#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRDM16	63976	broad.mit.edu	37	1	3328822	3328822	+	Silent	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:3328822C>T	ENST00000270722.5	+	9	2110	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G	PRDM16_ENST00000441472.2_Silent_p.G687G|PRDM16_ENST00000378391.2_Silent_p.G687G|PRDM16_ENST00000442529.2_Silent_p.G687G|PRDM16_ENST00000511072.1_Silent_p.G688G|PRDM16_ENST00000378398.3_Silent_p.G688G|PRDM16_ENST00000514189.1_Silent_p.G688G|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	687	Interaction with CTBP1 and CTBP2. {ECO:0000250}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTGCAACGGGCGCCGCCGGGG	0.657			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(2062-2064)ggC>ggT		PR domain containing 16							49.0	60.0	56.0					1																	3328822		2008	4160	6168	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328822C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2061C>T	1.37:g.3328822C>T			Somatic				PRDM16_ENST00000511072.1_Silent_p.G688G|PRDM16_ENST00000378391.2_Silent_p.G687G|PRDM16_ENST00000442529.2_Silent_p.G687G|PRDM16_ENST00000441472.2_Silent_p.G687G|PRDM16_ENST00000270722.5_Silent_p.G687G|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.G688G	p.G688G			WXS	Illumina GAIIx	Phase_I	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	10	2146	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	687			Interaction with CTBP1 and CTBP2 (By similarity).		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.2064C>T	CCDS41236.2																																																																																				0.657	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		18	43	18	43	---	---	---	---
RNF186	54546	broad.mit.edu	37	1	20141158	20141158	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:20141158C>T	ENST00000375121.2	-	1	613	c.437G>A	c.(436-438)aGt>aAt	p.S146N	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	146						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTTTGCACTTACTTCATC	0.607																																						ENST00000375121.2																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(436-438)aGt>aAt		ring finger protein 186							97.0	115.0	109.0					1																	20141158		2203	4300	6503	SO:0001583	missense	54546					integral to membrane	zinc ion binding	g.chr1:20141158C>T		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.437G>A	1.37:g.20141158C>T	ENSP00000364263:p.Ser146Asn		Somatic				RP11-91K11.2_ENST00000454736.1_RNA	p.S146N	NM_019062.1	NP_061935.1	WXS	Illumina GAIIx	Phase_I	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	613	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	146					Q53GE0	Missense_Mutation	SNP	ENST00000375121.2	37	c.437G>A	CCDS199.1	.	.	.	.	.	.	.	.	.	.	C	4.061	0.009104	0.07912	.	.	ENSG00000178828	ENST00000375121	T	0.33654	1.4	5.71	1.62	0.23740	.	0.685525	0.13903	N	0.354741	T	0.16599	0.0399	N	0.04880	-0.145	0.09310	N	1	B	0.15930	0.015	B	0.16722	0.016	T	0.21449	-1.0245	10	0.33940	T	0.23	-3.5764	6.7307	0.23381	0.0:0.5579:0.2415:0.2006	.	146	Q9NXI6	RN186_HUMAN	N	146	ENSP00000364263:S146N	ENSP00000364263:S146N	S	-	2	0	RNF186	20013745	0.001000	0.12720	0.099000	0.21106	0.196000	0.23810	0.214000	0.17541	0.317000	0.23160	0.655000	0.94253	AGT		0.607	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		5	80	5	80	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43888957	43888957	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:43888957T>C	ENST00000562955.1	+	15	2225	c.2225T>C	c.(2224-2226)cTg>cCg	p.L742P	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	742					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTTGTGGTCCTGCATAAGCCA	0.627																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(2224-2226)cTg>cCg		seizure threshold 2 homolog (mouse)							44.0	41.0	42.0					1																	43888957		876	1991	2867	SO:0001583	missense	23334					peroxisome		g.chr1:43888957T>C	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.2225T>C	1.37:g.43888957T>C	ENSP00000457168:p.Leu742Pro		Somatic				SZT2_ENST00000372442.1_5'UTR	p.L742P	NM_015284.3	NP_056099.3	WXS	Illumina GAIIx	Phase_I	Q5T011	SZT2_HUMAN			15	2225	+			742					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.2225T>C	CCDS30694.2																																																																																				0.627	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		3	31	3	31	---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114968071	114968071	+	Splice_Site	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:114968071C>T	ENST00000358465.2	-	9	1778	c.1695G>A	c.(1693-1695)caG>caA	p.Q565Q	TRIM33_ENST00000369543.2_Splice_Site_p.Q565Q|TRIM33_ENST00000450349.2_Splice_Site_p.Q173Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	565					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGATACTTACCTGTTGTTGTA	0.383			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(1693-1695)caG>caA		tripartite motif containing 33							246.0	249.0	248.0					1																	114968071		2203	4300	6503	SO:0001630	splice_region_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968071C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1695+1G>A	1.37:g.114968071C>T			Somatic				TRIM33_ENST00000450349.2_Splice_Site_p.Q173Q|TRIM33_ENST00000369543.2_Splice_Site_p.Q565Q	p.Q565Q	NM_015906.3	NP_056990.3	WXS	Illumina GAIIx	Phase_I	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1778	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	565					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Splice_Site	SNP	ENST00000358465.2	37	c.1695G>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610983	0.28712	.	.	ENSG00000197323	ENST00000448034	.	.	.	4.86	2.99	0.34606	.	.	.	.	.	T	0.48114	0.1482	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44452	-0.9327	4	.	.	.	-6.7369	10.9116	0.47112	0.0:0.8476:0.0:0.1524	.	.	.	.	N	302	.	.	S	-	2	0	TRIM33	114769594	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	4.190000	0.58365	0.577000	0.29470	0.650000	0.86243	AGC		0.383	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	Silent	42	85	42	85	---	---	---	---
SHE	126669	broad.mit.edu	37	1	154459160	154459160	+	Splice_Site	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:154459160C>G	ENST00000304760.2	-	4	1111		c.e4-1			NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E											breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAAACTGGACTGGAAGGAAG	0.542																																						ENST00000304760.2																			0				breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14						c.e4-1		Src homology 2 domain containing E							67.0	60.0	63.0					1																	154459160		2203	4300	6503	SO:0001630	splice_region_variant	126669							g.chr1:154459160C>G	AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"""SH2 domain containing"""	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.1025-1G>C	1.37:g.154459160C>G			Somatic						NM_001010846.2	NP_001010846.1	WXS	Illumina GAIIx	Phase_I	Q5VZ18	SHE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	1111	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)							Q8TEQ5	Splice_Site	SNP	ENST00000304760.2	37		CCDS30877.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373545	0.82573	.	.	ENSG00000169291	ENST00000555188;ENST00000304760	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4953	0.90863	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHE	152725784	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.016000	0.76393	2.785000	0.95823	0.591000	0.81541	.		0.542	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2	NM_001010846	Intron	23	20	23	20	---	---	---	---
CD5L	922	broad.mit.edu	37	1	157804238	157804238	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:157804238T>G	ENST00000368174.4	-	4	773	c.677A>C	c.(676-678)aAc>aCc	p.N226T	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	226	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTTGCAGGTGTTCTTCCCCCA	0.493																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(676-678)aAc>aCc		CD5 molecule-like							54.0	47.0	49.0					1																	157804238		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804238T>G	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.677A>C	1.37:g.157804238T>G	ENSP00000357156:p.Asn226Thr		Somatic					p.N226T	NM_005894.2	NP_005885.1	WXS	Illumina GAIIx	Phase_I	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	773	-	all_hematologic(112;0.0378)		226			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.677A>C	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298841	0.40694	.	.	ENSG00000073754	ENST00000368174	T	0.34859	1.34	4.87	-3.67	0.04476	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.453140	0.04150	N	0.321116	T	0.13372	0.0324	L	0.39898	1.24	0.09310	N	1	B	0.26147	0.143	B	0.34093	0.175	T	0.42882	-0.9425	10	0.56958	D	0.05	.	7.1112	0.25390	0.1069:0.3572:0.0:0.5359	.	226	O43866	CD5L_HUMAN	T	226	ENSP00000357156:N226T	ENSP00000357156:N226T	N	-	2	0	CD5L	156070862	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.142000	0.16096	-1.448000	0.01941	-2.096000	0.00365	AAC		0.493	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		25	20	25	20	---	---	---	---
