN3B	NM_138690.1		455,335,2556	A1A1,A1R,RR		18.6602,18.4694,18.6043				1245,5447				SO:0001651	inframe_deletion	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT	19.37:g.1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT	ENSP00000234389:p.Ala1028_Ser1036del						p.APAEAPPHS1028del	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	3101_3127	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	1028					Q5EAK7|Q7RTW9	In_Frame_Del	DEL	ENST00000234389.3	37	c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT	CCDS32861.1																																																																																				0.692	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			4	5						4	5	---	---	---	---