SMEK2	57223	broad.mit.edu	37	2	55825874	55825874	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:55825874C>G	ENST00000345102.5	-	4	900	c.599G>C	c.(598-600)gGa>gCa	p.G200A	SMEK2_ENST00000272313.5_Missense_Mutation_p.G200A|SMEK2_ENST00000407823.3_Missense_Mutation_p.G200A	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	200					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAATAAGATTCCTCTAATAAT	0.373																																						ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(598-600)gGa>gCa		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							67.0	71.0	69.0					2																	55825874		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55825874C>G	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.599G>C	2.37:g.55825874C>G	ENSP00000339769:p.Gly200Ala		Somatic				SMEK2_ENST00000345102.5_Missense_Mutation_p.G200A|SMEK2_ENST00000407823.3_Missense_Mutation_p.G200A	p.G200A	NM_020463.2	NP_065196.1	WXS	Illumina GAIIx	Phase_I	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	926	-			200					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.599G>C	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944737	0.73672	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.41758	0.99;0.99;0.99	5.74	5.74	0.90152	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.046376	0.85682	D	0.000000	T	0.54759	0.1878	L	0.42529	1.33	0.80722	D	1	P;D;B;P	0.55605	0.537;0.972;0.365;0.771	B;P;B;P	0.60609	0.236;0.877;0.131;0.549	T	0.36237	-0.9756	10	0.22706	T	0.39	-14.3084	19.9219	0.97089	0.0:1.0:0.0:0.0	.	200;200;200;200	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	A	200	ENSP00000272313:G200A;ENSP00000385912:G200A;ENSP00000339769:G200A	ENSP00000272313:G200A	G	-	2	0	SMEK2	55679378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.697000	0.92050	0.655000	0.94253	GGA		0.373	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		23	53	23	53	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210559664	210559664	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:210559664A>G	ENST00000360351.4	+	7	3276	c.2770A>G	c.(2770-2772)Aga>Gga	p.R924G	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R920G	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	924					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGCAGCCGGAAGAGTCAAAGA	0.453																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2770-2772)Aga>Gga		microtubule-associated protein 2	Estramustine(DB01196)						70.0	75.0	73.0					2																	210559664		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559664A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2770A>G	2.37:g.210559664A>G	ENSP00000353508:p.Arg924Gly		Somatic				MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R920G|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	p.R924G	NM_002374.3	NP_002365.3	WXS	Illumina GAIIx	Phase_I	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3276	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	924					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2770A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430939	0.62844	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.26660	1.72;1.72	5.9	4.7	0.59300	MAP2/Tau projection (1);	0.086607	0.49916	D	0.000130	T	0.43077	0.1231	L	0.54323	1.7	0.36991	D	0.89479	D;D	0.64830	0.992;0.994	P;D	0.63793	0.866;0.918	T	0.52245	-0.8601	10	0.87932	D	0	-23.3209	13.2917	0.60274	0.8683:0.1317:0.0:0.0	.	920;924	P11137-3;P11137	.;MAP2_HUMAN	G	924;920	ENSP00000353508:R924G;ENSP00000392164:R920G	ENSP00000353508:R924G	R	+	1	2	MAP2	210267909	1.000000	0.71417	0.958000	0.39756	0.872000	0.50106	4.028000	0.57246	2.266000	0.75297	0.528000	0.53228	AGA		0.453	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		8	43	8	43	---	---	---	---
SAG	6295	broad.mit.edu	37	2	234237211	234237211	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:234237211C>G	ENST00000409110.1	+	8	830	c.600C>G	c.(598-600)ttC>ttG	p.F200L	SAG_ENST00000449594.2_Missense_Mutation_p.F66L	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	200					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CCTGGCAGTTCTTCATGTCTG	0.602																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(598-600)ttC>ttG		S-antigen; retina and pineal gland (arrestin)							100.0	99.0	100.0					2																	234237211		1996	4174	6170	SO:0001583	missense	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237211C>G		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.600C>G	2.37:g.234237211C>G	ENSP00000386444:p.Phe200Leu		Somatic				SAG_ENST00000449594.2_Missense_Mutation_p.F66L	p.F200L	NM_000541.4	NP_000532.2	WXS	Illumina GAIIx	Phase_I	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	8	830	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	200					A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	c.600C>G	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013602	0.75161	.	.	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	T;T	0.08546	3.08;3.08	4.19	4.19	0.49359	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.12646	0.0307	M	0.83312	2.635	0.58432	D	0.999999	P;P	0.50369	0.815;0.934	B;B	0.37508	0.157;0.252	T	0.04579	-1.0941	10	0.87932	D	0	-8.9773	11.6988	0.51558	0.0:0.9134:0.0:0.0866	.	66;200	B7Z7L5;P10523	.;ARRS_HUMAN	L	200;200;66	ENSP00000386444:F200L;ENSP00000392889:F66L	ENSP00000252857:F200L	F	+	3	2	SAG	233901950	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.318000	0.43779	2.342000	0.79632	0.655000	0.94253	TTC		0.602	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		13	40	13	40	---	---	---	---
RTP1	132112	broad.mit.edu	37	3	186917361	186917361	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr3:186917361C>T	ENST00000312295.4	+	2	325	c.295C>T	c.(295-297)Cac>Tac	p.H99Y	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	99					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CTGGTGCTGGCACACCTGGCA	0.647																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(295-297)Cac>Tac		receptor (chemosensory) transporter protein 1							75.0	65.0	69.0					3																	186917361		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917361C>T	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.295C>T	3.37:g.186917361C>T	ENSP00000311712:p.His99Tyr		Somatic				RP11-208N14.4_ENST00000356133.3_RNA	p.H99Y	NM_153708.2	NP_714919.2	WXS	Illumina GAIIx	Phase_I	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	325	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		99						Missense_Mutation	SNP	ENST00000312295.4	37	c.295C>T	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836433	0.71373	.	.	ENSG00000175077	ENST00000312295	T	0.22945	1.93	5.7	4.83	0.62350	.	0.093484	0.64402	D	0.000001	T	0.25754	0.0627	N	0.22421	0.69	0.26790	N	0.969413	P	0.45126	0.851	P	0.50192	0.634	T	0.06607	-1.0817	10	0.66056	D	0.02	.	10.6512	0.45649	0.0:0.9121:0.0:0.0879	.	99	P59025	RTP1_HUMAN	Y	99	ENSP00000311712:H99Y	ENSP00000311712:H99Y	H	+	1	0	RTP1	188400055	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.103000	0.41806	1.430000	0.47334	0.561000	0.74099	CAC		0.647	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		34	57	34	57	---	---	---	---
FGA	2243	broad.mit.edu	37	4	155507284	155507284	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr4:155507284G>T	ENST00000302053.3	-	5	1375	c.1297C>A	c.(1297-1299)Ctg>Atg	p.L433M	FGA_ENST00000403106.3_Missense_Mutation_p.L433M	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	433					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAAGTGACCAGTTTTTCTGTG	0.498																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1297-1299)Ctg>Atg		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						180.0	189.0	186.0					4																	155507284		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507284G>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1297C>A	4.37:g.155507284G>T	ENSP00000306361:p.Leu433Met		Somatic				FGA_ENST00000403106.3_Missense_Mutation_p.L433M	p.L433M	NM_000508.3	NP_000499.1	WXS	Illumina GAIIx	Phase_I	P02671	FIBA_HUMAN			5	1375	-	all_hematologic(180;0.215)	Renal(120;0.0458)	433					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1297C>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884242	0.51908	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.60040	0.22;2.64	5.89	-1.32	0.09201	.	4.073680	0.00780	N	0.001269	T	0.73442	0.3587	M	0.78916	2.43	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.69479	0.964;0.915	T	0.55780	-0.8087	10	0.72032	D	0.01	.	5.367	0.16119	0.4415:0.2612:0.2973:0.0	.	433;433	P02671-2;P02671	.;FIBA_HUMAN	M	433	ENSP00000306361:L433M;ENSP00000385981:L433M	ENSP00000306361:L433M	L	-	1	2	FGA	155726734	0.022000	0.18835	0.099000	0.21106	0.875000	0.50365	-0.075000	0.11431	-0.083000	0.12618	0.655000	0.94253	CTG		0.498	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		34	65	34	65	---	---	---	---
SNX25	83891	broad.mit.edu	37	4	186241903	186241903	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr4:186241903A>G	ENST00000504273.1	+	8	1163	c.869A>G	c.(868-870)gAt>gGt	p.D290G	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.D290G			Q9H3E2	SNX25_HUMAN	sorting nexin 25	290	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CAGTTTGAAGATATCTTGGCC	0.328																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(868-870)gAt>gGt		sorting nexin 25							92.0	93.0	93.0					4																	186241903		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186241903A>G	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.869A>G	4.37:g.186241903A>G	ENSP00000426255:p.Asp290Gly		Somatic				SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.D290G	p.D290G			WXS	Illumina GAIIx	Phase_I	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	8	1163	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	290			RGS.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.869A>G	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068596	0.76301	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.01998	4.51;4.51	5.26	5.26	0.73747	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.172152	0.50627	D	0.000116	T	0.05318	0.0141	L	0.46157	1.445	0.58432	D	0.999993	P;P	0.45283	0.855;0.645	P;P	0.49502	0.613;0.455	T	0.54669	-0.8259	10	0.31617	T	0.26	-17.1308	15.4661	0.75403	1.0:0.0:0.0:0.0	.	61;290	Q8N6K3;Q9H3E2	.;SNX25_HUMAN	G	290	ENSP00000426255:D290G;ENSP00000264694:D290G	ENSP00000264694:D290G	D	+	2	0	SNX25	186478897	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	8.829000	0.92055	2.123000	0.65237	0.459000	0.35465	GAT		0.328	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		20	35	20	35	---	---	---	---
LSM11	134353	broad.mit.edu	37	5	157181082	157181082	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr5:157181082T>G	ENST00000286307.5	+	3	715	c.659T>G	c.(658-660)cTg>cGg	p.L220R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	220					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATTCTTCACTGACTCTCACT	0.473																																						ENST00000286307.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(658-660)cTg>cGg		LSM11, U7 small nuclear RNA associated							131.0	109.0	117.0					5																	157181082		2203	4300	6503	SO:0001583	missense	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157181082T>G	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.659T>G	5.37:g.157181082T>G	ENSP00000286307:p.Leu220Arg		Somatic					p.L220R	NM_173491.2	NP_775762.1	WXS	Illumina GAIIx	Phase_I	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	715	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	220					A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	c.659T>G	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711253	0.89112	.	.	ENSG00000155858	ENST00000286307	T	0.46451	0.87	6.17	6.17	0.99709	Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	L	0.41236	1.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.59252	-0.7489	10	0.72032	D	0.01	-9.4491	16.8222	0.85835	0.0:0.0:0.0:1.0	.	220	P83369	LSM11_HUMAN	R	220	ENSP00000286307:L220R	ENSP00000286307:L220R	L	+	2	0	LSM11	157113660	1.000000	0.71417	0.938000	0.37757	0.995000	0.86356	7.272000	0.78516	2.371000	0.80710	0.533000	0.62120	CTG		0.473	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		30	21	30	21	---	---	---	---
ZNF76	7629	broad.mit.edu	37	6	35259145	35259145	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr6:35259145C>T	ENST00000373953.3	+	8	982	c.716C>T	c.(715-717)tCa>tTa	p.S239L	ZNF76_ENST00000339411.5_Missense_Mutation_p.S239L|ZNF76_ENST00000440666.2_Missense_Mutation_p.S213L	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	239					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TTCAAGACCTCAGGAGACCTG	0.552																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(715-717)tCa>tTa		zinc finger protein 76							90.0	71.0	77.0					6																	35259145		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35259145C>T	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.716C>T	6.37:g.35259145C>T	ENSP00000363064:p.Ser239Leu		Somatic				ZNF76_ENST00000339411.5_Missense_Mutation_p.S239L|ZNF76_ENST00000440666.2_Missense_Mutation_p.S213L	p.S239L	NM_003427.3	NP_003418.2	WXS	Illumina GAIIx	Phase_I	P36508	ZNF76_HUMAN			8	982	+			239					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.716C>T	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504092	0.96371	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.20738	3.02;2.05;2.05;2.44	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36932	N	0.002325	T	0.34542	0.0901	L	0.46567	1.45	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.991;0.996;0.998	T	0.02789	-1.1110	10	0.87932	D	0	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	239;239;239	B7Z851;P36508-2;P36508	.;.;ZNF76_HUMAN	L	239;239;239;239;213;239	ENSP00000419106:S239L;ENSP00000363064:S239L;ENSP00000392243:S213L;ENSP00000344097:S239L	ENSP00000344097:S239L	S	+	2	0	ZNF76	35367123	1.000000	0.71417	0.975000	0.42487	0.953000	0.61014	7.609000	0.82925	2.941000	0.99782	0.655000	0.94253	TCA		0.552	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		12	7	12	7	---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47920335	47920335	+	Missense_Mutation	SNP	C	C	A	rs539595370		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:47920335C>A	ENST00000289672.2	-	21	3561	c.3511G>T	c.(3511-3513)Gtg>Ttg	p.V1171L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1171	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCCACAGACACTTGCAGGACG	0.473																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(3511-3513)Gtg>Ttg		polycystic kidney disease 1 like 1							208.0	160.0	177.0					7																	47920335		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47920335C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3511G>T	7.37:g.47920335C>A	ENSP00000289672:p.Val1171Leu		Somatic					p.V1171L	NM_138295.3	NP_612152.1	WXS	Illumina GAIIx	Phase_I	Q8TDX9	PK1L1_HUMAN			21	3561	-			1171			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.3511G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608944	0.28623	.	.	ENSG00000158683	ENST00000289672	T	0.62639	0.01	4.43	4.43	0.53597	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.457958	0.17983	N	0.155463	T	0.42630	0.1211	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.15870	0.014	T	0.12400	-1.0549	10	0.14252	T	0.57	-16.902	12.9662	0.58485	0.0:1.0:0.0:0.0	.	1171	Q8TDX9	PK1L1_HUMAN	L	1171	ENSP00000289672:V1171L	ENSP00000289672:V1171L	V	-	1	0	PKD1L1	47886860	0.989000	0.36119	0.037000	0.18230	0.707000	0.40811	3.302000	0.51849	2.207000	0.71202	0.650000	0.86243	GTG		0.473	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		6	55	6	55	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48280530	48280530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:48280530G>T	ENST00000435803.1	+	10	1153	c.1129G>T	c.(1129-1131)Gag>Tag	p.E377*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	377					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCATAGTCTGGAGGCTCTCAG	0.493																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(1129-1131)Gag>Tag		ATP-binding cassette, sub-family A (ABC1), member 13							100.0	100.0	100.0					7																	48280530		1998	4175	6173	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48280530G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1129G>T	7.37:g.48280530G>T	ENSP00000411096:p.Glu377*		Somatic					p.E377*	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	Q86UQ4	ABCAD_HUMAN			10	1153	+			377					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.1129G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399949	0.83120	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.6	2.69	0.31865	.	0.608356	0.14527	N	0.314061	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.5519	0.27802	0.087:0.3193:0.5937:0.0	.	.	.	.	X	377	.	ENSP00000411096:E377X	E	+	1	0	ABCA13	48251076	0.000000	0.05858	0.024000	0.17045	0.013000	0.08279	0.047000	0.14056	0.262000	0.21774	0.655000	0.94253	GAG		0.493	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		23	38	23	38	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113558913	113558913	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:113558913C>G	ENST00000284601.3	-	1	207	c.139G>C	c.(139-141)Gat>Cat	p.D47H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	47					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.D47Y(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCAGAAGAATCAGAACCTCGT	0.368																																						ENST00000284601.3																			1	Substitution - Missense(1)	p.D47Y(1)	kidney(1)	NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(139-141)Gat>Cat		protein phosphatase 1, regulatory subunit 3A							83.0	81.0	82.0					7																	113558913		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558913C>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.139G>C	7.37:g.113558913C>G	ENSP00000284601:p.Asp47His		Somatic					p.D47H	NM_002711.3	NP_002702.2	WXS	Illumina GAIIx	Phase_I	Q16821	PPR3A_HUMAN			1	207	-			47					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.139G>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185341	0.57909	.	.	ENSG00000154415	ENST00000284601	T	0.17054	2.3	6.17	6.17	0.99709	.	0.607817	0.17550	N	0.170216	T	0.27313	0.0670	L	0.50333	1.59	0.26332	N	0.977503	D	0.59357	0.985	P	0.49502	0.613	T	0.07139	-1.0788	10	0.49607	T	0.09	-0.1211	17.0623	0.86550	0.1275:0.8725:0.0:0.0	.	47	Q16821	PPR3A_HUMAN	H	47	ENSP00000284601:D47H	ENSP00000284601:D47H	D	-	1	0	PPP1R3A	113346149	0.532000	0.26346	1.000000	0.80357	0.998000	0.95712	2.154000	0.42291	2.941000	0.99782	0.655000	0.94253	GAT		0.368	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		17	129	17	129	---	---	---	---
CADPS2	93664	broad.mit.edu	37	7	122111518	122111518	+	Silent	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:122111518C>G	ENST00000449022.2	-	14	2116	c.2097G>C	c.(2095-2097)ctG>ctC	p.L699L	CADPS2_ENST00000313070.7_Silent_p.L696L|CADPS2_ENST00000412584.2_Silent_p.L696L|CADPS2_ENST00000334010.7_Silent_p.L700L	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	699					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AATGTTCCATCAGTTCTGCAA	0.478																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(2098-2100)ctG>ctC		Ca++-dependent secretion activator 2							104.0	107.0	106.0					7																	122111518		1976	4181	6157	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122111518C>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2097G>C	7.37:g.122111518C>G			Somatic				CADPS2_ENST00000412584.2_Silent_p.L696L|CADPS2_ENST00000313070.7_Silent_p.L696L|CADPS2_ENST00000449022.2_Silent_p.L699L	p.L700L	NM_001167940.1	NP_001161412.1	WXS	Illumina GAIIx	Phase_I	Q86UW7	CAPS2_HUMAN			13	2521	-			699					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.2100G>C	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996121	0.19043	.	.	ENSG00000081803	ENST00000397721	.	.	.	6.17	2.14	0.27477	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50541	-0.8816	4	.	.	.	-11.3774	8.6719	0.34156	0.0:0.6385:0.2342:0.1273	.	.	.	.	H	345	.	.	D	-	1	0	CADPS2	121898754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.973000	0.29422	0.463000	0.27118	0.655000	0.94253	GAT		0.478	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		11	15	11	15	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135106950	135106950	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:135106950G>T	ENST00000315544.5	-	3	606	c.327C>A	c.(325-327)aaC>aaA	p.N109K	CNOT4_ENST00000451834.1_Missense_Mutation_p.N109K|CNOT4_ENST00000423368.2_Missense_Mutation_p.N109K|CNOT4_ENST00000541284.1_Missense_Mutation_p.N109K|CNOT4_ENST00000428680.2_Missense_Mutation_p.N109K|CNOT4_ENST00000414802.1_Missense_Mutation_p.N109K|CNOT4_ENST00000361528.4_Missense_Mutation_p.N109K|CNOT4_ENST00000356162.4_Missense_Mutation_p.N109K	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	109	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CAAAGACGAGGTTTTTTTGTA	0.353																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(325-327)aaC>aaA		CCR4-NOT transcription complex, subunit 4							164.0	154.0	157.0					7																	135106950		1852	4088	5940	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135106950G>T	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.327C>A	7.37:g.135106950G>T	ENSP00000326731:p.Asn109Lys		Somatic				CNOT4_ENST00000361528.4_Missense_Mutation_p.N109K|CNOT4_ENST00000356162.4_Missense_Mutation_p.N109K|CNOT4_ENST00000541284.1_Missense_Mutation_p.N109K|CNOT4_ENST00000414802.1_Missense_Mutation_p.N109K|CNOT4_ENST00000451834.1_Missense_Mutation_p.N109K|CNOT4_ENST00000315544.5_Missense_Mutation_p.N109K|CNOT4_ENST00000423368.2_Missense_Mutation_p.N109K	p.N109K	NM_001008225.2	NP_001008226.1	WXS	Illumina GAIIx	Phase_I	O95628	CNOT4_HUMAN			3	606	-			109			RRM.		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.327C>A	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642736	0.87859	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.97	5.97	0.96955	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	M	0.93462	3.42	0.80722	D	1	P;D;D;D;D;D	0.89917	0.78;0.999;0.999;1.0;0.989;0.989	P;D;D;D;D;D	0.80764	0.674;0.986;0.972;0.994;0.969;0.969	T	0.78360	-0.2234	10	0.72032	D	0.01	-14.3619	13.135	0.59403	0.1126:0.0:0.8874:0.0	.	109;109;109;109;109;109	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	K	109	ENSP00000445508:N109K;ENSP00000388491:N109K;ENSP00000406777:N109K;ENSP00000354673:N109K;ENSP00000416532:N109K;ENSP00000348485:N109K;ENSP00000399108:N109K;ENSP00000326731:N109K	ENSP00000262563:N109K	N	-	3	2	CNOT4	134757490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.127000	0.57944	2.836000	0.97738	0.655000	0.94253	AAC		0.353	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		42	54	42	54	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151845693	151845693	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:151845693T>C	ENST00000262189.6	-	52	13537	c.13319A>G	c.(13318-13320)tAt>tGt	p.Y4440C	KMT2C_ENST00000355193.2_Missense_Mutation_p.Y4497C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4440					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y4497C(1)|p.Y4440C(1)									CTGAGTCTCATAGACCTCCGT	0.507																																						ENST00000355193.2																			2	Substitution - Missense(2)	p.Y4497C(1)|p.Y4440C(1)	prostate(2)								c.(13489-13491)tAt>tGt		lysine (K)-specific methyltransferase 2C							115.0	112.0	113.0					7																	151845693		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151845693T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13319A>G	7.37:g.151845693T>C	ENSP00000262189:p.Tyr4440Cys		Somatic				KMT2C_ENST00000262189.6_Missense_Mutation_p.Y4440C	p.Y4497C			WXS	Illumina GAIIx	Phase_I					53	13708	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.13490A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977861	0.53720	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	T;T;T	0.70986	-0.53;-0.53;-0.53	5.24	5.24	0.73138	.	0.000000	0.39407	U	0.001380	D	0.82508	0.5052	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	D	0.84097	0.0393	10	0.59425	D	0.04	.	15.4242	0.75038	0.0:0.0:0.0:1.0	.	4440;3558;4497	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	C	4440;4497;1057	ENSP00000262189:Y4440C;ENSP00000347325:Y4497C;ENSP00000410411:Y1057C	ENSP00000262189:Y4440C	Y	-	2	0	MLL3	151476626	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.997000	0.88414	2.103000	0.63969	0.455000	0.32223	TAT		0.507	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			45	68	45	68	---	---	---	---
STAU2	27067	broad.mit.edu	37	8	74529544	74529544	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr8:74529544G>A	ENST00000524300.1	-	7	903	c.553C>T	c.(553-555)Cca>Tca	p.P185S	STAU2_ENST00000517542.1_Missense_Mutation_p.P147S|STAU2_ENST00000521210.1_Missense_Mutation_p.P81S|STAU2_ENST00000522695.1_Missense_Mutation_p.P153S|STAU2_ENST00000522509.1_Missense_Mutation_p.P153S|STAU2_ENST00000523558.1_Missense_Mutation_p.P13S|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000519961.1_Missense_Mutation_p.P185S|STAU2_ENST00000521727.1_Missense_Mutation_p.P165S|STAU2_ENST00000355780.5_Missense_Mutation_p.P153S	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	185					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GATCTTTCTGGAATAGGTTCA	0.398																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(457-459)Cca>Tca		staufen double-stranded RNA binding protein 2							147.0	133.0	138.0					8																	74529544		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74529544G>A	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000524300.1:c.553C>T	8.37:g.74529544G>A	ENSP00000428756:p.Pro185Ser		Somatic				STAU2_ENST00000521210.1_Missense_Mutation_p.P81S|STAU2_ENST00000522695.1_Missense_Mutation_p.P153S|STAU2_ENST00000521727.1_Missense_Mutation_p.P165S|STAU2_ENST00000519961.1_Missense_Mutation_p.P185S|STAU2_ENST00000523558.1_Missense_Mutation_p.P13S|STAU2_ENST00000524300.1_Missense_Mutation_p.P185S|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000522509.1_Missense_Mutation_p.P153S|STAU2_ENST00000517542.1_Missense_Mutation_p.P147S	p.P153S	NM_014393.2	NP_055208.2	WXS	Illumina GAIIx	Phase_I	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		6	675	-	Breast(64;0.0138)		185			DRBM 2.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000524300.1	37	c.457C>T	CCDS55247.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793405	0.70452	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000522509;ENST00000517542;ENST00000518767;ENST00000521447	T;T;T;T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;0.97;0.05;-0.09;-0.09;-0.09;-0.09;-0.09;0.81;-0.09	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D;B	0.89917	1.0;0.999;1.0;1.0;0.997;1.0;0.402	D;D;D;D;P;D;B	0.87578	0.996;0.974;0.996;0.998;0.829;0.996;0.109	T	0.78685	-0.2108	10	0.54805	T	0.06	-23.6113	18.8698	0.92308	0.0:0.0:1.0:0.0	.	165;81;13;153;185;153;185	E7EPX0;E9PEI3;E7ER74;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.	S	153;185;13;81;153;185;165;153;147;13;153	ENSP00000428456:P153S;ENSP00000428756:P185S;ENSP00000428741:P13S;ENSP00000429173:P81S;ENSP00000348026:P153S;ENSP00000430907:P185S;ENSP00000429973:P165S;ENSP00000427977:P153S;ENSP00000431111:P147S;ENSP00000429005:P13S;ENSP00000428829:P153S	ENSP00000344030:P13S	P	-	1	0	STAU2	74692098	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	9.188000	0.94921	2.520000	0.84964	0.555000	0.69702	CCA		0.398	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379000.2	NM_001164380		10	30	10	30	---	---	---	---
DNA2	1763	broad.mit.edu	37	10	70196776	70196776	+	Silent	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:70196776T>C	ENST00000358410.3	-	10	1688	c.1638A>G	c.(1636-1638)ttA>ttG	p.L546L	DNA2_ENST00000399180.2_Silent_p.L632L|DNA2_ENST00000399179.2_Silent_p.L546L	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	546	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						ACCTGTCTAATAAACAAGTTA	0.333																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(1894-1896)ttA>ttG		DNA replication helicase/nuclease 2							127.0	122.0	124.0					10																	70196776		1852	4098	5950	SO:0001819	synonymous_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70196776T>C	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1638A>G	10.37:g.70196776T>C			Somatic				DNA2_ENST00000399179.2_Silent_p.L546L|DNA2_ENST00000358410.3_Silent_p.L546L	p.L632L			WXS	Illumina GAIIx	Phase_I	P51530	DNA2L_HUMAN			10	1895	-			546					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37	c.1896A>G																																																																																					0.333	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			46	59	46	59	---	---	---	---
CYP2C19	1557	broad.mit.edu	37	10	96540343	96540343	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:96540343A>C	ENST00000371321.3	+	4	651	c.569A>C	c.(568-570)aAa>aCa	p.K190T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	190					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTCGATTATAAAGATCAGCAA	0.418																																						ENST00000371321.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(568-570)aAa>aCa		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						139.0	136.0	137.0					10																	96540343		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96540343A>C	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.569A>C	10.37:g.96540343A>C	ENSP00000360372:p.Lys190Thr		Somatic				CYP2C19_ENST00000464755.1_3'UTR	p.K190T	NM_000769.1	NP_000760	WXS	Illumina GAIIx	Phase_I	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	4	651	+		Colorectal(252;0.09)	190					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.569A>C	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298210	0.23650	.	.	ENSG00000165841	ENST00000371321	T	0.69306	-0.39	4.13	-7.91	0.01165	.	0.684486	0.13282	U	0.399676	T	0.44871	0.1314	L	0.28344	0.845	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.18053	-1.0349	10	0.30078	T	0.28	.	11.3878	0.49796	0.2088:0.705:0.0863:0.0	.	190	P33261	CP2CJ_HUMAN	T	190	ENSP00000360372:K190T	ENSP00000360372:K190T	K	+	2	0	CYP2C19	96530333	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	0.793000	0.26944	-1.392000	0.02082	0.411000	0.27672	AAA		0.418	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		101	88	101	88	---	---	---	---
SOX6	55553	broad.mit.edu	37	11	16117662	16117662	+	Silent	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:16117662C>T	ENST00000352083.6	-	9	1058	c.981G>A	c.(979-981)aaG>aaA	p.K327K	SOX6_ENST00000396356.3_Silent_p.K327K|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000528429.1_Silent_p.K327K|SOX6_ENST00000527619.1_Intron|SOX6_ENST00000316399.6_Silent_p.K327K			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	327					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AGACATGACCCTTCTGTTTAG	0.398																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(979-981)aaG>aaA		SRY (sex determining region Y)-box 6							131.0	126.0	128.0					11																	16117662		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16117662C>T	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.981G>A	11.37:g.16117662C>T			Somatic				SOX6_ENST00000528429.1_Silent_p.K327K|SOX6_ENST00000316399.6_Silent_p.K327K|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000527619.1_Intron|SOX6_ENST00000396356.3_Silent_p.K327K	p.K327K			WXS	Illumina GAIIx	Phase_I	P35712	SOX6_HUMAN			9	1058	-			327					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.981G>A																																																																																					0.398	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		26	41	26	41	---	---	---	---
DBX1	120237	broad.mit.edu	37	11	20178066	20178066	+	Silent	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:20178066G>A	ENST00000524983.2	-	4	1014	c.726C>T	c.(724-726)cgC>cgT	p.R242R	DBX1_ENST00000227256.3_Silent_p.R281R			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	242					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						ACAGGAGTTCGCGCTCCTTGG	0.622																																						ENST00000524983.2																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						c.(724-726)cgC>cgT		developing brain homeobox 1							31.0	34.0	33.0					11																	20178066		2203	4300	6503	SO:0001819	synonymous_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20178066G>A			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.726C>T	11.37:g.20178066G>A			Somatic				DBX1_ENST00000227256.3_Silent_p.R281R	p.R242R			WXS	Illumina GAIIx	Phase_I	A6NMT0	DBX1_HUMAN			4	1014	-			242						Silent	SNP	ENST00000524983.2	37	c.726C>T																																																																																					0.622	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		13	33	13	33	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92592421	92592421	+	Missense_Mutation	SNP	G	G	A	rs372126226		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:92592421G>A	ENST00000298047.6	+	20	11608	c.11591G>A	c.(11590-11592)cGt>cAt	p.R3864H	FAT3_ENST00000525166.1_Missense_Mutation_p.R3714H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3864H|FAT3_ENST00000533797.1_Missense_Mutation_p.R199H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3864	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTAGCTCTGCGTCTTCGAACA	0.393										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11590-11592)cGt>cAt		FAT atypical cadherin 3		G	HIS/ARG	0,3700		0,0,1850	88.0	84.0	85.0		11591	5.2	1.0	11		85	2,8190		0,2,4094	no	missense	FAT3	NM_001008781.2	29	0,2,5944	AA,AG,GG		0.0244,0.0,0.0168	probably-damaging	3864/4558	92592421	2,11890	1850	4096	5946	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92592421G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11591G>A	11.37:g.92592421G>A	ENSP00000298047:p.Arg3864His	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000525166.1_Missense_Mutation_p.R3714H|FAT3_ENST00000533797.1_Missense_Mutation_p.R199H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3864H	p.R3864H			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			20	11608	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3864			Laminin G-like.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11591G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.091737	0.94149	0.0	2.44E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.15	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	D	0.82692	0.5092	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.959	D;B	0.91635	0.999;0.348	D	0.83779	0.0224	9	0.54805	T	0.06	.	18.9877	0.92779	0.0:0.0:1.0:0.0	.	3864;3864	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	H	3864;3864;3714;199	ENSP00000298047:R3864H;ENSP00000387040:R3864H;ENSP00000432586:R3714H;ENSP00000436399:R199H	ENSP00000298047:R3864H	R	+	2	0	FAT3	92232069	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.338000	0.96553	2.580000	0.87095	0.655000	0.94253	CGT		0.393	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		16	15	16	15	---	---	---	---
HSPA8	3312	broad.mit.edu	37	11	122930210	122930210	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:122930210T>C	ENST00000532636.1	-	5	1210	c.1091A>G	c.(1090-1092)aAc>aGc	p.N364S	HSPA8_ENST00000453788.2_Missense_Mutation_p.N364S|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.N364S|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000526110.1_Missense_Mutation_p.N345S|HSPA8_ENST00000534319.1_Missense_Mutation_p.N128S|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.N364S|HSPA8_ENST00000533540.1_Missense_Mutation_p.N218S|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	364	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCATCAGGGTTGATGCTCTT	0.438																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1090-1092)aAc>aGc		heat shock 70kDa protein 8							123.0	116.0	118.0					11																	122930210		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930210T>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1091A>G	11.37:g.122930210T>C	ENSP00000437125:p.Asn364Ser		Somatic				HSPA8_ENST00000227378.3_Missense_Mutation_p.N364S|HSPA8_ENST00000453788.2_Missense_Mutation_p.N364S|HSPA8_ENST00000533540.1_Missense_Mutation_p.N218S|HSPA8_ENST00000526110.1_Missense_Mutation_p.N345S|HSPA8_ENST00000532636.1_Missense_Mutation_p.N364S|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000534319.1_Missense_Mutation_p.N128S	p.N364S	NM_006597.4	NP_006588.1	WXS	Illumina GAIIx	Phase_I	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	5	1367	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	364			Interaction with BAG1.		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1091A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548640	0.86127	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.01397	4.94;4.94;4.94;4.94;4.94;4.94;4.94;4.94	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.15912	0.0383	H	0.99273	4.495	0.80722	D	1	D;D;P;D	0.57257	0.979;0.961;0.952;0.979	P;P;P;P	0.60236	0.735;0.871;0.796;0.735	T	0.35001	-0.9806	10	0.87932	D	0	-29.5464	14.6962	0.69124	0.0:0.0:0.0:1.0	.	364;364;364;364	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	S	364;218;364;364;364;128;345;304	ENSP00000437125:N364S;ENSP00000437189:N218S;ENSP00000432083:N364S;ENSP00000404372:N364S;ENSP00000227378:N364S;ENSP00000433316:N128S;ENSP00000433584:N345S;ENSP00000432884:N304S	ENSP00000227378:N364S	N	-	2	0	HSPA8	122435420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.811000	0.86092	1.932000	0.55993	0.454000	0.30748	AAC		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			13	112	13	112	---	---	---	---
DDX23	9416	broad.mit.edu	37	12	49225958	49225958	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr12:49225958A>G	ENST00000308025.3	-	15	2046	c.1967T>C	c.(1966-1968)cTg>cCg	p.L656P		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	656	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CAAGATTGCCAGCAGCTTTTT	0.483																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(1966-1968)cTg>cCg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							77.0	78.0	78.0					12																	49225958		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49225958A>G	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1967T>C	12.37:g.49225958A>G	ENSP00000310723:p.Leu656Pro		Somatic					p.L656P	NM_004818.2	NP_004809.2	WXS	Illumina GAIIx	Phase_I	Q9BUQ8	DDX23_HUMAN			15	2046	-			656			Helicase C-terminal.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1967T>C	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.703720	0.88924	.	.	ENSG00000174243	ENST00000308025	T	0.05996	3.36	6.17	6.17	0.99709	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.19087	0.0458	M	0.71920	2.185	0.80722	D	1	D	0.59357	0.985	P	0.55667	0.781	T	0.00364	-1.1787	10	0.36615	T	0.2	-11.8179	15.8048	0.78491	1.0:0.0:0.0:0.0	.	656	Q9BUQ8	DDX23_HUMAN	P	656	ENSP00000310723:L656P	ENSP00000310723:L656P	L	-	2	0	DDX23	47512225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.915000	0.92740	2.371000	0.80710	0.533000	0.62120	CTG		0.483	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		24	52	24	52	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24924310	24924310	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr15:24924310G>T	ENST00000329468.2	+	1	3770	c.3296G>T	c.(3295-3297)tGc>tTc	p.C1099F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1099					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGAATTCATGCAGTGGTATG	0.507																																						ENST00000329468.2																			0											c.(3295-3297)tGc>tTc		nuclear pore associated protein 1							140.0	125.0	130.0					15																	24924310		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24924310G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3296G>T	15.37:g.24924310G>T	ENSP00000333735:p.Cys1099Phe		Somatic					p.C1099F	NM_018958.2	NP_061831.2	WXS	Illumina GAIIx	Phase_I					1	3770	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.3296G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	3.550	-0.091926	0.07053	.	.	ENSG00000185823	ENST00000329468	T	0.05855	3.38	1.68	-0.351	0.12602	.	.	.	.	.	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.42430	-0.9452	9	0.59425	D	0.04	.	3.948	0.09356	0.4404:0.0:0.5596:0.0	.	1099	Q9NZP6	CO002_HUMAN	F	1099	ENSP00000333735:C1099F	ENSP00000333735:C1099F	C	+	2	0	C15orf2	22475403	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.041000	0.13927	-0.099000	0.12263	0.313000	0.20887	TGC		0.507	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		69	101	69	101	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	10031896	10031896	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:10031896C>G	ENST00000396573.2	-	4	1236	c.927G>C	c.(925-927)aaG>aaC	p.K309N	GRIN2A_ENST00000566670.1_5'Flank|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K152N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K309N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K309N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K309N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	309					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGTAGGAGAACTTCTCCAGCA	0.572																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(925-927)aaG>aaC		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						79.0	65.0	69.0					16																	10031896		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10031896C>G		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.927G>C	16.37:g.10031896C>G	ENSP00000379818:p.Lys309Asn		Somatic				GRIN2A_ENST00000396575.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K152N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K309N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K309N	p.K309N	NM_000833.3	NP_000824.1	WXS	Illumina GAIIx	Phase_I	Q12879	NMDE1_HUMAN			4	1236	-			309					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.927G>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	c	14.85	2.658787	0.47467	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.2	0.767	0.18482	.	0.317437	0.37577	N	0.002032	T	0.09024	0.0223	L	0.51422	1.61	0.34732	D	0.729857	B;B;B	0.30146	0.082;0.27;0.005	B;B;B	0.38755	0.085;0.281;0.013	T	0.22695	-1.0209	9	.	.	.	.	5.679	0.17765	0.0:0.5177:0.2633:0.2189	.	152;309;309	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	309;309;152;309;309	ENSP00000379818:K309N;ENSP00000385872:K309N;ENSP00000441572:K152N;ENSP00000332549:K309N;ENSP00000379820:K309N	.	K	-	3	2	GRIN2A	9939397	0.650000	0.27331	0.249000	0.24280	0.954000	0.61252	-0.110000	0.10824	-0.006000	0.14370	0.561000	0.74099	AAG		0.572	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			6	37	6	37	---	---	---	---
GPR139	124274	broad.mit.edu	37	16	20043950	20043950	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:20043950T>C	ENST00000570682.1	-	2	469	c.169A>G	c.(169-171)Aga>Gga	p.R57G		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	57					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCTGTCTTCTTGCCACCAGC	0.458																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(169-171)Aga>Gga		G protein-coupled receptor 139							61.0	62.0	61.0					16																	20043950		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043950T>C	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.169A>G	16.37:g.20043950T>C	ENSP00000458791:p.Arg57Gly		Somatic					p.R57G	NM_001002911.2	NP_001002911.1	WXS	Illumina GAIIx	Phase_I	Q6DWJ6	GP139_HUMAN			2	469	-			57					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.169A>G	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.080338	0.55753	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.3	-2.89	0.05665	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74084	0.3670	M	0.64170	1.965	0.46458	D	0.999051	D	0.89917	1.0	D	0.97110	1.0	T	0.77191	-0.2678	9	0.56958	D	0.05	-21.6187	18.5887	0.91200	0.0:0.0:0.7885:0.2115	.	57	Q6DWJ6	GP139_HUMAN	G	57	.	ENSP00000370779:R57G	R	-	1	2	GPR139	19951451	1.000000	0.71417	0.188000	0.23233	0.928000	0.56348	3.278000	0.51662	-0.210000	0.10140	0.460000	0.39030	AGA		0.458	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		13	21	13	21	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72828630	72828630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:72828630C>A	ENST00000268489.5	-	9	8623	c.7951G>T	c.(7951-7953)Gaa>Taa	p.E2651*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E1737*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2651					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E2651Q(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCTAGTTGTTCCGGTGTGATG	0.498																																						ENST00000268489.5																			1	Substitution - Missense(1)	p.E2651Q(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(7951-7953)Gaa>Taa		zinc finger homeobox 3							260.0	278.0	272.0					16																	72828630		2198	4300	6498	SO:0001587	stop_gained	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828630C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7951G>T	16.37:g.72828630C>A	ENSP00000268489:p.Glu2651*		Somatic				ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E1737*	p.E2651*	NM_006885.3	NP_008816.3	WXS	Illumina GAIIx	Phase_I	Q15911	ZFHX3_HUMAN			9	8623	-		Ovarian(137;0.13)	2651					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.7951G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	51	17.806742	0.99893	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.64	5.64	0.86602	.	0.000000	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.683	0.95971	0.0:1.0:0.0:0.0	.	.	.	.	X	2651;1737	.	ENSP00000268489:E2651X	E	-	1	0	ZFHX3	71386131	1.000000	0.71417	0.934000	0.37439	0.724000	0.41520	7.818000	0.86416	2.653000	0.90120	0.561000	0.74099	GAA		0.498	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		10	318	10	318	---	---	---	---
OR3A1	4994	broad.mit.edu	37	17	3195619	3195619	+	Silent	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:3195619A>G	ENST00000323404.1	-	1	257	c.258T>C	c.(256-258)agT>agC	p.S86S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	86					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						ACAGGAGACGACTCAACATTG	0.562																																					GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(256-258)agT>agC		olfactory receptor, family 3, subfamily A, member 1							99.0	78.0	85.0					17																	3195619		2203	4300	6503	SO:0001819	synonymous_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195619A>G	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.258T>C	17.37:g.3195619A>G			Somatic				RP11-64J4.2_ENST00000573491.1_RNA	p.S86S	NM_002550.2	NP_002541.2	WXS	Illumina GAIIx	Phase_I	P47881	OR3A1_HUMAN			1	257	-			86					Q4VB06|Q6IFM4	Silent	SNP	ENST00000323404.1	37	c.258T>C	CCDS11023.1																																																																																				0.562	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			15	8	15	8	---	---	---	---
MYBBP1A	10514	broad.mit.edu	37	17	4457112	4457112	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:4457112A>T	ENST00000254718.4	-	5	860	c.554T>A	c.(553-555)cTc>cAc	p.L185H	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L185H			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	185	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TACCTCGGAGAGGATGTCCAC	0.592																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(553-555)cTc>cAc		MYB binding protein (P160) 1a							46.0	48.0	47.0					17																	4457112		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4457112A>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.554T>A	17.37:g.4457112A>T	ENSP00000254718:p.Leu185His		Somatic				MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L185H	p.L185H			WXS	Illumina GAIIx	Phase_I	Q9BQG0	MBB1A_HUMAN			5	860	-			185			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.554T>A	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679928	0.68042	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.66099	-0.19;-0.19	5.78	5.78	0.91487	Armadillo-type fold (1);	0.066937	0.64402	D	0.000006	T	0.76681	0.4021	M	0.64997	1.995	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.78502	-0.2179	10	0.66056	D	0.02	-23.9368	15.2208	0.73310	1.0:0.0:0.0:0.0	.	185;185	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	H	185	ENSP00000370968:L185H;ENSP00000254718:L185H	ENSP00000254718:L185H	L	-	2	0	MYBBP1A	4403861	1.000000	0.71417	0.936000	0.37596	0.066000	0.16364	6.314000	0.72848	2.333000	0.79357	0.533000	0.62120	CTC		0.592	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		28	8	28	8	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	rs587782664		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:7577570C>T	ENST00000269305.4	-	7	900	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000420246.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> 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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)	AACTGTTACACATGTAGTTGT	0.567		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"""		139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(1)|liver(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	CM011014	TP53	M		c.(709-711)atG>atA	Other conserved DNA damage response genes	tumor protein p53							130.0	102.0	112.0					17																	7577570		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.chr17:7577570C>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.711G>A	17.37:g.7577570C>T	ENSP00000269305:p.Met237Ile	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)	Somatic				TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	843	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	237		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|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.711G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343240	0.82022	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	3.12	0.35913	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	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999983	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	9	27	9	---	---	---	---
BRIP1	83990	broad.mit.edu	37	17	59760933	59760933	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:59760933C>A	ENST00000259008.2	-	20	3741	c.3474G>T	c.(3472-3474)ttG>ttT	p.L1158F		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1158					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AATTGTTAGCCAATCTATTTC	0.333			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(3472-3474)ttG>ttT	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							75.0	74.0	75.0					17																	59760933		2203	4299	6502	SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59760933C>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3474G>T	17.37:g.59760933C>A	ENSP00000259008:p.Leu1158Phe		Somatic					p.L1158F	NM_032043.2	NP_114432.2	WXS	Illumina GAIIx	Phase_I	Q9BX63	FANCJ_HUMAN			20	3741	-			1158					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.3474G>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	2.407	-0.336166	0.05278	.	.	ENSG00000136492	ENST00000259008	T	0.75589	-0.95	5.39	-0.498	0.12019	.	2.966490	0.00678	N	0.000669	T	0.57946	0.2088	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.31475	-0.9942	9	.	.	.	-0.2137	2.3486	0.04278	0.1195:0.485:0.1575:0.238	.	1158	Q9BX63	FANCJ_HUMAN	F	1158	ENSP00000259008:L1158F	.	L	-	3	2	BRIP1	57115715	0.001000	0.12720	0.006000	0.13384	0.063000	0.16089	0.410000	0.21098	0.028000	0.15324	-0.251000	0.11542	TTG		0.333	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		17	47	17	47	---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17950368	17950369	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:17950368_17950369GA>TT	ENST00000527670.1	-	9	1387_1388	c.1358_1359TC>AA	c.(1357-1359)cTC>cAA	p.L453Q	JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000458235.1_Missense_Mutation_p.L453Q|JAK3_ENST00000534444.1_Missense_Mutation_p.L453Q			P52333	JAK3_HUMAN	Janus kinase 3	453	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGGTTGCCAGGAGCTCTCGAAG	0.629		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1357-1359)ctC>ctA|c.(1357-1359)cTc>cAc		Janus kinase 3																																				SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17950368G>T|g.chr19:17950369A>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1358_1359delinsTT	19.37:g.17950368_17950369delinsTT	ENSP00000432511:p.Leu453Gln		Somatic				JAK3_ENST00000527670.1_Silent_p.L453L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Silent_p.L453L|JAK3_ENST00000527670.1_Missense_Mutation_p.L453H|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.L453H	p.L453L|p.L453H	NM_000215.3	NP_000206.2	WXS	Illumina GAIIx	Phase_I	P52333	JAK3_HUMAN			10	1458|1457	-			453			SH2; atypical.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent|Missense_Mutation	SNP	ENST00000527670.1	37	c.1359C>A|c.1358T>A	CCDS12366.1																																																																																				0.629	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		5	6	5	6	---	---	---	---
ZNF160	90338	broad.mit.edu	37	19	53573131	53573131	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:53573131G>A	ENST00000429604.1	-	7	1071	c.656C>T	c.(655-657)cCa>cTa	p.P219L	ZNF160_ENST00000599056.1_Missense_Mutation_p.P219L|ZNF160_ENST00000601421.1_Missense_Mutation_p.P183L|ZNF160_ENST00000418871.1_Missense_Mutation_p.P219L	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	219					hemopoiesis (GO:0030097)|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)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTGTTGAAGTGGTGACACTGA	0.383																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(547-549)cCa>cTa		zinc finger protein 160							173.0	165.0	168.0					19																	53573131		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53573131G>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.656C>T	19.37:g.53573131G>A	ENSP00000406201:p.Pro219Leu		Somatic				ZNF160_ENST00000429604.1_Missense_Mutation_p.P219L|ZNF160_ENST00000418871.1_Missense_Mutation_p.P219L|ZNF160_ENST00000599056.1_Missense_Mutation_p.P219L	p.P183L			WXS	Illumina GAIIx	Phase_I	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1424	-			219					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.548C>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634944	0.29068	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07114	3.22;3.22	2.03	-0.187	0.13268	.	.	.	.	.	T	0.04092	0.0114	N	0.17631	0.505	0.09310	N	1	B	0.31581	0.329	B	0.22152	0.038	T	0.43475	-0.9389	9	0.26408	T	0.33	.	4.8323	0.13447	0.5078:0.0:0.4922:0.0	.	219	Q9HCG1	ZN160_HUMAN	L	219	ENSP00000406201:P219L;ENSP00000409597:P219L	ENSP00000409597:P219L	P	-	2	0	ZNF160	58264943	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.622000	0.24433	0.009000	0.14813	-0.291000	0.09656	CCA		0.383	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		24	110	24	110	---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29438481	29438481	+	Splice_Site	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr22:29438481A>G	ENST00000544604.2	+	3	601		c.e3-1		ZNRF3_ENST00000332811.4_Splice_Site|ZNRF3_ENST00000406323.3_Splice_Site|ZNRF3_ENST00000402174.1_Splice_Site	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3						canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TAACTCTGGCAGGCCAAGCGA	0.493																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.e3-1		zinc and ring finger 3							75.0	74.0	74.0					22																	29438481		1907	4127	6034	SO:0001630	splice_region_variant	84133					integral to membrane	zinc ion binding	g.chr22:29438481A>G	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.427-1A>G	22.37:g.29438481A>G			Somatic				ZNRF3_ENST00000332811.4_Splice_Site|ZNRF3_ENST00000402174.1_Splice_Site|ZNRF3_ENST00000406323.3_Splice_Site		NM_001206998.1	NP_001193927.1	WXS	Illumina GAIIx	Phase_I	Q9ULT6	ZNRF3_HUMAN			3	601	+								B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Splice_Site	SNP	ENST00000544604.2	37		CCDS56225.1	.	.	.	.	.	.	.	.	.	.	.	19.88	3.909111	0.72868	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.559	0.76223	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNRF3	27768481	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	8.397000	0.90193	2.323000	0.78572	0.529000	0.55759	.		0.493	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972	Intron	17	15	17	15	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3227766	3227766	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:3227766G>C	ENST00000217939.6	-	7	8632	c.8478C>G	c.(8476-8478)caC>caG	p.H2826Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2826	Ig-like C2-type 12.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCAGAAGACGTGGATGTAAG	0.458																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(8476-8478)caC>caG		matrix-remodelling associated 5							65.0	59.0	61.0					X																	3227766		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3227766G>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8478C>G	X.37:g.3227766G>C	ENSP00000217939:p.His2826Gln		Somatic					p.H2826Q	NM_015419.3	NP_056234.2	WXS	Illumina GAIIx	Phase_I	Q9NR99	MXRA5_HUMAN			7	8632	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2826			Ig-like C2-type 12.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.8478C>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	5.794	0.330811	0.10956	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.85	-3.32	0.04973	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42172	U	0.000759	T	0.39172	0.1068	N	0.01761	-0.735	0.24585	N	0.993858	P	0.50066	0.931	P	0.53809	0.735	T	0.53767	-0.8392	10	0.15499	T	0.54	.	12.31	0.54924	0.3449:0.0:0.6551:0.0	.	2826	Q9NR99	MXRA5_HUMAN	Q	2826	ENSP00000217939:H2826Q	ENSP00000217939:H2826Q	H	-	3	2	MXRA5	3237766	0.989000	0.36119	0.078000	0.20375	0.025000	0.11179	0.122000	0.15687	-0.753000	0.04721	-1.329000	0.01275	CAC		0.458	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		14	2	14	2	---	---	---	---
WDR13	64743	broad.mit.edu	37	X	48458010	48458010	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:48458010A>T	ENST00000218056.5	+	4	933	c.428A>T	c.(427-429)gAg>gTg	p.E143V	WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Missense_Mutation_p.E143V	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	143						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCAGCAGCAGAGGCAAGTCGG	0.602																																						ENST00000218056.5																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(427-429)gAg>gTg		WD repeat domain 13							87.0	74.0	78.0					X																	48458010		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48458010A>T	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.428A>T	X.37:g.48458010A>T	ENSP00000218056:p.Glu143Val		Somatic				WDR13_ENST00000492715.1_3'UTR|WDR13_ENST00000376729.5_Missense_Mutation_p.E143V	p.E143V	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	WXS	Illumina GAIIx	Phase_I	Q9H1Z4	WDR13_HUMAN			4	933	+			143					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.428A>T	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589955	0.86851	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.73047	-0.71;-0.71	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.996;0.998	P;P	0.59221	0.806;0.854	T	0.78329	-0.2246	10	0.42905	T	0.14	-16.9547	12.3712	0.55256	1.0:0.0:0.0:0.0	.	21;143	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	V	143	ENSP00000365919:E143V;ENSP00000218056:E143V	ENSP00000218056:E143V	E	+	2	0	WDR13	48342954	1.000000	0.71417	0.995000	0.50966	0.841000	0.47740	8.148000	0.89630	1.826000	0.53198	0.430000	0.28490	GAG		0.602	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			34	12	34	12	---	---	---	---
AMOT	154796	broad.mit.edu	37	X	112022741	112022741	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:112022741T>C	ENST00000524145.1	-	11	2715	c.2641A>G	c.(2641-2643)Atc>Gtc	p.I881V	AMOT_ENST00000371962.1_Missense_Mutation_p.I649V|AMOT_ENST00000371959.3_Missense_Mutation_p.I881V|AMOT_ENST00000304758.1_Missense_Mutation_p.I472V|MIR4329_ENST00000582643.1_RNA			Q4VCS5	AMOT_HUMAN	angiomotin	881					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ggaacagagatgggagcaaca	0.597																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2641-2643)Atc>Gtc		angiomotin							109.0	65.0	80.0					X																	112022741		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112022741T>C	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2641A>G	X.37:g.112022741T>C	ENSP00000429013:p.Ile881Val		Somatic				AMOT_ENST00000371962.1_Missense_Mutation_p.I649V|AMOT_ENST00000524145.1_Missense_Mutation_p.I881V|AMOT_ENST00000304758.1_Missense_Mutation_p.I472V	p.I881V	NM_001113490.1	NP_001106962.1	WXS	Illumina GAIIx	Phase_I	Q4VCS5	AMOT_HUMAN			10	2640	-			881					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.2641A>G	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.365712	0.24684	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000432214	T;T;T;T	0.37915	1.17;2.3;2.55;2.3	5.2	1.43	0.22495	.	0.234355	0.32134	N	0.006537	T	0.21962	0.0529	L	0.44542	1.39	0.20821	N	0.999844	B	0.02656	0.0	B	0.01281	0.0	T	0.12656	-1.0539	10	0.28530	T	0.3	-0.72	0.9463	0.01366	0.1577:0.2934:0.16:0.3889	.	881	Q4VCS5	AMOT_HUMAN	V	472;881;649;881;121	ENSP00000305557:I472V;ENSP00000361027:I881V;ENSP00000361030:I649V;ENSP00000429013:I881V	ENSP00000305557:I472V	I	-	1	0	AMOT	111909397	0.893000	0.30496	0.950000	0.38849	0.700000	0.40528	0.247000	0.18179	0.232000	0.21100	0.430000	0.28490	ATC		0.597	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		14	4	14	4	---	---	---	---
